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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT14_chr2_30905467_31143440 | 31087481 | A | AGAGGAGA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(55): Show |
58 | 226 | 0.2566 | 20 | c.129 others(39): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16204785 | T | TGGGGAGA others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG02109.hp1 others(8): Show |
a0002a0003 | a0002c0003a0002c0010a0002c0013others(3): Show | a0002c0003t0001a0002c0010t0011a0002c0013t0005others(3): Show | a0002c0003t0001g0332 a0002c0010t0011g0062 a0002c0010t0011g0329 others(8): Show |
11 | 388 | 0.0284 | 20 | c.912 others(37): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16232465 | A | AATATATA others(13): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0345 | 1 | 388 | 0.0026 | 20 | c.*49 others(31): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2301 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16232469 | A | AATAAATA others(13): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0016 | a0001c0016t0014 | a0001c0016t0014g0015 | 1 | 388 | 0.0026 | 20 | c.*49 others(31): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2305 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16232469 | A | AATAAATA others(13): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0312 |
3 | 388 | 0.0077 | 20 | c.*49 others(31): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2305 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16232469 | A | AATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 a0001c0001t0002g0322 |
2 | 388 | 0.0052 | 20 | c.*49 others(31): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2305 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01261.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0010others(2): Show | a0001c0001t0004a0001c0002t0007a0002c0010t0011others(4): Show | a0001c0001t0004g0135 a0001c0001t0004g0298 a0001c0001t0004g0299 others(9): Show |
12 | 388 | 0.0309 | 20 | c.*55 others(31): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69264819 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01258.hp2 HG02074.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 others(3): Show |
6 | 306 | 0.0196 | 20 | c.177 others(37): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69342474 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(32): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0002g0090 others(32): Show |
35 | 306 | 0.1144 | 20 | c.127 others(37): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69345703 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01069.hp2 others(18): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0134 a0001c0001t0002g0112 others(18): Show |
21 | 306 | 0.0686 | 20 | c.127 others(39): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69356554 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01346.hp1 HG01517.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0078 a0001c0001t0002g0012 a0001c0001t0002g0091 others(18): Show |
21 | 306 | 0.0686 | 20 | c.*43 others(31): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2089 | chr14 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71156579 | G | GTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03139.hp1 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0031 a0001c0001t0002g0018 a0001c0001t0004g0028 others(3): Show |
6 | 76 | 0.0790 | 20 | c.238 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71162123 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0047 | 1 | 76 | 0.0132 | 20 | c.238 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71162148 | C | CCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0031 a0001c0001t0004g0028 a0001c0001t0004g0029 others(4): Show |
7 | 76 | 0.0921 | 20 | c.238 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71201235 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0072 | 1 | 76 | 0.0132 | 20 | c.238 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71201244 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG01261.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0037 a0001c0001t0002g0015 a0001c0001t0006g0064 others(3): Show |
6 | 76 | 0.0790 | 20 | c.238 others(39): 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(13): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 76 | 0.0132 | 20 | c.239 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71319096 | A | ATCTTTCT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0044 a0001c0001t0004g0035 |
2 | 76 | 0.0263 | 20 | c.239 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71321902 | C | CCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01261.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0045 a0001c0001t0003g0001 a0001c0001t0008g0022 others(5): Show |
8 | 76 | 0.1053 | 20 | c.239 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71482081 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01243.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0006a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0006g0056 a0001c0001t0011g0036 a0001c0001t0012g0012 others(2): Show |
5 | 76 | 0.0658 | 20 | c.962 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71592544 | A | AATAAAAT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00741.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0034 a0001c0001t0002g0018 a0001c0001t0003g0003 others(14): Show |
17 | 76 | 0.2237 | 20 | c.108 others(41): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71592563 | C | CTAAAATA others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01106.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0016a0001c0003t0002 | a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0016g0043 others(1): Show |
4 | 76 | 0.0526 | 20 | c.108 others(41): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71662318 | T | TTATCTAT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016 | a0001c0001t0006g0066 a0001c0001t0016g0043 |
2 | 76 | 0.0263 | 20 | c.108 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71675308 | A | AGTGCCAG others(13): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 76 | 0.0132 | 20 | c.140 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71679975 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03579.hp2 HG03669.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0021a0001c0007t0020 | a0001c0001t0003g0003 a0001c0001t0021g0010 a0001c0007t0020g0005 |
3 | 76 | 0.0395 | 20 | c.150 others(39): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11358826 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01516.hp2 HG01517.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0109 a0001c0002t0001g0164 a0001c0002t0002g0092 others(3): Show |
6 | 260 | 0.0231 | 20 | c.109 others(41): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
GALNT2_chr1_230062238_230287122 | 230069257 | G | GTTTGTTT others(13): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0252 a0001c0001t0008g0253 |
2 | 324 | 0.0062 | 20 | c.126 others(37): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230128257 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0244 a0001c0001t0009g0065 |
2 | 324 | 0.0062 | 20 | c.127 others(39): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230222031 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02622.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0009a0001c0003t0004a0001c0003t0018others(1): Show | a0001c0001t0009g0206 a0001c0003t0004g0259 a0001c0003t0018g0306 others(1): Show |
4 | 324 | 0.0124 | 20 | c.375 others(39): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0205 | 1 | 282 | 0.0036 | 20 | c.-15 others(31): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 NA19091.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0098a0003c0004t0002 | a0001c0002t0098g0244 a0003c0004t0002g0227 |
2 | 282 | 0.0071 | 20 | c.174 others(39): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT7_chr4_173163811_173328967 | 173182817 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0240 | 1 | 266 | 0.0038 | 20 | c.126 others(39): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL5_chr7_151951446_152024929 | 151990580 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 NA20300.hp2 |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0002a0007c0007t0003 | a0002c0002t0002g0168 a0007c0007t0003g0339 |
2 | 384 | 0.0052 | 20 | c.658 others(37): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 171923786 | C | CTCTGTGT others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0027 | 1 | 40 | 0.0250 | 20 | c.138 others(41): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 171942241 | G | GATAAATA others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02145.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 others(3): Show |
6 | 40 | 0.1500 | 20 | c.138 others(41): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 171942267 | T | TAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 40 | 0.0250 | 20 | c.138 others(41): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172058113 | G | GTTGTTTT others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 40 | 0.0250 | 20 | c.139 others(41): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172069582 | A | ATTATATA others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 40 | 0.0250 | 20 | c.139 others(41): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172131406 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0038 | 1 | 40 | 0.0250 | 20 | c.139 others(39): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172176337 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0017 a0001c0001t0002g0037 a0001c0001t0010g0021 |
3 | 40 | 0.0750 | 20 | c.139 others(39): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172219199 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033 a0001c0001t0002g0035 |
2 | 40 | 0.0500 | 20 | c.139 others(39): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172351183 | C | CTGTCTGT others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02145.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0033 others(4): Show |
7 | 40 | 0.1750 | 20 | c.553 others(37): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172426916 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 40 | 0.0250 | 20 | c.553 others(39): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172429175 | A | ATTATTTT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18906.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0003 a0001c0001t0002g0039 a0001c0003t0001g0005 |
3 | 40 | 0.0750 | 20 | c.553 others(39): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172487295 | C | CTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 40 | 0.0250 | 20 | c.553 others(41): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172503526 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 40 | 0.0250 | 20 | c.553 others(41): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172528952 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 40 | 0.0250 | 20 | c.553 others(41): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 173022090 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0035 |
2 | 40 | 0.0500 | 20 | c.163 others(37): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77281061 | T | TTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0152 | 1 | 366 | 0.0027 | 20 | c.*12 others(33): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3162 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77281062 | A | AATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01175.hp1 HG01261.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0073 a0001c0001t0003g0071 a0001c0001t0003g0294 others(11): Show |
15 | 366 | 0.0410 | 20 | c.*12 others(33): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3163 | chr18 | TogoVar |