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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AXDND1_chr1_179360971_179559735 | 179455868 | G | GTTTGTTT others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03209.hp1 |
a0003a0009 | a0003c0004a0009c0013 | a0003c0004t0001a0009c0013t0001 | a0003c0004t0001g0183 a0009c0013t0001g0097 a0009c0013t0001g0098 |
3 | 338 | 0.0089 | 10 | c.179 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179500337 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02080.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0003t0001g0066 others(5): Show |
8 | 114 | 0.0702 | 10 | c.238 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179525808 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0279 | 1 | 240 | 0.0042 | 10 | c.261 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320743 | A | ATATTTTT others(3): Show |
intron_variant | MODIFIER | HG00741.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0311 a0001c0003t0003g0047 |
2 | 109 | 0.0183 | 10 | c.879 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 320743 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02109.hp2 others(4): Show |
a0001a0008 | a0001c0003a0008c0020 | a0001c0003t0003a0001c0003t0004a0001c0003t0026others(3): Show | a0001c0003t0003g0050 a0001c0003t0003g0185 a0001c0003t0004g0264 others(4): Show |
7 | 114 | 0.0614 | 10 | c.879 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 323776 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0074 | 1 | 221 | 0.0045 | 10 | c.879 others(27): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 326394 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0058 | 1 | 355 | 0.0028 | 10 | c.879 others(29): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65538667 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02071.hp1 NA18973.hp1 others(3): Show |
a0001a0002a0004 | a0001c0003a0001c0005a0002c0012others(1): Show | a0001c0003t0001a0001c0005t0001a0002c0012t0001others(1): Show | a0001c0003t0001g0048 a0001c0005t0001g0038 a0002c0012t0001g0152 others(1): Show |
6 | 22 | 0.2727 | 10 | c.106 others(27): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65561704 | C | CCCCGCCC others(3): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0156 | 1 | 400 | 0.0025 | 10 | c.-37 others(19): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 57 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65564088 | T | TCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 NA18969.hp2 NA19085.hp2 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0021a0002c0001t0002 | a0001c0004t0021g0296 a0002c0001t0002g0149 a0002c0001t0002g0154 |
3 | 112 | 0.0268 | 10 | c.-27 others(21): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41230147 | G | GTCTGTTT others(3): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0104 | 1 | 312 | 0.0032 | 10 | c.587 others(25): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41256080 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01346.hp2 HG01981.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0020a0001c0001t0048others(3): Show | a0001c0001t0014g0064 a0001c0001t0014g0097 a0001c0001t0020g0190 others(9): Show |
12 | 238 | 0.0504 | 10 | c.203 others(27): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0030 | a0001c0001t0019g0029 a0001c0001t0019g0105 a0001c0001t0019g0106 others(5): Show |
8 | 55 | 0.1455 | 10 | c.*41 others(19): 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(3): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02027.hp2 HG02071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0035 others(2): Show |
16 | 33 | 0.4848 | 10 | c.338 others(25): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
AZGP1_chr7_99961730_99981031 | 99977146 | T | TGGCCAAC others(3): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 430 | 0.0023 | 10 | c.-11 others(21): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 1116 | chr7 | TogoVar | |||||||
AZI2_chr3_28316047_28353824 | 28352126 | G | GCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0040 |
2 | 115 | 0.0174 | 10 | c.-35 others(21): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 3303 | chr3 | TogoVar | |||||||
AZIN2_chr1_33076153_33128492 | 33108342 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02723.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0007a0001c0001t0009a0005c0005t0009 | a0001c0001t0007g0052 a0001c0001t0009g0221 a0005c0005t0009g0022 others(1): Show |
5 | 191 | 0.0262 | 10 | c.103 others(29): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AZIN2_chr1_33076153_33128492 | 33125733 | C | CCCTTTCC others(3): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 297 | 0.0034 | 10 | c.*55 others(21): Show |
AZIN2 | ENSG00000142920.18 | transcript | ENST00000294517.11 | protein_coding | 2242 | chr1 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 823445 | A | AAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01928.hp1 HG01934.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 7 | 390 | 0.0179 | 10 | c.-44 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4391 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 823446 | A | AAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 347 | 0.0029 | 10 | c.-44 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4390 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 823450 | A | AAAAAACA others(3): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00741.hp1 others(18): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0002t0001g0004 a0001c0003t0001g0002 a0001c0003t0001g0008 others(5): Show |
21 | 230 | 0.0913 | 10 | c.-43 others(21): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4386 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 829936 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0008 a0001c0003t0001g0020 a0001c0003t0001g0030 others(4): Show |
11 | 156 | 0.0705 | 10 | c.360 others(25): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
B3GALNT2_chr1_235442190_235509452 | 235474950 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 247 | 0.0040 | 10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474987 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 135 | 0.0074 | 10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474987 | A | ATATATTT others(3): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 135 | 0.0074 | 10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474987 | A | ATATTTTT others(3): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 135 | 0.0074 | 10 | c.652 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01496.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0009a0001c0001t0019others(1): Show | a0001c0001t0002g0015 a0001c0001t0002g0064 a0001c0001t0002g0065 others(11): Show |
14 | 38 | 0.3684 | 10 | c.113 others(27): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235509010 | C | CATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01952.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012 | a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0040 others(11): Show |
14 | 316 | 0.0443 | 10 | c.-47 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4559 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235509023 | A | ATATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp2 others(50): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(48): Show |
53 | 272 | 0.1949 | 10 | c.-47 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4572 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235509023 | A | ATATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 HG02155.hp2 HG02559.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(3): Show | a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0041 others(14): Show |
17 | 236 | 0.0720 | 10 | c.-47 others(21): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 4572 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167303682 | C | CACACAGA others(3): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0055 | 1 | 26 | 0.0385 | 10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167387012 | C | CATCATAT others(3): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03225.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0079 a0001c0001t0002g0018 a0001c0001t0011g0092 |
3 | 107 | 0.0280 | 10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167400166 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02132.hp1 HG02647.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0002g0070 others(8): Show |
11 | 28 | 0.3929 | 10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167454210 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0018 a0001c0001t0028g0072 |
2 | 98 | 0.0204 | 10 | c.-51 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167512570 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 113 | 0.0088 | 10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167521982 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | NA18968.hp2 NA19007.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0076 a0001c0001t0004g0014 a0001c0001t0020g0063 |
3 | 55 | 0.0545 | 10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167521984 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0027 a0001c0001t0015g0026 |
2 | 37 | 0.0541 | 10 | c.-41 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167548685 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0003 a0001c0001t0035g0025 |
2 | 34 | 0.0588 | 10 | c.-41 others(31): 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(3): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0033 | a0001c0001t0010g0107 a0001c0001t0033g0033 |
2 | 33 | 0.0606 | 10 | 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 | 167625985 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 113 | 0.0088 | 10 | 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 | 167776040 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0038a0001c0003t0041 | a0001c0001t0038g0109 a0001c0003t0041g0115 |
2 | 20 | 0.1000 | 10 | c.-35 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167803081 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01106.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0001t0002g0052 others(17): Show |
20 | 35 | 0.5714 | 10 | c.-35 others(31): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167825283 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 68 | 0.0147 | 10 | c.-23 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167870716 | T | TTTTTTCT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0109 | 1 | 116 | 0.0086 | 10 | c.*70 others(19): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 5/5 | 712 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167876007 | A | ATATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0107 | 1 | 116 | 0.0086 | 10 | c.*59 others(21): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1963 | chr2 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167876021 | A | ATATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0004 | 1 | 113 | 0.0088 | 10 | c.*60 others(21): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1977 | chr2 | TogoVar | |||||||
B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCCCCC others(3): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG02004.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0043 others(1): Show |
17 | 150 | 0.1133 | 10 | c.-12 others(21): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39639348 | T | TTCTTTCT others(3): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0110 | 1 | 334 | 0.0030 | 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 | 39639354 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0040 | a0002c0002t0040g0283 | 1 | 331 | 0.0030 | 10 | c.-39 others(29): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
B3GALT5_chr21_39607940_39678137 | 39639387 | C | CTTCTTTC others(3): Show |
intron_variant | MODIFIER | HG02965.hp1 NA20805.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0119 | a0001c0001t0005g0145 a0002c0002t0119g0118 |
2 | 317 | 0.0063 | 10 | c.-39 others(29): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |