| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AXDND1_chr1_179360971_179559735 | 179419634 | A | AGGGAGAT others(4): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0172 | 1 | 356 | 0.0028 | 11 | c.123 others(30): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AXIN1_chr16_282440_357723 | 285937 | C | CCCCGCGG others(4): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 NA18978.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0003t0011 | a0001c0001t0009g0375a0001c0003t0011g0061 | 2 | 378 | 0.0053 | 11 | c.*21 others(22): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1502 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 285943 | C | CCCCGCGG others(4): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02647.hp2 others(7): Show |
a0001a0004a0011 | a0001c0007a0001c0009a0001c0016others(3): Show | a0001c0007t0008a0001c0009t0014a0001c0016t0008others(3): Show | a0001c0007t0008g0039a0001c0007t0008g0040a0001c0007t0008g0042others(7): Show | 10 | 378 | 0.0265 | 11 | c.*21 others(22): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1496 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 285949 | C | CCCCGCGG others(4): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01981.hp1 |
a0001 | a0001c0009a0001c0029 | a0001c0009t0038a0001c0029t0001 | a0001c0009t0038g0275a0001c0029t0001g0127 | 2 | 378 | 0.0053 | 11 | c.*21 others(22): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1490 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 286209 | T | TCCCCCCC others(4): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01981.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0002t0001others(3): Show | a0001c0001t0001g0351a0001c0001t0001g0357a0001c0001t0018g0037others(8): Show | 11 | 378 | 0.0291 | 11 | c.*19 others(22): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1230 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 286212 | C | CCCCCACC others(4): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0057 | 1 | 378 | 0.0027 | 11 | c.*19 others(22): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1227 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 287123 | T | TGTCACCC others(4): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 378 | 0.0027 | 11 | c.*98 others(20): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 316 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 320743 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 NA18950.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004 | a0001c0003t0003g0210a0001c0003t0003g0214a0001c0003t0004g0200others(3): Show | 6 | 378 | 0.0159 | 11 | c.879 others(28): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 320743 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 NA18970.hp1 NA18979.hp1 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0003a0001c0003t0004a0001c0009t0038 | a0001c0003t0003g0212a0001c0003t0004g0211a0001c0009t0038g0275 | 3 | 378 | 0.0079 | 11 | c.879 others(28): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 320743 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03579.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328a0001c0001t0001g0330a0001c0001t0001g0358 | 3 | 378 | 0.0079 | 11 | c.879 others(28): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 320743 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0060 | 1 | 378 | 0.0027 | 11 | c.879 others(28): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| AXIN2_chr17_65523563_65566648 | 65538667 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0245 | 1 | 402 | 0.0025 | 11 | c.106 others(28): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
| AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0015 | 1 | 314 | 0.0032 | 11 | c.*41 others(20): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 432 | 0.0023 | 11 | c.338 others(26): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
| AZIN2_chr1_33076153_33128492 | 33108342 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0053a0001c0001t0007g0090a0001c0001t0007g0091others(2): Show | 5 | 322 | 0.0155 | 11 | c.103 others(30): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AZU1_chr19_822837_837018 | 823446 | A | AAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 391 | 0.0026 | 11 | c.-44 others(22): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4390 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 823446 | A | AAACAAAC others(4): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0045 | 1 | 391 | 0.0026 | 11 | c.-44 others(22): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4390 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 823450 | A | AAAAAAAC others(4): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00642.hp2 others(43): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0002t0001g0003a0001c0002t0001g0006a0001c0002t0001g0008others(16): Show | 46 | 391 | 0.1177 | 11 | c.-43 others(22): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4386 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 823450 | A | AAACAAAC others(4): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG02257.hp1 others(35): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0003t0001a0001c0004t0001 | a0001c0002t0002g0008a0001c0002t0002g0016a0001c0003t0001g0002others(14): Show | 38 | 391 | 0.0972 | 11 | c.-43 others(22): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4386 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 830347 | G | GTTTTCAA others(4): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 391 | 0.0026 | 11 | c.361 others(26): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| B3GALNT2_chr1_235442190_235509452 | 235498843 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02683.hp1 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0079a0001c0001t0002g0080a0001c0001t0002g0081others(3): Show | 6 | 344 | 0.0174 | 11 | c.113 others(28): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
| B3GALNT2_chr1_235442190_235509452 | 235509023 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 NA18953.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0022 | a0001c0001t0002g0064a0001c0001t0004g0233a0001c0001t0022g0255 | 3 | 344 | 0.0087 | 11 | c.-47 others(22): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4572 | chr1 | TogoVar | ||||||
| B3GALNT2_chr1_235442190_235509452 | 235509023 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0041 | a0001c0001t0021g0230a0001c0001t0041g0229 | 2 | 344 | 0.0058 | 11 | c.-47 others(22): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4572 | chr1 | TogoVar | ||||||
| B3GALT1_chr2_167288001_167879045 | 167825283 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02257.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0025a0001c0001t0035 | a0001c0001t0022g0047a0001c0001t0025g0004a0001c0001t0035g0041 | 3 | 118 | 0.0254 | 11 | c.-23 others(30): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCCCCC others(4): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 11 | c.-12 others(22): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | ||||||
| B3GALT4_chr6_33272123_33283825 | 33276463 | A | ATAAGTCT others(4): Show |
upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 363 | 0.0028 | 11 | c.-95 others(20): Show |
B3GALT4 | ENSG00000235863.4 | transcript | ENST00000451237.3 | protein_coding | 659 | chr6 | TogoVar | ||||||
| B3GALT5_chr21_39607940_39678137 | 39623237 | C | CCTTCCTT others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0187 | 1 | 336 | 0.0030 | 11 | c.-39 others(32): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| B3GALT5_chr21_39607940_39678137 | 39639288 | C | CTCTTCTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0112 | a0002c0002t0112g0026 | 1 | 336 | 0.0030 | 11 | c.-39 others(30): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| B3GALT5_chr21_39607940_39678137 | 39639350 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0052 | 1 | 336 | 0.0030 | 11 | c.-39 others(30): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31196205 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0161 | 1 | 268 | 0.0037 | 11 | c.-38 others(22): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3769 | chr13 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0012 | a0001c0001t0001g0175a0002c0002t0012g0176 | 2 | 268 | 0.0075 | 11 | c.-38 others(22): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31213616 | A | ACCCCCCA others(4): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 268 | 0.0037 | 11 | c.71- others(26): 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(4): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 268 | 0.0037 | 11 | c.71- others(26): 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(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0200a0001c0001t0005g0206a0001c0001t0006g0197 | 3 | 268 | 0.0112 | 11 | c.71- others(26): 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(4): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01169.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0003c0004t0004 | a0001c0001t0005g0045a0003c0004t0004g0209 | 2 | 268 | 0.0075 | 11 | c.71- others(26): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| B3GLCT_chr13_31194975_31337276 | 31308335 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02129.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0108a0001c0001t0004g0038a0001c0001t0004g0053others(4): Show | 7 | 268 | 0.0261 | 11 | c.106 others(30): 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(4): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 268 | 0.0037 | 11 | c.106 others(30): 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(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(56): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0162a0001c0001t0002g0208a0001c0001t0002g0214others(51): Show | 59 | 406 | 0.1453 | 11 | c.-32 others(22): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3171 | chr19 | TogoVar | ||||||
| B3GNT3_chr19_17790138_17818576 | 17792577 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 406 | 0.0025 | 11 | c.-26 others(22): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2560 | chr19 | TogoVar | ||||||
| B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03225.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0125a0001c0001t0009g0274 | 2 | 406 | 0.0049 | 11 | c.-50 others(28): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| B3GNT3_chr19_17790138_17818576 | 17811688 | C | CTGGCACC others(4): Show |
frameshift_variant | HIGH | NA18955.hp2 | a0006 | a0006c0010 | a0006c0010t0006 | a0006c0010t0006g0161 | 1 | 406 | 0.0025 | 11 | c.685 others(18): Show |
p.Pro others(5): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3/3 | 805/2692 | 686/1119 | 229/372 | chr19 | TogoVar | ||
| B3GNT5_chr3_183248253_183278385 | 183257958 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0194a0001c0001t0001g0211others(3): Show | 7 | 390 | 0.0180 | 11 | c.-30 others(30): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| B3GNT5_chr3_183248253_183278385 | 183269230 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 390 | 0.0026 | 11 | c.-30 others(28): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| B3GNT8_chr19_41420359_41432374 | 41429824 | G | GATTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 420 | 0.0024 | 11 | c.-25 others(22): Show |
B3GNT8 | ENSG00000177191.3 | transcript | ENST00000691102.1 | protein_coding | 2451 | chr19 | TogoVar | ||||||
| B4GALNT1_chr12_57618409_57638201 | 57634082 | A | ACCCCCCC others(4): Show |
upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 11 | c.-13 others(22): Show |
B4GALNT1 | ENSG00000135454.14 | transcript | ENST00000341156.9 | protein_coding | 882 | chr12 | TogoVar | ||||||
| B4GALNT2_chr17_49127769_49181840 | 49173964 | A | AATAGGTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00741.hp2 others(44): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0010a0001c0001t0056a0001c0001t0057others(9): Show | a0001c0001t0010g0012a0001c0001t0010g0231a0001c0001t0010g0244others(40): Show | 47 | 380 | 0.1237 | 11 | c.*42 others(22): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 11/11 | 4239 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
| B4GALNT3_chr12_454939_568509 | 474947 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02451.hp2 HG02683.hp2 others(5): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0015others(5): Show | a0001c0001t0004g0214a0001c0001t0011g0218a0001c0001t0015g0224others(5): Show | 8 | 394 | 0.0203 | 11 | c.169 others(30): 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(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(45): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0015a0001c0001t0001g0115a0001c0001t0001g0248others(45): Show | 48 | 394 | 0.1218 | 11 | c.170 others(30): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 511346 | A | ACCTTCCA others(4): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19012.hp1 NA19085.hp2 |
a0010 | a0010c0011 | a0010c0011t0005a0010c0011t0018 | a0010c0011t0005g0169a0010c0011t0018g0009a0010c0011t0018g0165 | 3 | 394 | 0.0076 | 11 | c.170 others(30): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 525115 | T | TTTATTTA others(4): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0249 | 1 | 394 | 0.0025 | 11 | c.170 others(30): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |