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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT13_chr2_153866922_154458979 | 153884785 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103 | 1 | 214 | 0.0047 | 22 | c.-17 others(43): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269904 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0184 a0001c0001t0026g0185 |
2 | 214 | 0.0094 | 22 | c.975 others(41): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154298517 | A | ATTATATA others(15): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0032g0077 |
3 | 214 | 0.0140 | 22 | c.976 others(39): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30977092 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG02970.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0013 | a0001c0001t0001a0001c0014t0003a0002c0013t0001 | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0014t0003g0178 others(1): Show |
4 | 226 | 0.0177 | 22 | c.300 others(41): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 30989560 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 226 | 0.0044 | 22 | c.299 others(39): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31027886 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02717.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0018 a0001c0001t0001g0077 a0001c0001t0001g0080 others(4): Show |
7 | 226 | 0.0310 | 22 | c.130 others(41): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31027918 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0197 | 1 | 226 | 0.0044 | 22 | c.130 others(41): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31038065 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 226 | 0.0044 | 22 | c.130 others(41): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16215916 | A | AACAAAAA others(15): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18942.hp1 NA18988.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0136 a0002c0003t0001g0139 a0002c0003t0001g0140 others(1): Show |
4 | 388 | 0.0103 | 22 | c.139 others(41): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16232465 | A | AATATATA others(15): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0036 | 1 | 388 | 0.0026 | 22 | c.*49 others(33): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2301 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16232469 | A | AATAAATA others(15): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0016 | a0001c0016t0014 | a0001c0016t0014g0015 | 1 | 388 | 0.0026 | 22 | c.*49 others(33): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2305 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16233092 | A | AACTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0313 | 1 | 388 | 0.0026 | 22 | c.*55 others(33): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2928 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00738.hp2 others(54): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0043others(13): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(23): Show | a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0075 others(50): Show |
57 | 388 | 0.1469 | 22 | c.*55 others(33): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69264819 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0024 | 1 | 306 | 0.0033 | 22 | c.177 others(39): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69345703 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00738.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0072 a0001c0001t0001g0126 a0001c0001t0001g0217 others(16): Show |
19 | 306 | 0.0621 | 22 | c.127 others(41): 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(15): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02818.hp2 HG03516.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0028a0001c0003t0002others(3): Show | a0001c0001t0002g0076 a0001c0001t0002g0278 a0001c0001t0028g0111 others(5): Show |
8 | 306 | 0.0261 | 22 | c.*43 others(33): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2089 | chr14 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71161978 | G | GCCCTTCC others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0015 a0001c0001t0018g0016 |
2 | 76 | 0.0263 | 22 | c.238 others(41): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71201239 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0049 | 1 | 76 | 0.0132 | 22 | c.238 others(41): 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(15): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0002g0021 a0001c0001t0005g0050 a0001c0002t0002g0020 others(1): Show |
4 | 76 | 0.0526 | 22 | c.238 others(41): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71231723 | G | GGAGGGAG others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 76 | 0.0132 | 22 | c.238 others(41): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71245848 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 76 | 0.0132 | 22 | c.239 others(41): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71377114 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 76 | 0.0132 | 22 | c.423 others(41): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71482081 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011 | a0001c0001t0003g0011 a0001c0001t0006g0064 a0001c0001t0006g0066 others(1): Show |
4 | 76 | 0.0526 | 22 | c.962 others(41): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11284908 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 260 | 0.0039 | 22 | c.167 others(41): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11358826 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 260 | 0.0039 | 22 | c.109 others(43): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11421742 | T | TCTCTGCA others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0236 |
2 | 260 | 0.0077 | 22 | c.595 others(41): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11497327 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0235 | 1 | 260 | 0.0039 | 22 | c.236 others(41): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
GALNT1_chr18_35576740_35716834 | 35608454 | G | GCCTTGGT others(15): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247 | 1 | 310 | 0.0032 | 22 | c.-10 others(43): Show |
GALNT1 | ENSG00000141429.14 | transcript | ENST00000269195.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230107610 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0053a0001c0003t0001 | a0001c0001t0053g0301 a0001c0003t0001g0186 a0001c0003t0001g0187 |
3 | 324 | 0.0093 | 22 | c.126 others(41): 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(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG01069.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0008a0001c0001t0015a0001c0003t0001others(5): Show | a0001c0001t0008g0298 a0001c0001t0015g0014 a0001c0003t0001g0037 others(15): Show |
18 | 324 | 0.0556 | 22 | c.375 others(41): 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(15): Show |
upstream_gene_variant | MODIFIER | NA19091.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0227 | 1 | 282 | 0.0036 | 22 | c.-15 others(33): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0065 | a0002c0003t0065g0186 | 1 | 282 | 0.0036 | 22 | c.-15 others(33): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02895.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0091a0001c0002t0092a0001c0002t0096 | a0001c0002t0091g0240 a0001c0002t0092g0245 a0001c0002t0096g0239 |
3 | 282 | 0.0106 | 22 | c.174 others(41): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT7_chr4_173163811_173328967 | 173216727 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 266 | 0.0038 | 22 | c.127 others(41): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNT7_chr4_173163811_173328967 | 173216727 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 266 | 0.0038 | 22 | c.127 others(41): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNT7_chr4_173163811_173328967 | 173288282 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 266 | 0.0038 | 22 | c.588 others(39): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNT8_chr12_4715400_4777726 | 4720408 | C | CCTGAGCA others(15): Show |
5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02896.hp2 HG02897.hp1 others(4): Show |
a0005a0021 | a0005c0005a0021c0019 | a0005c0005t0005a0005c0005t0006a0021c0019t0008 | a0005c0005t0005g0252 a0005c0005t0005g0271 a0005c0005t0005g0272 others(4): Show |
7 | 338 | 0.0207 | 22 | c.-24 others(31): Show |
GALNT8 | ENSG00000130035.9 | transcript | ENST00000252318.7 | protein_coding | 1/11 | 219 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172219199 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0002g0026 |
2 | 40 | 0.0500 | 22 | 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 | 172503526 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0004 | 1 | 40 | 0.0250 | 22 | c.553 others(43): 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(15): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 40 | 0.0250 | 22 | c.553 others(43): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77281061 | T | TTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0028 | a0001c0004t0028g0335 | 1 | 366 | 0.0027 | 22 | c.*12 others(35): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3162 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77281062 | A | AATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00609.hp2 others(36): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(25): Show | a0001c0001t0003g0259 a0001c0001t0003g0291 a0001c0001t0008g0019 others(34): Show |
39 | 366 | 0.1066 | 22 | c.*12 others(35): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3163 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77281090 | T | TATATATA others(15): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 NA19057.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0151 | a0001c0001t0011g0123 a0001c0001t0011g0306 a0001c0001t0151g0104 |
3 | 366 | 0.0082 | 22 | c.*12 others(35): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3191 | chr18 | TogoVar | |||||||
GALR2_chr17_76069781_76082537 | 76070850 | G | GCACATGC others(15): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 22 | c.-40 others(33): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 3930 | chr17 | TogoVar | |||||||
GALR2_chr17_76069781_76082537 | 76077966 | C | CGGGGGGG others(15): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG04115.hp2 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 3 | 405 | 0.0074 | 22 | c.*53 others(31): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 430 | chr17 | TogoVar | |||||||
GALT_chr9_34641675_34656035 | 34644352 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 416 | 0.0024 | 22 | c.-23 others(33): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2322 | chr9 | TogoVar | |||||||
GALT_chr9_34641675_34656035 | 34644352 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 416 | 0.0048 | 22 | c.-23 others(33): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2322 | chr9 | TogoVar | |||||||
GAP43_chr3_115618510_115726483 | 115641510 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 352 | 0.0028 | 22 | c.30+ others(39): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115661831 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0242 a0001c0001t0001g0346 a0001c0001t0002g0243 |
3 | 352 | 0.0085 | 22 | c.31- others(39): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32364026 | A | ATATATGT others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 NA18747.hp1 NA18982.hp2 others(2): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0007 | a0001c0002t0006a0001c0002t0016a0001c0008t0008others(1): Show | a0001c0002t0006g0066 a0001c0002t0016g0052 a0001c0008t0008g0019 others(2): Show |
5 | 192 | 0.0260 | 22 | c.262 others(41): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar |