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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GALT5_chr21_39607940_39678137 | 39639400 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0118 | a0002c0002t0118g0303 | 1 | 175 | 0.0057 | 10 | c.-39 others(29): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639462 | T | TTTTTTCT others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0019 | 1 | 314 | 0.0032 | 10 | c.-39 others(29): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39670211 | C | CTGTGTGT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02965.hp1 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0040a0002c0002t0119 | a0002c0002t0040g0039 a0002c0002t0040g0283 a0002c0002t0119g0118 |
3 | 239 | 0.0126 | 10 | c.*87 others(21): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 4/4 | 8745 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GALT6_chr1_1227237_1240041 | 1239125 | C | CCTACATG others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0018others(7): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0002t0018g0000 others(7): Show |
55 | 364 | 0.1511 | 10 | c.*58 others(21): Show |
B3GALT6 | ENSG00000176022.7 | transcript | ENST00000379198.5 | protein_coding | 4085 | chr1 | TogoVar | |||||||
B3GALT9_chr9_120788467_120806787 | 120794506 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 27 | 0.0370 | 10 | c.-18 others(27): Show |
B3GALT9 | ENSG00000214654.9 | transcript | ENST00000689072.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134390410 | T | TCTTCTCA others(3): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 350 | 0.0029 | 10 | c.-28 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134397397 | T | TCTCCTGT others(3): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG02145.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0031 a0001c0001t0002g0296 a0001c0001t0002g0297 others(13): Show |
17 | 350 | 0.0486 | 10 | c.-28 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134403983 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0028 a0001c0001t0027g0034 |
2 | 123 | 0.0163 | 10 | c.-28 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134404027 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0200 | 1 | 315 | 0.0032 | 10 | c.-28 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT1_chr11_134373508_134417242 | 134404027 | A | ATTTATTT others(3): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0073 | 1 | 315 | 0.0032 | 10 | c.-28 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70858287 | C | CTTTTTTT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0004 | 1 | 108 | 0.0093 | 10 | c.*33 others(21): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 4/4 | 3375 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70902617 | G | GATATATA others(3): Show |
intron_variant | MODIFIER | NA18964.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0066 | a0001c0001t0050g0022 a0001c0001t0066g0143 |
2 | 108 | 0.0185 | 10 | c.592 others(27): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GAT2_chr6_70851679_70962060 | 70913290 | G | GGGTGTTT others(3): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0021 | 1 | 314 | 0.0032 | 10 | c.592 others(29): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31208170 | C | CCGGGTCT others(3): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0085 | 1 | 266 | 0.0038 | 10 | c.71- others(25): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31213608 | A | ACCCCCCC others(3): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0261 | 1 | 263 | 0.0038 | 10 | c.71- others(25): 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(3): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18952.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0122 a0001c0001t0004g0001 |
3 | 236 | 0.0127 | 10 | c.71- others(25): 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(3): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0141 | 1 | 234 | 0.0043 | 10 | c.71- others(25): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31213621 | A | ACCCCACC others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0070 | 1 | 46 | 0.0217 | 10 | c.71- others(25): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31213623 | C | CCCCCCCC others(3): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0196 | 1 | 263 | 0.0038 | 10 | c.71- others(25): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31213624 | C | CCCCCCCC others(3): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01106.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0004g0171 others(7): Show |
10 | 260 | 0.0385 | 10 | c.71- others(25): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31253618 | A | AAAAAACA others(3): Show |
intron_variant | MODIFIER | HG02300.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0235 |
2 | 137 | 0.0146 | 10 | c.459 others(27): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0186 | 1 | 58 | 0.0172 | 10 | c.106 others(29): 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(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG01261.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0013a0002c0002t0019others(1): Show | a0002c0002t0003g0004 a0002c0002t0003g0092 a0002c0002t0003g0236 others(6): Show |
10 | 67 | 0.1493 | 10 | c.106 others(29): 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(3): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG02109.hp1 HG02258.hp2 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0036others(2): Show | a0001c0001t0002g0051 a0001c0001t0006g0176 a0001c0001t0036g0050 others(3): Show |
6 | 180 | 0.0333 | 10 | c.-32 others(21): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3171 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17792577 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0031others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0273 a0001c0001t0002g0275 others(3): Show |
7 | 319 | 0.0219 | 10 | c.-26 others(21): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2560 | chr19 | TogoVar | |||||||
B3GNT3_chr19_17790138_17818576 | 17807111 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02970.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0002a0001c0001t0031a0006c0007t0003 | a0001c0001t0002g0221 a0001c0001t0002g0273 a0001c0001t0002g0276 others(2): Show |
5 | 94 | 0.0532 | 10 | c.-50 others(25): 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(3): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0187 a0001c0001t0001g0204 others(1): Show |
6 | 17 | 0.3529 | 10 | c.-30 others(29): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B3GNT8_chr19_41420359_41432374 | 41429825 | G | GTTTCTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0020 | 1 | 175 | 0.0057 | 10 | c.-25 others(21): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2452 | chr19 | TogoVar | |||||||
B3GNT8_chr19_41420359_41432374 | 41430470 | G | GGCTGGTA others(3): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 418 | 0.0024 | 10 | c.-32 others(21): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 3097 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82940219 | G | GCACACAC others(3): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02698.hp2 HG02896.hp2 others(8): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0037others(5): Show | a0001c0001t0002g0153 a0001c0001t0004g0258 a0001c0001t0037g0257 others(8): Show |
11 | 119 | 0.0924 | 10 | c.*38 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1929 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCACACAC others(3): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0197 | 1 | 62 | 0.0161 | 10 | c.*38 others(21): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82946569 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01943.hp1 others(2): Show |
a0002 | a0002c0005a0002c0010 | a0002c0005t0003a0002c0010t0007 | a0002c0005t0003g0163 a0002c0010t0007g0005 a0002c0010t0007g0209 others(1): Show |
5 | 79 | 0.0633 | 10 | c.*24 others(25): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 12/12 | chr17 | TogoVar | |||||||
B4GALNT1_chr12_57618409_57638201 | 57632692 | G | GCGCCTCC others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02615.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0015 | a0002c0002t0007g0010 a0002c0002t0015g0024 |
8 | 404 | 0.0198 | 10 | c.-2+ others(21): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
B4GALNT1_chr12_57618409_57638201 | 57634082 | A | ACCCCCCC others(3): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 1 | 104 | 0.0096 | 10 | c.-13 others(21): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 882 | chr12 | TogoVar | |||||||
B4GALNT2_chr17_49127769_49181840 | 49147966 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19240.hp2 |
a0002a0009 | a0002c0006a0009c0017 | a0002c0006t0021a0009c0017t0035 | a0002c0006t0021g0099 a0009c0017t0035g0262 |
2 | 234 | 0.0085 | 10 | c.354 others(27): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 474947 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0003 | a0002c0003t0041 | a0002c0003t0041g0221 | 1 | 131 | 0.0076 | 10 | c.169 others(29): 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(3): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01993.hp2 HG02273.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0002a0001c0001t0011a0001c0001t0060others(2): Show | a0001c0001t0002g0054 a0001c0001t0011g0370 a0001c0001t0060g0080 others(2): Show |
5 | 25 | 0.2000 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511438 | C | CCTTCCAC others(3): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0113 | 1 | 364 | 0.0027 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511583 | C | CCTTCGAC others(3): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 392 | 0.0026 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511597 | C | CCTTCCAC others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(53): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0096 others(53): Show |
56 | 392 | 0.1429 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511729 | T | TCGACCTT others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02145.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0013a0002c0003others(5): Show | a0001c0002t0013a0001c0013t0002a0002c0003t0090others(6): Show | a0001c0002t0013g0175 a0001c0013t0002g0177 a0002c0003t0090g0145 others(8): Show |
11 | 350 | 0.0314 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511768 | C | CCTTCCAC others(3): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 380 | 0.0026 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511874 | C | CCTTCCAC others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0044others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(18): Show | a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0006g0062 others(21): Show |
24 | 392 | 0.0612 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512039 | T | TTCCACCT others(3): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18954.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0003 | a0001c0001t0001g0015 a0005c0006t0003g0238 |
2 | 389 | 0.0051 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 512180 | C | CCTTCCAC others(3): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0007 | a0007c0008 | a0007c0008t0017 | a0007c0008t0017g0178 | 1 | 392 | 0.0026 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 512194 | C | CCTTCCAC others(3): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0269 a0001c0001t0002g0052 |
2 | 392 | 0.0051 | 10 | c.170 others(29): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545651 | T | TGGGGAGG others(3): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0022 | a0001c0001t0016g0179 a0001c0001t0022g0036 a0001c0001t0022g0037 |
3 | 392 | 0.0077 | 10 | c.639 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 547155 | C | CGGGCGTT others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(150): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0010a0001c0013others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(98): Show | a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0096 others(150): Show |
153 | 383 | 0.3995 | 10 | c.707 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 552292 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19074.hp2 |
a0001a0007 | a0001c0002a0007c0008 | a0001c0002t0005a0007c0008t0027 | a0001c0002t0005g0364 a0007c0008t0027g0144 |
2 | 72 | 0.0278 | 10 | c.120 others(27): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 369999 | C | CGGGGGGC others(3): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0133 | 1 | 164 | 0.0061 | 10 | c.151 others(23): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |