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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPIFC_chr22_32408845_32469446 | 32464646 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 132 | 0.0076 | 18 | c.-36 others(27): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 201 | chr22 | TogoVar | |||||||
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 47 | 0.0213 | 18 | c.*24 others(29): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | |||||||
BPNT2_chr8_56952931_56998867 | 56956044 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG04228.hp2 NA18949.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0039 a0001c0001t0002g0195 others(7): Show |
11 | 32 | 0.3438 | 18 | c.*77 others(29): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1886 | chr8 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67843754 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0090 | 1 | 75 | 0.0133 | 18 | c.614 others(37): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67917130 | C | CATTGTCC others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0108 | 1 | 255 | 0.0039 | 18 | c.530 others(37): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | chr17 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67917131 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0003 | 1 | 99 | 0.0101 | 18 | c.530 others(37): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67959642 | T | TCCTCCAG others(11): Show |
conservative_inframe_insertion | MODERATE | NA20805.hp1 | a0014 | a0014c0018 | a0014c0018t0002 | a0014c0018t0002g0208 | 1 | 165 | 0.0061 | 18 | c.803 others(27): Show |
p.Ala others(15): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 24/28 | 8275/11075 | 8053/8763 | 2685/2920 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
BPTF_chr17_67820503_67989378 | 67979169 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02895.hp2 HG02965.hp1 |
a0001 | a0001c0003a0001c0005a0001c0009 | a0001c0003t0003a0001c0005t0005a0001c0009t0003 | a0001c0003t0003g0086 a0001c0005t0005g0268 a0001c0009t0003g0083 |
3 | 23 | 0.1304 | 18 | c.872 others(37): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67981866 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02132.hp1 NA19012.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211 a0002c0002t0002g0214 a0002c0002t0002g0225 |
3 | 24 | 0.1250 | 18 | c.872 others(35): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67984630 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01074.hp2 others(13): Show |
a0001a0009 | a0001c0001a0001c0016a0009c0023 | a0001c0001t0001a0001c0001t0002a0001c0016t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 others(13): Show |
16 | 30 | 0.5333 | 18 | c.*23 others(29): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 253 | chr17 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140746834 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0130 | 1 | 188 | 0.0053 | 18 | c.211 others(37): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 17/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140812160 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03239.hp1 NA18947.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0028a0001c0003t0002 | a0001c0001t0002g0090 a0001c0001t0028g0158 a0001c0003t0002g0089 |
3 | 121 | 0.0248 | 18 | c.505 others(35): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 3/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140884429 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 48 | 0.0208 | 18 | c.139 others(37): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140746834 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0134 | 1 | 194 | 0.0052 | 18 | c.199 others(37): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 16/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140812160 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03239.hp1 NA18947.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0093 a0001c0001t0002g0163 a0001c0003t0002g0092 |
3 | 125 | 0.0240 | 18 | c.505 others(35): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 3/17 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140884429 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 49 | 0.0204 | 18 | c.139 others(37): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAP_chr12_111637146_111690956 | 111651225 | T | TTAATAAT others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 134 | 0.0075 | 18 | c.131 others(37): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 10/11 | chr12 | TogoVar | |||||||
BRAP_chr12_111637146_111690956 | 111667698 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01099.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0024 others(24): Show |
30 | 96 | 0.3125 | 18 | c.748 others(35): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 5/11 | chr12 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552081 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01168.hp1 NA18974.hp1 NA19055.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0014 | a0001c0001t0001a0001c0003t0001a0001c0014t0001 | a0001c0001t0001g0057 a0001c0003t0001g0180 a0001c0003t0001g0181 others(2): Show |
5 | 337 | 0.0148 | 18 | c.127 others(35): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03225.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0168 a0001c0002t0001g0033 |
3 | 243 | 0.0123 | 18 | c.127 others(35): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0157 | 1 | 241 | 0.0041 | 18 | c.127 others(35): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552106 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0040 |
2 | 242 | 0.0083 | 18 | c.127 others(35): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRD3_chr9_134025305_134073026 | 134060587 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0020a0001c0013t0086 | a0001c0002t0020g0215 a0001c0002t0020g0216 a0001c0013t0086g0266 |
3 | 192 | 0.0156 | 18 | c.-11 others(37): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15308115 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0011 | a0003c0011t0061 | a0003c0011t0061g0101 | 1 | 72 | 0.0139 | 18 | c.-35 others(37): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15310358 | T | TCCCCCCC others(11): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0140 | 1 | 49 | 0.0204 | 18 | c.-35 others(37): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | |||||||
BRDT_chr1_91944401_92019421 | 91945279 | A | AATATATA others(11): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0205 |
2 | 110 | 0.0182 | 18 | c.-44 others(29): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4121 | chr1 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124997214 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03579.hp2 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0034 | a0001c0001t0001g0088 a0001c0001t0004g0089 a0001c0001t0034g0081 |
3 | 22 | 0.1364 | 18 | c.213 others(35): 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(11): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0056 | a0001c0001t0002g0019 a0001c0001t0056g0027 |
2 | 29 | 0.0690 | 18 | c.316 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18983.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0180 a0002c0002t0003g0229 |
2 | 326 | 0.0061 | 18 | c.317 others(35): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 125022537 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0236 | 1 | 407 | 0.0025 | 18 | c.317 others(35): 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(11): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 201 | 0.0050 | 18 | c.317 others(35): 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(11): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18949.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0064 | a0001c0001t0002g0153 a0001c0001t0002g0283 a0001c0001t0064g0322 |
3 | 203 | 0.0148 | 18 | c.317 others(35): 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(11): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 319 | 0.0031 | 18 | c.-15 others(29): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1442 | chr7 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AATATATA others(11): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 131 | 0.0076 | 18 | c.-15 others(29): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98280247 | G | GATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 2 | 118 | 0.0169 | 18 | c.-15 others(29): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1438 | chr7 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119237346 | C | CATTATTA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01123.hp1 HG01358.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0002g0234 others(24): Show |
27 | 87 | 0.3103 | 18 | c.685 others(35): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119367217 | G | GTGTGATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0001 a0001c0002t0001g0194 |
2 | 199 | 0.0101 | 18 | c.-51 others(35): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119367221 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02015.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0158 a0001c0002t0001g0157 |
2 | 19 | 0.1053 | 18 | c.-51 others(35): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277087 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01517.hp2 HG03540.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0112 others(4): Show |
7 | 81 | 0.0864 | 18 | c.427 others(35): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277087 | T | TTTTATAT others(11): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 75 | 0.0133 | 18 | c.427 others(35): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277113 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00642.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0117 others(4): Show |
7 | 188 | 0.0372 | 18 | c.427 others(35): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190301204 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 50 | 0.0200 | 18 | c.237 others(37): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190396713 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02083.hp2 HG03225.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0176 others(5): Show |
8 | 56 | 0.1429 | 18 | c.236 others(37): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61846246 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01358.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0060 | a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 others(1): Show |
4 | 262 | 0.0153 | 18 | c.627 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | |||||||
BRIX1_chr5_34910711_34930996 | 34929764 | G | GCCCGGGC others(11): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0061 |
5 | 437 | 0.0114 | 18 | c.*42 others(29): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 3769 | chr5 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10123732 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0049 a0001c0001t0003g0040 a0001c0001t0008g0103 |
3 | 29 | 0.1034 | 18 | c.119 others(35): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRK1_chr3_10110675_10132190 | 10131702 | T | TAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 a0001c0001t0004g0086 |
2 | 62 | 0.0323 | 18 | c.*54 others(29): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 4513 | chr3 | TogoVar | |||||||
BRME1_chr19_13877348_13911117 | 13877367 | T | TGGAGCCG others(11): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02280.hp1 others(10): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0010others(1): Show | a0001c0001t0003a0001c0001t0006a0002c0002t0015others(2): Show | a0001c0001t0003g0004 a0001c0001t0003g0123 a0001c0001t0003g0125 others(5): Show |
13 | 321 | 0.0405 | 18 | c.*54 others(29): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 4980 | chr19 | TogoVar | |||||||
BRME1_chr19_13877348_13911117 | 13882215 | G | GGAGATTC others(11): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 18 | c.*58 others(27): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 132 | chr19 | TogoVar | |||||||
BRME1_chr19_13877348_13911117 | 13891135 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020 | 2 | 180 | 0.0111 | 18 | c.394 others(33): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 5/8 | chr19 | TogoVar |