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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GAT1_chr11_134373508_134417242 | 134404027 | A | ATATTTAT others(5): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0249 | 1 | 352 | 0.0028 | 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 | a0001c0001t0001g0046a0001c0001t0001g0048a0001c0001t0001g0062others(85): Show | 88 | 316 | 0.2785 | 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 | a0001c0001t0002g0065a0001c0001t0002g0120a0001c0001t0002g0144others(13): Show | 16 | 316 | 0.0506 | 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 | a0001c0003t0062g0105 | 1 | 316 | 0.0032 | 12 | c.736 others(31): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70891748 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0094 | 1 | 316 | 0.0032 | 12 | c.736 others(29): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70902633 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 316 | 0.0032 | 12 | c.592 others(29): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GAT3_chr11_62610296_62626986 | 62618243 | G | GGTTTGAA others(5): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 290 | 0.0035 | 12 | c.258 others(27): Show |
B3GAT3 | ENSG00000149541.10 | transcript | ENST00000265471.10 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0174 | 1 | 268 | 0.0037 | 12 | c.-38 others(23): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31213616 | A | ACCCCCCC others(5): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 268 | 0.0037 | 12 | c.71- others(27): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31213616 | A | ACCCCCCC others(5): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0126 | 1 | 268 | 0.0037 | 12 | c.71- others(27): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31308334 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01071.hp2 others(23): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0118a0001c0001t0001g0124a0001c0001t0001g0217others(23): Show | 26 | 268 | 0.0970 | 12 | c.106 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31308362 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0076a0001c0001t0001g0117others(9): Show | 12 | 268 | 0.0448 | 12 | c.106 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31308362 | A | AAACAAAA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0266 | 1 | 268 | 0.0037 | 12 | c.106 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0068 | 1 | 268 | 0.0037 | 12 | c.106 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTTTATAT others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01516.hp1 HG02080.hp1 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0008 | a0002c0002t0002g0017a0002c0002t0002g0116a0002c0002t0002g0139others(13): Show | 16 | 268 | 0.0597 | 12 | c.106 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17791966 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG02055.hp1 others(3): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0010 | a0001c0001t0006a0001c0001t0009a0003c0004t0011others(1): Show | a0001c0001t0006g0031a0001c0001t0006g0157a0001c0001t0009g0032others(3): Show | 6 | 406 | 0.0148 | 12 | c.-32 others(23): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3171 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17807111 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01928.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0283a0001c0001t0003g0185a0001c0001t0005g0250others(11): Show | 15 | 406 | 0.0370 | 12 | c.-50 others(27): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0227a0001c0001t0001g0237 | 3 | 390 | 0.0077 | 12 | c.-30 others(31): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNT6_chr11_77029398_77046973 | 77031780 | C | CTTATTTA others(5): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0020 | 1 | 442 | 0.0023 | 12 | c.-26 others(23): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 2617 | chr11 | TogoVar | ||||||
B3GNT8_chr19_41420359_41432374 | 41425549 | A | AGGCCAGG others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0026 | 1 | 420 | 0.0024 | 12 | c.*35 others(19): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 35 | chr19 | TogoVar | |||||
B3GNT8_chr19_41420359_41432374 | 41425549 | A | AGGCCAGG others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(240): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0032others(19): Show | 243 | 420 | 0.5786 | 12 | c.*35 others(19): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 35 | chr19 | TogoVar | |||||
B3GNT8_chr19_41420359_41432374 | 41425551 | G | GCCAGGGC others(5): Show |
3_prime_UTR_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0024 | 1 | 420 | 0.0024 | 12 | c.*33 others(19): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2/2 | 33 | chr19 | TogoVar | |||||
B3GNT8_chr19_41420359_41432374 | 41427477 | A | AGGAGAGA others(5): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 | 2 | 420 | 0.0048 | 12 | c.-23 others(21): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 104 | chr19 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82940219 | G | GCACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01361.hp2 HG02015.hp2 others(9): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0002g0064a0001c0001t0002g0154a0001c0001t0002g0160others(9): Show | 12 | 266 | 0.0451 | 12 | c.*38 others(23): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1929 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 HG03669.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(1): Show | a0001c0001t0002g0158a0001c0001t0004g0237a0001c0001t0022g0230others(1): Show | 4 | 266 | 0.0150 | 12 | c.*38 others(23): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82946569 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0017a0001c0001t0032a0001c0002t0016others(10): Show | a0001c0001t0017g0177a0001c0001t0032g0162a0001c0002t0016g0134others(36): Show | 40 | 266 | 0.1504 | 12 | c.*24 others(27): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 12/12 | chr17 | TogoVar | ||||||
B4GALNT1_chr12_57618409_57638201 | 57634082 | A | ACCCCCCC others(5): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 406 | 0.0025 | 12 | c.-13 others(23): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 882 | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 456435 | C | CAGATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0004 | a0001c0001t0084a0001c0010t0002a0003c0004t0005 | a0001c0001t0084g0162a0001c0010t0002g0256a0003c0004t0005g0172others(1): Show | 4 | 394 | 0.0102 | 12 | c.-39 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3503 | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 474947 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG03540.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0044a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0055a0001c0044t0001others(6): Show | a0001c0001t0001g0223a0001c0001t0055g0181a0001c0044t0001g0383others(6): Show | 9 | 394 | 0.0228 | 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 | 500865 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(21): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(19): Show | a0001c0001t0001g0089a0001c0001t0001g0110a0001c0001t0001g0112others(21): Show | 24 | 394 | 0.0609 | 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 | 525086 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp2 others(59): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0041others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0008a0001c0001t0001g0116a0001c0001t0001g0164others(59): Show | 62 | 394 | 0.1574 | 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 | 525086 | T | TTTTGTTT others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0004 | a0003c0004t0080 | a0003c0004t0080g0201 | 1 | 394 | 0.0025 | 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 | 552292 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03516.hp1 |
a0007 | a0007c0008 | a0007c0008t0002a0007c0008t0017 | a0007c0008t0002g0004a0007c0008t0017g0147 | 2 | 394 | 0.0051 | 12 | c.120 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 369061 | G | GCCCCCAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0003a0001c0005others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0027others(175): Show | 180 | 184 | 0.9783 | 12 | c.-74 others(21): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 437 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 371617 | C | CTCAAATC others(5): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0020 | 1 | 184 | 0.0054 | 12 | c.152 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 373310 | T | TGGTGTCG others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0096 | 1 | 184 | 0.0054 | 12 | c.636 others(25): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374757 | A | AGGAGGAA others(5): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0038 | a0004c0038t0001 | a0004c0038t0001g0021 | 1 | 184 | 0.0054 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374851 | A | AGGAGGAA others(5): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02148.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0142a0002c0002t0006g0153 | 2 | 184 | 0.0109 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374870 | A | AGGAGGAA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0071 | 1 | 184 | 0.0054 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374933 | G | GAGGGGAG others(5): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0033 | 1 | 184 | 0.0054 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374952 | G | GGAGGGAG others(5): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0033 | 1 | 184 | 0.0054 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375010 | A | AGGAGGAA others(5): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03225.hp2 |
a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0043a0006c0010t0001g0044 | 2 | 184 | 0.0109 | 12 | c.784 others(27): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33135890 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0155 | 1 | 366 | 0.0027 | 12 | c.413 others(27): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33135905 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 366 | 0.0027 | 12 | c.413 others(27): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG01175.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0169a0001c0001t0002g0212a0001c0001t0002g0275others(22): Show | 25 | 366 | 0.0683 | 12 | c.412 others(29): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157121 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01070.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0169a0001c0001t0002g0284a0001c0001t0003g0319others(4): Show | 8 | 366 | 0.0219 | 12 | c.412 others(29): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43979173 | C | CCGCGGGG others(5): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 NA18992.hp2 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0099 | 4 | 406 | 0.0099 | 12 | c.-39 others(21): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 36 | chr1 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43991785 | G | GTGTGTTT others(5): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 406 | 0.0025 | 12 | c.*13 others(23): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 618 | chr1 | TogoVar | ||||||
B4GALT2_chr1_43974210_43996168 | 43994422 | G | GTTTCTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01074.hp1 others(37): Show |
a0000a0001a0002 | a0000c0007a0001c0001a0002c0002others(1): Show | a0000c0007t0003a0001c0001t0001a0001c0001t0002others(2): Show | a0000c0007t0003g0008a0001c0001t0001g0010a0001c0001t0001g0060others(15): Show | 40 | 406 | 0.0985 | 12 | c.*39 others(23): Show |
B4GALT2 | ENSG00000117411.18 | transcript | ENST00000372324.6 | protein_coding | 3255 | chr1 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49636907 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00621.hp2 others(24): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0010a0001c0002t0013others(4): Show | a0001c0002t0001g0256a0001c0002t0001g0294a0001c0002t0001g0297others(24): Show | 27 | 364 | 0.0742 | 12 | c.101 others(29): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 8/8 | chr20 | TogoVar |