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
14
78,816,108
G
A
true
3_prime_UTR
false
324
14
78,816,110
C
T
true
3_prime_UTR
false
325
7
83,300,122
C
T
true
missense
false
327
7
109,869,173
G
T
true
missense
false
328
7
12,657,038
G
T
true
synonymous
false
329
1
131,624,811
C
T
true
splice_polypyrimidine_tract
false
330
1
171,854,798
T
C
true
synonymous
false
331
5
38,659,466
G
A
true
5_prime_UTR
false
332
11
69,885,651
G
T
true
splice_region
false
333
11
5,040,702
C
T
true
3_prime_UTR
false
334
11
34,040,106
G
A
true
missense
false
335
11
76,906,039
T
C
true
missense
false
336
X
168,095,972
C
A
true
missense
false
337
17
24,822,124
A
G
true
3_prime_UTR
false
338
7
65,919,506
C
T
true
3_prime_UTR
false
339
13
4,641,182
C
T
true
3_prime_UTR
false
340
13
12,498,539
T
A
true
stop_gained
false
341
13
73,832,362
G
A
true
missense
false
342
11
68,712,275
C
T
true
stop_gained
false
345
11
68,891,416
C
T
true
5_prime_UTR
false
346
16
64,586,994
A
T
true
missense
false
347
11
42,073,073
G
T
true
3_prime_UTR
false
348
11
120,846,179
A
G
true
missense
false
349
2
57,935,954
G
T
true
3_prime_UTR
false
350
12
3,547,000
G
T
true
3_prime_UTR
false
351
12
98,200,501
G
A
true
3_prime_UTR
false
352
12
3,302,646
G
A
true
missense
false
353
9
70,049,741
C
G
true
missense
false
354
9
70,049,743
C
G
true
missense
false
355
9
70,049,745
C
G
true
splice_acceptor
false
356
8
111,615,542
A
G
true
splice_acceptor
false
357
5
137,376,856
G
A
true
synonymous
false
358
5
142,946,377
G
A
true
synonymous
false
359
5
101,045,748
A
G
true
missense
false
360
4
107,237,817
G
T
true
synonymous
false
361
4
107,237,818
G
T
true
synonymous
false
362
1
116,508,377
T
C
true
synonymous
false
364
1
37,489,385
C
A
true
missense
false
366
1
150,262,207
A
G
true
3_prime_UTR
false
367
1
12,941,089
T
A
true
5_prime_UTR
false
368
X
162,771,410
T
A
true
missense
false
369
X
23,086,957
C
T
true
missense
false
370
X
71,992,873
G
A
true
synonymous
false
371
11
69,326,073
G
A
true
missense
false
372
17
32,351,175
C
T
true
synonymous
false
373
17
87,688,747
A
G
true
missense
false
374
17
31,866,145
A
T
true
missense
false
375
11
53,039,772
A
C
true
missense
false
376
11
101,919,064
G
T
true
missense
false
377
11
33,113,019
G
A
true
stop_gained
false
380
7
141,237,951
C
T
true
synonymous
false
381
7
55,946,958
C
G
true
missense
false
382
6
128,792,147
T
G
true
splice_region
false
384
6
100,811,663
C
T
true
5_prime_UTR
false
385
6
100,811,669
C
T
true
5_prime_UTR
false
386
2
174,172,110
A
G
true
3_prime_UTR
false
387
2
127,352,792
G
A
true
3_prime_UTR
false
388
2
135,062,692
C
T
true
3_prime_UTR
false
389
10
26,862,875
C
A
true
splice_donor
false
390
2
31,246,329
G
C
true
missense
false
391
2
31,246,331
A
G
true
synonymous
false
392
2
34,664,639
T
C
true
stop_gained
false
393
2
34,835,552
T
A
true
3_prime_UTR
false
394
7
46,421,430
C
A
true
splice_polypyrimidine_tract
false
395
7
23,116,858
T
G
true
stop_gained
false
396
7
29,048,041
G
A
true
splice_acceptor
false
397
7
59,654,893
G
A
true
3_prime_UTR
false
398
2
76,469,541
T
A
true
3_prime_UTR
false
399
12
80,804,350
C
T
true
splice_acceptor
false
400
12
85,523,342
A
T
true
stop_gained
false
401
13
100,840,997
C
T
true
missense
false
402
13
13,818,721
G
A
true
missense
false
403
12
112,729,855
G
T
true
3_prime_UTR
false
404
16
97,361,608
G
C
true
missense
false
405
6
91,371,534
G
A
true
missense
false
406
11
76,101,876
G
C
true
missense
false
407
11
78,430,860
G
A
true
5_prime_UTR
false
408
11
78,364,393
G
A
true
5_prime_UTR
false
409
3
27,237,192
C
T
true
5_prime_UTR
false
410
3
88,240,307
C
T
true
3_prime_UTR
false
412
19
46,121,562
G
A
true
synonymous
false
413
19
24,533,251
A
G
true
3_prime_UTR
false
414
19
8,691,000
G
A
true
missense
false
415
19
40,340,915
C
T
true
synonymous
false
416
1
128,235,631
A
G
true
synonymous
false
418
12
100,089,404
G
A
true
splice_acceptor
false
419
3
116,689,260
C
T
true
splice_region
false
421
3
95,743,035
G
A
true
3_prime_UTR
false
422
17
74,138,783
G
T
true
splice_acceptor
false
423
17
74,138,786
G
T
true
missense
false
424
5
28,599,033
C
T
true
missense
false
425
10
10,658,528
C
T
true
missense
false
426
3
145,020,406
C
T
true
missense
false
427
3
89,266,476
G
A
true
splice_donor
false
428
3
137,618,434
T
C
true
3_prime_UTR
false
429
3
93,126,833
A
G
true
3_prime_UTR
false
430
3
89,117,754
A
T
true
missense
false
431
5
8,180,171
T
C
true
5_prime_UTR
false
432
5
134,276,240
G
T
true
synonymous
false
433
5
23,637,403
T
C
true
5_prime_UTR
false
434