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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRINP1_chr9_119161629_119374435 | 119249860 | G | GAGGGAGG others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03098.hp2 HG03225.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0187 a0001c0003t0001g0195 a0001c0005t0001g0190 |
3 | 119 | 0.0252 | 13 | c.219 others(28): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190165460 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0104 a0001c0001t0002g0207 |
2 | 189 | 0.0106 | 13 | c.962 others(30): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190453203 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0040 others(4): Show |
7 | 25 | 0.2800 | 13 | c.236 others(30): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61683130 | C | CAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0005 | a0001c0005t0044 | a0001c0005t0044g0082 | 1 | 260 | 0.0038 | 13 | c.*16 others(22): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 20/20 | 165 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765423 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0126 | 1 | 77 | 0.0130 | 13 | c.209 others(34): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765423 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0033 | 1 | 77 | 0.0130 | 13 | c.209 others(34): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61787393 | T | TATATTTA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(198): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(59): Show | a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0002g0004 others(197): Show |
201 | 260 | 0.7731 | 13 | c.147 others(32): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10111390 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 a0001c0001t0005g0074 |
2 | 217 | 0.0092 | 13 | c.-43 others(24): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 4284 | chr3 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1394383 | A | ATGGAGAT others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02976.hp1 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0045a0001c0003t0014a0002c0002t0015 | a0001c0001t0045g0041 a0001c0003t0014g0038 a0002c0002t0015g0016 others(1): Show |
4 | 323 | 0.0124 | 13 | c.91+ others(28): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1394528 | C | CTGGAGAT others(6): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18952.hp1 NA18959.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0059 a0001c0001t0001g0061 a0002c0002t0002g0018 |
3 | 358 | 0.0084 | 13 | c.91+ others(28): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1394606 | A | ATGGAGAT others(6): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0288 | 1 | 358 | 0.0028 | 13 | c.91+ others(28): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1394725 | A | ATGGAGAT others(6): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0067 | a0001c0001t0006g0245 a0001c0001t0067g0247 |
2 | 358 | 0.0056 | 13 | c.91+ others(28): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1394804 | C | CTGGAGAT others(6): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 358 | 0.0028 | 13 | c.91+ others(28): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1394870 | A | ATGGAGAT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01943.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0043others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 others(4): Show |
7 | 357 | 0.0196 | 13 | c.91+ others(28): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429407 | G | GGGTGTGC others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0149 | 1 | 196 | 0.0051 | 13 | c.92- others(28): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39185295 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG02257.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0010a0003c0004t0014 | a0003c0004t0010g0090 a0003c0004t0010g0092 a0003c0004t0010g0094 others(1): Show |
4 | 59 | 0.0678 | 13 | c.*10 others(26): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 186 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39203438 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG03239.hp1 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0128 a0003c0004t0005g0132 a0003c0004t0005g0137 |
3 | 169 | 0.0178 | 13 | c.436 others(30): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 37/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39207488 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0316 a0001c0001t0004g0265 |
2 | 335 | 0.0060 | 13 | c.419 others(32): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 36/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39248641 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19006.hp2 NA19070.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210 a0002c0002t0001g0241 |
2 | 13 | 0.1538 | 13 | c.235 others(30): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80730425 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0053 | 1 | 263 | 0.0038 | 13 | c.112 others(30): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 12/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809744 | G | GAGAGAGA others(6): Show |
5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01070.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0033a0001c0001t0054others(3): Show | a0001c0001t0032g0049 a0001c0001t0032g0051 a0001c0001t0033g0046 others(5): Show |
8 | 262 | 0.0305 | 13 | c.-27 others(22): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 274 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809759 | A | AGAGAGAG others(6): Show |
5_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0119 | 1 | 49 | 0.0204 | 13 | c.-28 others(22): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | ||||||
BSCL2_chr11_62685275_62712424 | 62696276 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0032 | 1 | 319 | 0.0031 | 13 | c.487 others(30): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 31 | 0.0323 | 13 | c.487 others(30): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570610 | G | GGGAGGGG others(6): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0168 | 1 | 292 | 0.0034 | 13 | c.-20 others(24): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1985 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570683 | T | TGGGAGGG others(6): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 a0001c0001t0003g0073 |
3 | 29 | 0.1034 | 13 | c.-19 others(24): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1912 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570690 | G | GCGGAGGG others(6): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0058 | 1 | 276 | 0.0036 | 13 | c.-19 others(24): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1905 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02717.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0155a0001c0001t0219a0001c0001t0260others(1): Show | a0001c0001t0155g0080 a0001c0001t0219g0073 a0001c0001t0260g0045 others(1): Show |
4 | 281 | 0.0142 | 13 | c.-23 others(24): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49613307 | A | AGAGAGAG others(6): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0143 | 1 | 184 | 0.0054 | 13 | c.225 others(32): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49624299 | C | CATTTTTT others(6): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 184 | 0.0054 | 13 | c.225 others(28): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49624300 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(69): Show |
a0001a0002a0004others(16): Show | a0001c0001a0001c0016a0001c0017others(23): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(35): Show | a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0106 others(69): Show |
72 | 102 | 0.7059 | 13 | c.225 others(28): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49673087 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG04228.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0006 | a0001c0001t0002g0147 a0003c0004t0006g0032 |
2 | 24 | 0.0833 | 13 | c.*56 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1539 | chr3 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969684 | G | GAGAGAGA others(6): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0289 a0001c0001t0003g0153 |
2 | 66 | 0.0303 | 13 | c.*3- others(28): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969684 | G | GGGAGAGA others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 65 | 0.0154 | 13 | c.*3- others(28): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPRY_chr9_113344541_113376222 | 113347004 | T | TCTTTCTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 a0001c0001t0002g0319 |
2 | 445 | 0.0045 | 13 | c.-25 others(24): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2536 | chr9 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17410529 | T | TATTATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 260 | 0.0038 | 13 | c.-49 others(24): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4900 | chr19 | TogoVar | |||||||
BSX_chr11_122972570_122986834 | 122983523 | G | GAAAGAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02630.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0061 a0002c0002t0001g0009 |
4 | 29 | 0.1379 | 13 | c.-18 others(24): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 1690 | chr11 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 91925516 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0306 a0001c0001t0003g0177 |
2 | 152 | 0.0132 | 13 | c.14+ others(28): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91942295 | A | AAGTTTGT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 a0001c0001t0002g0171 |
2 | 244 | 0.0082 | 13 | c.254 others(28): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 92032009 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01192.hp2 others(24): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0001a0001c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(23): Show |
27 | 42 | 0.6429 | 13 | c.*30 others(24): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 573 | chr10 | TogoVar | |||||||
BTBD17_chr17_74351416_74366868 | 74365044 | C | CATATATA others(6): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 88 | 0.0114 | 13 | c.-32 others(24): Show |
BTBD17 | ENSG00000204347.4 | transcript | ENST00000375366.4 | protein_coding | 3177 | chr17 | TogoVar | |||||||
BTBD1_chr15_83011423_83072252 | 83032977 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 others(4): Show |
7 | 326 | 0.0215 | 13 | c.863 others(30): Show |
BTBD1 | ENSG00000064726.10 | transcript | ENST00000261721.9 | protein_coding | 4/7 | chr15 | TogoVar | |||||||
BTBD1_chr15_83011423_83072252 | 83051904 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 325 | 0.0031 | 13 | c.559 others(30): Show |
BTBD1 | ENSG00000064726.10 | transcript | ENST00000261721.9 | protein_coding | 2/7 | chr15 | TogoVar | |||||||
BTBD2_chr19_1980448_2020714 | 1983398 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0246 | 1 | 26 | 0.0385 | 13 | c.*30 others(24): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2049 | chr19 | TogoVar | |||||||
BTBD2_chr19_1980448_2020714 | 2017831 | T | TATTTTTA others(6): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0142 | 1 | 356 | 0.0028 | 13 | c.-21 others(24): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2118 | chr19 | TogoVar | |||||||
BTBD2_chr19_1980448_2020714 | 2018443 | T | TCCTGCCT others(6): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 362 | 0.0028 | 13 | c.-27 others(24): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 2730 | chr19 | TogoVar | |||||||
BTBD7_chr14_93232550_93338036 | 93287228 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02976.hp1 HG03516.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0027a0001c0001t0028a0002c0002t0031others(1): Show | a0001c0001t0027g0130 a0001c0001t0027g0154 a0001c0001t0028g0166 others(2): Show |
5 | 339 | 0.0147 | 13 | c.116 others(32): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
BTBD7_chr14_93232550_93338036 | 93324421 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(85): Show |
a0001a0007 | a0001c0001a0001c0005a0007c0010 | a0001c0001t0002a0001c0001t0012a0001c0001t0032others(9): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(82): Show |
88 | 365 | 0.2411 | 13 | c.-10 others(32): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38205879 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0021a0001c0001t0030others(3): Show | a0001c0001t0005g0030 a0001c0001t0021g0136 a0001c0001t0021g0217 others(4): Show |
7 | 39 | 0.1795 | 13 | c.156 others(34): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38417801 | A | AGAGAGAG others(6): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02647.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0003g0162 a0001c0001t0010g0074 a0001c0001t0010g0092 others(3): Show |
6 | 105 | 0.0571 | 13 | c.115 others(34): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar |