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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRF2_chr8_37838268_37854861 | 37841672 | G | GAGGGGCC others(8): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0026 | 15 | c.*28 others(26): Show |
BRF2 | ENSG00000104221.13 | transcript | ENST00000220659.11 | protein_coding | 1595 | chr8 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124990211 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0356 | 1 | 337 | 0.0030 | 15 | c.-35 others(26): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 3433 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124991694 | T | TTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0045 | a0002c0002t0045g0373 | 1 | 349 | 0.0029 | 15 | c.-20 others(26): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1950 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 125016825 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG03041.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0003g0169 a0002c0002t0001g0238 a0002c0002t0003g0235 others(3): Show |
6 | 33 | 0.1818 | 15 | c.316 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125019634 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01346.hp1 HG01952.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0040a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0040g0115 a0002c0002t0003g0206 a0002c0002t0003g0207 others(4): Show |
7 | 331 | 0.0211 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 125022518 | A | ATTATTTA others(8): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0051 | a0002c0002t0051g0041 | 1 | 407 | 0.0025 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125022541 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0066 | a0002c0002t0066g0256 | 1 | 201 | 0.0050 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125022541 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02970.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0012a0001c0001t0032others(4): Show | a0001c0001t0010g0395 a0001c0001t0012g0172 a0001c0001t0032g0091 others(4): Show |
7 | 207 | 0.0338 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125022541 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0032a0002c0002t0010 | a0001c0001t0010g0396 a0001c0001t0032g0144 a0002c0002t0010g0262 |
3 | 203 | 0.0148 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125023300 | C | CTTCCCTG others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(207): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0118 a0001c0001t0002g0007 a0001c0001t0002g0014 others(206): Show |
210 | 407 | 0.5160 | 15 | c.317 others(32): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280243 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 319 | 0.0031 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1442 | chr7 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 131 | 0.0076 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 131 | 0.0076 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 131 | 0.0076 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AGATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02451.hp2 HG03688.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(4): Show |
10 | 140 | 0.0714 | 15 | c.-15 others(26): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119237346 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0182 others(48): Show |
51 | 111 | 0.4595 | 15 | c.685 others(32): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190261443 | A | ACTATAAA others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 238 | 0.0042 | 15 | c.618 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277118 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 237 | 0.0042 | 15 | c.427 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190405450 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0083 |
2 | 222 | 0.0090 | 15 | c.236 others(34): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190453203 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 19 | 0.0526 | 15 | c.236 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190457460 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01081.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0095 a0001c0001t0001g0196 a0001c0001t0001g0197 others(43): Show |
46 | 156 | 0.2949 | 15 | c.-50 others(32): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61689026 | C | CTGTTATG others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00639.hp1 others(30): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0031 a0001c0001t0001g0072 a0001c0001t0002g0051 others(30): Show |
33 | 83 | 0.3976 | 15 | c.257 others(34): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765423 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 77 | 0.0130 | 15 | c.209 others(36): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61791488 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0259 | 1 | 54 | 0.0185 | 15 | c.147 others(34): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | |||||||
BRME1_chr19_13877348_13911117 | 13891135 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082 | 1 | 179 | 0.0056 | 15 | c.394 others(30): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BRME1_chr19_13877348_13911117 | 13891135 | T | TTTTTTAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(72): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0003a0004c0005others(4): Show | a0002c0002t0002a0002c0002t0010a0002c0003t0002others(5): Show | a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0017 others(50): Show |
75 | 253 | 0.2964 | 15 | c.394 others(30): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BRME1_chr19_13877348_13911117 | 13891135 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0194 | 1 | 179 | 0.0056 | 15 | c.394 others(30): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873784 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 124 | 0.0081 | 15 | c.*33 others(26): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1822 | chr14 | TogoVar | |||||||
BRPF1_chr3_9726735_9753015 | 9731752 | T | TCGCCGCC others(8): Show |
5_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02735.hp1 NA18949.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0015 a0001c0001t0003g0094 a0001c0004t0003g0066 |
4 | 423 | 0.0095 | 15 | c.-38 others(24): Show |
BRPF1 | ENSG00000156983.17 | transcript | ENST00000383829.7 | protein_coding | 1/14 | 2361 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1389917 | A | ACGGCTCG others(8): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 NA19010.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0020 | a0002c0002t0002g0143 a0002c0002t0020g0126 |
2 | 358 | 0.0056 | 15 | c.-36 others(24): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 16 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1446061 | G | GGCTGGGC others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG04204.hp2 |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0010a0002c0002t0023 | a0002c0002t0008g0115 a0002c0002t0010g0244 a0002c0002t0023g0230 |
3 | 358 | 0.0084 | 15 | c.122 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1454158 | G | GGGAGGGC others(8): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18977.hp2 |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0039 | a0002c0002t0012g0345 a0002c0002t0039g0341 |
2 | 221 | 0.0090 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1454158 | G | GGGGGGGC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(123): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(36): Show | a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 others(121): Show |
126 | 345 | 0.3652 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1454158 | G | GGGGGGGC others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 220 | 0.0045 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1454161 | G | AGGGCTCA others(8): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19054.hp2 |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0008 | 2 | 353 | 0.0057 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1454161 | G | GGGGCTCA others(8): Show |
intron_variant | MODIFIER | NA18990.hp2 NA18993.hp1 NA19070.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0017 | a0002c0002t0002g0088 a0002c0002t0007g0293 a0002c0002t0007g0295 others(1): Show |
4 | 355 | 0.0113 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1454176 | G | GGGGCTCA others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG02055.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0044others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0036 a0001c0001t0001g0046 others(17): Show |
21 | 299 | 0.0702 | 15 | c.154 others(32): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39286016 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0318 | 1 | 71 | 0.0141 | 15 | c.832 others(32): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80751981 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0141 | 1 | 42 | 0.0238 | 15 | c.431 others(32): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809742 | G | GAGAGAGA others(8): Show |
5_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG01099.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0030a0001c0001t0031others(2): Show | a0001c0001t0019g0038 a0001c0001t0019g0039 a0001c0001t0019g0042 others(6): Show |
9 | 263 | 0.0342 | 15 | c.-27 others(24): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 272 | chrX | TogoVar | ||||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0037 | 1 | 31 | 0.0323 | 15 | c.487 others(32): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570588 | T | TGGAGGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0023others(2): Show | a0001c0001t0003g0023 a0001c0001t0003g0099 a0001c0001t0003g0100 others(7): Show |
11 | 264 | 0.0417 | 15 | c.-20 others(26): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2007 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570619 | C | CGGAGGGG others(8): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 291 | 0.0034 | 15 | c.-20 others(26): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1976 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570627 | C | CGGGTGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0007 | 1 | 28 | 0.0357 | 15 | c.-20 others(26): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1968 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570630 | G | GTGGGGGA others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0003 | 1 | 303 | 0.0033 | 15 | c.-20 others(26): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1965 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570681 | G | GTGGGGGA others(8): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0008 | a0001c0002t0001g0086 a0001c0003t0008g0003 |
2 | 210 | 0.0095 | 15 | c.-19 others(26): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1914 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG02015.hp2 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0018 | a0001c0001t0001g0076 a0001c0001t0009g0004 a0001c0001t0018g0004 |
3 | 280 | 0.0107 | 15 | c.-23 others(26): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49587887 | T | TTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01081.hp1 others(31): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0027a0002c0002others(9): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0022others(13): Show | a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0106 others(31): Show |
34 | 41 | 0.8293 | 15 | c.224 others(34): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49624300 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01258.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0012 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0002g0114 a0001c0001t0002g0147 a0001c0001t0003g0095 others(6): Show |
9 | 39 | 0.2308 | 15 | c.225 others(30): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47963893 | C | CTTTCTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03704.hp2 NA18747.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0218 others(5): Show |
8 | 300 | 0.0267 | 15 | c.*43 others(26): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 4152 | chr19 | TogoVar |