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_079408.3_A914D | NP_079408.3 | 914 | A | D | 1,342 | WDR19 | 974,371 | 1 | test | existing | 1 | NP_079408.3 | null |
NP_005984.3_G842R | NP_005984.3 | 842 | G | R | 1,192 | TBCD | 2,356,642 | 0 | test | existing | 2 | NP_005984.3 | null |
NP_056374.2_T1010I | NP_056374.2 | 1,010 | T | I | 1,596 | SETBP1 | 1,432,713 | 0 | test | existing | 1 | NP_056374.2 | null |
NP_056089.1_R28Q | NP_056089.1 | 28 | R | Q | 1,009 | MAN2B2 | 2,336,220 | 0 | test | existing | 1 | NP_056089.1 | null |
NP_060956.1_S199T | NP_060956.1 | 199 | S | T | 377 | HDAC8 | 372,994 | 1 | test | existing | 1 | NP_060956.1 | null |
NP_075462.3_V422I | NP_075462.3 | 422 | V | I | 605 | DNAI2 | 1,145,347 | 0 | test | existing | 1 | NP_075462.3 | null |
NP_000525.1_E537K | NP_000525.1 | 537 | E | K | 932 | PMS1 | 135,055 | 0 | test | existing | 2 | NP_000525.1 | null |
NP_006010.2_G410R | NP_006010.2 | 410 | G | R | 830 | TCIRG1 | 3,769,171 | 1 | test | existing | 1 | NP_001365459.1 | null |
NP_000242.1_T807S | NP_000242.1 | 807 | T | S | 934 | null | null | 0 | test | existing | null | NP_001393582.1 | null |
NP_001008537.1_N934S | NP_001008537.1 | 934 | N | S | 1,516 | NEXMIF | 474,066 | 0 | test | existing | 2 | NP_001008537.1 | null |
NP_056375.2_H20Y | NP_056375.2 | 20 | H | Y | 960 | OPA1 | 2,176,959 | 0 | test | existing | 1 | NP_056375.2 | null |
NP_037471.2_G222D | NP_037471.2 | 222 | G | D | 507 | ALG6 | 739,743 | 0 | test | existing | 1 | NP_037471.2 | null |
NP_057616.2_S57A | NP_057616.2 | 57 | S | A | 448 | INPP5K | 746,037 | 0 | test | existing | 2 | NP_057616.2 | null |
NP_742105.1_P285S | NP_742105.1 | 285 | P | S | 872 | KCNQ2 | 975,869 | 1 | test | existing | 2 | NP_001191753.1 | null |
NP_001005463.1_V219A | NP_001005463.1 | 219 | V | A | 551 | EBF3 | 976,694 | 1 | test | existing | 1 | NP_001005463.1 | null |
NP_004637.1_E45K | NP_004637.1 | 45 | E | K | 1,241 | null | null | 0 | test | existing | null | NP_004637.1 | null |
NP_056512.5_Y297C | NP_056512.5 | 297 | Y | C | 421 | COQ2 | 1,436 | 1 | test | existing | 1 | NP_056512.5 | null |
NP_000242.1_L478R | NP_000242.1 | 478 | L | R | 934 | MSH2 | 1,772,564 | 1 | test | existing | 2 | NP_001393582.1 | null |
NP_000251.3_S1471P | NP_000251.3 | 1,471 | S | P | 2,215 | MYO7A | 43,239 | 1 | test | existing | 2 | NP_000251.3 | null |
NP_056999.2_H258R | NP_056999.2 | 258 | H | R | 558 | ATL1 | 4,348 | 1 | test | existing | 2 | NP_056274.3 | null |
NP_006507.2_R92W | NP_006507.2 | 92 | R | W | 492 | SLC2A1 | 16,119 | 1 | test | existing | 2 | NP_001315549.1 | null |
NP_001008537.1_S1167G | NP_001008537.1 | 1,167 | S | G | 1,516 | NEXMIF | 2,190,668 | 0 | test | existing | 1 | NP_001008537.1 | null |
NP_742105.1_G574S | NP_742105.1 | 574 | G | S | 872 | KCNQ2 | 1,022,468 | 1 | test | existing | 2 | NP_001191753.1 | null |
NP_001369746.2_G255S | NP_001369746.2 | 255 | G | S | 476 | null | null | 0 | test | existing | null | NP_001369746.2 | null |
NP_115763.2_Q742E | NP_115763.2 | 742 | Q | E | 1,243 | WNK4 | 718,799 | 0 | test | existing | 2 | NP_115763.2 | null |
NP_056999.2_L157S | NP_056999.2 | 157 | L | S | 558 | ATL1 | 989,013 | 1 | test | existing | 1 | NP_056274.3 | null |
NP_001289.1_E198K | NP_001289.1 | 198 | E | K | 694 | CNGA3 | 377,069 | 0 | test | existing | 2 | NP_001032406.1 | null |
NP_060798.2_K312N | NP_060798.2 | 312 | K | N | 1,494 | MBD5 | 653,969 | 0 | test | existing | 1 | NP_060798.2 | null |
NP_000801.1_Y244H | NP_000801.1 | 244 | Y | H | 462 | GABRA5 | 2,430,088 | 0 | test | existing | 1 | NP_068712.1 | null |
NP_003009.2_L55F | NP_003009.2 | 55 | L | F | 197 | SFTPC | 598,978 | 1 | test | existing | 2 | NP_003009.2 | null |
NP_000243.1_V49F | NP_000243.1 | 49 | V | F | 603 | MTM1 | 158,940 | 1 | test | existing | 1 | NP_056273.2 | null |
NP_000242.1_P652H | NP_000242.1 | 652 | P | H | 934 | MSH2 | 90,823 | 1 | test | existing | 3 | NP_001393582.1 | null |
NP_001840.3_D955N | NP_001840.3 | 955 | D | N | 1,019 | null | null | 0 | test | existing | null | NP_001840.3 | null |
NP_000797.2_M263T | NP_000797.2 | 263 | M | T | 456 | GABRA1 | 2,136,351 | 1 | test | existing | 1 | NP_068712.1 | null |
NP_690870.3_R26K | NP_690870.3 | 26 | R | K | 276 | TANGO2 | 378,699 | 1 | test | existing | 1 | NP_690870.3 | null |
NP_000242.1_L312P | NP_000242.1 | 312 | L | P | 934 | null | null | 0 | test | existing | null | NP_001393582.1 | null |
NP_001866.2_R587H | NP_001866.2 | 587 | R | H | 1,500 | CPS1 | 549,934 | 1 | test | existing | 2 | NP_001866.2 | null |
NP_742105.1_A306P | NP_742105.1 | 306 | A | P | 872 | KCNQ2 | 205,888 | 1 | test | existing | 2 | NP_001191753.1 | null |
NP_000078.3_M647T | NP_000078.3 | 647 | M | T | 686 | CNGA1 | 2,186,749 | 0 | test | existing | 1 | NP_001032406.1 | null |
NP_001019242.1_L92I | NP_001019242.1 | 92 | L | I | 213 | null | null | 1 | test | existing | null | NP_001019242.1 | null |
NP_000035.2_A141T | NP_000035.2 | 141 | A | T | 920 | AR | 434,258 | 0 | test | existing | 1 | NP_000035.2 | null |
NP_002290.2_R1455C | NP_002290.2 | 1,455 | R | C | 1,927 | LCT | 982,558 | 1 | test | existing | 1 | NP_002290.2 | null |
NP_060552.4_A760T | NP_060552.4 | 760 | A | T | 1,133 | null | null | 1 | test | existing | null | NP_060552.4 | null |
NP_006507.2_T295M | NP_006507.2 | 295 | T | M | 492 | SLC2A1 | 207,229 | 1 | test | existing | 2 | NP_001315549.1 | null |
NP_001123617.1_P278S | NP_001123617.1 | 278 | P | S | 504 | YAP1 | 802,714 | 0 | test | existing | 2 | NP_001123617.1 | null |
NP_055496.2_P86S | NP_055496.2 | 86 | P | S | 1,143 | null | null | 0 | test | existing | null | NP_055496.2 | null |
NP_000268.1_V190A | NP_000268.1 | 190 | V | A | 452 | PAH | 102,740 | 1 | test | existing | 2 | NP_004170.1 | null |
NP_056374.2_R918Q | NP_056374.2 | 918 | R | Q | 1,596 | null | null | 0 | test | existing | null | NP_056374.2 | null |
NP_338599.1_H124D | NP_338599.1 | 124 | H | D | 314 | TREX1 | 429,418 | 1 | test | existing | 1 | NP_338599.1 | null |
NP_000052.1_V335D | NP_000052.1 | 335 | V | D | 659 | BTK | 619,022 | 1 | test | existing | 1 | NP_005537.3 | null |
NP_000035.2_A766D | NP_000035.2 | 766 | A | D | 920 | AR | 419,720 | 1 | test | existing | 1 | NP_000035.2 | null |
NP_008825.4_R387H | NP_008825.4 | 387 | R | H | 532 | null | null | 1 | test | existing | null | NP_008825.4 | null |
NP_001305781.1_E462G | NP_001305781.1 | 462 | E | G | 1,337 | MAPK8IP3 | 916,591 | 1 | test | existing | 2 | NP_001124000.1 | null |
NP_002769.1_L6F | NP_002769.1 | 6 | L | F | 524 | PSAP | 791,718 | 0 | test | existing | 2 | NP_001078851.1 | null |
NP_783328.1_G543S | NP_783328.1 | 543 | G | S | 912 | DNMT3A | 2,431,485 | 1 | test | existing | 1 | NP_001307822.1 | null |
NP_001278.1_R526W | NP_001278.1 | 526 | R | W | 805 | CLCN7 | 1,453,929 | 1 | test | existing | 2 | NP_001821.2 | null |
NP_058648.4_P351A | NP_058648.4 | 351 | P | A | 1,264 | CDON | 260,781 | 0 | test | existing | 2 | NP_001374848.1 | null |
NP_000268.1_A345S | NP_000268.1 | 345 | A | S | 452 | PAH | 102,484 | 1 | test | existing | 3 | NP_004170.1 | null |
NP_002046.1_L264P | NP_002046.1 | 264 | L | P | 432 | GFAP | 190,346 | 1 | test | existing | 1 | NP_116116.1 | null |
NP_003592.3_A56S | NP_003592.3 | 56 | A | S | 1,052 | SMARCA5 | 2,409,961 | 0 | test | existing | 1 | NP_003592.3 | null |
NP_783328.1_G298W | NP_783328.1 | 298 | G | W | 912 | DNMT3A | 208,714 | 1 | test | existing | 1 | NP_001307822.1 | null |
NP_938012.2_K438M | NP_938012.2 | 438 | K | M | 560 | LMOD3 | 475,302 | 0 | test | existing | 2 | NP_997046.1 | null |
NP_078875.4_V11M | NP_078875.4 | 11 | V | M | 856 | null | null | 0 | test | existing | null | NP_071895.3 | null |
NP_001129277.1_V420A | NP_001129277.1 | 420 | V | A | 422 | SYT1 | 2,366,135 | 0 | test | existing | 1 | NP_001277261.2 | null |
NP_001222.3_H72R | NP_001222.3 | 72 | H | R | 396 | CASQ1 | 788,843 | 0 | test | existing | 2 | NP_001222.3 | null |
NP_001308943.1_K815R | NP_001308943.1 | 815 | K | R | 873 | null | null | 0 | test | existing | null | NP_001308943.1 | null |
NP_001003800.1_A326S | NP_001003800.1 | 326 | A | S | 855 | BICD2 | 1,439,785 | 0 | test | existing | 1 | NP_001003800.1 | null |
NP_055151.3_A128V | NP_055151.3 | 128 | A | V | 384 | null | null | 0 | test | existing | null | NP_055151.3 | null |
NP_742105.1_S314P | NP_742105.1 | 314 | S | P | 872 | KCNQ2 | 421,323 | 1 | test | existing | 1 | NP_001191753.1 | null |
NP_000491.4_P31L | NP_000491.4 | 31 | P | L | 495 | CYP21A2 | 12,153 | 1 | test | existing | 2 | NP_000763.1 | null |
NP_056374.2_K368E | NP_056374.2 | 368 | K | E | 1,596 | SETBP1 | 2,014,908 | 0 | test | existing | 1 | NP_056374.2 | null |
NP_000251.3_E1510K | NP_000251.3 | 1,510 | E | K | 2,215 | MYO7A | 1,799,550 | 1 | test | existing | 1 | NP_000251.3 | null |
NP_001182399.1_E407Q | NP_001182399.1 | 407 | E | Q | 795 | SATB1 | 1,050,816 | 1 | test | existing | 2 | NP_056080.1 | null |
NP_004966.1_A819T | NP_004966.1 | 819 | A | T | 858 | KCNB1 | 833,994 | 0 | test | existing | 1 | NP_004966.1 | null |
NP_001123617.1_N452D | NP_001123617.1 | 452 | N | D | 504 | YAP1 | 722,492 | 0 | test | existing | 1 | NP_001123617.1 | null |
NP_060798.2_R1439C | NP_060798.2 | 1,439 | R | C | 1,494 | MBD5 | 833,973 | 0 | test | existing | 1 | NP_060798.2 | null |
NP_000178.2_P274L | NP_000178.2 | 274 | P | L | 445 | HGD | 1,495,077 | 1 | test | existing | 1 | NP_000178.2 | null |
NP_690870.3_D245E | NP_690870.3 | 245 | D | E | 276 | TANGO2 | 781,599 | 0 | test | existing | 2 | NP_690870.3 | null |
NP_001121370.1_I266V | NP_001121370.1 | 266 | I | V | 816 | CLCN5 | 1,086,253 | 0 | test | existing | 2 | NP_001821.2 | null |
NP_064716.2_K412N | NP_064716.2 | 412 | K | N | 578 | null | null | 0 | test | existing | null | NP_064716.2 | null |
NP_000425.1_R347Q | NP_000425.1 | 347 | R | Q | 415 | NEU1 | 946,980 | 1 | test | existing | 1 | NP_000425.1 | null |
NP_000527.2_N173S | NP_000527.2 | 173 | N | S | 527 | null | null | 1 | test | existing | null | NP_000527.2 | null |
NP_004954.2_F281L | NP_004954.2 | 281 | F | L | 1,073 | GUCY2C | 1,170,460 | 0 | test | existing | 2 | NP_003986.2 | null |
NP_056999.2_V40F | NP_056999.2 | 40 | V | F | 558 | ATL1 | 989,012 | 1 | test | existing | 1 | NP_056274.3 | null |
NP_002290.2_S101G | NP_002290.2 | 101 | S | G | 1,927 | LCT | 708,530 | 0 | test | existing | 2 | NP_002290.2 | null |
NP_003051.1_S38C | NP_003051.1 | 38 | S | C | 557 | SLC22A5 | 1,911,614 | 1 | test | existing | 1 | NP_003050.2 | null |
NP_000483.3_L69R | NP_000483.3 | 69 | L | R | 1,480 | CFTR | 1,706,067 | 1 | test | existing | 1 | NP_005836.2 | null |
NP_003212.2_A275D | NP_003212.2 | 275 | A | D | 460 | TFAP2B | 8,039 | 1 | test | existing | 1 | NP_003212.2 | null |
NP_001003800.1_R566H | NP_001003800.1 | 566 | R | H | 855 | BICD2 | 1,057,994 | 0 | test | existing | 1 | NP_001003800.1 | null |
NP_001289.1_G572D | NP_001289.1 | 572 | G | D | 694 | CNGA3 | 1,995,478 | 1 | test | existing | 1 | NP_001032406.1 | null |
NP_000251.3_G1298E | NP_000251.3 | 1,298 | G | E | 2,215 | null | null | 1 | test | existing | null | NP_000251.3 | null |
NP_004966.1_A621S | NP_004966.1 | 621 | A | S | 858 | KCNB1 | 708,213 | 0 | test | existing | 2 | NP_004966.1 | null |
NP_003150.1_G20D | NP_003150.1 | 20 | G | D | 1,030 | CDKL5 | 189,548 | 1 | test | existing | 2 | NP_001310218.1 | null |
NP_115763.2_T16I | NP_115763.2 | 16 | T | I | 1,243 | WNK4 | 323,311 | 0 | test | existing | 2 | NP_115763.2 | null |
NP_060956.1_N256I | NP_060956.1 | 256 | N | I | 377 | HDAC8 | 2,022,838 | 0 | test | existing | 1 | NP_060956.1 | null |
NP_000052.1_R544S | NP_000052.1 | 544 | R | S | 659 | BTK | 2,138,644 | 1 | test | existing | 1 | NP_005537.3 | null |
NP_114432.2_L195P | NP_114432.2 | 195 | L | P | 1,249 | BRIP1 | 128,193 | 0 | test | existing | 2 | NP_114432.2 | null |
NP_000594.2_A174T | NP_000594.2 | 174 | A | T | 1,203 | NOS3 | 739,664 | 0 | test | existing | 1 | NP_000594.2 | null |
NP_000391.1_D312N | NP_000391.1 | 312 | D | N | 760 | ERCC2 | 134,117 | 0 | test | existing | 2 | NP_000391.1 | null |
NP_000435.3_A573P | NP_000435.3 | 573 | A | P | 749 | PHEX | 379,848 | 1 | test | existing | 1 | NP_009220.2 | null |
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