view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA10_chr4_168087537_168192736 | 168156204 | T | TTATATAT others(87): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 | 1 | 284 | 0.0035 | 94 | c.196 others(111): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
API5_chr11_43306996_43349529 | 43311165 | A | ATATATAT others(87): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0119 others(1): Show |
6 | 384 | 0.0156 | 94 | c.-96 others(103): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 830 | chr11 | TogoVar | |||||||
APOA4_chr11_116815700_116828304 | 116818348 | T | TTATATAT others(87): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 6 | 462 | 0.0130 | 94 | c.*25 others(105): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 2351 | chr11 | TogoVar | |||||||
APOBEC3B_chr22_38977347_38997779 | 38988683 | C | CTCTCTTT others(87): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 354 | 0.0028 | 94 | c.570 others(109): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85088169 | C | CATATATG others(87): Show |
3_prime_UTR_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0066 | 1 | 256 | 0.0039 | 94 | c.*52 others(103): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 528 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGAP17_chr16_24914389_25020369 | 25007309 | C | CAATAAAG others(87): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 240 | 0.0042 | 94 | c.53+ others(109): Show |
ARHGAP17 | ENSG00000140750.17 | transcript | ENST00000289968.11 | protein_coding | 1/19 | chr16 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251732 | A | AAGGGTTG others(87): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 242 | 0.0041 | 94 | c.927 others(111): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP26_chr5_142765377_143234007 | 143012548 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 198 | 0.0051 | 94 | c.110 others(113): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGAP28_chr18_6724716_6920716 | 6841203 | C | CTCTCTCC others(87): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0212 | 1 | 248 | 0.0040 | 94 | c.543 others(111): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 3/17 | chr18 | TogoVar | |||||||
ARHGAP28_chr18_6724716_6920716 | 6909301 | T | TTTTCTTT others(87): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0227 | 1 | 248 | 0.0040 | 94 | c.209 others(111): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45899694 | G | GTTATATA others(87): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00639.hp2 others(17): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0013 | a0001c0001t0001a0002c0003t0001a0008c0013t0001 | a0001c0001t0001g0072 a0001c0001t0001g0140 a0001c0001t0001g0141 others(17): Show |
20 | 318 | 0.0629 | 94 | c.536 others(113): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45899694 | G | GTTATATA others(87): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 318 | 0.0031 | 94 | c.536 others(113): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219101 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 | 1 | 410 | 0.0024 | 94 | c.670 others(111): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608122 | A | ATATACAT others(87): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 314 | 0.0032 | 94 | c.478 others(113): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100643825 | T | TAAGTGAA others(87): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0011 | a0001c0011t0001a0001c0011t0002 | a0001c0011t0001g0297 a0001c0011t0002g0072 a0001c0011t0002g0073 |
3 | 314 | 0.0096 | 94 | c.373 others(111): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 23/41 | chr6 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112749980 | A | AGCGGGGT others(87): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(171): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(86): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(171): Show |
174 | 254 | 0.6850 | 94 | c.40- others(111): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112750275 | C | CCTTCAGC others(87): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0090 | 1 | 254 | 0.0039 | 94 | c.40- others(111): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112845764 | C | CGGCACTA others(87): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00639.hp2 others(24): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0024others(3): Show | a0001c0004t0003a0001c0004t0006a0001c0004t0028others(9): Show | a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 others(24): Show |
27 | 254 | 0.1063 | 94 | c.180 others(113): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(87): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 332 | 0.0030 | 94 | c.-22 others(115): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(87): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0322 | 1 | 332 | 0.0030 | 94 | c.-22 others(115): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82958798 | T | TGTGTGTG others(87): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0240 | 1 | 266 | 0.0038 | 94 | c.681 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83022245 | A | ACACCAGT others(87): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0059 | 1 | 266 | 0.0038 | 94 | c.298 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83022312 | G | GAGCTTAG others(87): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0014 | a0001c0014t0018 | a0001c0014t0018g0049 | 1 | 266 | 0.0038 | 94 | c.298 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83022735 | G | GAGCTTAG others(87): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0010 | a0002c0010t0007 | a0002c0010t0007g0222 | 1 | 266 | 0.0038 | 94 | c.298 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83022928 | T | TAGCACTG others(87): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0108 | 1 | 266 | 0.0038 | 94 | c.298 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83023111 | T | TAGCTTAG others(87): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0011a0001c0001t0012a0001c0011t0001others(2): Show | a0001c0001t0011g0067 a0001c0001t0012g0148 a0001c0011t0001g0144 others(3): Show |
6 | 266 | 0.0226 | 94 | c.298 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83023252 | T | TAGCTTAG others(87): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0015 | 1 | 266 | 0.0038 | 94 | c.298 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83023271 | C | CCCCACCT others(87): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03453.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0002a0001c0002t0016a0001c0014t0018 | a0001c0001t0002g0133 a0001c0002t0016g0134 a0001c0002t0016g0135 others(1): Show |
4 | 266 | 0.0150 | 94 | c.298 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83023272 | C | CCCACCTG others(87): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0246 | 1 | 266 | 0.0038 | 94 | c.298 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83023319 | C | CCCACCTG others(87): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02132.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0179 a0001c0001t0002g0058 others(5): Show |
8 | 266 | 0.0301 | 94 | c.298 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374880 | G | GAGGGAGG others(87): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 184 | 0.0054 | 94 | c.784 others(109): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374880 | G | GAGGGAGG others(87): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0013 | a0013c0057 | a0013c0057t0001 | a0013c0057t0001g0182 | 1 | 184 | 0.0054 | 94 | c.784 others(109): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045932 | A | ATTTATAT others(87): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03579.hp1 |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0001a0003c0001t0001 | a0001c0004t0001g0058 a0003c0001t0001g0028 |
2 | 74 | 0.0270 | 94 | c.202 others(113): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | chr17 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60468025 | A | AGTGATGG others(87): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0042 others(62): Show |
65 | 262 | 0.2481 | 94 | c.487 others(109): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(87): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 458 | 0.0022 | 94 | c.-43 others(105): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90819258 | T | TTCCACGG others(87): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 280 | 0.0036 | 94 | c.*39 others(105): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 3093 | chr15 | TogoVar | |||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTC others(87): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0150 | 1 | 224 | 0.0045 | 94 | c.76+ others(109): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTC others(87): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 224 | 0.0045 | 94 | c.76+ others(109): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTT others(87): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0152 | 1 | 224 | 0.0045 | 94 | c.76+ others(109): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BRD1_chr22_49768283_49832873 | 49802116 | A | ATTCCCCA others(87): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0048 |
2 | 258 | 0.0078 | 94 | c.152 others(113): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 3/12 | chr22 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1430635 | G | GGGTCTGG others(87): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02559.hp2 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0008 | a0001c0001t0003g0200 a0001c0001t0003g0201 a0002c0002t0008g0071 |
3 | 360 | 0.0083 | 94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430756 | T | TCAGCAGT others(87): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0002a0007 | a0002c0014a0007c0027 | a0002c0014t0010a0007c0027t0010 | a0002c0014t0010g0245 a0007c0027t0010g0244 |
2 | 360 | 0.0056 | 94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431109 | G | GTCTGGTC others(87): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 360 | 0.0028 | 94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1432243 | G | GGGTCTGG others(87): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0226 | 1 | 360 | 0.0028 | 94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1432505 | T | TCAGCAGT others(87): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0201 | 1 | 360 | 0.0028 | 94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570682 | G | GGAGGGGC others(87): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 306 | 0.0033 | 94 | c.-19 others(105): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1913 | chr19 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49605476 | A | ATTATATA others(87): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 186 | 0.0054 | 94 | c.225 others(113): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49606254 | A | ATACATAT others(87): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 186 | 0.0054 | 94 | c.225 others(113): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38374289 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0004 | a0002c0004t0183 | a0002c0004t0183g0008 | 1 | 224 | 0.0045 | 94 | c.115 others(115): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38374305 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0064 | 1 | 224 | 0.0045 | 94 | c.115 others(115): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar |