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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT9_chr12_132191372_132334589 | 132232289 | GGACAGCG others(41): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0098 | 1 | 167 | 0.0060 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232343 | CGTGGAGT others(41): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0103 | 1 | 181 | 0.0055 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232391 | TGTGGAGT others(41): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0035 | a0001c0035t0009 | a0001c0035t0009g0140 | 1 | 99 | 0.0101 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232391 | TGTGGAGT others(41): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02148.hp1 HG03492.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0019 a0001c0002t0001g0034 a0001c0003t0001g0012 others(8): Show |
11 | 109 | 0.1009 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232535 | CGTGGAGT others(41): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0087 | 1 | 176 | 0.0057 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232583 | TGTGGAGT others(41): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 114 | 0.0088 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232644 | GTGCCACA others(41): Show |
G | intron_variant | MODIFIER | HG06807.hp1 NA19056.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0002 | a0001c0001t0001g0033 a0001c0009t0002g0168 |
2 | 176 | 0.0114 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232727 | CGTGGAGT others(41): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 177 | 0.0056 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232740 | GTGCCACA others(41): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01099.hp1 HG01106.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(8): Show | a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0083 others(24): Show |
27 | 173 | 0.1561 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232788 | CTGCCACA others(41): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0002 | a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0084 others(1): Show |
4 | 109 | 0.0367 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232823 | CGTGGAGT others(41): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 171 | 0.0058 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232871 | TGTGGAGT others(41): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01433.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0003t0001g0091 others(5): Show |
8 | 78 | 0.1026 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232871 | TGTGGAGT others(41): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG03579.hp1 NA18966.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0002t0001g0071 a0001c0003t0001g0162 a0001c0004t0001g0060 others(3): Show |
6 | 76 | 0.0789 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132233434 | CAGAGGAG others(41): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG02148.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0027 a0001c0002t0001g0068 a0001c0004t0001g0016 others(3): Show |
6 | 179 | 0.0335 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132233626 | CAGAGGAG others(41): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0021 | a0001c0021t0004 | a0001c0021t0004g0155 | 1 | 176 | 0.0057 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132233693 | TCCCTAGT others(41): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0098 | 1 | 172 | 0.0058 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132233783 | GTGGAGTC others(41): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 181 | 0.0055 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132234010 | CAGAGGAG others(41): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0098 | 1 | 181 | 0.0055 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132234058 | GAGAGGAG others(41): Show |
G | intron_variant | MODIFIER | HG02132.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0064 |
2 | 136 | 0.0147 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132234407 | GTGGAGTC others(41): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02040.hp2 HG02135.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(4): Show | a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0011g0050 others(5): Show |
8 | 182 | 0.0440 | -48 | c.107 others(69): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132303584 | CTCGCCCG others(41): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01943.hp1 |
a0001a0002 | a0001c0031a0002c0032 | a0001c0031t0001a0002c0032t0002 | a0001c0031t0001g0038 a0002c0032t0002g0167 |
2 | 182 | 0.0110 | -48 | c.239 others(67): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132303591 | GGGCACAC others(41): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02135.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0007 others(8): Show |
11 | 181 | 0.0608 | -48 | c.239 others(67): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132303846 | CGGACACA others(41): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0025 | a0001c0025t0012 | a0001c0025t0012g0048 | 1 | 156 | 0.0064 | -48 | c.239 others(67): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132304726 | GGGGCACA others(41): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0078 a0001c0006t0001g0142 |
2 | 143 | 0.0140 | -48 | c.239 others(67): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132305123 | ACCCGGGC others(41): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 182 | 0.0055 | -48 | c.239 others(67): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNTL5_chr7_151951446_152024929 | 151981559 | TTCCTTCC others(41): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02071.hp2 HG02135.hp2 others(15): Show |
a0002a0010 | a0002c0002a0010c0008 | a0002c0002t0001a0002c0002t0002a0010c0008t0001others(1): Show | a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0059 others(15): Show |
18 | 345 | 0.0522 | -48 | c.369 others(65): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252941 | CCACCACC others(41): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01258.hp1 NA18980.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0015 a0001c0002t0007g0015 a0001c0002t0007g0140 |
3 | 349 | 0.0086 | -48 | c.666 others(65): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252950 | TCACCACC others(41): Show |
T | intron_variant | MODIFIER | NA18943.hp1 NA19088.hp2 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0024a0003c0007t0053 | a0001c0002t0024g0035 a0003c0007t0053g0136 |
2 | 263 | 0.0076 | -48 | c.666 others(65): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259150 | CATGGTGG others(41): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0042a0001c0002t0051 | a0001c0001t0003g0323 a0001c0001t0042g0171 a0001c0001t0042g0219 others(1): Show |
4 | 209 | 0.0191 | -48 | c.732 others(65): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GARIN2_chr14_67184440_67228940 | 67193268 | CTATCTAT others(41): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01433.hp1 HG01496.hp1 others(8): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0052 a0001c0002t0001g0111 a0001c0002t0001g0172 others(8): Show |
11 | 330 | 0.0333 | -48 | c.-11 others(67): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GARIN5A_chr19_50461788_50481848 | 50471642 | ATATACGC others(41): Show |
A | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 159 | 0.0063 | -48 | c.539 others(65): Show |
GARIN5A | ENSG00000142530.11 | transcript | ENST00000600100.6 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GARIN5A_chr19_50461788_50481848 | 50471707 | CGTGTGTG others(41): Show |
C | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 409 | 0.0024 | -48 | c.539 others(65): Show |
GARIN5A | ENSG00000142530.11 | transcript | ENST00000600100.6 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151732007 | TGGGGGGT others(41): Show |
T | intron_variant | MODIFIER | HG03209.hp2 NA19043.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0194 a0006c0008t0001g0195 |
2 | 314 | 0.0064 | -48 | c.328 others(67): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
GCGR_chr17_81799150_81819008 | 81805543 | CCCTCCCA others(41): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(1): Show |
5 | 406 | 0.0123 | -48 | c.-17 others(67): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610177 | GCCTGCCT others(41): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(76): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0009 | a0001c0001t0013a0001c0001t0014a0001c0001t0034others(25): Show | a0001c0001t0013g0002 a0001c0001t0013g0019 a0001c0001t0014g0002 others(38): Show |
79 | 424 | 0.1863 | -48 | c.-20 others(59): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1605 | chr15 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59610627 | CTCCTTCC others(41): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(79): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0007c0010others(1): Show | a0001c0001t0006a0001c0001t0013a0001c0001t0014others(25): Show | a0001c0001t0006g0002 a0001c0001t0013g0002 a0001c0001t0013g0019 others(37): Show |
82 | 421 | 0.1948 | -48 | c.-16 others(59): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1155 | chr15 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59610874 | CCCTCCCC others(41): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0053a0001c0002t0033a0001c0002t0100others(1): Show | a0001c0001t0053g0088 a0001c0002t0033g0090 a0001c0002t0033g0091 others(2): Show |
5 | 422 | 0.0118 | -48 | c.-13 others(59): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 908 | chr15 | TogoVar | |||||||
GDF7_chr2_20662144_20684243 | 20671688 | GGCGCCCA others(41): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0001 | 1 | 440 | 0.0023 | -48 | c.*26 others(57): Show |
GDF7 | ENSG00000143869.7 | transcript | ENST00000272224.5 | protein_coding | 2/2 | 266 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GEMIN4_chr17_739421_757264 | 748955 | GGATAATG others(41): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 432 | 0.0023 | -48 | c.11- others(61): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
GGACT_chr13_100525180_100593789 | 100550362 | CCCTTCTA others(41): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 374 | 0.0027 | -48 | c.-10 others(67): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 2/2 | chr13 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24606016 | TATTATAT others(41): Show |
T | intron_variant | MODIFIER | HG03688.hp2 HG03704.hp1 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0397 a0001c0006t0002g0398 |
2 | 424 | 0.0047 | -48 | c.-42 others(67): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GIGYF1_chr7_100674507_100699250 | 100694312 | ACCGCCGC others(41): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01358.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0004 a0001c0001t0007g0191 |
3 | 7 | 0.4286 | -48 | c.-13 others(59): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 63 | chr7 | TogoVar | |||||||
GIGYF1_chr7_100674507_100699250 | 100694336 | GCCGCCGC others(41): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG03225.hp1 |
a0001 | a0001c0008 | a0001c0008t0032a0001c0008t0068 | a0001c0008t0032g0063 a0001c0008t0032g0065 a0001c0008t0068g0064 |
3 | 395 | 0.0076 | -48 | c.-13 others(59): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 87 | chr7 | TogoVar | |||||||
GIGYF2_chr2_232692331_232865605 | 232836263 | CATATATA others(41): Show |
C | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0010 | 1 | 265 | 0.0038 | -48 | c.276 others(67): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836319 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086 | 1 | 369 | 0.0027 | -48 | c.276 others(67): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232836329 | TACATATA others(41): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0001 a0001c0002t0007g0371 |
3 | 360 | 0.0083 | -48 | c.276 others(67): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GKAP1_chr9_83734425_83822769 | 83804524 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG02738.hp2 HG04184.hp1 NA18974.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0001g0135 others(2): Show |
5 | 331 | 0.0151 | -48 | c.216 others(65): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
GKAP1_chr9_83734425_83822769 | 83804535 | CCCCCCGC others(41): Show |
C | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 334 | 0.0030 | -48 | c.216 others(65): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308175 | CCACCATC others(41): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136 | 1 | 363 | 0.0028 | -48 | c.961 others(64): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLCE_chr15_69155635_69277207 | 69177684 | CCTTTATC others(41): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(4): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0010a0004c0005t0007a0004c0005t0013 | a0002c0002t0010g0011 a0002c0002t0010g0012 a0004c0005t0007g0013 others(4): Show |
7 | 327 | 0.0214 | -48 | c.-10 others(69): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |