Dataset Viewer
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
| 23,853,035 | 23,853,035 |
G
|
A
|
rs741692835
| 0.043607 | 0.050655 | 0.039057 |
GENE706
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr18
| 75,263,592 | 75,263,592 |
C
|
T
|
rs828018279
| 0.02272 | 0.023637 | 0.031725 |
GENE1134
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false |
chr5
| 81,653,319 | 81,653,319 |
T
|
A
|
chr5_81653319_T_A
| 0.028694 | 0.024957 | 0.026971 |
Unknown
| false |
|||
chr15
| 26,349,926 | 26,349,926 |
T
|
G
|
rs986918231
| 0.043969 | 0.036025 | 0.036563 |
GENE230
|
intron_variant
|
MODERATE
|
Moderate Impact
| false |
chr9
| 87,260,325 | 87,260,325 |
T
|
G
|
rs436172305
| 0.022758 | 0.023818 | 0.03155 |
GENE83
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chrY
| 17,075,717 | 17,075,717 |
A
|
C
|
rs743319863
| 0.043386 | 0.048974 | 0.05932 |
GENE455
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr19
| 18,210,760 | 18,210,760 |
T
|
C
|
rs78565862
| 0.014264 | 0.010828 | 0.015722 |
Unknown
| false |
|||
chr5
| 11,469,874 | 11,469,874 |
C
|
A
|
chr5_11469874_C_A
| 0.000406 | 0.00048 | 0.000571 |
GENE903
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr11
| 57,554,825 | 57,554,825 |
G
|
A
|
rs509720350
| 0.02202 | 0.025722 | 0.014634 |
GENE901
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr2
| 175,692,486 | 175,692,486 |
A
|
G
|
rs185337489
| 0.005899 | 0.003144 | 0.00666 |
GENE1636
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr8
| 134,506,109 | 134,506,109 |
A
|
T
|
rs593901348
| 0.045869 | 0.053016 | 0.036722 |
GENE1636
|
start_lost
|
LOW
|
Low/Modifier Impact
| false |
chr10
| 54,237,883 | 54,237,883 |
A
|
G
|
rs217326508
| 0.00544 | 0.0052 | 0.004312 |
GENE1960
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr9
| 48,970,379 | 48,970,379 |
A
|
C
|
rs968278429
| 0.007336 | 0.009673 | 0.00976 |
GENE498
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| true |
chr13
| 2,210,038 | 2,210,038 |
C
|
G
|
rs68501650
| 0.039132 | 0.044526 | 0.030896 |
GENE1395
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr17
| 62,638,756 | 62,638,756 |
G
|
C
|
rs357052012
| 0.040728 | 0.031044 | 0.054419 |
GENE1853
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr1
| 89,818,303 | 89,818,303 |
C
|
A
|
rs338697504
| 0.015248 | 0.011991 | 0.007984 |
GENE967
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false |
chr2
| 3,273,947 | 3,273,947 |
T
|
A
|
rs315721074
| 0.005215 | 0.003751 | 0.004068 |
GENE1737
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| true |
chr3
| 2,995,546 | 2,995,546 |
A
|
T
|
rs324147236
| 0.036715 | 0.023993 | 0.027759 |
Unknown
| false |
|||
chr1
| 210,752,271 | 210,752,271 |
T
|
G
|
chr1_210752271_T_G
| 0.014297 | 0.019113 | 0.016217 |
GENE203
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr8
| 111,220,280 | 111,220,280 |
G
|
C
|
chr8_111220280_G_C
| 0.042402 | 0.061129 | 0.024866 |
GENE248
|
start_lost
|
LOW
|
Low/Modifier Impact
| false |
chrX
| 47,931,420 | 47,931,420 |
T
|
C
|
rs613660902
| 0.495698 | 0.312419 | 0.458875 |
Unknown
| false |
|||
chr4
| 6,185,397 | 6,185,397 |
C
|
T
|
rs641790296
| 0.019329 | 0.024847 | 0.027574 |
GENE236
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr2
| 128,061,356 | 128,061,356 |
A
|
T
|
rs376220698
| 0.04107 | 0.048624 | 0.060306 |
Unknown
| false |
|||
chr16
| 75,265,133 | 75,265,133 |
G
|
C
|
chr16_75265133_G_C
| 0.044322 | 0.042356 | 0.049501 |
Unknown
| false |
|||
chr1
| 97,374,595 | 97,374,595 |
C
|
A
|
rs704938467
| 0.457797 | 0.412788 | 0.497636 |
GENE144
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr3
| 175,757,078 | 175,757,078 |
A
|
G
|
rs109899917
| 0.030298 | 0.019758 | 0.033384 |
GENE1815
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false |
chr9
| 137,562,140 | 137,562,140 |
C
|
A
|
rs430793282
| 0.021895 | 0.027 | 0.023133 |
GENE1891
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr3
| 59,921,085 | 59,921,085 |
T
|
A
|
chr3_59921085_T_A
| 0.049906 | 0.063022 | 0.026638 |
GENE544
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false |
chr4
| 96,665,816 | 96,665,816 |
G
|
C
|
rs111635217
| 0.042285 | 0.036805 | 0.024127 |
Unknown
| false |
|||
chr7
| 33,566,276 | 33,566,276 |
A
|
T
|
rs81544164
| 0.004984 | 0.004371 | 0.005776 |
GENE325
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr16
| 30,087,394 | 30,087,394 |
C
|
A
|
rs118700017
| 0.040553 | 0.044089 | 0.054976 |
GENE1193
|
stop_gained
|
MODERATE
|
Moderate Impact
| false |
chr1
| 110,141,334 | 110,141,334 |
T
|
C
|
rs324131043
| 0.038231 | 0.035125 | 0.030429 |
Unknown
| false |
|||
chr3
| 45,963,638 | 45,963,638 |
A
|
T
|
rs520603607
| 0.041534 | 0.051204 | 0.051977 |
NF1
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr10
| 11,813,097 | 11,813,097 |
G
|
T
|
chr10_11813097_G_T
| 0.14266 | 0.180401 | 0.124289 |
GENE634
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr14
| 26,928,868 | 26,928,868 |
A
|
T
|
rs946544769
| 0.0038 | 0.004851 | 0.002622 |
GENE1932
|
stop_lost
|
LOW
|
Low/Modifier Impact
| true |
chr4
| 26,401,798 | 26,401,798 |
A
|
T
|
rs676184781
| 0.039807 | 0.056617 | 0.033457 |
GENE667
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr16
| 39,703,175 | 39,703,175 |
G
|
A
|
chr16_39703175_G_A
| 0.003643 | 0.004195 | 0.00478 |
GENE1773
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| true |
chr2
| 208,612,968 | 208,612,968 |
G
|
C
|
rs472511587
| 0.033597 | 0.034907 | 0.029656 |
GENE1206
|
start_lost
|
LOW
|
Low/Modifier Impact
| false |
chr7
| 58,534,673 | 58,534,673 |
A
|
C
|
rs854295331
| 0.014814 | 0.018572 | 0.012447 |
Unknown
| false |
|||
chr9
| 80,653,231 | 80,653,231 |
A
|
G
|
chr9_80653231_A_G
| 0.014219 | 0.008297 | 0.020178 |
Unknown
| false |
|||
chr10
| 12,631,676 | 12,631,676 |
C
|
G
|
rs258539020
| 0.029429 | 0.043738 | 0.025993 |
GENE324
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr11
| 7,996,080 | 7,996,080 |
C
|
A
|
rs434037210
| 0.001803 | 0.001553 | 0.001727 |
Unknown
| true |
|||
chr4
| 171,584,725 | 171,584,725 |
A
|
G
|
rs503063709
| 0.043404 | 0.041554 | 0.022192 |
Unknown
| false |
|||
chr1
| 58,320,479 | 58,320,479 |
G
|
T
|
chr1_58320479_G_T
| 0.02413 | 0.029847 | 0.016446 |
GENE1585
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr9
| 37,481,419 | 37,481,419 |
G
|
T
|
chr9_37481419_G_T
| 0.01486 | 0.021081 | 0.019854 |
GENE1207
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr11
| 2,943,749 | 2,943,749 |
C
|
G
|
rs401262735
| 0.397745 | 0.503573 | 0.559131 |
Unknown
| false |
|||
chr5
| 113,871,850 | 113,871,850 |
A
|
C
|
chr5_113871850_A_C
| 0.025158 | 0.037438 | 0.030615 |
GENE1867
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false |
chr1
| 172,995,272 | 172,995,272 |
C
|
A
|
chr1_172995272_C_A
| 0.213934 | 0.250899 | 0.222818 |
GENE619
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false |
chr6
| 158,829,134 | 158,829,134 |
G
|
A
|
rs952137259
| 0.012896 | 0.012452 | 0.006646 |
GENE1382
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr5
| 10,750,219 | 10,750,219 |
G
|
C
|
rs92373647
| 0.477213 | 0.701691 | 0.425427 |
GENE1218
|
synonymous_variant
|
LOW
|
Low/Modifier Impact
| false |
chr5
| 72,318,030 | 72,318,030 |
T
|
G
|
chr5_72318030_T_G
| 0.043837 | 0.024003 | 0.062781 |
GENE417
|
3_prime_UTR_variant
|
HIGH
|
High Impact
| false |
chr19
| 53,112,373 | 53,112,373 |
T
|
C
|
rs956207718
| 0.047303 | 0.054099 | 0.043038 |
Unknown
| false |
|||
chr5
| 157,066,833 | 157,066,833 |
C
|
A
|
rs903354503
| 0.007072 | 0.009536 | 0.00972 |
GENE1590
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| true |
chr11
| 127,246,681 | 127,246,681 |
A
|
T
|
chr11_127246681_A_T
| 0.007348 | 0.006423 | 0.006709 |
GENE204
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr9
| 129,542,512 | 129,542,512 |
T
|
G
|
chr9_129542512_T_G
| 0.030163 | 0.024093 | 0.021359 |
GENE129
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr5
| 110,713,458 | 110,713,458 |
T
|
C
|
chr5_110713458_T_C
| 0.014887 | 0.00771 | 0.008657 |
GENE1596
|
start_lost
|
LOW
|
Low/Modifier Impact
| false |
chrX
| 124,647,156 | 124,647,156 |
A
|
C
|
rs746124593
| 0.005284 | 0.004264 | 0.005734 |
Unknown
| true |
|||
chr9
| 34,137,299 | 34,137,299 |
C
|
A
|
chr9_34137299_C_A
| 0.016448 | 0.022053 | 0.021193 |
GENE458
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr10
| 84,007,138 | 84,007,138 |
C
|
T
|
chr10_84007138_C_T
| 0.013341 | 0.009964 | 0.009001 |
Unknown
| false |
|||
chr15
| 93,739,917 | 93,739,917 |
A
|
G
|
rs368682560
| 0.021169 | 0.020045 | 0.031126 |
Unknown
| false |
|||
chr16
| 27,883,662 | 27,883,662 |
T
|
C
|
chr16_27883662_T_C
| 0.03841 | 0.020718 | 0.050739 |
GENE1358
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr6
| 14,169,213 | 14,169,213 |
G
|
T
|
rs978417683
| 0.186769 | 0.13305 | 0.276888 |
GENE749
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr1
| 248,452,294 | 248,452,294 |
G
|
A
|
rs726614869
| 0.018888 | 0.016469 | 0.015025 |
GENE666
|
start_lost
|
LOW
|
Low/Modifier Impact
| false |
chr3
| 118,013,622 | 118,013,622 |
C
|
A
|
rs853569409
| 0.291792 | 0.161102 | 0.242483 |
GENE1629
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr10
| 89,802,667 | 89,802,667 |
T
|
G
|
chr10_89802667_T_G
| 0.006975 | 0.005477 | 0.004468 |
GENE348
|
downstream_gene_variant
|
MODERATE
|
Moderate Impact
| true |
chr21
| 7,685,707 | 7,685,707 |
A
|
C
|
chr21_7685707_A_C
| 0.04723 | 0.056666 | 0.042709 |
Unknown
| false |
|||
chr5
| 24,199,503 | 24,199,503 |
C
|
A
|
rs18133755
| 0.001654 | 0.001171 | 0.002236 |
GENE1834
|
intron_variant
|
MODERATE
|
Moderate Impact
| true |
chr4
| 166,194,183 | 166,194,183 |
G
|
C
|
rs518480133
| 0.0121 | 0.00811 | 0.008737 |
GENE430
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr1
| 184,299,945 | 184,299,945 |
T
|
G
|
chr1_184299945_T_G
| 0.018729 | 0.022446 | 0.017133 |
Unknown
| false |
|||
chr19
| 42,462,615 | 42,462,615 |
T
|
G
|
rs456967935
| 0.03242 | 0.027741 | 0.035848 |
Unknown
| false |
|||
chr12
| 44,835,008 | 44,835,008 |
C
|
G
|
chr12_44835008_C_G
| 0.024298 | 0.022574 | 0.01804 |
Unknown
| false |
|||
chr3
| 29,063,209 | 29,063,209 |
C
|
T
|
rs694700200
| 0.484573 | 0.549305 | 0.548695 |
Unknown
| false |
|||
chr17
| 73,204,681 | 73,204,681 |
G
|
A
|
rs323417067
| 0.024097 | 0.016499 | 0.01917 |
Unknown
| false |
|||
chr9
| 107,981,811 | 107,981,811 |
G
|
A
|
chr9_107981811_G_A
| 0.048944 | 0.032503 | 0.045992 |
GENE450
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr2
| 185,792,744 | 185,792,744 |
A
|
C
|
rs622448793
| 0.04595 | 0.040374 | 0.035795 |
Unknown
| false |
|||
chr6
| 67,839,521 | 67,839,521 |
A
|
T
|
chr6_67839521_A_T
| 0.009163 | 0.010503 | 0.00728 |
GENE168
|
missense_variant
|
LOW
|
Low/Modifier Impact
| true |
chr5
| 163,852,896 | 163,852,896 |
A
|
T
|
chr5_163852896_A_T
| 0.005249 | 0.003259 | 0.00317 |
Unknown
| true |
|||
chr12
| 129,776,550 | 129,776,550 |
C
|
G
|
chr12_129776550_C_G
| 0.089526 | 0.107541 | 0.097264 |
Unknown
| false |
|||
chr2
| 34,519,674 | 34,519,674 |
C
|
A
|
chr2_34519674_C_A
| 0.005617 | 0.006745 | 0.003636 |
Unknown
| true |
|||
chr11
| 18,343,988 | 18,343,988 |
G
|
C
|
chr11_18343988_G_C
| 0.232741 | 0.223222 | 0.250435 |
Unknown
| false |
|||
chr11
| 123,798,479 | 123,798,479 |
T
|
A
|
chr11_123798479_T_A
| 0.040037 | 0.022399 | 0.040468 |
GENE461
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr3
| 60,217,374 | 60,217,374 |
A
|
T
|
rs476016470
| 0.046398 | 0.042527 | 0.066747 |
GENE1599
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false |
chr18
| 79,535,749 | 79,535,749 |
C
|
G
|
chr18_79535749_C_G
| 0.031291 | 0.045644 | 0.042446 |
GENE472
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr1
| 26,016,355 | 26,016,355 |
T
|
C
|
rs439397843
| 0.010933 | 0.009392 | 0.016006 |
GENE1228
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr9
| 221,803 | 221,803 |
T
|
A
|
chr9_221803_T_A
| 0.025419 | 0.016656 | 0.027614 |
GENE1139
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr4
| 110,172,379 | 110,172,379 |
C
|
G
|
rs248134300
| 0.311379 | 0.308104 | 0.321563 |
GENE1920
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false |
chr7
| 115,724,666 | 115,724,666 |
G
|
C
|
rs623183610
| 0.017649 | 0.025473 | 0.015989 |
GENE1426
|
synonymous_variant
|
MODERATE
|
Moderate Impact
| false |
chr9
| 20,201,395 | 20,201,395 |
C
|
T
|
rs147513078
| 0.400043 | 0.259594 | 0.541701 |
GENE439
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr2
| 81,754,074 | 81,754,074 |
A
|
G
|
chr2_81754074_A_G
| 0.028452 | 0.021579 | 0.024764 |
GENE244
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr13
| 73,868,141 | 73,868,141 |
G
|
T
|
rs802547778
| 0.04679 | 0.051242 | 0.06298 |
GENE1799
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr2
| 70,631,083 | 70,631,083 |
T
|
G
|
rs968560695
| 0.005382 | 0.005583 | 0.003925 |
GENE1076
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true |
chr21
| 3,697,267 | 3,697,267 |
T
|
A
|
rs332080762
| 0.005264 | 0.007571 | 0.00352 |
GENE1803
|
splice_acceptor_variant
|
HIGH
|
High Impact
| true |
chr10
| 93,383,308 | 93,383,308 |
A
|
G
|
rs612932711
| 0.01416 | 0.02058 | 0.010163 |
Unknown
| false |
|||
chr8
| 40,190,674 | 40,190,674 |
A
|
T
|
rs684858892
| 0.487824 | 0.471373 | 0.50739 |
GENE1748
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false |
chr7
| 141,250,428 | 141,250,428 |
C
|
A
|
rs194972528
| 0.018043 | 0.018903 | 0.014097 |
GENE385
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chr1
| 122,014,428 | 122,014,428 |
A
|
G
|
rs938795202
| 0.023833 | 0.018813 | 0.028965 |
Unknown
| false |
|||
chr14
| 15,723,789 | 15,723,789 |
A
|
T
|
rs95098127
| 0.042556 | 0.048284 | 0.049336 |
Unknown
| false |
|||
chr18
| 41,304,146 | 41,304,146 |
T
|
A
|
rs889864831
| 0.021168 | 0.023009 | 0.01594 |
GENE951
|
splice_donor_variant
|
LOW
|
Low/Modifier Impact
| false |
chr22
| 33,698,290 | 33,698,290 |
T
|
G
|
rs866605134
| 0.030159 | 0.035229 | 0.042274 |
GENE81
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| false |
chrY
| 12,756,842 | 12,756,842 |
G
|
T
|
rs928749702
| 0.027013 | 0.022871 | 0.025168 |
Unknown
| false |
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