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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALK2_chr15_49165247_49336882 | 49171082 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02273.hp2 others(28): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0011a0001c0002t0052others(1): Show | a0001c0002t0004g0170 a0001c0002t0004g0171 a0001c0002t0004g0172 others(28): Show |
31 | 348 | 0.0891 | -7 | c.53+ others(20): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49249041 | TAAGTTAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0003others(1): Show | a0001c0001t0002g0148 a0001c0001t0009g0147 a0001c0002t0003g0133 others(29): Show |
32 | 348 | 0.0920 | -7 | c.504 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49326255 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG01243.hp2 HG01496.hp1 others(36): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0011a0001c0002t0017others(6): Show | a0001c0002t0004g0170 a0001c0002t0004g0171 a0001c0002t0004g0172 others(35): Show |
39 | 348 | 0.1121 | -7 | c.117 others(26): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38685708 | ATTTTTAT | A | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp2 HG01261.hp1 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0001g0272 a0002c0002t0001g0186 a0002c0002t0001g0201 others(74): Show |
77 | 328 | 0.2348 | -7 | c.553 others(24): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNS_chr16_88808734_88861947 | 88821172 | TCCAGAGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(159): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0011a0001c0018others(18): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(24): Show | a0001c0002t0001g0030 a0001c0002t0001g0070 a0001c0002t0001g0102 others(158): Show |
162 | 404 | 0.4010 | -7 | c.136 others(26): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154256346 | TGTTTTTG | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01257.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0188 a0001c0001t0002g0075 a0001c0001t0002g0081 others(40): Show |
43 | 236 | 0.1822 | -7 | c.160 others(26): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154290258 | ATTTTTTT | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0004others(7): Show | a0001c0001t0003g0032 a0001c0002t0001g0231 a0001c0002t0001g0232 others(9): Show |
12 | 236 | 0.0509 | -7 | c.160 others(24): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154327216 | AAAAAAAT | A | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0004a0001c0014 | a0001c0004t0008a0001c0004t0009a0001c0004t0038others(1): Show | a0001c0004t0008g0064 a0001c0004t0009g0025 a0001c0004t0038g0063 others(1): Show |
4 | 236 | 0.0170 | -7 | c.402 others(24): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT11_chr7_152020674_152127340 | 152039614 | ACAGTTGG | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01243.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0003 | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0014 others(18): Show |
22 | 284 | 0.0775 | -7 | c.-39 others(26): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 153899931 | ATATATTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01074.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012a0001c0001t0013others(15): Show | a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0012g0154 others(30): Show |
33 | 214 | 0.1542 | -7 | c.-17 others(25): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154043415 | TATATATA | T | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0064 a0001c0001t0022g0065 a0001c0001t0022g0066 |
3 | 214 | 0.0140 | -7 | c.143 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154044072 | AAAAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0106 others(32): Show |
35 | 214 | 0.1636 | -7 | c.143 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154078635 | TTTACATA | T | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019a0001c0001t0021others(6): Show | a0001c0001t0006g0109 a0001c0001t0019g0074 a0001c0001t0019g0076 others(9): Show |
12 | 214 | 0.0561 | -7 | c.143 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154282641 | ACAGAATG | A | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0146 a0001c0001t0005g0101 a0001c0001t0009g0126 others(2): Show |
5 | 214 | 0.0234 | -7 | c.976 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154351682 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG02451.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0002g0129 a0001c0001t0006g0137 a0001c0001t0007g0207 others(9): Show |
12 | 214 | 0.0561 | -7 | c.115 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154449426 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0052others(2): Show | a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0029 others(4): Show |
7 | 214 | 0.0327 | -7 | c.153 others(24): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31046622 | GGAAACTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp2 others(93): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(93): Show |
96 | 226 | 0.4248 | -7 | c.130 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31048545 | AATAAGAC | A | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02145.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0002t0003a0003c0007t0001 | a0001c0001t0001g0021 a0001c0001t0001g0117 a0001c0001t0001g0123 others(3): Show |
6 | 226 | 0.0266 | -7 | c.130 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31124925 | GCCACAAA | G | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01256.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 others(16): Show |
19 | 226 | 0.0841 | -7 | c.129 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69296721 | AGATAGAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG00733.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0117 others(4): Show |
7 | 306 | 0.0229 | -7 | c.178 others(26): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69322926 | GTGTGTGT | G | intron_variant | MODIFIER | HG03927.hp2 HG06807.hp2 NA18966.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0180 a0001c0001t0001g0232 a0001c0001t0003g0079 others(2): Show |
5 | 306 | 0.0163 | -7 | c.336 others(24): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2/14 | chr14 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71233730 | ACCCACAG | A | intron_variant | MODIFIER | HG00735.hp1 HG01258.hp1 HG01261.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0045 others(12): Show |
15 | 76 | 0.1974 | -7 | c.238 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71256579 | TAAAAACC | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01261.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0034 a0001c0001t0002g0018 a0001c0001t0002g0024 others(9): Show |
12 | 76 | 0.1579 | -7 | c.239 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71360472 | ATCACTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG02451.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(1): Show | a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0006g0066 others(2): Show |
5 | 76 | 0.0658 | -7 | c.422 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71387226 | TTTTAATG | T | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0041 others(29): Show |
32 | 76 | 0.4211 | -7 | c.423 others(24): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71425674 | GCCTTTAC | G | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0002 a0001c0001t0013g0073 |
2 | 76 | 0.0263 | -7 | c.962 others(24): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71501012 | CAGGCTGG | C | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0009t0010 | a0001c0001t0001g0037 a0001c0001t0004g0048 a0001c0009t0010g0071 |
3 | 76 | 0.0395 | -7 | c.963 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71654688 | TCTTTAAC | T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 others(27): Show |
30 | 76 | 0.3947 | -7 | c.108 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71680609 | TCCCTCTC | T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0042 a0001c0001t0006g0056 a0001c0001t0006g0057 others(12): Show |
15 | 76 | 0.1974 | -7 | c.150 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71711689 | ATCTTCTC | A | intron_variant | MODIFIER | HG00323.hp2 HG01261.hp1 HG01346.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(10): Show | a0001c0001t0001g0045 a0001c0001t0004g0028 a0001c0001t0004g0029 others(19): Show |
22 | 76 | 0.2895 | -7 | c.166 others(24): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11270547 | TCCAGTGA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01255.hp1 HG01257.hp1 others(4): Show |
a0001 | a0001c0002a0001c0004a0001c0012 | a0001c0002t0006a0001c0002t0007a0001c0004t0006others(2): Show | a0001c0002t0006g0110 a0001c0002t0006g0148 a0001c0002t0007g0045 others(4): Show |
7 | 260 | 0.0269 | -7 | c.*59 others(16): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 329 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11284908 | GTTTTTTT | G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0178 a0001c0001t0001g0232 a0001c0001t0001g0258 others(3): Show |
6 | 260 | 0.0231 | -7 | c.167 others(26): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11293533 | CTTTTTTT | C | intron_variant | MODIFIER | HG00597.hp2 HG01255.hp1 HG01257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0007others(6): Show | a0001c0001t0001g0193 a0001c0002t0006g0148 a0001c0002t0007g0045 others(7): Show |
10 | 260 | 0.0385 | -7 | c.151 others(24): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11408364 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG02559.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0186 a0001c0001t0002g0069 a0001c0002t0001g0143 others(18): Show |
21 | 260 | 0.0808 | -7 | c.595 others(26): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
GALNT1_chr18_35576740_35716834 | 35663308 | GGACTCTA | G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0001 | a0001c0001t0013g0167 a0001c0001t0013g0169 a0001c0004t0001g0168 |
3 | 310 | 0.0097 | -7 | c.140 others(22): Show |
GALNT1 | ENSG00000141429.14 | transcript | ENST00000269195.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230094163 | ATTTTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0214 others(82): Show |
85 | 324 | 0.2624 | -7 | c.126 others(26): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230204162 | CTTTTTCT | C | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013a0001c0001t0021others(3): Show | a0001c0001t0008g0293 a0001c0001t0013g0016 a0001c0001t0013g0017 others(7): Show |
10 | 324 | 0.0309 | -7 | c.374 others(22): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256568 | AAATATAT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG02683.hp1 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0041 a0001c0001t0002g0003 a0001c0001t0002g0114 others(3): Show |
7 | 282 | 0.0248 | -7 | c.-15 others(18): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1136 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157256570 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG01168.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0093a0001c0002t0031 | a0001c0001t0002g0003 a0001c0001t0093g0243 a0001c0002t0031g0015 |
4 | 282 | 0.0142 | -7 | c.-15 others(18): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1134 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157290083 | AAATGTAT | A | intron_variant | MODIFIER | HG00621.hp2 HG02027.hp1 NA18948.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0008 a0001c0001t0002g0046 a0001c0001t0002g0104 others(5): Show |
8 | 282 | 0.0284 | -7 | c.174 others(26): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT7_chr4_173163811_173328967 | 173167583 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0060 a0001c0001t0001g0087 others(4): Show |
7 | 266 | 0.0263 | -7 | c.-12 others(18): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1227 | chr4 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132224547 | ACCCACAC | A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0014a0001c0015others(2): Show | a0001c0001t0001a0001c0014t0003a0001c0015t0001others(2): Show | a0001c0001t0001g0150 a0001c0014t0003g0074 a0001c0014t0003g0146 others(4): Show |
7 | 183 | 0.0383 | -7 | c.107 others(28): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNTL5_chr7_151951446_152024929 | 151980737 | ATTTTTTT | A | intron_variant | MODIFIER | HG01981.hp1 HG02738.hp2 HG03710.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0206 others(3): Show |
6 | 384 | 0.0156 | -7 | c.369 others(24): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 171982292 | TTTGTTTG | T | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0002g0008 others(4): Show |
7 | 40 | 0.1750 | -7 | c.138 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172015923 | ATTTTTTT | A | intron_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0002g0025 others(1): Show |
4 | 40 | 0.1000 | -7 | c.138 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172308003 | CTTTTTTT | C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0002g0026 others(2): Show |
5 | 40 | 0.1250 | -7 | c.248 others(24): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172466903 | ATTTGCAT | A | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007 | a0001c0001t0002g0009 a0001c0001t0006g0020 a0001c0001t0007g0006 |
3 | 40 | 0.0750 | -7 | c.553 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172776890 | AATTATAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0007g0006 a0001c0001t0011g0031 a0001c0002t0001g0016 others(1): Show |
4 | 40 | 0.1000 | -7 | c.554 others(26): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77258904 | GGGCGGTA | G | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00738.hp2 others(26): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0121 a0001c0001t0003g0258 a0001c0001t0005g0302 others(25): Show |
29 | 366 | 0.0792 | -7 | c.732 others(24): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259096 | GTGGTGGA | G | intron_variant | MODIFIER | NA18944.hp2 NA18959.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0114a0001c0002t0024 | a0001c0001t0114g0057 a0001c0002t0024g0007 a0001c0002t0024g0023 |
4 | 366 | 0.0109 | -7 | c.732 others(24): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |