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
| 10,649,412
|
C
|
T
|
Benign
|
1599237
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,653,593
|
C
|
T
|
Benign
|
717999
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,653,940
|
G
|
A
|
Benign
|
2037442
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,660,197
|
G
|
A
|
Benign
|
709353
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,660,248
|
A
|
G
|
Benign
|
769503
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 10,665,136
|
G
|
A
|
Benign
|
1659621
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,665,356
|
G
|
A
|
Benign
|
784930
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,665,412
|
G
|
A
|
Benign
|
774276
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,665,530
|
C
|
A
|
Benign
|
782357
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,665,530
|
C
|
T
|
Benign
|
1651971
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 10,948,070
|
C
|
T
|
Benign
|
786448
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,018,836
|
A
|
G
|
Pathogenic
|
5233
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 11,022,196
|
A
|
G
|
Pathogenic
|
5238
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 11,022,290
|
G
|
T
|
Pathogenic
|
21484
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,022,292
|
G
|
A
|
Pathogenic
|
21485
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 11,022,301
|
G
|
A
|
Pathogenic
|
5232
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,022,352
|
G
|
A
|
Pathogenic
|
5236
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,022,400
|
C
|
A
|
Pathogenic
|
5229
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 11,022,418
|
A
|
G
|
Pathogenic
|
5228
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,022,437
|
A
|
G
|
Pathogenic
|
5235
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 11,022,444
|
C
|
A
|
Pathogenic
|
21467
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,022,452
|
G
|
T
|
Pathogenic
|
266064
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,022,577
|
A
|
G
|
Pathogenic
|
21477
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,030,840
|
A
|
G
|
Benign
|
291785
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,030,859
|
C
|
A
|
Benign
|
291786
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,042,883
|
G
|
A
|
Benign
|
729733
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,045,482
|
T
|
C
|
Benign
|
291801
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,045,488
|
T
|
C
|
Benign
|
873963
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,046,591
|
G
|
A
|
Benign
|
291807
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,046,598
|
C
|
T
|
Benign
|
708053
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,046,672
|
C
|
T
|
Benign
|
291808
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,047,087
|
G
|
A
|
Benign
|
716795
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,108,275
|
A
|
C
|
Benign
|
856026
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,109,317
|
T
|
A
|
Pathogenic
|
981176
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,109,661
|
T
|
C
|
Benign
|
1400083
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,109,672
|
A
|
G
|
Benign
|
2101181
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,109,694
|
G
|
T
|
Benign
|
2425307
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,112,863
|
C
|
T
|
Benign
|
1370863
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,114,338
|
A
|
G
|
Pathogenic
|
417723
|
reviewed_by_expert_panel
|
missense_variant
|
1
| 11,114,338
|
A
|
T
|
Pathogenic
|
417724
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 11,114,363
|
C
|
T
|
Pathogenic
|
156709
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,114,380
|
C
|
A
|
Pathogenic
|
520633
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,114,402
|
C
|
T
|
Pathogenic
|
626213
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,117,039
|
C
|
T
|
Pathogenic
|
242349
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,122,047
|
C
|
T
|
Benign
|
941305
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,124,516
|
G
|
A
|
Pathogenic
|
156703
|
reviewed_by_expert_panel
|
missense_variant
|
1
| 11,124,516
|
G
|
T
|
Pathogenic
|
376129
|
reviewed_by_expert_panel
|
missense_variant
|
1
| 11,127,696
|
A
|
C
|
Benign
|
1902558
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,128,009
|
T
|
C
|
Benign
|
664023
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,128,018
|
G
|
C
|
Benign
|
640905
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,128,033
|
T
|
C
|
Benign
|
1167045
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,128,107
|
G
|
A
|
Pathogenic
|
584432
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,128,107
|
G
|
C
|
Pathogenic
|
1296989
|
reviewed_by_expert_panel
|
missense_variant
|
1
| 11,128,107
|
G
|
T
|
Pathogenic
|
156702
|
reviewed_by_expert_panel
|
missense_variant
|
1
| 11,129,783
|
C
|
T
|
Benign
|
960437
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,533
|
G
|
C
|
Benign
|
833590
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,561
|
T
|
A
|
Benign
|
970513
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,575
|
G
|
A
|
Benign
|
833701
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,582
|
C
|
T
|
Benign
|
661251
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,621
|
T
|
G
|
Benign
|
1667431
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,627
|
T
|
C
|
Benign
|
1037646
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,636
|
C
|
A
|
Benign
|
857234
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,636
|
C
|
T
|
Benign
|
1168153
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,648
|
C
|
T
|
Benign
|
408300
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,669
|
T
|
C
|
Benign
|
833870
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,686
|
T
|
C
|
Benign
|
1165900
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,697
|
C
|
G
|
Benign
|
1589209
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,708
|
C
|
T
|
Benign
|
1166081
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,130,747
|
C
|
T
|
Pathogenic
|
217823
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 11,133,090
|
C
|
T
|
Benign
|
833730
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,133,109
|
C
|
A
|
Benign
|
1996925
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,133,154
|
T
|
C
|
Benign
|
1601267
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,134,463
|
C
|
T
|
Benign
|
1041101
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,139,333
|
T
|
C
|
Benign
|
1168315
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,139,356
|
T
|
C
|
Benign
|
939937
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,139,591
|
T
|
C
|
Benign
|
661529
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,144,670
|
T
|
C
|
Benign
|
2036193
|
criteria_provided,_single_submitter
|
missense_variant,non-coding_transcript_variant
|
1
| 11,144,683
|
C
|
G
|
Benign
|
1600143
|
criteria_provided,_single_submitter
|
missense_variant,non-coding_transcript_variant
|
1
| 11,144,735
|
C
|
T
|
Pathogenic
|
224088
|
criteria_provided,_single_submitter
|
missense_variant,non-coding_transcript_variant
|
1
| 11,146,739
|
A
|
T
|
Benign
|
856486
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,150,174
|
T
|
A
|
Benign
|
833820
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,150,221
|
T
|
C
|
Benign
|
1021836
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,150,224
|
C
|
T
|
Benign
|
934040
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,157,173
|
C
|
A
|
Pathogenic
|
190121
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,157,173
|
C
|
T
|
Pathogenic
|
376453
|
reviewed_by_expert_panel
|
missense_variant
|
1
| 11,157,174
|
A
|
G
|
Pathogenic
|
374796
|
reviewed_by_expert_panel
|
missense_variant
|
1
| 11,157,201
|
G
|
A
|
Benign
|
1523768
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,157,209
|
T
|
C
|
Benign
|
1168465
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,157,211
|
G
|
C
|
Benign
|
1599642
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,157,212
|
T
|
C
|
Benign
|
2145273
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,157,242
|
A
|
G
|
Pathogenic
|
376130
|
reviewed_by_expert_panel
|
missense_variant
|
1
| 11,157,255
|
A
|
C
|
Pathogenic
|
417727
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 11,193,627
|
G
|
T
|
Benign
|
1701093
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 11,209,322
|
T
|
C
|
Benign
|
783153
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,209,395
|
C
|
T
|
Benign
|
1599074
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,210,840
|
C
|
T
|
Benign
|
642006
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,210,875
|
A
|
G
|
Benign
|
1000006
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,212,361
|
G
|
C
|
Benign
|
2008316
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,212,398
|
T
|
C
|
Benign
|
749449
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 11,212,472
|
G
|
A
|
Benign
|
703170
|
criteria_provided,_single_submitter
|
missense_variant
|
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