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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1 | 192,479,643 | 192,479,643 | A | T | rs517196007 | 0.022286 | 0.02622 | 0.018951 | Unknown | false | |||
chr4 | 98,400,321 | 98,400,321 | A | C | chr4_98400321_A_C | 0.003909 | 0.005565 | 0.004127 | Unknown | true | |||
chr6 | 114,601,374 | 114,601,374 | G | T | rs921995627 | 0.011511 | 0.007355 | 0.015459 | Unknown | false | |||
chr11 | 92,264,051 | 92,264,051 | C | G | rs325739637 | 0.025441 | 0.019905 | 0.031953 | GENE1684 | downstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr16 | 65,579,907 | 65,579,907 | T | C | rs862699969 | 0.023557 | 0.031458 | 0.030095 | GENE640 | splice_donor_variant | MODERATE | Moderate Impact | false |
chr9 | 96,690,628 | 96,690,628 | T | A | rs442534349 | 0.447983 | 0.298508 | 0.415402 | Unknown | false | |||
chr14 | 90,248,679 | 90,248,679 | G | C | rs143287946 | 0.020628 | 0.022735 | 0.024189 | GENE1115 | stop_lost | MODIFIER | Low/Modifier Impact | false |
chr22 | 32,162,588 | 32,162,588 | T | G | chr22_32162588_T_G | 0.021169 | 0.030754 | 0.028745 | GENE452 | missense_variant | MODIFIER | Low/Modifier Impact | false |
chr9 | 36,161,487 | 36,161,487 | T | C | chr9_36161487_T_C | 0.026366 | 0.026843 | 0.034667 | Unknown | false | |||
chr6 | 14,378,408 | 14,378,408 | A | C | chr6_14378408_A_C | 0.002954 | 0.0026 | 0.003697 | GENE451 | start_lost | LOW | Low/Modifier Impact | true |
chr4 | 124,831,033 | 124,831,033 | C | G | chr4_124831033_C_G | 0.018637 | 0.013234 | 0.017113 | GENE530 | stop_gained | LOW | Low/Modifier Impact | false |
chr16 | 65,651,287 | 65,651,287 | A | G | rs58009132 | 0.046565 | 0.069257 | 0.064494 | GENE7 | upstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr6 | 98,200,068 | 98,200,068 | A | G | chr6_98200068_A_G | 0.02294 | 0.023274 | 0.022644 | GENE1131 | frameshift_variant | LOW | Low/Modifier Impact | false |
chr1 | 235,191,507 | 235,191,507 | C | T | rs168103356 | 0.029088 | 0.035203 | 0.01751 | Unknown | false | |||
chr15 | 26,610,243 | 26,610,243 | A | G | rs132371063 | 0.034145 | 0.028689 | 0.033147 | Unknown | false | |||
chrX | 20,422,678 | 20,422,678 | G | A | rs494386264 | 0.025197 | 0.022289 | 0.017168 | GENE441 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr12 | 62,821,536 | 62,821,536 | T | C | rs577021446 | 0.038859 | 0.042373 | 0.054457 | GENE986 | start_lost | MODIFIER | Low/Modifier Impact | false |
chr13 | 3,120,619 | 3,120,619 | T | G | chr13_3120619_T_G | 0.049705 | 0.027593 | 0.067661 | GENE1330 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | false |
chr10 | 48,961,771 | 48,961,771 | T | C | rs47253232 | 0.045422 | 0.057175 | 0.046054 | GENE1627 | stop_lost | LOW | Low/Modifier Impact | false |
chr8 | 30,321,582 | 30,321,582 | C | A | rs746892853 | 0.046192 | 0.057486 | 0.068666 | GENE442 | intron_variant | MODERATE | Moderate Impact | false |
chr7 | 29,075,780 | 29,075,780 | T | A | rs762155721 | 0.008044 | 0.011533 | 0.008147 | GENE1060 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | true |
chr12 | 125,737,179 | 125,737,179 | G | C | chr12_125737179_G_C | 0.00295 | 0.003459 | 0.001771 | Unknown | true | |||
chr6 | 80,524,728 | 80,524,728 | T | A | rs915687959 | 0.031557 | 0.021079 | 0.047272 | GENE97 | start_lost | LOW | Low/Modifier Impact | false |
chr6 | 2,426,496 | 2,426,496 | G | C | rs116567054 | 0.037595 | 0.048118 | 0.05002 | GENE380 | stop_lost | LOW | Low/Modifier Impact | false |
chr16 | 8,629,890 | 8,629,890 | A | G | chr16_8629890_A_G | 0.044838 | 0.03724 | 0.028902 | GENE230 | upstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr22 | 14,815,969 | 14,815,969 | T | A | rs931852703 | 0.048668 | 0.070809 | 0.044933 | GENE399 | upstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr7 | 84,124,421 | 84,124,421 | C | T | rs139008795 | 0.002356 | 0.002584 | 0.001891 | GENE660 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | true |
chr5 | 75,171,762 | 75,171,762 | A | T | chr5_75171762_A_T | 0.020726 | 0.014043 | 0.019798 | GENE1194 | splice_acceptor_variant | MODERATE | Moderate Impact | false |
chr2 | 199,881,038 | 199,881,038 | C | A | rs426560180 | 0.004539 | 0.006802 | 0.002671 | Unknown | true | |||
chr17 | 12,390,853 | 12,390,853 | A | T | chr17_12390853_A_T | 0.019877 | 0.016069 | 0.028389 | Unknown | false | |||
chr11 | 74,398,069 | 74,398,069 | T | C | rs427337927 | 0.015281 | 0.015437 | 0.018781 | GENE1761 | splice_donor_variant | LOW | Low/Modifier Impact | false |
chrX | 66,653,325 | 66,653,325 | G | A | chrX_66653325_G_A | 0.016961 | 0.010876 | 0.011802 | GENE319 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr1 | 102,567,977 | 102,567,977 | G | A | rs505604604 | 0.014517 | 0.01543 | 0.014233 | GENE1897 | stop_lost | MODIFIER | Low/Modifier Impact | false |
chrX | 98,098,864 | 98,098,864 | C | A | rs853847931 | 0.329985 | 0.441576 | 0.315962 | Unknown | false | |||
chr20 | 27,550,634 | 27,550,634 | T | C | rs713304304 | 0.005082 | 0.005134 | 0.007285 | Unknown | true | |||
chr3 | 21,290,590 | 21,290,590 | A | C | rs232144941 | 0.04395 | 0.062219 | 0.064323 | GENE735 | synonymous_variant | LOW | Low/Modifier Impact | false |
chr8 | 21,453,440 | 21,453,440 | G | T | rs546122186 | 0.010723 | 0.007624 | 0.011922 | GENE298 | frameshift_variant | MODERATE | Moderate Impact | false |
chr7 | 93,087,299 | 93,087,299 | C | G | rs930730189 | 0.030268 | 0.037807 | 0.026339 | GENE1008 | synonymous_variant | LOW | Low/Modifier Impact | false |
chrX | 119,937,339 | 119,937,339 | T | C | chrX_119937339_T_C | 0.018247 | 0.013145 | 0.01909 | Unknown | false | |||
chr10 | 133,621,814 | 133,621,814 | A | T | rs995979726 | 0.027885 | 0.038054 | 0.032708 | Unknown | false | |||
chr4 | 67,933,562 | 67,933,562 | A | C | rs644672640 | 0.00472 | 0.006253 | 0.00294 | KRAS | frameshift_variant | MODIFIER | Low/Modifier Impact | true |
chr10 | 13,832,618 | 13,832,618 | T | C | rs507230792 | 0.047953 | 0.05527 | 0.031185 | GENE1378 | stop_gained | MODIFIER | Low/Modifier Impact | false |
chr18 | 9,358,790 | 9,358,790 | A | G | rs972745918 | 0.03913 | 0.049007 | 0.027179 | GENE252 | upstream_gene_variant | LOW | Low/Modifier Impact | false |
chr5 | 66,521,960 | 66,521,960 | T | C | chr5_66521960_T_C | 0.032333 | 0.035603 | 0.016242 | GENE851 | 3_prime_UTR_variant | LOW | Low/Modifier Impact | false |
chr8 | 39,055,752 | 39,055,752 | G | T | rs538199481 | 0.021666 | 0.01717 | 0.01251 | GENE458 | stop_lost | MODIFIER | Low/Modifier Impact | false |
chr6 | 63,935,603 | 63,935,603 | C | G | rs658167151 | 0.001579 | 0.001958 | 0.001847 | GENE847 | stop_gained | MODIFIER | Low/Modifier Impact | true |
chr9 | 90,212,267 | 90,212,267 | T | C | rs530487996 | 0.01175 | 0.017334 | 0.012194 | GENE52 | 3_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr8 | 99,005,129 | 99,005,129 | A | T | chr8_99005129_A_T | 0.008837 | 0.005426 | 0.004685 | GENE810 | upstream_gene_variant | HIGH | High Impact | true |
chr8 | 94,281,158 | 94,281,158 | G | T | chr8_94281158_G_T | 0.217447 | 0.305252 | 0.122702 | GENE752 | stop_gained | MODIFIER | Low/Modifier Impact | false |
chr12 | 84,925,154 | 84,925,154 | T | A | rs197559033 | 0.477219 | 0.635372 | 0.634824 | GENE1495 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr9 | 37,033,045 | 37,033,045 | G | A | rs902514486 | 0.040089 | 0.030326 | 0.028232 | GENE1842 | 5_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr4 | 30,603,115 | 30,603,115 | A | C | chr4_30603115_A_C | 0.021445 | 0.011173 | 0.023133 | Unknown | false | |||
chr11 | 113,608,282 | 113,608,282 | A | T | chr11_113608282_A_T | 0.014373 | 0.014676 | 0.018237 | GENE649 | stop_gained | LOW | Low/Modifier Impact | false |
chr6 | 169,447,568 | 169,447,568 | A | C | rs487841656 | 0.237757 | 0.123805 | 0.16123 | Unknown | false | |||
chr21 | 7,222,080 | 7,222,080 | G | A | rs56580802 | 0.03862 | 0.054247 | 0.046613 | GENE1320 | stop_lost | HIGH | High Impact | false |
chr18 | 6,630,320 | 6,630,320 | T | G | rs769651292 | 0.007575 | 0.010397 | 0.009564 | GENE1096 | stop_gained | LOW | Low/Modifier Impact | true |
chr14 | 94,906,486 | 94,906,486 | A | C | rs372637526 | 0.030882 | 0.020502 | 0.028351 | GENE1280 | downstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr12 | 4,664,389 | 4,664,389 | C | G | chr12_4664389_C_G | 0.04271 | 0.042707 | 0.034573 | GENE776 | start_lost | LOW | Low/Modifier Impact | false |
chr9 | 103,818,327 | 103,818,327 | A | T | chr9_103818327_A_T | 0.046158 | 0.064443 | 0.031157 | Unknown | false | |||
chr21 | 14,078,241 | 14,078,241 | T | C | rs991713942 | 0.015554 | 0.017341 | 0.008912 | GENE1984 | 3_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr22 | 2,654,712 | 2,654,712 | A | T | rs460916754 | 0.043313 | 0.034054 | 0.052941 | GENE978 | splice_donor_variant | MODERATE | Moderate Impact | false |
chr6 | 155,201,817 | 155,201,817 | G | T | rs713366961 | 0.004835 | 0.003583 | 0.006671 | GENE752 | downstream_gene_variant | LOW | Low/Modifier Impact | true |
chr7 | 81,455,268 | 81,455,268 | C | G | rs453801398 | 0.00408 | 0.002761 | 0.00562 | GENE1714 | downstream_gene_variant | MODIFIER | Low/Modifier Impact | true |
chr4 | 135,072,514 | 135,072,514 | T | G | rs279208798 | 0.02162 | 0.022107 | 0.021744 | Unknown | false | |||
chr2 | 219,119,700 | 219,119,700 | A | G | rs591900040 | 0.22253 | 0.313441 | 0.289071 | GENE1949 | downstream_gene_variant | MODIFIER | Low/Modifier Impact | false |
chr7 | 153,122,826 | 153,122,826 | G | C | rs605395089 | 0.011306 | 0.011845 | 0.01469 | GENE1227 | stop_gained | LOW | Low/Modifier Impact | false |
chr5 | 43,690,362 | 43,690,362 | G | A | rs873142122 | 0.012641 | 0.015569 | 0.013934 | GENE1902 | start_lost | MODERATE | Moderate Impact | false |
chr18 | 55,582,562 | 55,582,562 | A | T | rs211073427 | 0.042695 | 0.034906 | 0.045152 | GENE1881 | synonymous_variant | MODIFIER | Low/Modifier Impact | false |
chr14 | 94,442,873 | 94,442,873 | G | C | rs497435346 | 0.010497 | 0.010232 | 0.005687 | GENE662 | 5_prime_UTR_variant | LOW | Low/Modifier Impact | false |
chr1 | 38,073,703 | 38,073,703 | C | A | rs344543593 | 0.363021 | 0.452504 | 0.310316 | GENE1116 | stop_lost | MODIFIER | Low/Modifier Impact | false |
chr1 | 58,083,965 | 58,083,965 | C | G | rs257399618 | 0.470936 | 0.377265 | 0.587005 | GENE498 | downstream_gene_variant | MODERATE | Moderate Impact | false |
chr6 | 101,200,679 | 101,200,679 | T | C | rs105074122 | 0.109919 | 0.058477 | 0.090593 | Unknown | false | |||
chr13 | 259,136 | 259,136 | T | A | rs934689721 | 0.033384 | 0.041965 | 0.045034 | GENE595 | start_lost | MODIFIER | Low/Modifier Impact | false |
chr6 | 30,235,293 | 30,235,293 | G | C | rs935324759 | 0.003558 | 0.00461 | 0.003191 | GENE1567 | stop_lost | MODIFIER | Low/Modifier Impact | true |
chrX | 127,237,130 | 127,237,130 | T | G | rs178396166 | 0.011571 | 0.013823 | 0.01522 | Unknown | false | |||
chr6 | 140,569,710 | 140,569,710 | T | G | rs661043256 | 0.03724 | 0.039505 | 0.030469 | GENE621 | splice_acceptor_variant | LOW | Low/Modifier Impact | false |
chr9 | 134,109,382 | 134,109,382 | G | A | rs744469339 | 0.004612 | 0.003764 | 0.003418 | GENE206 | splice_donor_variant | MODIFIER | Low/Modifier Impact | true |
chrX | 64,509,335 | 64,509,335 | T | A | rs119239566 | 0.368319 | 0.279763 | 0.279251 | GENE1251 | start_lost | MODERATE | Moderate Impact | false |
chr12 | 130,025,503 | 130,025,503 | A | G | chr12_130025503_A_G | 0.039243 | 0.044699 | 0.041106 | Unknown | false | |||
chr14 | 92,372,696 | 92,372,696 | G | T | rs438258126 | 0.016389 | 0.01629 | 0.019142 | GENE365 | upstream_gene_variant | LOW | Low/Modifier Impact | false |
chr2 | 47,477,821 | 47,477,821 | A | G | chr2_47477821_A_G | 0.029006 | 0.041162 | 0.021547 | GENE1671 | upstream_gene_variant | LOW | Low/Modifier Impact | false |
chr7 | 17,322,602 | 17,322,602 | A | T | rs90820666 | 0.017522 | 0.013569 | 0.013307 | GENE350 | stop_lost | LOW | Low/Modifier Impact | false |
chr14 | 99,469,463 | 99,469,463 | T | G | rs713814752 | 0.017705 | 0.011351 | 0.012281 | Unknown | false | |||
chr10 | 128,170,546 | 128,170,546 | A | C | chr10_128170546_A_C | 0.046973 | 0.028901 | 0.05229 | GENE1880 | 3_prime_UTR_variant | MODIFIER | Low/Modifier Impact | false |
chr1 | 73,917,821 | 73,917,821 | T | C | chr1_73917821_T_C | 0.022269 | 0.01943 | 0.031615 | Unknown | false | |||
chr17 | 60,575,135 | 60,575,135 | A | T | rs826763533 | 0.047869 | 0.049841 | 0.042455 | GENE1833 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr5 | 9,571,551 | 9,571,551 | T | A | rs756067016 | 0.025334 | 0.017038 | 0.0225 | GENE475 | splice_acceptor_variant | MODIFIER | Low/Modifier Impact | false |
chr3 | 183,422,157 | 183,422,157 | G | A | rs375618289 | 0.020068 | 0.012663 | 0.02892 | GENE336 | intron_variant | MODIFIER | Low/Modifier Impact | false |
chr4 | 52,462,827 | 52,462,827 | G | A | rs786806142 | 0.008561 | 0.004394 | 0.00502 | GENE138 | missense_variant | MODIFIER | Low/Modifier Impact | true |
chr19 | 53,624,647 | 53,624,647 | G | C | rs625491236 | 0.006956 | 0.007833 | 0.007 | GENE817 | synonymous_variant | MODIFIER | Low/Modifier Impact | true |
chr16 | 6,773,500 | 6,773,500 | T | G | rs492322076 | 0.067026 | 0.051989 | 0.09786 | Unknown | false | |||
chr4 | 157,241,183 | 157,241,183 | G | A | chr4_157241183_G_A | 0.085384 | 0.047695 | 0.077999 | GENE1415 | splice_donor_variant | LOW | Low/Modifier Impact | false |
chrY | 36,293,749 | 36,293,749 | C | G | rs82161592 | 0.002379 | 0.002375 | 0.003043 | Unknown | true | |||
chr1 | 3,762,524 | 3,762,524 | T | A | rs523519416 | 0.013503 | 0.009499 | 0.013062 | GENE1477 | frameshift_variant | MODIFIER | Low/Modifier Impact | false |
chr9 | 53,194,582 | 53,194,582 | A | C | rs855838485 | 0.013161 | 0.019075 | 0.008864 | Unknown | false | |||
chr2 | 111,179,644 | 111,179,644 | A | G | rs806358297 | 0.027118 | 0.035014 | 0.021371 | Unknown | false | |||
chr6 | 90,870,235 | 90,870,235 | G | C | rs332456088 | 0.022831 | 0.028394 | 0.030523 | GENE173 | missense_variant | MODERATE | Moderate Impact | false |
chr13 | 54,383,292 | 54,383,292 | G | T | rs926703575 | 0.311114 | 0.182425 | 0.290668 | GENE1982 | missense_variant | MODERATE | Moderate Impact | false |
chr17 | 49,803,918 | 49,803,918 | G | T | rs131641306 | 0.225975 | 0.15243 | 0.320541 | Unknown | false | |||
chr19 | 56,884,095 | 56,884,095 | T | C | chr19_56884095_T_C | 0.038939 | 0.044554 | 0.047189 | GENE1527 | synonymous_variant | LOW | Low/Modifier Impact | false |
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