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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAL3ST2_chr2_241771822_241809287 | 241805964 | C | CCACAGGC others(4): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 314 | 0.0032 | 11 | c.*17 others(22): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1678 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805964 | C | CCGCAGGC others(4): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135a0002c0002t0001g0149 | 2 | 314 | 0.0064 | 11 | c.*17 others(22): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1678 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805965 | C | CGCAGGCC others(4): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01517.hp1 HG03098.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0013a0001c0001t0001g0033a0001c0001t0001g0062others(2): Show | 5 | 314 | 0.0159 | 11 | c.*17 others(22): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1679 | chr2 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATACACAT others(4): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0052 | 1 | 348 | 0.0029 | 11 | c.267 others(28): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATACAT others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065a0001c0001t0002g0071 | 2 | 348 | 0.0058 | 11 | c.267 others(28): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49277137 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0015 | 1 | 348 | 0.0029 | 11 | c.505 others(28): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49299735 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02486.hp1 NA18957.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0146a0001c0002t0004g0181a0001c0002t0004g0191others(2): Show | 5 | 348 | 0.0144 | 11 | c.967 others(28): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49324400 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(177): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(36): Show | a0001c0001t0001g0010a0001c0001t0001g0250a0001c0001t0001g0251others(176): Show | 180 | 348 | 0.5172 | 11 | c.117 others(30): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703092 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19002.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0146a0002c0002t0001g0295 | 2 | 328 | 0.0061 | 11 | c.634 others(30): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703092 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01168.hp2 NA18945.hp1 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0062a0001c0001t0001g0142a0001c0001t0007g0061 | 3 | 328 | 0.0092 | 11 | c.634 others(30): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703093 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02083.hp2 HG02129.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0071a0001c0001t0001g0085a0001c0001t0001g0191others(1): Show | 4 | 328 | 0.0122 | 11 | c.634 others(30): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
GALNS_chr16_88808734_88861947 | 88813162 | T | TCCAGGGC others(4): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 404 | 0.0025 | 11 | c.*12 others(22): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 571 | chr16 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154288443 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 236 | 0.0042 | 11 | c.160 others(28): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154393057 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02630.hp1 |
a0001 | a0001c0005a0001c0013 | a0001c0005t0005a0001c0013t0001 | a0001c0005t0005g0060a0001c0013t0001g0187 | 2 | 236 | 0.0085 | 11 | c.105 others(30): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT11_chr7_152020674_152127340 | 152113712 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0178 | 1 | 284 | 0.0035 | 11 | c.123 others(28): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01168.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(7): Show | a0001c0001t0002g0107a0001c0001t0002g0130a0001c0001t0002g0131others(9): Show | 12 | 214 | 0.0561 | 11 | c.142 others(30): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154089675 | C | CAGCTGTG others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0072a0001c0001t0073 | a0001c0001t0072g0080a0001c0001t0073g0081 | 2 | 214 | 0.0094 | 11 | c.143 others(30): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154225133 | T | TAGATAGA others(4): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 214 | 0.0047 | 11 | c.312 others(30): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154225160 | T | TGATAGAT others(4): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0006 | 1 | 214 | 0.0047 | 11 | c.312 others(30): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154298539 | T | TTTATATA others(4): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0043 | a0001c0001t0023g0033a0001c0001t0043g0213 | 2 | 214 | 0.0094 | 11 | c.976 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154338334 | C | CTTTCATT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019 | a0001c0001t0008g0043a0001c0001t0019g0076 | 2 | 214 | 0.0094 | 11 | c.115 others(32): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154351682 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02698.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0135a0001c0001t0013g0167 | 2 | 214 | 0.0094 | 11 | c.115 others(32): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154394077 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02698.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0005g0125a0001c0001t0006g0112a0001c0001t0013g0151others(2): Show | 5 | 214 | 0.0234 | 11 | c.115 others(30): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154422645 | G | GTGTTTAT others(4): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0191 | 1 | 214 | 0.0047 | 11 | c.139 others(32): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT14_chr2_30905467_31143440 | 30917076 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01361.hp2 HG01515.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0002t0001g0031a0002c0003t0001g0043a0002c0003t0001g0054others(6): Show | 9 | 226 | 0.0398 | 11 | c.138 others(30): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 13/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31038084 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 226 | 0.0044 | 11 | c.130 others(30): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31038085 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02717.hp1 HG03516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0061others(3): Show | 6 | 226 | 0.0266 | 11 | c.130 others(30): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16232465 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0357 | 1 | 388 | 0.0026 | 11 | c.*49 others(22): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2301 | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16232518 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 388 | 0.0026 | 11 | c.*50 others(22): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2354 | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0035 | a0003c0035t0010 | a0003c0035t0010g0054 | 1 | 388 | 0.0026 | 11 | c.*55 others(22): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69356554 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0016 | a0001c0016t0006 | a0001c0016t0006g0156 | 1 | 306 | 0.0033 | 11 | c.*43 others(22): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2089 | chr14 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69356829 | T | TCCAACAG others(4): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0140 | 1 | 306 | 0.0033 | 11 | c.*46 others(22): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2364 | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71265118 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0067 | 1 | 76 | 0.0132 | 11 | c.239 others(30): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71265118 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01346.hp2 NA20129.hp1 |
a0001a0002 | a0001c0007a0002c0010 | a0001c0007t0020a0002c0010t0003 | a0001c0007t0020g0005a0002c0010t0003g0009 | 2 | 76 | 0.0263 | 11 | c.239 others(30): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71265118 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0035a0001c0001t0009g0063 | 2 | 76 | 0.0263 | 11 | c.239 others(30): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71377343 | T | TGATCAGT others(4): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0037others(51): Show | 54 | 76 | 0.7105 | 11 | c.423 others(30): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71449108 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0013 | a0001c0001t0004g0035a0001c0001t0012g0008a0001c0001t0012g0014others(1): Show | 4 | 76 | 0.0526 | 11 | c.962 others(30): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71647229 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0072 | 1 | 76 | 0.0132 | 11 | c.108 others(32): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71718051 | T | TTATTATT others(4): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 76 | 0.0132 | 11 | c.*59 others(22): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 4453 | chr7 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11269277 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG03139.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0255a0001c0004t0001g0231 | 2 | 260 | 0.0077 | 11 | c.*18 others(22): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1599 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11284908 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 260 | 0.0039 | 11 | c.167 others(30): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 10/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11419619 | A | AAAAAAAG others(4): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 260 | 0.0039 | 11 | c.595 others(30): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11479242 | T | TGAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 260 | 0.0039 | 11 | c.236 others(30): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11497371 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 260 | 0.0039 | 11 | c.236 others(30): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11578330 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03130.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0012a0001c0003t0005 | a0001c0001t0002g0041a0001c0002t0012g0006a0001c0003t0005g0005 | 3 | 260 | 0.0115 | 11 | c.235 others(30): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230252843 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03516.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0008a0001c0012t0025 | a0001c0001t0001g0269a0001c0001t0008g0305a0001c0012t0025g0207 | 3 | 324 | 0.0093 | 11 | c.100 others(30): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT3_chr2_165742588_165799247 | 165767869 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18970.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0123 | 2 | 386 | 0.0052 | 11 | c.515 others(28): Show |
GALNT3 | ENSG00000115339.14 | transcript | ENST00000392701.8 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256547 | T | TAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 NA19011.hp2 NA19065.hp2 others(1): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0018a0003c0004t0043a0003c0004t0074others(1): Show | a0003c0004t0018g0219a0003c0004t0043g0226a0003c0004t0074g0220others(1): Show | 4 | 282 | 0.0142 | 11 | c.-15 others(22): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1157 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0078 | a0001c0002t0078g0247 | 1 | 282 | 0.0036 | 11 | c.-15 others(22): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 282 | 0.0036 | 11 | c.-15 others(22): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar |