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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GNT3_chr19_17790138_17818576 | 17792577 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0272 | 1 | 313 | 0.0032 | 19 | c.-26 others(30): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2560 | chr19 | TogoVar | |||||||
B3GNT5_chr3_183248253_183278385 | 183269230 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01255.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0084 others(15): Show |
27 | 211 | 0.1280 | 19 | c.-30 others(36): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83051259 | G | GGGGGCAG others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(23): Show | a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0002g0059 others(56): Show |
61 | 266 | 0.2293 | 19 | c.15+ others(32): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02886.hp1 HG03130.hp1 others(2): Show |
a0001a0003a0005others(1): Show | a0001c0013a0003c0004a0005c0006others(1): Show | a0001c0013t0020a0003c0004t0002a0005c0006t0002others(2): Show | a0001c0013t0020g0129 a0003c0004t0002g0305 a0005c0006t0002g0198 others(2): Show |
5 | 25 | 0.2000 | 19 | c.170 others(38): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545902 | T | TGAGAGGA others(12): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0047 | a0003c0047t0007 | a0003c0047t0007g0235 | 1 | 41 | 0.0244 | 19 | c.639 others(34): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545902 | T | TGCGAGGA others(12): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 41 | 0.0244 | 19 | c.639 others(34): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 369967 | G | GGGGCGCG others(12): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0178 | 1 | 174 | 0.0057 | 19 | c.151 others(32): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374748 | A | AAGGGAGG others(12): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0146 | 1 | 178 | 0.0056 | 19 | c.784 others(34): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375080 | A | AAGGGAGG others(12): Show |
intron_variant | MODIFIER | HG04199.hp1 NA19057.hp2 NA19081.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 a0002c0002t0001g0159 a0002c0002t0001g0163 |
3 | 174 | 0.0172 | 19 | c.784 others(34): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B9D1_chr17_19338175_19367723 | 19339314 | A | ACTCACAC others(12): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 19 | c.*39 others(30): Show |
B9D1 | ENSG00000108641.20 | transcript | ENST00000261499.11 | protein_coding | 3860 | chr17 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 27983942 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 4 | 0.2500 | 19 | c.206 others(36): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28040294 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0021 |
3 | 15 | 0.2000 | 19 | c.496 others(36): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28283018 | A | AAGGAAAG others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00733.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0053 others(22): Show |
25 | 125 | 0.2000 | 19 | c.935 others(38): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | chr2 | TogoVar | |||||||
BACE2_chr21_41163160_41287530 | 41168066 | T | TCTCCCCT others(12): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 270 | 0.0037 | 19 | c.-19 others(28): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 93 | chr21 | TogoVar | |||||||
BACE2_chr21_41163160_41287530 | 41174138 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0027 a0001c0001t0002g0195 a0001c0001t0004g0075 others(1): Show |
4 | 100 | 0.0400 | 19 | c.312 others(36): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90065270 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01993.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0113a0001c0005t0101 | a0001c0001t0113g0110 a0001c0005t0101g0039 |
2 | 9 | 0.2222 | 19 | c.-13 others(38): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 5/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092280 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0091 | a0001c0002t0091g0028 | 1 | 175 | 0.0057 | 19 | c.-16 others(38): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0092 | a0001c0003t0092g0017 | 1 | 100 | 0.0100 | 19 | c.-16 others(38): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02109.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0007a0001c0002t0020a0001c0002t0032others(3): Show | a0001c0002t0007g0159 a0001c0002t0020g0157 a0001c0002t0032g0008 others(3): Show |
6 | 105 | 0.0571 | 19 | c.-16 others(38): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0116 | 1 | 100 | 0.0100 | 19 | c.-16 others(38): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0138 | 1 | 100 | 0.0100 | 19 | c.-16 others(38): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0003 | a0001c0003t0115 | a0001c0003t0115g0136 | 1 | 100 | 0.0100 | 19 | c.-16 others(38): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 |
a0001a0004 | a0001c0004a0004c0010 | a0001c0004t0088a0004c0010t0106 | a0001c0004t0088g0010 a0004c0010t0106g0060 |
2 | 54 | 0.0370 | 19 | c.-16 others(40): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0026 | 1 | 53 | 0.0189 | 19 | c.-16 others(40): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01934.hp1 NA19062.hp1 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0006a0001c0005t0099 | a0001c0001t0001g0064 a0001c0002t0006g0073 a0001c0005t0099g0014 |
3 | 55 | 0.0545 | 19 | c.-16 others(40): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119665092 | T | TGTGTGTG others(12): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0005g0047 |
4 | 221 | 0.0181 | 19 | c.181 others(36): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119675840 | C | CCCTTCCC others(12): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0039 | 2 | 267 | 0.0075 | 19 | c.910 others(34): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | chr10 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38180522 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0280 | 1 | 154 | 0.0065 | 19 | c.270 others(36): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0227 | 1 | 158 | 0.0063 | 19 | c.128 others(36): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0210 | 1 | 158 | 0.0063 | 19 | c.128 others(36): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81055569 | G | GGTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 257 | 0.0039 | 19 | c.130 others(36): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81055574 | G | GTTTTTTG others(12): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0234 | 1 | 27 | 0.0370 | 19 | c.130 others(36): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81105002 | G | GATCTCCC others(12): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0357 | 1 | 374 | 0.0027 | 19 | c.126 others(36): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAP1_chr3_52396008_52415008 | 52410125 | C | CGGAGGGA others(12): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 346 | 0.0058 | 19 | c.-24 others(28): Show |
BAP1 | ENSG00000163930.10 | transcript | ENST00000460680.6 | protein_coding | 118 | chr3 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90709269 | A | AAGAAAGA others(12): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 444 | 0.0023 | 19 | c.*30 others(30): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2269 | chr1 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 HG02148.hp2 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042 a0001c0001t0002g0005 a0001c0001t0002g0011 others(2): Show |
7 | 21 | 0.3333 | 19 | c.-23 others(30): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | |||||||
BARX1_chr9_93946627_93960355 | 93950450 | A | ACCCCCCC others(12): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 297 | 0.0034 | 19 | c.*17 others(30): Show |
BARX1 | ENSG00000131668.14 | transcript | ENST00000253968.11 | protein_coding | 1176 | chr9 | TogoVar | |||||||
BARX2_chr11_129370848_129457279 | 129414065 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0291 | 1 | 363 | 0.0028 | 19 | c.188 others(38): Show |
BARX2 | ENSG00000043039.7 | transcript | ENST00000281437.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01123.hp2 HG01175.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(6): Show |
14 | 85 | 0.1647 | 19 | c.*53 others(30): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75539424 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 34 | 0.0294 | 19 | c.169 others(36): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BAX_chr19_48949875_48966798 | 48954808 | A | AGCGGCCA others(12): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0113 |
2 | 416 | 0.0048 | 19 | c.-12 others(28): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 66 | chr19 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34866502 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp2 others(60): Show |
a0001a0003 | a0001c0002a0003c0010 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0105 a0001c0002t0002g0058 a0001c0002t0002g0059 others(60): Show |
63 | 166 | 0.3795 | 19 | c.114 others(36): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34872938 | A | ACAAAAAC others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0057 | 1 | 372 | 0.0027 | 19 | c.113 others(36): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 2/26 | chr14 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73497065 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0002g0059 a0001c0001t0003g0195 a0001c0001t0014g0033 others(1): Show |
4 | 130 | 0.0308 | 19 | c.571 others(36): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 4/19 | chr7 | TogoVar | |||||||
BAZ2A_chr12_56590596_56635326 | 56621204 | C | CATTCTCT others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 314 | 0.0032 | 19 | c.-2- others(34): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 1/28 | chr12 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159491720 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0110 | 1 | 63 | 0.0159 | 19 | c.-2- others(36): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74035584 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 107 | 0.0093 | 19 | c.495 others(36): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01071.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0119 a0001c0001t0001g0193 others(13): Show |
18 | 213 | 0.0845 | 19 | c.220 others(34): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG02559.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 others(2): Show |
5 | 273 | 0.0183 | 19 | c.*44 others(30): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACACAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0154 |
2 | 270 | 0.0074 | 19 | c.*44 others(30): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar |