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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