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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRDT_chr1_91944401_92019421 | 91945279 | A | AATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0227 |
2 | 110 | 0.0182 | 20 | c.-44 others(31): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4121 | chr1 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105248555 | C | CGGCGGGT others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0036 a0001c0001t0002g0028 a0001c0001t0007g0071 |
3 | 68 | 0.0441 | 20 | c.544 others(37): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 5/17 | chr14 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124997214 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0024a0001c0001t0031others(3): Show | a0001c0001t0013g0092 a0001c0001t0024g0094 a0001c0001t0024g0095 others(4): Show |
7 | 26 | 0.2692 | 20 | c.213 others(37): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125016825 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0162 | 1 | 28 | 0.0357 | 20 | c.316 others(37): 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(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02451.hp2 NA19080.hp2 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0004a0002c0002t0029a0002c0008t0042 | a0002c0002t0004g0236 a0002c0002t0029g0252 a0002c0008t0042g0250 |
3 | 327 | 0.0092 | 20 | c.317 others(37): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 125022541 | A | ATTTATTT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0016a0001c0001t0077others(1): Show | a0001c0001t0009g0068 a0001c0001t0009g0075 a0001c0001t0016g0062 others(4): Show |
7 | 207 | 0.0338 | 20 | c.317 others(37): 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(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0024a0001c0001t0035a0001c0001t0075others(4): Show | a0001c0001t0024g0095 a0001c0001t0035g0093 a0001c0001t0035g0100 others(5): Show |
8 | 208 | 0.0385 | 20 | c.317 others(37): 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(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0024 | a0001c0001t0016g0063 a0001c0001t0024g0094 |
2 | 202 | 0.0099 | 20 | c.317 others(37): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280243 | A | AATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 319 | 0.0031 | 20 | c.-15 others(31): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1442 | chr7 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAAATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01099.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0029 |
4 | 134 | 0.0299 | 20 | c.-15 others(31): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119268285 | T | TAGATAGA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 | 1 | 116 | 0.0086 | 20 | c.219 others(39): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119268285 | T | TAGATAGA others(13): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01952.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0151 a0001c0002t0001g0069 a0001c0002t0001g0108 others(3): Show |
6 | 121 | 0.0496 | 20 | c.219 others(39): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119367217 | G | GTGTGATA others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 198 | 0.0051 | 20 | c.-51 others(37): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119367221 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02109.hp2 HG02129.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0002t0001g0153 others(2): Show |
5 | 22 | 0.2273 | 20 | c.-51 others(37): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP2_chr1_177165958_177287422 | 177179567 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG02055.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0014 | a0001c0001t0001g0160 a0001c0001t0003g0159 a0001c0001t0003g0161 others(1): Show |
4 | 250 | 0.0160 | 20 | c.-77 others(37): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190265539 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0122 a0001c0001t0003g0003 |
2 | 38 | 0.0526 | 20 | c.428 others(35): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277087 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(18): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0054 others(18): Show |
21 | 95 | 0.2211 | 20 | c.427 others(37): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277087 | T | TTTTATAT others(13): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 75 | 0.0133 | 20 | c.427 others(37): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277113 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0090 others(8): Show |
11 | 192 | 0.0573 | 20 | c.427 others(37): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190301166 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 236 | 0.0042 | 20 | c.237 others(39): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190396713 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01109.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0123 a0001c0001t0001g0173 a0001c0001t0001g0193 others(3): Show |
6 | 54 | 0.1111 | 20 | c.236 others(39): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190457460 | A | AAAAACAA others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02257.hp1 others(19): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0004c0004t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(19): Show |
22 | 132 | 0.1667 | 20 | c.-50 others(37): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61689026 | C | CTGTTATG others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00673.hp2 others(89): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(89): Show |
92 | 142 | 0.6479 | 20 | c.257 others(39): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10123732 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01192.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0050 others(6): Show |
14 | 40 | 0.3500 | 20 | c.119 others(37): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRME1_chr19_13877348_13911117 | 13891135 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0196 | 1 | 179 | 0.0056 | 20 | c.394 others(35): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35852990 | G | GTATCTAT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02683.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0191 a0001c0001t0001g0192 |
3 | 244 | 0.0123 | 20 | c.442 others(37): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0248 |
2 | 26 | 0.0769 | 20 | c.*27 others(31): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTGTATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG03453.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0063 a0001c0001t0001g0105 a0001c0001t0003g0009 |
3 | 27 | 0.1111 | 20 | c.*27 others(31): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1446050 | G | GGGCTGGG others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0321 | 1 | 358 | 0.0028 | 20 | c.122 others(37): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1466268 | T | TACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01261.hp1 HG02273.hp1 others(4): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0006a0001c0001t0074others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0006g0213 others(4): Show |
7 | 152 | 0.0461 | 20 | c.*55 others(31): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 3580 | chr11 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39185295 | T | TAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0003 | a0004c0003t0017 | a0004c0003t0017g0013 | 1 | 56 | 0.0179 | 20 | c.*10 others(33): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 186 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39207451 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18981.hp2 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0119 a0003c0004t0005g0130 |
2 | 77 | 0.0260 | 20 | c.419 others(39): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 36/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39244921 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01071.hp2 HG01081.hp1 others(22): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0003a0004c0006others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(8): Show | a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0297 others(22): Show |
25 | 96 | 0.2604 | 20 | c.248 others(39): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39248641 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0233 | 1 | 12 | 0.0833 | 20 | c.235 others(37): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80700433 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(35): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(18): Show | a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 others(35): Show |
38 | 40 | 0.9500 | 20 | c.283 others(37): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80730389 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18906.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0048a0001c0001t0076 | a0001c0001t0006g0112 a0001c0001t0048g0012 a0001c0001t0076g0173 |
3 | 52 | 0.0577 | 20 | c.112 others(37): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 12/40 | chrX | TogoVar | |||||||
BSG_chr19_567596_588493 | 570772 | G | GGGGGTGA others(13): Show |
upstream_gene_variant | MODIFIER | NA19060.hp2 | a0007 | a0007c0017 | a0007c0017t0002 | a0007c0017t0002g0007 | 1 | 147 | 0.0068 | 20 | c.-18 others(31): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1823 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570772 | G | GGGGTGAG others(13): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0054 | 1 | 147 | 0.0068 | 20 | c.-18 others(31): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1823 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570772 | G | GGGGTGAG others(13): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01069.hp2 others(17): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0015others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0004others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0005g0005 others(11): Show |
20 | 166 | 0.1205 | 20 | c.-18 others(31): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1823 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570772 | G | GGGTGTGA others(13): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0003 | 1 | 147 | 0.0068 | 20 | c.-18 others(31): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1823 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0028 | 2 | 279 | 0.0072 | 20 | c.-23 others(31): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49587887 | T | TTTTTCTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(27): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0017a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(10): Show | a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0114 others(27): Show |
30 | 37 | 0.8108 | 20 | c.224 others(39): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49613303 | C | CGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01109.hp1 others(6): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0015 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0002g0104 a0001c0001t0002g0132 a0001c0001t0002g0176 others(6): Show |
9 | 24 | 0.3750 | 20 | c.225 others(39): 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(13): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 HG02735.hp2 NA18979.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0003a0001c0001t0011a0001c0016t0003 | a0001c0001t0003g0117 a0001c0001t0011g0097 a0001c0016t0003g0163 |
3 | 25 | 0.1200 | 20 | c.*56 others(31): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1539 | chr3 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47963893 | C | CTTTCTTT others(13): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0325 |
2 | 294 | 0.0068 | 20 | c.*43 others(31): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 4152 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969682 | G | GGAGAGAG others(13): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 442 | 0.0023 | 20 | c.*3- others(35): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969684 | G | GGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01192.hp1 HG01943.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0182 a0001c0001t0001g0222 a0001c0001t0001g0264 others(9): Show |
12 | 76 | 0.1579 | 20 | c.*3- others(35): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47978001 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0108 a0001c0001t0004g0351 |
2 | 37 | 0.0541 | 20 | c.125 others(35): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
BSPRY_chr9_113344541_113376222 | 113352480 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG03831.hp1 HG03834.hp2 NA19010.hp2 |
a0001a0002 | a0001c0002a0001c0006a0002c0003 | a0001c0002t0007a0001c0006t0002a0002c0003t0006 | a0001c0002t0007g0249 a0001c0006t0002g0286 a0002c0003t0006g0285 |
3 | 228 | 0.0132 | 20 | c.202 others(37): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113357886 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0091 | 1 | 40 | 0.0250 | 20 | c.301 others(37): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |