regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GALT1_chr2_167288001_167879045 | 167396534 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 118 | 0.0085 | -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 | 167408015 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG01081.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0032a0001c0001t0001g0062a0001c0001t0001g0081others(38): Show | 41 | 118 | 0.3475 | -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 | 167435942 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0060 | 1 | 118 | 0.0085 | -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 | 167435971 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG03098.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0001t0020others(1): Show | a0001c0001t0001g0003a0001c0001t0015g0079a0001c0001t0020g0063others(1): Show | 4 | 118 | 0.0339 | -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 | 167454218 | CGCGCGTG others(5): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG02280.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0032others(1): Show | 4 | 118 | 0.0339 | -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 | 167512612 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0097a0001c0001t0003g0038a0001c0001t0003g0059others(6): Show | 9 | 118 | 0.0763 | -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 | 167625942 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0060 | 1 | 118 | 0.0085 | -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 | 167644779 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01106.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0043a0001c0001t0001g0062a0001c0001t0001g0076others(16): Show | 19 | 118 | 0.1610 | -12 | c.-40 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167676516 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0022others(1): Show | a0001c0001t0003g0027a0001c0001t0003g0038a0001c0001t0012g0075others(2): Show | 5 | 118 | 0.0424 | -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 | 167676544 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0025 | 1 | 118 | 0.0085 | -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 | 167739925 | TACAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0090 | 1 | 118 | 0.0085 | -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 | 167740098 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0037 | 1 | 118 | 0.0085 | -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 | 167774473 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0037 | a0001c0001t0002g0001a0001c0001t0037g0044 | 2 | 118 | 0.0170 | -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 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0101 | 1 | 118 | 0.0085 | -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 | 167799950 | GTATGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01496.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022a0001c0001t0027others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0001t0022g0047others(6): Show | 9 | 118 | 0.0763 | -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 | 167800109 | TTGAATGA others(5): Show |
T | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111 | 1 | 118 | 0.0085 | -12 | c.-35 others(33): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167803081 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024a0001c0001t0005g0101 | 2 | 118 | 0.0170 | -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 | 167875975 | ATATATAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0055 | 1 | 118 | 0.0085 | -12 | c.*59 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1931 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167876071 | ATATATAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03704.hp2 HG03831.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0017 | a0001c0001t0004g0087a0001c0001t0009g0031a0001c0001t0017g0088 | 3 | 118 | 0.0254 | -12 | c.*60 others(23): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2027 | chr2 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39623201 | TCCTCCCT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG01123.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(13): Show | a0001c0001t0002g0013a0001c0001t0005g0012a0001c0001t0005g0103others(15): Show | 18 | 336 | 0.0536 | -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 | 39623233 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02083.hp1 HG04184.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004a0002c0002t0006others(1): Show | a0001c0001t0001g0051a0002c0002t0004g0053a0002c0002t0006g0052others(1): Show | 4 | 336 | 0.0119 | -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 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0138a0001c0001t0005g0203 | 2 | 336 | 0.0060 | -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 | 39639396 | TTCTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 336 | 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 | 39639398 | CTTTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02056.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0038 | a0001c0001t0002g0060a0002c0002t0038g0088 | 2 | 336 | 0.0060 | -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 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02523.hp2 NA18948.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0018others(2): Show | a0001c0001t0001g0254a0001c0001t0001g0255a0001c0001t0001g0257others(6): Show | 9 | 336 | 0.0268 | -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 | 39647832 | GTCTTTGT others(5): Show |
G | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0121 | 1 | 336 | 0.0030 | -12 | c.-16 others(31): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
B3GALT6_chr1_1227237_1240041 | 1236857 | AGAGGAGG others(5): Show |
A | downstream_gene_variant | MODIFIER | NA18955.hp1 | a0006 | a0006c0012 | a0006c0012t0011 | a0006c0012t0011g0000 | 1 | 366 | 0.0027 | -12 | c.*35 others(23): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 1817 | chr1 | TogoVar | ||||||
B3GALT9_chr9_120788467_120806787 | 120794506 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02572.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0014a0002c0002t0027 | a0002c0002t0004g0025a0002c0002t0014g0032a0002c0002t0027g0060 | 5 | 404 | 0.0124 | -12 | c.-18 others(29): Show |
B3GALT9 | ENSG00000214654.9 | transcript | ENST00000689072.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
B3GALT9_chr9_120788467_120806787 | 120804731 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp2 NA18522.hp1 |
a0001a0009 | a0001c0001a0009c0006 | a0001c0001t0015a0009c0006t0001 | a0001c0001t0015g0052a0001c0001t0015g0058a0009c0006t0001g0006 | 3 | 404 | 0.0074 | -12 | c.*50 others(23): Show |
B3GALT9 | ENSG00000214654.9 | transcript | ENST00000689072.1 | protein_coding | 2945 | chr9 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134386034 | CAAGATAA others(5): Show |
C | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 352 | 0.0028 | -12 | c.112 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134403979 | TTCTTTAT others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 | 1 | 352 | 0.0028 | -12 | c.-28 others(31): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134403983 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG03017.hp1 HG03239.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0163a0001c0001t0006g0034a0001c0001t0006g0041others(5): Show | 8 | 352 | 0.0227 | -12 | c.-28 others(31): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134411670 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0056 | 1 | 352 | 0.0028 | -12 | c.-28 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70855050 | TCATATAC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02735.hp1 HG02738.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0034a0001c0001t0070a0001c0002t0008others(3): Show | a0001c0001t0034g0106a0001c0001t0070g0111a0001c0002t0008g0248others(3): Show | 6 | 316 | 0.0190 | -12 | c.*66 others(23): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1628 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70858287 | CTTTTTTT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0093 | 1 | 316 | 0.0032 | -12 | c.*33 others(23): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 4/4 | 3364 | chr6 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31212267 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02015.hp1 NA18997.hp1 NA19081.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0210a0002c0002t0009g0211a0002c0002t0009g0212 | 3 | 268 | 0.0112 | -12 | c.71- others(27): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GNT6_chr11_77029398_77046973 | 77032640 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00741.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0008g0002others(9): Show | 26 | 442 | 0.0588 | -12 | c.-18 others(23): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1757 | chr11 | TogoVar | ||||||
B3GNT6_chr11_77029398_77046973 | 77032668 | TATATATA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG01975.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0002g0063a0001c0001t0004g0004others(7): Show | 19 | 442 | 0.0430 | -12 | c.-18 others(23): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1729 | chr11 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83048015 | CCTCTCTT others(5): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0023 | a0003c0023t0011 | a0003c0023t0011g0019 | 1 | 266 | 0.0038 | -12 | c.232 others(27): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | ||||||
B4GALNT2_chr17_49127769_49181840 | 49136518 | GTTTATTT others(5): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(65): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0001g0096others(55): Show | 68 | 380 | 0.1790 | -12 | c.14+ others(27): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT2_chr17_49127769_49181840 | 49140052 | ATATAATA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0057 | a0001c0001t0051g0350a0001c0001t0057g0162 | 2 | 380 | 0.0053 | -12 | c.15- others(27): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 456435 | CAGATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(45): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0116a0001c0001t0001g0223a0001c0001t0001g0328others(45): Show | 48 | 394 | 0.1218 | -12 | c.-39 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3503 | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 471384 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0004 | a0003c0004t0020 | a0003c0004t0020g0189 | 1 | 394 | 0.0025 | -12 | c.169 others(31): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 474947 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0011 | a0011c0015 | a0011c0015t0092 | a0011c0015t0092g0234 | 1 | 394 | 0.0025 | -12 | c.169 others(31): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 496095 | TATGTGTC others(5): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0179 | 1 | 394 | 0.0025 | -12 | c.169 others(31): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511013 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01106.hp2 others(71): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015others(71): Show | 74 | 394 | 0.1878 | -12 | c.170 others(31): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 556353 | TACATTTT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01074.hp2 others(8): Show |
a0002a0012a0018others(1): Show | a0002c0003a0002c0034a0002c0036others(3): Show | a0002c0003t0004a0002c0003t0006a0002c0003t0032others(5): Show | a0002c0003t0004g0348a0002c0003t0006g0046a0002c0003t0006g0136others(8): Show | 11 | 394 | 0.0279 | -12 | c.206 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33154031 | AAGGGAGG others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01167.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0066a0001c0001t0067others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0055others(5): Show | 10 | 366 | 0.0273 | -12 | c.412 others(31): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157063 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0043a0001c0001t0061 | a0001c0001t0004g0010a0001c0001t0004g0157a0001c0001t0004g0158others(7): Show | 11 | 366 | 0.0301 | -12 | c.412 others(29): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43981976 | GCGTTTGT others(5): Show |
G | intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0076 | 1 | 406 | 0.0025 | -12 | c.549 others(25): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |