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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AZGP1_chr7_99961730_99981031 | 99976855 | C | CGGAGCGG others(5): Show |
upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 430 | 0.0023 | 12 | c.-83 others(21): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 825 | chr7 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 823450 | A | AAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(38): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0037 others(7): Show |
41 | 250 | 0.1640 | 12 | c.-43 others(23): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4386 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 823450 | A | AAAACAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG02145.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0005 a0001c0003t0001g0042 |
2 | 211 | 0.0095 | 12 | c.-43 others(23): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4386 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 829936 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03669.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 2 | 147 | 0.0136 | 12 | c.360 others(27): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 833272 | T | TAAGAAGA others(5): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 NA19007.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0002t0001g0002 |
2 | 311 | 0.0064 | 12 | c.*13 others(23): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1255 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | T | TAAGAAGA others(5): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 HG02055.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0005 |
2 | 140 | 0.0143 | 12 | c.*14 others(23): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | T | TAATAATA others(5): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 139 | 0.0072 | 12 | c.*14 others(23): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 836455 | G | GGAGACAG others(5): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 70 | 0.0143 | 12 | c.*45 others(23): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4438 | chr19 | TogoVar | |||||||
B2M_chr15_44706517_44723145 | 44721693 | A | ACACCACC others(5): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 113 | 0.0088 | 12 | c.*41 others(23): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3549 | chr15 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0332 | 1 | 247 | 0.0040 | 12 | c.652 others(29): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235509023 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0043 | a0001c0001t0010g0021 a0001c0001t0043g0230 |
2 | 221 | 0.0090 | 12 | c.-47 others(23): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4572 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167303682 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0118 | 1 | 26 | 0.0385 | 12 | c.-51 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167400166 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 others(36): Show |
39 | 56 | 0.6964 | 12 | c.-51 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167512546 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02723.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(2): Show | a0001c0001t0001g0069 a0001c0001t0011g0009 a0001c0001t0021g0035 others(2): Show |
5 | 84 | 0.0595 | 12 | c.-41 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167512568 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0091 | 1 | 80 | 0.0125 | 12 | c.-41 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167512591 | T | TGTATATA others(5): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 115 | 0.0087 | 12 | c.-41 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167512596 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0029 a0001c0001t0003g0112 a0001c0001t0006g0040 others(5): Show |
8 | 113 | 0.0708 | 12 | c.-41 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167563783 | A | ACCCCCCC others(5): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0054 | 1 | 113 | 0.0088 | 12 | c.-41 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167564133 | C | CTCACTTC others(5): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 116 | 0.0086 | 12 | c.-41 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167588818 | T | TTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0101 | 1 | 83 | 0.0120 | 12 | c.-40 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167612367 | T | TTTATTAT others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0023 a0001c0001t0003g0002 a0001c0001t0006g0071 others(2): Show |
5 | 16 | 0.3125 | 12 | c.-40 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167625942 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0069 a0001c0001t0002g0010 |
2 | 33 | 0.0606 | 12 | c.-40 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167625985 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 1 | 113 | 0.0088 | 12 | c.-40 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167676516 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0080 | 1 | 34 | 0.0294 | 12 | c.-35 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167776040 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 19 | 0.0526 | 12 | c.-35 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167803081 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02109.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0027others(1): Show | a0001c0001t0016g0077 a0001c0001t0019g0020 a0001c0001t0027g0036 others(1): Show |
4 | 19 | 0.2105 | 12 | c.-35 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167825283 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0032 | a0001c0001t0003g0002 a0001c0001t0032g0103 |
2 | 69 | 0.0290 | 12 | c.-23 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167875969 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0099 | 1 | 111 | 0.0090 | 12 | c.*59 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1925 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167876037 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0099 | 1 | 115 | 0.0087 | 12 | c.*60 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1993 | chr2 | TogoVar | |||||||
B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCCCCC others(5): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02004.hp2 HG04115.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0006g0050 |
4 | 137 | 0.0292 | 12 | c.-12 others(23): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | |||||||
B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCTTAG others(5): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02615.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0021 others(2): Show |
14 | 147 | 0.0952 | 12 | c.-12 others(23): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39623233 | C | CCCTTCCT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01261.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0178 a0001c0001t0001g0264 others(10): Show |
14 | 243 | 0.0576 | 12 | c.-39 others(33): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39623237 | C | CCCTTCCT others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01952.hp2 HG02129.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0070others(3): Show | a0001c0001t0001g0190 a0001c0001t0013g0265 a0001c0001t0070g0175 others(5): Show |
8 | 156 | 0.0513 | 12 | c.-39 others(33): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639288 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18959.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0098 | a0001c0001t0005g0197 a0002c0002t0098g0188 |
2 | 265 | 0.0075 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639346 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0291 | 1 | 329 | 0.0030 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0087 | a0002c0002t0087g0180 | 1 | 224 | 0.0045 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCTTTC others(5): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0084 | 1 | 224 | 0.0045 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639347 | T | TTTCTTTC others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03942.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0026a0002c0002t0096 | a0001c0003t0026g0136 a0002c0002t0096g0314 |
2 | 225 | 0.0089 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639358 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0052 | 1 | 331 | 0.0030 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39639391 | C | CTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0123 | a0001c0003t0123g0138 | 1 | 275 | 0.0036 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCCCTTT others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0035 | 1 | 175 | 0.0057 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTCTTT others(5): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0105 | a0002c0002t0105g0099 | 1 | 175 | 0.0057 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTTTCT others(5): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0078 | 1 | 175 | 0.0057 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTTTTT others(5): Show |
intron_variant | MODIFIER | HG01943.hp1 HG03209.hp2 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0080a0002c0002t0106 | a0002c0002t0004g0192 a0002c0002t0080g0301 a0002c0002t0106g0297 |
3 | 177 | 0.0169 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | NA18522.hp1 NA19004.hp2 NA19012.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0050a0002c0002t0004a0002c0002t0006others(2): Show | a0001c0001t0050g0269 a0002c0002t0004g0259 a0002c0002t0006g0272 others(2): Show |
5 | 179 | 0.0279 | 12 | c.-39 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134403983 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0119 |
2 | 123 | 0.0163 | 12 | c.-28 others(31): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134404027 | A | ATATTTAT others(5): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0224 | 1 | 315 | 0.0032 | 12 | c.-28 others(31): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70855050 | T | TCATATAC others(5): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(85): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0049 others(84): Show |
88 | 126 | 0.6984 | 12 | c.*66 others(23): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1628 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70879480 | G | GATTCATT others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01884.hp1 HG02486.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0108others(4): Show | a0001c0001t0002g0066 a0001c0001t0002g0122 a0001c0001t0002g0152 others(13): Show |
16 | 253 | 0.0632 | 12 | c.736 others(31): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70880079 | C | CGTGGGGG others(5): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0062 | a0001c0003t0062g0106 | 1 | 314 | 0.0032 | 12 | c.736 others(31): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar |