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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT17_chr7_71127144_71718599 | 71592544 | A | AATAAAAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02280.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0005g0054 others(2): Show |
5 | 76 | 0.0658 | 15 | c.108 others(36): 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(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02976.hp2 HG04228.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007 | a0001c0001t0002g0019 a0001c0001t0006g0057 a0001c0001t0006g0064 others(1): Show |
4 | 76 | 0.0526 | 15 | c.108 others(36): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71647229 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03139.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0009a0001c0002t0019 | a0001c0001t0005g0052 a0001c0001t0009g0065 a0001c0002t0019g0017 |
3 | 76 | 0.0395 | 15 | c.108 others(36): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680566 | C | CCCTCCCT others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 76 | 0.0132 | 15 | c.150 others(34): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71718005 | G | GTTAATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0052 | 1 | 76 | 0.0132 | 15 | c.*58 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 4407 | chr7 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11497370 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 260 | 0.0039 | 15 | c.236 others(34): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
GALNT1_chr18_35576740_35716834 | 35597988 | A | ACTCCCCT others(8): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 |
3 | 310 | 0.0097 | 15 | c.-10 others(36): Show |
GALNT1 | ENSG00000141429.14 | transcript | ENST00000269195.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230069257 | G | GTTTGTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02717.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(5): Show | a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0008g0256 others(6): Show |
9 | 324 | 0.0278 | 15 | c.126 others(32): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230092176 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03831.hp1 HG04204.hp1 NA18967.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0044a0001c0003t0006a0002c0004t0002 | a0001c0001t0044g0127 a0001c0003t0006g0126 a0001c0003t0006g0232 others(2): Show |
5 | 324 | 0.0154 | 15 | c.126 others(34): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230092181 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01346.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0149 a0001c0001t0001g0308 a0001c0001t0003g0201 others(12): Show |
15 | 324 | 0.0463 | 15 | c.126 others(34): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230092184 | T | TTGTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01123.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0321 a0001c0001t0004g0121 a0001c0001t0005g0198 others(19): Show |
22 | 324 | 0.0679 | 15 | c.126 others(34): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230092185 | T | TGTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0026 a0001c0001t0001g0132 a0001c0001t0001g0134 others(103): Show |
106 | 324 | 0.3272 | 15 | c.126 others(34): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
GALNT2_chr1_230062238_230287122 | 230209357 | C | CCCTGATC others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(247): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(71): Show | a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0134 others(247): Show |
250 | 324 | 0.7716 | 15 | c.374 others(32): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256547 | T | TAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0214 | 1 | 282 | 0.0036 | 15 | c.-15 others(26): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1157 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 NA19058.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0014 a0003c0004t0001g0213 |
2 | 282 | 0.0071 | 15 | c.-15 others(26): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0229 | 1 | 282 | 0.0036 | 15 | c.-15 others(26): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0076 | 1 | 282 | 0.0036 | 15 | c.-15 others(26): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157257986 | T | TCTGCTGC others(8): Show |
5_prime_UTR_variant | MODIFIER | HG02970.hp1 HG03225.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0093a0001c0001t0094a0001c0001t0095others(3): Show | a0001c0001t0093g0243 a0001c0001t0094g0253 a0001c0001t0095g0238 others(3): Show |
6 | 282 | 0.0213 | 15 | c.-85 others(22): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1/10 | 70 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT7_chr4_173163811_173328967 | 173183043 | A | AACACACA others(8): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 266 | 0.0038 | 15 | c.126 others(34): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNT7_chr4_173163811_173328967 | 173225018 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0085 a0001c0001t0005g0086 |
2 | 266 | 0.0075 | 15 | c.127 others(34): 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(8): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0003 | a0001c0004t0001g0006 a0001c0005t0003g0098 |
2 | 266 | 0.0075 | 15 | c.588 others(32): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL5_chr7_151951446_152024929 | 151990580 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00733.hp1 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0040 a0001c0001t0001g0046 others(56): Show |
59 | 384 | 0.1537 | 15 | c.658 others(32): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172058113 | G | GTTGTTTT others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03130.hp2 NA18906.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0002g0003 others(2): Show |
5 | 40 | 0.1250 | 15 | c.139 others(36): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172138513 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 40 | 0.0250 | 15 | c.139 others(34): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172156547 | A | ATGTATAT others(8): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02258.hp2 HG02647.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0033 others(6): Show |
9 | 40 | 0.2250 | 15 | c.139 others(34): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172339257 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0038 | 1 | 40 | 0.0250 | 15 | c.387 others(32): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 4/12 | chr4 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 172379653 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0002g0026 a0001c0001t0002g0032 |
3 | 40 | 0.0750 | 15 | c.553 others(34): 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(8): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0034 others(3): Show |
6 | 40 | 0.1500 | 15 | c.553 others(34): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56174331 | A | ACTCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02886.hp1 NA19030.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0013 a0002c0003t0003g0292 |
3 | 444 | 0.0068 | 15 | c.-17 others(26): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1676 | chr19 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252890 | C | CCACCACC others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01517.hp2 HG01993.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0003g0087 others(4): Show |
7 | 366 | 0.0191 | 15 | c.666 others(32): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252899 | C | CCACCATC others(8): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0097 | 1 | 366 | 0.0027 | 15 | c.666 others(32): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252962 | C | CCACCACC others(8): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0003 | a0003c0005 | a0003c0005t0012 | a0003c0005t0012g0030 | 1 | 366 | 0.0027 | 15 | c.666 others(32): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252968 | C | CCACCACC others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG03098.hp2 |
a0001 | a0001c0004 | a0001c0004t0028a0001c0004t0048 | a0001c0004t0028g0320 a0001c0004t0028g0321 a0001c0004t0048g0322 |
3 | 366 | 0.0082 | 15 | c.666 others(32): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259308 | G | GTCATGGT others(8): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0200 | 1 | 366 | 0.0027 | 15 | c.732 others(32): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259309 | T | TCATGGTG others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03453.hp2 NA18986.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0004 | a0001c0002t0002g0205 a0001c0004t0004g0327 a0001c0004t0004g0328 |
3 | 366 | 0.0082 | 15 | c.732 others(32): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
GALR2_chr17_76069781_76082537 | 76070879 | C | CACACACA others(8): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 15 | c.-40 others(26): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 3901 | chr17 | TogoVar | |||||||
GALR2_chr17_76069781_76082537 | 76070880 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 NA19057.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 405 | 0.0074 | 15 | c.-40 others(26): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 3900 | chr17 | TogoVar | |||||||
GALR2_chr17_76069781_76082537 | 76077966 | C | CGGGGGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG04184.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0005 |
2 | 405 | 0.0049 | 15 | c.*53 others(24): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 430 | chr17 | TogoVar | |||||||
GAMT_chr19_1392026_1406542 | 1401794 | T | TCCTCATC others(8): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 15 | c.-31 others(24): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 253 | chr19 | TogoVar | |||||||
GANAB_chr11_62619829_62651613 | 62640228 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 308 | 0.0033 | 15 | c.39- others(28): Show |
GANAB | ENSG00000089597.18 | transcript | ENST00000356638.8 | protein_coding | 1/23 | chr11 | TogoVar | |||||||
GANC_chr15_42268201_42358666 | 42313955 | A | AAACAACA others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02293.hp2 NA20129.hp2 |
a0002a0013 | a0002c0002a0013c0016 | a0002c0002t0008a0013c0016t0005 | a0002c0002t0008g0080 a0013c0016t0005g0104 a0013c0016t0005g0105 |
3 | 262 | 0.0115 | 15 | c.105 others(34): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115661831 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01361.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0072 others(12): Show |
15 | 352 | 0.0426 | 15 | c.31- others(32): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115672732 | C | CCCTCTCC others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0043 others(99): Show |
102 | 352 | 0.2898 | 15 | c.31- others(30): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115698050 | T | TAATATAT others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02071.hp2 HG02293.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0066 a0001c0001t0001g0067 others(18): Show |
21 | 352 | 0.0597 | 15 | c.628 others(34): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
GAPVD1_chr9_125256826_125372207 | 125293854 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 | 1 | 340 | 0.0029 | 15 | c.-14 others(34): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125293858 | A | ATATATAA others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02004.hp1 HG02071.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(1): Show | a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 others(8): Show |
11 | 340 | 0.0324 | 15 | c.-14 others(34): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125300023 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18747.hp2 NA18942.hp2 others(3): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(1): Show | a0001c0001t0001g0224 a0001c0001t0001g0268 a0001c0001t0001g0327 others(3): Show |
6 | 340 | 0.0177 | 15 | c.185 others(30): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32364027 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02145.hp2 NA18939.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0011a0004c0013 | a0001c0001t0001a0001c0001t0040a0004c0011t0001others(1): Show | a0001c0001t0001g0082 a0001c0001t0001g0126 a0001c0001t0040g0192 others(2): Show |
5 | 192 | 0.0260 | 15 | c.262 others(34): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
GAREM1_chr18_32258522_32475882 | 32364028 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0084 | 1 | 192 | 0.0052 | 15 | c.262 others(34): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
GARIN1A_chr7_128667292_128692877 | 128681469 | T | TCCTCCTC others(8): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 428 | 0.0023 | 15 | c.707 others(32): Show |
GARIN1A | ENSG00000205085.13 | transcript | ENST00000682356.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |