reference_name stringclasses 24
values | start_position int64 322 249M | end_position int64 322 249M | reference_bases stringclasses 4
values | alternate_bases stringclasses 4
values | variant_id stringlengths 8 19 | allele_frequency float64 0 0.5 | african_allele_frequency float64 0 0.74 | european_allele_frequency float64 0 0.75 | gene_symbol stringlengths 0 8 | consequence stringclasses 14
values | impact stringclasses 5
values | impact_category stringclasses 4
values | is_rare bool 2
classes |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5 | 179,144,270 | 179,144,270 | T | A | rs442082016 | 0.009722 | 0.008394 | 0.010102 | GENE751 | missense_variant | MODERATE | Moderate Impact | true |
chr1 | 111,058,902 | 111,058,902 | G | C | chr1_111058902_G_C | 0.028968 | 0.017905 | 0.021791 | GENE200 | start_lost | MODIFIER | Low/Modifier Impact | false |
chr13 | 101,332,320 | 101,332,320 | G | T | rs649978434 | 0.017764 | 0.011469 | 0.014962 | Unknown | false | |||
chr21 | 19,176,643 | 19,176,643 | T | G | rs60590125 | 0.015581 | 0.02031 | 0.013297 | Unknown | false | |||
chr1 | 98,969,319 | 98,969,319 | T | A | rs150566707 | 0.012743 | 0.017124 | 0.007894 | GENE1169 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr8 | 109,338,735 | 109,338,735 | T | G | rs939206729 | 0.014232 | 0.020447 | 0.007288 | GENE157 | intron_variant | MODIFIER | Low/Modifier Impact | false |
chr3 | 15,303,928 | 15,303,928 | A | C | chr3_15303928_A_C | 0.011083 | 0.007754 | 0.011521 | Unknown | false | |||
chr19 | 14,440,796 | 14,440,796 | A | C | rs691406872 | 0.031544 | 0.029107 | 0.042443 | GENE943 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr17 | 77,894,281 | 77,894,281 | A | G | rs750776776 | 0.047473 | 0.044526 | 0.034146 | Unknown | false | |||
chrX | 53,682,134 | 53,682,134 | G | A | rs747235134 | 0.17912 | 0.157041 | 0.135976 | GENE846 | stop_lost | LOW | Low/Modifier Impact | false |
chr16 | 87,809,915 | 87,809,915 | T | G | rs470671313 | 0.009748 | 0.011878 | 0.007176 | Unknown | true | |||
chr2 | 192,483,935 | 192,483,935 | T | C | rs509635097 | 0.020807 | 0.017813 | 0.021325 | GENE1305 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | false |
chr7 | 76,305,944 | 76,305,944 | A | G | rs215084185 | 0.00043 | 0.000322 | 0.0003 | NF1 | splice_acceptor_variant | HIGH | High Impact | true |
chr16 | 18,510,129 | 18,510,129 | G | C | rs1156348 | 0.006443 | 0.006105 | 0.003466 | GENE1081 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | true |
chr14 | 65,011,451 | 65,011,451 | G | T | chr14_65011451_G_T | 0.015182 | 0.011337 | 0.019721 | GENE1484 | missense_variant | MODIFIER | Low/Modifier Impact | false |
chr9 | 48,091,797 | 48,091,797 | T | A | rs37708830 | 0.003973 | 0.005791 | 0.002315 | GENE657 | missense_variant | HIGH | High Impact | true |
chrX | 116,092,550 | 116,092,550 | A | G | rs98941005 | 0.038207 | 0.045861 | 0.053692 | FMR1 | start_lost | LOW | Low/Modifier Impact | false |
chr4 | 60,135,144 | 60,135,144 | A | C | rs580059987 | 0.02167 | 0.013572 | 0.010968 | GENE1481 | 3_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr12 | 44,747,169 | 44,747,169 | T | A | rs396246900 | 0.029539 | 0.015432 | 0.039617 | Unknown | false | |||
chr9 | 97,144,375 | 97,144,375 | A | G | chr9_97144375_A_G | 0.006241 | 0.006042 | 0.007689 | Unknown | true | |||
chr6 | 160,006,433 | 160,006,433 | C | A | rs671790726 | 0.035761 | 0.035754 | 0.034455 | GENE403 | stop_lost | MODIFIER | Low/Modifier Impact | false |
chr19 | 23,156,492 | 23,156,492 | C | G | chr19_23156492_C_G | 0.242267 | 0.329596 | 0.230005 | GENE212 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | false |
chr11 | 28,571,368 | 28,571,368 | T | G | rs211887578 | 0.041942 | 0.027696 | 0.023567 | Unknown | false | |||
chr4 | 156,764,825 | 156,764,825 | C | G | chr4_156764825_C_G | 0.049859 | 0.048533 | 0.060623 | Unknown | false | |||
chr10 | 10,705,670 | 10,705,670 | T | C | rs452250257 | 0.018084 | 0.015005 | 0.01791 | GENE248 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr11 | 38,909,714 | 38,909,714 | T | C | rs893825266 | 0.025218 | 0.029696 | 0.021923 | GENE1826 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr2 | 23,735,992 | 23,735,992 | T | C | rs239072079 | 0.017061 | 0.013339 | 0.023565 | GENE167 | upstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr2 | 132,555,701 | 132,555,701 | T | G | rs983416593 | 0.025476 | 0.034065 | 0.034511 | GENE1558 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | false |
chr1 | 58,199,574 | 58,199,574 | T | A | rs580414339 | 0.04366 | 0.060576 | 0.030414 | GENE1295 | stop_lost | MODERATE | Moderate Impact | false |
chr7 | 12,261,531 | 12,261,531 | G | A | rs338876590 | 0.004538 | 0.005984 | 0.003623 | Unknown | true | |||
chr22 | 49,208,388 | 49,208,388 | C | T | chr22_49208388_C_T | 0.02359 | 0.024911 | 0.025878 | GENE1369 | frameshift_variant | HIGH | High Impact | false |
chr12 | 81,669,634 | 81,669,634 | G | C | rs293517262 | 0.013761 | 0.018378 | 0.010735 | BRCA2 | 3_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr22 | 9,154,988 | 9,154,988 | C | A | rs493553494 | 0.020963 | 0.014673 | 0.024287 | GENE1005 | missense_variant | MODIFIER | Low/Modifier Impact | false |
chr1 | 33,552,019 | 33,552,019 | A | C | rs199939548 | 0.283887 | 0.199655 | 0.240852 | GENE275 | 3_prime_UTR_variant | MODERATE | Moderate Impact | false |
chr3 | 132,166,474 | 132,166,474 | T | C | rs787111883 | 0.033127 | 0.041007 | 0.040334 | Unknown | false | |||
chr2 | 191,717,405 | 191,717,405 | A | C | rs640359999 | 0.025899 | 0.03422 | 0.025917 | GENE216 | stop_gained | MODIFIER | Low/Modifier Impact | false |
chr3 | 1,843,039 | 1,843,039 | T | A | rs675394829 | 0.023035 | 0.016741 | 0.01992 | GENE278 | splice_acceptor_variant | LOW | Low/Modifier Impact | false |
chr17 | 8,117,672 | 8,117,672 | C | T | chr17_8117672_C_T | 0.045417 | 0.061878 | 0.037658 | GENE1422 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr14 | 74,178,701 | 74,178,701 | C | A | rs550298467 | 0.00149 | 0.001563 | 0.001582 | Unknown | true | |||
chr8 | 63,253,182 | 63,253,182 | C | T | rs447635003 | 0.013942 | 0.015586 | 0.012316 | GENE1643 | intron_variant | MODERATE | Moderate Impact | false |
chr19 | 36,342,738 | 36,342,738 | C | T | rs666864512 | 0.453776 | 0.487907 | 0.615223 | Unknown | false | |||
chr10 | 129,124,081 | 129,124,081 | C | T | rs878083750 | 0.041285 | 0.049741 | 0.029415 | GENE1425 | synonymous_variant | LOW | Low/Modifier Impact | false |
chr15 | 937,697 | 937,697 | C | A | rs56190208 | 0.039909 | 0.049709 | 0.047906 | GENE350 | splice_donor_variant | MODIFIER | Low/Modifier Impact | false |
chr15 | 100,460,697 | 100,460,697 | G | A | rs824320952 | 0.043799 | 0.040276 | 0.03277 | GENE705 | start_lost | MODIFIER | Low/Modifier Impact | false |
chr1 | 225,736,778 | 225,736,778 | T | A | rs602051400 | 0.290377 | 0.160692 | 0.237235 | Unknown | false | |||
chrX | 133,786,963 | 133,786,963 | G | T | rs334695006 | 0.026253 | 0.022147 | 0.020043 | GENE1327 | synonymous_variant | LOW | Low/Modifier Impact | false |
chr12 | 113,721,970 | 113,721,970 | T | A | rs490545418 | 0.022594 | 0.020794 | 0.014316 | GENE1954 | splice_acceptor_variant | MODERATE | Moderate Impact | false |
chr16 | 34,045,757 | 34,045,757 | T | A | chr16_34045757_T_A | 0.008353 | 0.010694 | 0.009134 | GENE1462 | splice_acceptor_variant | LOW | Low/Modifier Impact | true |
chr4 | 32,892,973 | 32,892,973 | A | G | rs826535008 | 0.04705 | 0.040706 | 0.066443 | GENE263 | stop_lost | LOW | Low/Modifier Impact | false |
chr16 | 53,853,469 | 53,853,469 | T | A | chr16_53853469_T_A | 0.033791 | 0.017154 | 0.033473 | GENE1260 | 5_prime_UTR_variant | LOW | Low/Modifier Impact | false |
chr13 | 47,333,710 | 47,333,710 | T | A | rs611887197 | 0.486228 | 0.402984 | 0.378652 | GENE37 | downstream_gene_variant | LOW | Low/Modifier Impact | false |
chr1 | 124,755,513 | 124,755,513 | T | A | chr1_124755513_T_A | 0.030663 | 0.025969 | 0.019297 | GENE1644 | start_lost | LOW | Low/Modifier Impact | false |
chrX | 4,878,696 | 4,878,696 | C | G | chrX_4878696_C_G | 0.035396 | 0.040797 | 0.031964 | GENE969 | 5_prime_UTR_variant | LOW | Low/Modifier Impact | false |
chr7 | 152,033,242 | 152,033,242 | G | T | rs165395468 | 0.025619 | 0.032075 | 0.03795 | GENE917 | intron_variant | LOW | Low/Modifier Impact | false |
chrX | 46,850,603 | 46,850,603 | G | A | rs576437610 | 0.013018 | 0.012422 | 0.011453 | Unknown | false | |||
chr1 | 218,049,813 | 218,049,813 | A | C | rs797162950 | 0.042991 | 0.053154 | 0.030735 | GENE949 | synonymous_variant | MODERATE | Moderate Impact | false |
chr12 | 32,347,160 | 32,347,160 | G | T | rs458466848 | 0.352937 | 0.288693 | 0.44451 | GENE288 | start_lost | MODIFIER | Low/Modifier Impact | false |
chr8 | 69,586,358 | 69,586,358 | C | G | rs518744035 | 0.213053 | 0.290331 | 0.184095 | GENE477 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr1 | 223,029,565 | 223,029,565 | A | G | rs807177685 | 0.026779 | 0.02042 | 0.016304 | Unknown | false | |||
chr20 | 44,013,969 | 44,013,969 | T | C | rs463912729 | 0.014687 | 0.021185 | 0.021439 | Unknown | false | |||
chr7 | 128,559,082 | 128,559,082 | G | T | rs638978926 | 0.007451 | 0.007013 | 0.005204 | GENE1242 | stop_gained | MODERATE | Moderate Impact | true |
chr2 | 101,165,059 | 101,165,059 | G | T | chr2_101165059_G_T | 0.025293 | 0.026556 | 0.021206 | GENE575 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | false |
chr13 | 91,456,037 | 91,456,037 | G | C | rs372066550 | 0.001246 | 0.001585 | 0.001769 | GENE183 | stop_lost | MODIFIER | Low/Modifier Impact | true |
chr12 | 8,846,478 | 8,846,478 | C | T | rs84824417 | 0.0389 | 0.049675 | 0.055293 | Unknown | false | |||
chr21 | 40,502,640 | 40,502,640 | G | C | chr21_40502640_G_C | 0.421004 | 0.237623 | 0.404661 | GENE690 | synonymous_variant | MODIFIER | Low/Modifier Impact | false |
chr7 | 144,913,846 | 144,913,846 | C | G | rs661860636 | 0.029891 | 0.020873 | 0.025734 | GENE798 | 3_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr9 | 127,357,146 | 127,357,146 | C | G | chr9_127357146_C_G | 0.014143 | 0.007293 | 0.016905 | Unknown | false | |||
chrY | 55,448,387 | 55,448,387 | C | T | rs100620387 | 0.016053 | 0.015962 | 0.013378 | GENE2 | intron_variant | LOW | Low/Modifier Impact | false |
chr1 | 152,847,774 | 152,847,774 | A | G | rs374615517 | 0.003102 | 0.003851 | 0.004553 | GENE1470 | splice_donor_variant | MODIFIER | Low/Modifier Impact | true |
chr4 | 88,181,554 | 88,181,554 | T | G | rs198991747 | 0.007977 | 0.004028 | 0.011813 | GENE998 | 5_prime_UTR_variant | LOW | Low/Modifier Impact | true |
chr8 | 123,933,905 | 123,933,905 | G | T | rs37418410 | 0.00812 | 0.011489 | 0.01129 | Unknown | true | |||
chr18 | 7,752,640 | 7,752,640 | A | C | rs139509825 | 0.044452 | 0.023232 | 0.032982 | GENE664 | intron_variant | MODIFIER | Low/Modifier Impact | false |
chr19 | 46,974,845 | 46,974,845 | G | C | rs575248316 | 0.006135 | 0.007002 | 0.004583 | GENE353 | 3_prime_UTR_variant | LOW | Low/Modifier Impact | true |
chr7 | 67,829,338 | 67,829,338 | A | T | chr7_67829338_A_T | 0.002909 | 0.001648 | 0.001787 | Unknown | true | |||
chr8 | 34,526,903 | 34,526,903 | C | A | rs743422347 | 0.030466 | 0.028915 | 0.026183 | GENE1757 | start_lost | MODERATE | Moderate Impact | false |
chr11 | 56,435,441 | 56,435,441 | T | C | rs122558313 | 0.016655 | 0.022245 | 0.021655 | GENE868 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr2 | 232,795,659 | 232,795,659 | T | A | chr2_232795659_T_A | 0.025249 | 0.037422 | 0.028054 | Unknown | false | |||
chrX | 35,511,592 | 35,511,592 | C | T | chrX_35511592_C_T | 0.271996 | 0.38116 | 0.356829 | GENE599 | missense_variant | MODERATE | Moderate Impact | false |
chr3 | 57,582,589 | 57,582,589 | C | A | rs491842804 | 0.223516 | 0.230115 | 0.320937 | GENE267 | splice_acceptor_variant | MODERATE | Moderate Impact | false |
chr15 | 34,452,193 | 34,452,193 | G | T | rs875724434 | 0.429915 | 0.445717 | 0.281437 | GENE1764 | splice_donor_variant | LOW | Low/Modifier Impact | false |
chr5 | 168,345,307 | 168,345,307 | T | C | rs886049184 | 0.005221 | 0.005382 | 0.004346 | Unknown | true | |||
chr14 | 9,611,068 | 9,611,068 | A | C | rs164533300 | 0.007 | 0.009085 | 0.010168 | Unknown | true | |||
chr5 | 33,534,868 | 33,534,868 | G | T | rs44170460 | 0.001819 | 0.001595 | 0.002047 | GENE107 | intron_variant | LOW | Low/Modifier Impact | true |
chr2 | 133,750,398 | 133,750,398 | A | C | chr2_133750398_A_C | 0.03004 | 0.036623 | 0.043642 | GENE1125 | downstream_gene_variant | LOW | Low/Modifier Impact | false |
chr7 | 39,231,570 | 39,231,570 | A | G | chr7_39231570_A_G | 0.004395 | 0.00388 | 0.005313 | GENE1020 | missense_variant | MODIFIER | Low/Modifier Impact | true |
chr7 | 140,663,833 | 140,663,833 | T | A | rs185512671 | 0.017435 | 0.00947 | 0.019907 | GENE839 | 3_prime_UTR_variant | LOW | Low/Modifier Impact | false |
chr18 | 64,603,997 | 64,603,997 | A | T | chr18_64603997_A_T | 0.009413 | 0.005827 | 0.008062 | Unknown | true | |||
chr5 | 49,036,694 | 49,036,694 | A | C | rs613087467 | 0.019254 | 0.018869 | 0.019382 | GENE1093 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr22 | 36,019,885 | 36,019,885 | T | G | chr22_36019885_T_G | 0.010189 | 0.010632 | 0.0118 | Unknown | false | |||
chr5 | 28,363,223 | 28,363,223 | G | A | rs471445455 | 0.035152 | 0.027404 | 0.031765 | GENE893 | downstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr8 | 102,448,081 | 102,448,081 | G | A | rs455311490 | 0.004898 | 0.006917 | 0.003373 | GENE644 | start_lost | LOW | Low/Modifier Impact | true |
chr2 | 62,975,028 | 62,975,028 | T | A | rs197572276 | 0.004857 | 0.006828 | 0.004536 | Unknown | true | |||
chr10 | 121,239,680 | 121,239,680 | A | C | rs173268228 | 0.029149 | 0.017003 | 0.042153 | GENE1698 | start_lost | MODERATE | Moderate Impact | false |
chr10 | 2,557,707 | 2,557,707 | T | A | rs877768564 | 0.027215 | 0.01853 | 0.035983 | PRNP | frameshift_variant | MODERATE | Moderate Impact | false |
chr4 | 7,839,077 | 7,839,077 | T | A | chr4_7839077_T_A | 0.011742 | 0.015213 | 0.009865 | PARK2 | frameshift_variant | LOW | Low/Modifier Impact | false |
chr2 | 211,341,427 | 211,341,427 | G | T | chr2_211341427_G_T | 0.02818 | 0.031749 | 0.027147 | GENE919 | splice_acceptor_variant | LOW | Low/Modifier Impact | false |
chrX | 98,227,217 | 98,227,217 | A | G | chrX_98227217_A_G | 0.039786 | 0.031087 | 0.05188 | GENE424 | downstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr2 | 52,715,197 | 52,715,197 | A | C | rs436938548 | 0.043756 | 0.034116 | 0.024243 | GENE1625 | intron_variant | MODIFIER | Low/Modifier Impact | false |
chr6 | 145,264,077 | 145,264,077 | G | A | chr6_145264077_G_A | 0.022265 | 0.028627 | 0.024536 | Unknown | false | |||
chr6 | 32,063,476 | 32,063,476 | C | G | rs744906210 | 0.022997 | 0.01978 | 0.020769 | Unknown | false |
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