chrom
stringclasses 21
values | pos
int64 726k
195M
| ref
stringclasses 4
values | alt
stringclasses 4
values | label
bool 2
classes | consequence
stringclasses 11
values | pcr_confirmed
bool 2
classes | __index_level_0__
int64 0
504k
|
|---|---|---|---|---|---|---|---|
17
| 26,726,153
|
A
|
T
| true
|
5_prime_UTR
| false
| 435
|
17
| 15,765,347
|
G
|
A
| true
|
synonymous
| false
| 436
|
17
| 3,567,014
|
T
|
A
| true
|
missense
| false
| 437
|
17
| 3,561,411
|
T
|
A
| true
|
missense
| false
| 438
|
10
| 81,014,913
|
A
|
T
| true
|
missense
| false
| 439
|
2
| 37,683,500
|
C
|
A
| true
|
missense
| false
| 440
|
15
| 59,887,164
|
C
|
T
| true
|
splice_polypyrimidine_tract
| false
| 441
|
7
| 16,545,343
|
A
|
G
| true
|
splice_polypyrimidine_tract
| false
| 442
|
7
| 27,217,844
|
A
|
G
| true
|
missense
| false
| 443
|
11
| 78,162,233
|
T
|
A
| true
|
missense
| false
| 444
|
11
| 69,446,978
|
C
|
T
| true
|
missense
| false
| 445
|
11
| 61,384,628
|
A
|
T
| true
|
missense
| false
| 446
|
11
| 68,879,035
|
C
|
T
| true
|
stop_gained
| false
| 447
|
9
| 71,633,166
|
G
|
A
| true
|
stop_gained
| false
| 448
|
19
| 56,469,615
|
T
|
C
| true
|
missense
| false
| 449
|
3
| 89,128,376
|
G
|
A
| true
|
missense
| false
| 450
|
10
| 14,634,707
|
C
|
T
| true
|
synonymous
| false
| 451
|
10
| 84,503,237
|
A
|
G
| true
|
missense
| false
| 452
|
13
| 100,192,844
|
A
|
G
| true
|
stop_gained
| false
| 453
|
17
| 37,299,981
|
C
|
T
| true
|
stop_gained
| false
| 454
|
16
| 95,059,343
|
T
|
C
| true
|
missense
| false
| 455
|
11
| 54,525,581
|
C
|
T
| true
|
synonymous
| false
| 456
|
3
| 67,499,954
|
G
|
A
| true
|
splice_donor_region
| false
| 458
|
7
| 25,085,148
|
G
|
A
| true
|
synonymous
| false
| 459
|
14
| 79,899,380
|
C
|
T
| true
|
synonymous
| false
| 460
|
11
| 100,637,758
|
C
|
T
| true
|
3_prime_UTR
| false
| 461
|
12
| 69,903,527
|
G
|
A
| true
|
missense
| false
| 462
|
13
| 114,745,547
|
T
|
G
| true
|
splice_donor_5th_base
| false
| 463
|
1
| 180,779,681
|
C
|
T
| true
|
stop_gained
| false
| 464
|
10
| 7,070,569
|
G
|
A
| true
|
missense
| false
| 466
|
10
| 116,612,816
|
T
|
G
| true
|
missense
| false
| 467
|
10
| 62,674,082
|
T
|
C
| true
|
missense
| false
| 468
|
17
| 28,276,239
|
T
|
G
| true
|
3_prime_UTR
| false
| 469
|
1
| 3,285,871
|
T
|
G
| false
|
3_prime_UTR
| false
| 0
|
1
| 3,286,064
|
G
|
A
| false
|
3_prime_UTR
| false
| 1
|
1
| 3,286,143
|
A
|
G
| false
|
3_prime_UTR
| false
| 2
|
1
| 3,286,242
|
A
|
G
| false
|
3_prime_UTR
| false
| 3
|
1
| 3,286,647
|
C
|
G
| false
|
synonymous
| false
| 4
|
1
| 3,286,659
|
A
|
G
| false
|
synonymous
| false
| 5
|
1
| 3,287,076
|
A
|
G
| false
|
synonymous
| false
| 6
|
1
| 3,492,138
|
T
|
C
| false
|
splice_polypyrimidine_tract
| false
| 7
|
1
| 4,069,857
|
A
|
C
| false
|
splice_polypyrimidine_tract
| false
| 8
|
1
| 4,095,051
|
C
|
T
| false
|
missense
| false
| 9
|
1
| 4,095,082
|
C
|
G
| false
|
synonymous
| false
| 10
|
1
| 4,112,169
|
G
|
A
| false
|
synonymous
| false
| 11
|
1
| 4,112,210
|
G
|
T
| false
|
missense
| false
| 12
|
1
| 4,112,219
|
T
|
A
| false
|
missense
| false
