variant_id string | protein_id string | pos1 int32 | wt_aa string | mut_aa string | seq_len int32 | GeneSymbol string | VariationID int64 | label int8 | split string | source string | stars float32 | cluster string | mut_seq_override string |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NP_000251.3_G1782A | NP_000251.3 | 1,782 | G | A | 2,215 | null | null | 1 | test | existing | null | NP_000251.3 | null |
NP_000242.1_R524P | NP_000242.1 | 524 | R | P | 934 | MSH2 | 1,759 | 1 | test | existing | 3 | NP_001393582.1 | null |
NP_036425.1_V1022M | NP_036425.1 | 1,022 | V | M | 1,479 | PXDN | 772,109 | 0 | test | existing | 1 | NP_653252.4 | null |
NP_004637.1_M389I | NP_004637.1 | 389 | M | I | 1,241 | NPHS1 | 1,966,495 | 0 | test | existing | 1 | NP_004637.1 | null |
NP_000242.1_D295A | NP_000242.1 | 295 | D | A | 934 | MSH2 | 1,764,866 | 0 | test | existing | 1 | NP_001393582.1 | null |
NP_849164.2_R229H | NP_849164.2 | 229 | R | H | 383 | CERS3 | 2,429,320 | 1 | test | existing | 1 | NP_849164.2 | null |
NP_742105.1_S195P | NP_742105.1 | 195 | S | P | 872 | KCNQ2 | 205,866 | 1 | test | existing | 2 | NP_001191753.1 | null |
NP_000240.1_L653P | NP_000240.1 | 653 | L | P | 756 | MLH1 | 216,336 | 1 | test | existing | 2 | NP_001341549.1 | null |
NP_054722.2_S969F | NP_054722.2 | 969 | S | F | 1,227 | DHX38 | 791,648 | 0 | test | existing | 2 | NP_054722.2 | null |
NP_003150.1_V999M | NP_003150.1 | 999 | V | M | 1,030 | CDKL5;RS1 | 94,110 | 0 | test | existing | 2 | NP_001310218.1 | null |
NP_000251.3_G519D | NP_000251.3 | 519 | G | D | 2,215 | MYO7A | 43,151 | 1 | test | existing | 2 | NP_000251.3 | null |
NP_000245.2_D919G | NP_000245.2 | 919 | D | G | 1,265 | MTR | 138,289 | 0 | test | existing | 2 | NP_000245.2 | null |
NP_000035.2_A736D | NP_000035.2 | 736 | A | D | 920 | AR | 2,445,373 | 1 | test | existing | 1 | NP_000035.2 | null |
NP_000243.1_T186I | NP_000243.1 | 186 | T | I | 603 | MTM1 | 158,982 | 1 | test | existing | 2 | NP_056273.2 | null |
NP_056375.2_R290Q | NP_056375.2 | 290 | R | Q | 960 | OPA1 | 5,084 | 1 | test | existing | 2 | NP_056375.2 | null |
NP_004966.1_A552T | NP_004966.1 | 552 | A | T | 858 | KCNB1 | 1,215,098 | 0 | test | existing | 2 | NP_004966.1 | null |
NP_001839.2_G311D | NP_001839.2 | 311 | G | D | 1,028 | COL6A1 | 289,651 | 1 | test | existing | 2 | NP_001840.3 | null |
NP_004264.2_A389P | NP_004264.2 | 389 | A | P | 479 | CHST3 | 1,332,850 | 1 | test | existing | 1 | NP_004264.2 | null |
NP_060798.2_D1094N | NP_060798.2 | 1,094 | D | N | 1,494 | MBD5 | 755,372 | 0 | test | existing | 1 | NP_060798.2 | null |
NP_000021.1_P11R | NP_000021.1 | 11 | P | R | 392 | AGXT | 204,069 | 1 | test | existing | 2 | NP_000021.1 | null |
NP_000892.2_E35Q | NP_000892.2 | 35 | E | Q | 984 | NR3C2 | 347,738 | 0 | test | existing | 2 | NP_000892.2 | null |
NP_036318.1_D156N | NP_036318.1 | 156 | D | N | 319 | FOXE3 | 617,852 | 0 | test | existing | 2 | NP_004464.2 | null |
NP_006507.2_V165I | NP_006507.2 | 165 | V | I | 492 | SLC2A1 | 379,258 | 1 | test | existing | 2 | NP_001315549.1 | null |
NP_008825.4_D132H | NP_008825.4 | 132 | D | H | 532 | FMO3 | 260,072 | 0 | test | existing | 2 | NP_008825.4 | null |
NP_000268.1_G289R | NP_000268.1 | 289 | G | R | 452 | PAH | 102,882 | 1 | test | existing | 3 | NP_004170.1 | null |
NP_443077.1_R186W | NP_443077.1 | 186 | R | W | 250 | MMAB | 3,095 | 1 | test | existing | 2 | NP_443077.1 | null |
NP_000780.1_P202L | NP_000780.1 | 202 | P | L | 1,306 | null | null | 0 | test | existing | null | NP_001369629.1 | null |
NP_000243.1_G378V | NP_000243.1 | 378 | G | V | 603 | MTM1 | 1,028,156 | 1 | test | existing | 1 | NP_056273.2 | null |
NP_002171.2_R946W | NP_002171.2 | 946 | R | W | 993 | IGHMBP2 | 245,633 | 0 | test | existing | 2 | NP_002171.2 | null |
NP_006507.2_N34K | NP_006507.2 | 34 | N | K | 492 | SLC2A1 | 666,289 | 1 | test | existing | 1 | NP_001315549.1 | null |
NP_000268.1_A309S | NP_000268.1 | 309 | A | S | 452 | PAH | 1,468,012 | 1 | test | existing | 1 | NP_004170.1 | null |
NP_000425.1_L302V | NP_000425.1 | 302 | L | V | 415 | NEU1 | 2,040,993 | 0 | test | existing | 1 | NP_000425.1 | null |
NP_005328.2_T730M | NP_005328.2 | 730 | T | M | 1,127 | NCKAP1L | 2,046,294 | 0 | test | existing | 1 | NP_005328.2 | null |
NP_055496.2_T991M | NP_055496.2 | 991 | T | M | 1,143 | DHX34 | 2,458,359 | 0 | test | existing | 1 | NP_055496.2 | null |
NP_115763.2_A31E | NP_115763.2 | 31 | A | E | 1,243 | WNK4 | 889,956 | 0 | test | existing | 2 | NP_115763.2 | null |
NP_001070884.2_D362E | NP_001070884.2 | 362 | D | E | 369 | TMEM231 | 786,835 | 0 | test | existing | 2 | NP_001070886.1 | null |
NP_000243.1_D443A | NP_000243.1 | 443 | D | A | 603 | MTM1 | 158,919 | 1 | test | existing | 1 | NP_056273.2 | null |
NP_006281.1_F127C | NP_006281.1 | 127 | F | C | 790 | TNFAIP3 | 135,334 | 0 | test | existing | 2 | NP_006281.1 | null |
NP_000491.4_G292R | NP_000491.4 | 292 | G | R | 495 | CYP21A2 | 1,498,831 | 1 | test | existing | 1 | NP_000763.1 | null |
NP_003485.1_T1622K | NP_003485.1 | 1,622 | T | K | 2,080 | null | null | 0 | test | existing | null | NP_001124459.1 | null |
NP_742105.1_M208V | NP_742105.1 | 208 | M | V | 872 | KCNQ2 | 21,793 | 1 | test | existing | 1 | NP_001191753.1 | null |
NP_002238.2_D950N | NP_002238.2 | 950 | D | N | 1,178 | KCNMA1 | 978,933 | 1 | test | existing | 2 | NP_001027006.2 | null |
NP_004628.4_T168M | NP_004628.4 | 168 | T | M | 207 | null | null | 0 | test | existing | null | NP_653194.1 | null |
NP_065071.1_K91R | NP_065071.1 | 91 | K | R | 1,067 | ZMIZ1 | 487,354 | 1 | test | existing | 1 | NP_113637.3 | null |
NP_000147.1_W45R | NP_000147.1 | 45 | W | R | 236 | GAMT | 328,352 | 1 | test | existing | 3 | NP_000147.1 | null |
NP_000274.3_P125A | NP_000274.3 | 125 | P | A | 854 | PDE6B | 281,812 | 0 | test | existing | 2 | NP_000274.3 | null |
NP_056374.2_D1389G | NP_056374.2 | 1,389 | D | G | 1,596 | null | null | 0 | test | existing | null | NP_056374.2 | null |
NP_006281.1_P587L | NP_006281.1 | 587 | P | L | 790 | TNFAIP3 | 1,667,172 | 0 | test | existing | 1 | NP_006281.1 | null |
NP_054733.2_S1087L | NP_054733.2 | 1,087 | S | L | 2,136 | SNRNP200 | 7,928 | 1 | test | existing | 2 | NP_006819.2 | null |
NP_001258750.1_T96K | NP_001258750.1 | 96 | T | K | 219 | TREM2 | 356,678 | 0 | test | existing | 2 | NP_001258750.1 | null |
NP_001840.3_D1001E | NP_001840.3 | 1,001 | D | E | 1,019 | COL6A2 | 340,388 | 0 | test | existing | 2 | NP_001840.3 | null |
NP_002606.3_P132R | NP_002606.3 | 132 | P | R | 418 | SERPINF1 | 322,004 | 0 | test | existing | 2 | NP_002606.3 | null |
NP_002769.1_C241G | NP_002769.1 | 241 | C | G | 524 | PSAP | 1,676,842 | 1 | test | existing | 1 | NP_001078851.1 | null |
NP_004966.1_M375V | NP_004966.1 | 375 | M | V | 858 | KCNB1 | 957,470 | 1 | test | existing | 1 | NP_004966.1 | null |
NP_000243.1_D380V | NP_000243.1 | 380 | D | V | 603 | MTM1 | 158,900 | 1 | test | existing | 1 | NP_056273.2 | null |
NP_653213.6_Q1150R | NP_653213.6 | 1,150 | Q | R | 2,211 | null | null | 0 | test | existing | null | NP_653213.6 | null |
NP_000483.3_A46D | NP_000483.3 | 46 | A | D | 1,480 | CFTR | 53,238 | 1 | test | existing | 3 | NP_005836.2 | null |
NP_068712.1_M308R | NP_068712.1 | 308 | M | R | 473 | GABRB3 | 1,364,700 | 1 | test | existing | 1 | NP_068712.1 | null |
NP_001278.1_E313K | NP_001278.1 | 313 | E | K | 805 | null | null | 1 | test | existing | null | NP_001821.2 | null |
NP_000240.1_L155R | NP_000240.1 | 155 | L | R | 756 | MLH1 | 90,241 | 1 | test | existing | 3 | NP_001341549.1 | null |
NP_004046.2_R438S | NP_004046.2 | 438 | R | S | 640 | null | null | 0 | test | existing | null | NP_004046.2 | null |
NP_000251.3_M850V | NP_000251.3 | 850 | M | V | 2,215 | MYO7A | 2,175,493 | 0 | test | existing | 1 | NP_000251.3 | null |
NP_056374.2_G870S | NP_056374.2 | 870 | G | S | 1,596 | SETBP1 | 1,035 | 1 | test | existing | 2 | NP_056374.2 | null |
NP_060798.2_R1147Q | NP_060798.2 | 1,147 | R | Q | 1,494 | MBD5 | 206,118 | 0 | test | existing | 2 | NP_060798.2 | null |
NP_000268.1_F55S | NP_000268.1 | 55 | F | S | 452 | PAH | 120,266 | 1 | test | existing | 3 | NP_004170.1 | null |
NP_000052.1_R525G | NP_000052.1 | 525 | R | G | 659 | BTK | 663,091 | 1 | test | existing | 1 | NP_005537.3 | null |
NP_000483.3_R347L | NP_000483.3 | 347 | R | L | 1,480 | CFTR | 7,171 | 1 | test | existing | 2 | NP_005836.2 | null |
NP_004199.1_R422W | NP_004199.1 | 422 | R | W | 613 | AIFM1 | 162,479 | 1 | test | existing | 2 | NP_665811.1 | null |
NP_001288.3_G238S | NP_001288.3 | 238 | G | S | 1,251 | CNGB1 | 93,704 | 0 | test | existing | 2 | NP_001288.3 | null |
NP_004367.2_I347T | NP_004367.2 | 347 | I | T | 388 | COX15 | 722,849 | 0 | test | existing | 1 | NP_001358954.1 | null |
NP_775771.3_T566K | NP_775771.3 | 566 | T | K | 1,244 | null | null | 0 | test | existing | null | NP_775771.3 | null |
NP_000052.1_T117P | NP_000052.1 | 117 | T | P | 659 | BTK | 1,359,343 | 1 | test | existing | 1 | NP_005537.3 | null |
NP_000956.2_W218C | NP_000956.2 | 218 | W | C | 448 | RARB | 1,710,327 | 1 | test | existing | 1 | NP_955366.1 | null |
NP_001003800.1_M784V | NP_001003800.1 | 784 | M | V | 855 | BICD2 | 541,292 | 0 | test | existing | 2 | NP_001003800.1 | null |
NP_000249.1_M149I | NP_000249.1 | 149 | M | I | 195 | MYL3 | 181,444 | 1 | test | existing | 2 | NP_524144.1 | null |
NP_000138.2_P146L | NP_000138.2 | 146 | P | L | 466 | FUCA1 | 296,889 | 0 | test | existing | 2 | NP_000138.2 | null |
NP_056080.1_M418R | NP_056080.1 | 418 | M | R | 733 | SATB2 | 521,523 | 1 | test | existing | 2 | NP_056080.1 | null |
NP_000251.3_T2109I | NP_000251.3 | 2,109 | T | I | 2,215 | MYO7A | 164,724 | 1 | test | existing | 3 | NP_000251.3 | null |
NP_066566.3_G359R | NP_066566.3 | 359 | G | R | 555 | DAB1 | 221,922 | 0 | test | existing | 1 | NP_066566.3 | null |
NP_001307127.1_R66H | NP_001307127.1 | 66 | R | H | 486 | KRT86 | 66,547 | 0 | test | existing | 2 | NP_004684.2 | null |
NP_000483.3_H897Y | NP_000483.3 | 897 | H | Y | 1,480 | null | null | 0 | test | existing | null | NP_005836.2 | null |
NP_112224.1_I1565V | NP_112224.1 | 1,565 | I | V | 1,849 | SBF2 | 381,819 | 0 | test | existing | 2 | NP_112224.1 | null |
NP_001547.1_F734L | NP_001547.1 | 734 | F | L | 756 | IKBKB | 1,109,884 | 0 | test | existing | 2 | NP_001229707.1 | null |
NP_001357188.2_C241Y | NP_001357188.2 | 241 | C | Y | 610 | MEN1 | 200,980 | 1 | test | existing | 2 | NP_001357188.2 | null |
NP_612422.2_G76D | NP_612422.2 | 76 | G | D | 327 | HOGA1 | 204,280 | 1 | test | existing | 2 | NP_612422.2 | null |
NP_892003.2_T456S | NP_892003.2 | 456 | T | S | 467 | KAT8 | 2,340,050 | 0 | test | existing | 1 | NP_892003.2 | null |
NP_000534.3_G579S | NP_000534.3 | 579 | G | S | 631 | SMPD1 | 2,982 | 1 | test | existing | 2 | NP_000534.3 | null |
NP_000483.3_Y563C | NP_000483.3 | 563 | Y | C | 1,480 | CFTR | 1,706,063 | 1 | test | existing | 2 | NP_005836.2 | null |
NP_742105.1_V103D | NP_742105.1 | 103 | V | D | 872 | KCNQ2 | 1,426,976 | 1 | test | existing | 1 | NP_001191753.1 | null |
NP_078790.2_L99P | NP_078790.2 | 99 | L | P | 501 | CYP2R1 | 2,134 | 1 | test | existing | 2 | NP_000763.1 | null |
NP_009125.1_P21S | NP_009125.1 | 21 | P | S | 543 | CHEK2 | 1,752,167 | 0 | test | existing | 1 | NP_009125.1 | null |
NP_005546.2_I178N | NP_005546.2 | 178 | I | N | 564 | KRT6B | 430,318 | 1 | test | existing | 1 | NP_004684.2 | null |
NP_002240.3_H155Q | NP_002240.3 | 155 | H | Q | 731 | KCNN3 | 2,471,884 | 0 | test | existing | 1 | NP_002240.3 | null |
NP_001357188.2_S178C | NP_001357188.2 | 178 | S | C | 610 | MEN1 | 988,365 | 1 | test | existing | 1 | NP_001357188.2 | null |
NP_938011.1_D470N | NP_938011.1 | 470 | D | N | 1,630 | NHS | 1,955,030 | 0 | test | existing | 2 | NP_001129496.1 | null |
NP_003051.1_S28R | NP_003051.1 | 28 | S | R | 557 | SLC22A5 | 1,472,873 | 1 | test | existing | 1 | NP_003050.2 | null |
NP_004966.1_V349F | NP_004966.1 | 349 | V | F | 858 | KCNB1 | 633,624 | 1 | test | existing | 2 | NP_004966.1 | null |
NP_001840.3_Q888R | NP_001840.3 | 888 | Q | R | 1,019 | COL6A2 | 1,491,901 | 0 | test | existing | 1 | NP_001840.3 | null |
NP_000651.3_R218H | NP_000651.3 | 218 | R | H | 390 | TGFB1 | 12,529 | 1 | test | existing | 2 | NP_000651.3 | null |
NP_004378.1_F145L | NP_004378.1 | 145 | F | L | 324 | NKX2-5 | 1,515,823 | 1 | test | existing | 1 | NP_001129743.2 | null |
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