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 | 179488634 | C | CTTTTCTT others(13): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0024 | 1 | 356 | 0.0028 | 20 | c.209 others(39): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320815 | C | CTACAACC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(173): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(52): Show | a0001c0001t0001g0072a0001c0001t0001g0087a0001c0001t0001g0189others(171): Show | 176 | 378 | 0.4656 | 20 | c.879 others(37): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320817 | A | ACAACCTC others(13): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307a0001c0001t0001g0310 | 2 | 378 | 0.0053 | 20 | c.879 others(37): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65554068 | A | ACCTTCAG others(13): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02922.hp1 |
a0001 | a0001c0005a0001c0010 | a0001c0005t0001a0001c0010t0001 | a0001c0005t0001g0257a0001c0010t0001g0258 | 2 | 402 | 0.0050 | 20 | c.815 others(37): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2/10 | chr17 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0057 | a0001c0001t0034g0034a0001c0001t0034g0110a0001c0001t0057g0013 | 3 | 314 | 0.0096 | 20 | c.*40 others(29): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AZIN2_chr1_33076153_33128492 | 33077365 | C | CAATTCAA others(13): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 20 | c.-43 others(31): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 3787 | chr1 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 836288 | C | CAGAGAGA others(13): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(46): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0002t0001g0003others(12): Show | 49 | 391 | 0.1253 | 20 | c.*44 others(31): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4271 | chr19 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167548689 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0004 | 1 | 118 | 0.0085 | 20 | c.-41 others(41): 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(13): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 118 | 0.0085 | 20 | c.-40 others(41): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167662102 | G | GCTGCTTT others(13): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0063 | 1 | 118 | 0.0085 | 20 | c.-35 others(41): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT5_chr21_39607940_39678137 | 39636297 | A | ATCACAAC others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0147 | 1 | 336 | 0.0030 | 20 | c.-39 others(41): 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(13): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0001 | 2 | 336 | 0.0060 | 20 | c.-39 others(39): 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(13): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0061 | 1 | 336 | 0.0030 | 20 | c.-39 others(39): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639391 | C | CTTCCTTC others(13): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0069 | 1 | 336 | 0.0030 | 20 | c.-39 others(39): 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(13): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 336 | 0.0030 | 20 | c.-39 others(39): 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(13): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 336 | 0.0030 | 20 | c.-39 others(39): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GAT1_chr11_134373508_134417242 | 134412106 | G | GGGGGAGC others(13): Show |
5_prime_UTR_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0338 | 1 | 352 | 0.0028 | 20 | c.-60 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/6 | 24448 | chr11 | TogoVar | |||||
B3GAT1_chr11_134373508_134417242 | 134412108 | G | GGGAGCGG others(13): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(241): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(230): Show | 244 | 352 | 0.6932 | 20 | c.-58 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/6 | 24450 | chr11 | TogoVar | |||||
B3GAT1_chr11_134373508_134417242 | 134412108 | G | GGGAGCGG others(13): Show |
5_prime_UTR_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0027 | 1 | 352 | 0.0028 | 20 | c.-58 others(29): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/6 | 24450 | chr11 | TogoVar | |||||
B3GAT2_chr6_70851679_70962060 | 70879480 | G | GATTCATT others(13): Show |
intron_variant | MODIFIER | NA18951.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0092 | a0001c0001t0004g0052a0001c0002t0092g0265 | 2 | 316 | 0.0063 | 20 | c.736 others(39): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
B3GAT2_chr6_70851679_70962060 | 70902617 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18981.hp2 NA19012.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0029a0001c0002t0090 | a0001c0002t0022g0266a0001c0002t0022g0269a0001c0002t0029g0300others(1): Show | 4 | 316 | 0.0127 | 20 | c.592 others(37): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(13): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0056 | 1 | 268 | 0.0037 | 20 | c.-38 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 268 | 0.0037 | 20 | c.-38 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0159a0001c0001t0006g0147 | 2 | 268 | 0.0075 | 20 | c.-38 others(31): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31213608 | A | ACCCCCCC others(13): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0127 | 1 | 268 | 0.0037 | 20 | c.71- others(35): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31316405 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 268 | 0.0037 | 20 | c.106 others(39): 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(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 NA18950.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0084a0001c0001t0001g0089others(6): Show | 9 | 268 | 0.0336 | 20 | c.106 others(39): 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(13): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02630.hp1 HG02647.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0243a0002c0002t0003g0248a0002c0002t0003g0255 | 3 | 268 | 0.0112 | 20 | c.106 others(39): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17807111 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp2 others(50): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0199a0001c0001t0002g0014a0001c0001t0002g0050others(43): Show | 53 | 406 | 0.1305 | 20 | c.-50 others(35): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT4_chr12_122198709_122213952 | 122211077 | T | TAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 412 | 0.0024 | 20 | c.*36 others(31): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 2126 | chr12 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183269230 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02027.hp1 HG02071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0040a0001c0001t0001g0075others(6): Show | 12 | 390 | 0.0308 | 20 | c.-30 others(37): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 82940219 | G | GCACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 NA19064.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0227a0001c0002t0002g0110 | 2 | 266 | 0.0075 | 20 | c.*38 others(31): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1929 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCACACAC others(13): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0099a0001c0002t0008g0123 | 2 | 266 | 0.0075 | 20 | c.*38 others(31): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82940221 | G | GCGCACAC others(13): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 NA19062.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0008a0001c0008t0021 | a0001c0002t0008g0069a0001c0008t0021g0213 | 2 | 266 | 0.0075 | 20 | c.*38 others(31): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1927 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82946569 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(64): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(20): Show | a0001c0001t0002g0058a0001c0001t0002g0064a0001c0001t0002g0133others(64): Show | 67 | 266 | 0.2519 | 20 | c.*24 others(35): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 12/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83045806 | C | CATTTATT others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02886.hp1 HG03225.hp2 others(4): Show |
a0001a0004 | a0001c0011a0004c0017 | a0001c0011t0001a0001c0011t0010a0001c0011t0017others(2): Show | a0001c0011t0001g0144a0001c0011t0010g0146a0001c0011t0010g0147others(4): Show | 7 | 266 | 0.0263 | 20 | c.232 others(37): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83051272 | C | CGGGGGCG others(13): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0006 | 1 | 266 | 0.0038 | 20 | c.15+ others(33): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 525086 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0091a0001c0001t0096 | a0001c0001t0091g0232a0001c0001t0096g0003 | 2 | 394 | 0.0051 | 20 | c.170 others(39): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 546225 | A | AGGAGGGG others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0190 | 1 | 394 | 0.0025 | 20 | c.640 others(35): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 546230 | G | GGGAGTGG others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0022 | a0001c0001t0002g0294a0001c0001t0016g0179a0001c0001t0022g0036others(1): Show | 4 | 394 | 0.0102 | 20 | c.640 others(35): 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(13): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18967.hp1 NA18971.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0375a0001c0001t0003g0092a0001c0001t0003g0093others(5): Show | 8 | 394 | 0.0203 | 20 | c.707 others(35): 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(13): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03195.hp1 |
a0007 | a0007c0008 | a0007c0008t0007a0007c0008t0027 | a0007c0008t0007g0287a0007c0008t0027g0142 | 2 | 394 | 0.0051 | 20 | c.120 others(37): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALT1_chr9_33105642_33172336 | 33157063 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01975.hp1 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0196a0001c0001t0002g0269a0001c0001t0002g0279others(8): Show | 11 | 366 | 0.0301 | 20 | c.412 others(37): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33157121 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0053a0001c0001t0011g0026 | 2 | 366 | 0.0055 | 20 | c.412 others(37): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
B4GALT5_chr20_49627945_49718878 | 49636907 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0204 | 1 | 364 | 0.0028 | 20 | c.101 others(37): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 8/8 | chr20 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31688247 | G | GTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0221a0001c0001t0008g0222 | 2 | 306 | 0.0065 | 20 | c.-38 others(31): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 3667 | chr18 | TogoVar | ||||||
B4GALT6_chr18_31617246_31689581 | 31688258 | T | TACATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01243.hp2 HG01257.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0234a0001c0001t0001g0241a0001c0001t0002g0228others(34): Show | 38 | 306 | 0.1242 | 20 | c.-38 others(31): Show |
B4GALT6 | ENSG00000118276.12 | transcript | ENST00000306851.10 | protein_coding | 3678 | chr18 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28040294 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0072 | 2 | 158 | 0.0127 | 20 | c.496 others(37): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28112083 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02145.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074a0001c0001t0001g0081a0001c0001t0001g0153others(2): Show | 5 | 158 | 0.0317 | 20 | c.571 others(39): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BABAM2_chr2_27885729_28343901 | 28112185 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 158 | 0.0063 | 20 | c.571 others(39): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |