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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3420): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 424 | 0.0024 | 3427 | c.*49 others(3438): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(3420): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0096 | 1 | 298 | 0.0034 | 3427 | c.126 others(3444): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3420): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(9): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0004a0007c0010t0001 | a0001c0001t0001g0001a0001c0001t0004g0001a0007c0010t0001g0001 | 12 | 405 | 0.0296 | 3427 | c.-13 others(3438): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3420): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0057 | a0057c0052 | a0057c0052t0001 | a0057c0052t0001g0017 | 1 | 186 | 0.0054 | 3427 | c.723 others(3444): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3420): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01070.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0004a0001c0002t0001g0261a0001c0002t0001g0262others(6): Show | 10 | 365 | 0.0274 | 3427 | c.-10 others(3438): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3421): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 405 | 0.0222 | 3428 | c.-13 others(3439): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3421): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | 3428 | c.-13 others(3439): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3421): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0062 | a0003c0062t0001 | a0003c0062t0001g0049 | 1 | 186 | 0.0054 | 3428 | c.723 others(3445): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3421): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 80 | 0.0125 | 3428 | c.125 others(3445): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3421): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0009 | a0001c0003t0001g0011a0001c0003t0001g0304a0001c0003t0001g0306others(5): Show | 9 | 365 | 0.0247 | 3428 | c.-10 others(3439): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3421): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0286 | 1 | 365 | 0.0027 | 3428 | c.-10 others(3439): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(3421): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0287 | 1 | 356 | 0.0028 | 3428 | c.114 others(3445): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3422): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 424 | 0.0024 | 3429 | c.*49 others(3440): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3422): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 424 | 0.0024 | 3429 | c.*49 others(3440): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3422): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0031 | a0001c0031t0003 | a0001c0031t0003g0029 | 1 | 298 | 0.0034 | 3429 | c.126 others(3446): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132243320 | A | AACACACC others(3422): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0039 | a0001c0039t0006 | a0001c0039t0006g0001 | 1 | 183 | 0.0055 | 3429 | c.107 others(3448): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3422): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 HG03927.hp1 HG03927.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 405 | 0.0124 | 3429 | c.-13 others(3440): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3422): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3429 | c.-13 others(3440): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3422): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3429 | c.-13 others(3440): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3422): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3429 | c.-13 others(3440): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3422): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0003 | 1 | 405 | 0.0025 | 3429 | c.-13 others(3440): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877396 | G | GGGAGGTT others(3422): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0176 | 1 | 274 | 0.0037 | 3429 | c.224 others(3448): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3422): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 216 | 0.0046 | 3429 | c.-51 others(3448): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3422): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 NA18998.hp1 NA20905.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0005a0001c0006t0001 | a0001c0002t0001g0296a0001c0002t0005g0299a0001c0006t0001g0024 | 3 | 365 | 0.0082 | 3429 | c.-10 others(3440): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3422): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0260 | 1 | 365 | 0.0027 | 3429 | c.-10 others(3440): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3422): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0300 | 1 | 365 | 0.0027 | 3429 | c.-10 others(3440): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3422): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 | 1 | 365 | 0.0027 | 3429 | c.-10 others(3440): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3423): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 424 | 0.0024 | 3430 | c.*49 others(3441): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3423): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 424 | 0.0024 | 3430 | c.*49 others(3441): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3423): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 NA18980.hp2 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0151others(1): Show | 4 | 424 | 0.0094 | 3430 | c.*49 others(3441): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 405 | 0.0148 | 3430 | c.-13 others(3441): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3430 | c.-13 others(3441): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3430 | c.-13 others(3441): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3430 | c.-13 others(3441): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3430 | c.-13 others(3441): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01106.hp2 HG02615.hp2 others(5): Show |
a0001a0004 | a0001c0003a0004c0009 | a0001c0003t0001a0004c0009t0001 | a0001c0003t0001g0301a0001c0003t0001g0302a0001c0003t0001g0316others(5): Show | 8 | 365 | 0.0219 | 3430 | c.-10 others(3441): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 365 | 0.0027 | 3430 | c.-10 others(3441): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 365 | 0.0027 | 3430 | c.-10 others(3441): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0254 | 1 | 365 | 0.0027 | 3430 | c.-10 others(3441): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3423): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240 | 1 | 365 | 0.0027 | 3430 | c.-10 others(3441): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3424): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 424 | 0.0024 | 3431 | c.*49 others(3442): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3424): Show |
downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 424 | 0.0024 | 3431 | c.*49 others(3442): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3424): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 424 | 0.0024 | 3431 | c.*49 others(3442): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(3424): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 342 | 0.0029 | 3431 | c.366 others(3448): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3424): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01175.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 20 | 405 | 0.0494 | 3431 | c.-13 others(3442): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3424): Show |
upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3431 | c.-13 others(3442): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3424): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3431 | c.-13 others(3442): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3424): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3431 | c.-13 others(3442): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3424): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0030 | 1 | 423 | 0.0024 | 3431 | c.*19 others(3442): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | ||||||
PLP1_chrX_103771840_103797619 | 103772857 | G | GGCTGATC others(3424): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 HG01993.hp2 NA18956.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0015a0001c0003t0002g0080 | 7 | 317 | 0.0221 | 3431 | c.-41 others(3442): Show |
PLP1 | ENSG00000123560.14 | transcript | ENST00000621218.5 | protein_coding | 3982 | chrX | TogoVar |