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 |
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