| 13
|
1
| 4,189,907
|
A
|
G
| false
|
synonymous
| false
| 14
|
1
| 4,218,050
|
T
|
C
| false
|
synonymous
| false
| 15
|
1
| 4,218,155
|
T
|
C
| false
|
synonymous
| false
| 16
|
1
| 4,240,605
|
C
|
A
| false
|
missense
| false
| 17
|
1
| 4,276,971
|
C
|
T
| false
|
synonymous
| false
| 18
|
1
| 4,298,829
|
C
|
G
| false
|
missense
| false
| 19
|
1
| 4,301,292
|
T
|
G
| false
|
missense
| false
| 20
|
1
| 4,301,359
|
C
|
T
| false
|
missense
| false
| 21
|
1
| 4,301,363
|
A
|
G
| false
|
synonymous
| false
| 22
|
1
| 4,313,408
|
A
|
G
| false
|
synonymous
| false
| 23
|
1
| 4,315,269
|
G
|
A
| false
|
missense
| false
| 24
|
1
| 4,326,657
|
T
|
C
| false
|
splice_region
| false
| 25
|
1
| 4,337,851
|
T
|
C
| false
|
splice_region
| false
| 26
|
1
| 4,363,209
|
C
|
T
| false
|
synonymous
| false
| 27
|
1
| 4,414,373
|
A
|
G
| false
|
3_prime_UTR
| false
| 28
|
1
| 4,414,387
|
C
|
T
| false
|
3_prime_UTR
| false
| 29
|
1
| 4,414,402
|
G
|
A
| false
|
3_prime_UTR
| false
| 30
|
1
| 4,414,491
|
T
|
C
| false
|
3_prime_UTR
| false
| 31
|
1
| 4,414,507
|
A
|
G
| false
|
3_prime_UTR
| false
| 32
|
1
| 4,414,634
|
C
|
T
| false
|
3_prime_UTR
| false
| 33
|
1
| 4,414,699
|
T
|
G
| false
|
3_prime_UTR
| false
| 34
|
1
| 4,414,844
|
G
|
A
| false
|
synonymous
| false
| 35
|
1
| 4,415,018
|
C
|
T
| false
|
synonymous
| false
| 36
|
1
| 4,415,043
|
T
|
C
| false
|
missense
| false
| 37
|
1
| 4,415,127
|
G
|
A
| false
|
missense
| false
| 38
|
1
| 4,415,521
|
C
|
T
| false
|
missense
| false
| 39
|
1
| 4,415,821
|
G
|
A
| false
|
synonymous
| false
| 40
|
1
| 4,415,925
|
C
|
G
| false
|
missense
| false
| 41
|
1
| 4,416,020
|
T
|
C
| false
|
synonymous
| false
| 42
|
1
| 4,416,125
|
T
|
C
| false
|
missense
| false
| 43
|
1
| 4,416,140
|
G
|
A
| false
|
synonymous
| false
| 44
|
1
| 4,416,192
|
G
|
C
| false
|
missense
| false
| 45
|
1
| 4,416,208
|
G
|
C
| false
|
missense
| false
| 46
|
1
| 4,416,366
|
C
|
T
| false
|
missense
| false
| 47
|
1
| 4,416,386
|
A
|
T
| false
|
synonymous
| false
| 48
|
1
| 4,416,392
|
T
|
G
| false
|
synonymous
| false
| 49
|
1
| 4,416,433
|
T
|
C
| false
|
missense
| false
| 50
|
1
| 4,416,466
|
G
|
C
| false
|
missense
| false
| 51
|
1
| 4,416,632
|
A
|
T
| false
|
synonymous
| false
| 52
|
1
| 4,416,769
|
T
|
C
| false
|
missense
| false
| 53
|
1
| 4,417,049
|
G
|
A
| false
|
synonymous
| false
| 54
|
1
| 4,417,125
|
G
|
A
| false
|
missense
| false
| 55
|
1
| 4,417,137
|
T
|
G
| false
|
missense
| false
| 56
|
1
| 4,417,174
|
T
|
C
| false
|
missense
| false
| 57
|
1
| 4,417,293
|
C
|
T
| false
|
missense
| false
| 58
|
1
| 4,417,297
|
T
|
G
| false
|
missense
| false
| 59
|
1
| 4,417,340
|
A
|
G
| false
|
synonymous
| false
| 60
|
1
| 4,417,492
|
T
|
C
| false
|
missense
| false
| 61
|
1
| 4,417,676
|
A
|
T
| false
|
synonymous
| false
| 62
|
1
| 4,417,734
|
G
|
T
| false
|
missense
| false
| 63
|
1
| 4,417,900
|
A
|
G
| false
|
synonymous
| false
| 64
|
1
| 4,417,910
|
G
|
A
| false
|
synonymous
| false
| 65
|
1
| 4,418,006
|
C
|
T
| false
|
synonymous
| false
| 66
|
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