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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT14_chr2_30905467_31143440 | 30987706 | TCCCTCCC others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0015others(5): Show | 8 | 226 | 0.0354 | -9 | c.299 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30987707 | CCCTCCCC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(71): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(71): Show | 74 | 226 | 0.3274 | -9 | c.299 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16207535 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02723.hp2 others(5): Show |
a0003a0005 | a0003c0008a0003c0015a0003c0034others(1): Show | a0003c0008t0010a0003c0008t0042a0003c0008t0050others(4): Show | a0003c0008t0010g0032a0003c0008t0042g0031a0003c0008t0050g0340others(5): Show | 8 | 388 | 0.0206 | -9 | c.912 others(24): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16213287 | CTACTAAA others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG01106.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0003a0002c0003t0001others(9): Show | a0001c0001t0001g0257a0001c0002t0003g0147a0002c0003t0001g0123others(53): Show | 56 | 388 | 0.1443 | -9 | c.139 others(26): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71134835 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0002g0018a0001c0001t0002g0019a0001c0001t0002g0021others(4): Show | 7 | 76 | 0.0921 | -9 | c.238 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71187282 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02129.hp1 NA18983.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0039a0001c0001t0005g0051a0001c0001t0007g0055others(2): Show | 5 | 76 | 0.0658 | -9 | c.238 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71227174 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG02040.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0039a0001c0001t0001g0045others(14): Show | 17 | 76 | 0.2237 | -9 | c.238 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71361377 | TTGAAACC others(2): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0042a0001c0001t0004g0028a0001c0001t0004g0029 | 3 | 76 | 0.0395 | -9 | c.422 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71377115 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02896.hp1 HG03704.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0001t0005g0054a0001c0002t0002g0020a0001c0002t0007g0060others(2): Show | 5 | 76 | 0.0658 | -9 | c.423 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71486334 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0034others(19): Show | 22 | 76 | 0.2895 | -9 | c.962 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT18_chr11_11265877_11627005 | 11309456 | CCTAGAAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG01123.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0141a0001c0001t0001g0146a0001c0001t0002g0052others(7): Show | 10 | 260 | 0.0385 | -9 | c.151 others(30): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11440429 | AAGGTGGG others(2): Show |
A | intron_variant | MODIFIER | NA18974.hp1 NA19057.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0062a0001c0002t0001g0119 | 2 | 260 | 0.0077 | -9 | c.429 others(26): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 2/10 | chr11 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230141788 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02572.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0001g0269a0001c0001t0001g0308a0001c0001t0003g0283others(15): Show | 18 | 324 | 0.0556 | -9 | c.127 others(28): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT2_chr1_230062238_230287122 | 230264972 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00673.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0005a0001c0002t0001a0001c0002t0004others(9): Show | a0001c0001t0005g0099a0001c0002t0001g0012a0001c0002t0001g0035others(57): Show | 60 | 324 | 0.1852 | -9 | c.131 others(26): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT3_chr2_165742588_165799247 | 165769407 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA18940.hp1 NA18948.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0018a0001c0001t0001g0041a0001c0001t0001g0306others(9): Show | 15 | 386 | 0.0389 | -9 | c.515 others(24): Show |
GALNT3 | ENSG00000115339.14 | transcript | ENST00000392701.8 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256568 | AAATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01361.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0101a0001c0001t0001g0111others(16): Show | 21 | 282 | 0.0745 | -9 | c.-15 others(20): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1136 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256570 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01123.hp1 HG01928.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0131a0001c0001t0002g0012others(4): Show | 7 | 282 | 0.0248 | -9 | c.-15 others(20): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1134 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157262155 | ACATAACT others(2): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0088a0001c0002t0078a0001c0002t0086 | a0001c0001t0088g0246a0001c0002t0078g0247a0001c0002t0086g0248 | 3 | 282 | 0.0106 | -9 | c.145 others(28): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT6_chr12_51346252_51396406 | 51371054 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01361.hp2 HG01928.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0012 | a0001c0001t0013a0001c0001t0017a0001c0003t0015others(2): Show | a0001c0001t0013g0075a0001c0001t0017g0083a0001c0003t0015g0289others(2): Show | 5 | 428 | 0.0117 | -9 | c.665 others(26): Show |
GALNT6 | ENSG00000139629.16 | transcript | ENST00000356317.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
GALNT7_chr4_173163811_173328967 | 173225018 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02630.hp1 others(6): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0094a0001c0001t0001g0096a0001c0004t0001g0006others(6): Show | 9 | 266 | 0.0338 | -9 | c.127 others(28): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132223001 | CCCCACAC others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02735.hp2 HG03017.hp1 others(3): Show |
a0001 | a0001c0002a0001c0006a0001c0018others(2): Show | a0001c0002t0001a0001c0006t0001a0001c0018t0001others(2): Show | a0001c0002t0001g0068a0001c0006t0001g0097a0001c0006t0001g0098others(3): Show | 6 | 183 | 0.0328 | -9 | c.107 others(30): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132224607 | ACATACAC others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014a0001c0019others(1): Show | a0001c0001t0001a0001c0014t0003a0001c0019t0003others(1): Show | a0001c0001t0001g0150a0001c0014t0003g0074a0001c0014t0003g0146others(3): Show | 6 | 183 | 0.0328 | -9 | c.107 others(30): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNTL5_chr7_151951446_152024929 | 151980737 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01516.hp1 NA18942.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0001g0284others(3): Show | 6 | 384 | 0.0156 | -9 | c.369 others(26): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNTL5_chr7_151951446_152024929 | 151995348 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(27): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0103a0001c0001t0001g0181others(26): Show | 30 | 384 | 0.0781 | -9 | c.659 others(26): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172102580 | CCAGAGAT others(2): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02145.hp2 HG02258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0036others(14): Show | 17 | 40 | 0.4250 | -9 | c.139 others(30): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172748880 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02145.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0002g0003others(4): Show | 7 | 40 | 0.1750 | -9 | c.554 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172802868 | GATTAAGT others(2): Show |
G | intron_variant | MODIFIER | HG02015.hp1 HG02647.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0029others(4): Show | 7 | 40 | 0.1750 | -9 | c.554 others(26): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172934634 | AGCACACT others(2): Show |
A | intron_variant | MODIFIER | HG02735.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0029a0001c0001t0012g0027 | 2 | 40 | 0.0500 | -9 | c.114 others(28): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77249082 | AACGCATC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01255.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0030a0001c0002t0031a0001c0002t0054others(6): Show | a0001c0002t0030g0140a0001c0002t0030g0196a0001c0002t0030g0197others(11): Show | 15 | 366 | 0.0410 | -9 | c.-14 others(20): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 765 | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259056 | GATGGTGG others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01069.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0008a0001c0001t0009others(26): Show | a0001c0001t0005g0223a0001c0001t0005g0276a0001c0001t0005g0296others(44): Show | 49 | 366 | 0.1339 | -9 | c.732 others(26): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77259275 | GTGGTGGT others(2): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA18966.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0145a0001c0002t0055 | a0001c0001t0019g0232a0001c0001t0019g0234a0001c0001t0145g0233others(1): Show | 4 | 366 | 0.0109 | -9 | c.732 others(26): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77264133 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01361.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0098a0001c0002t0031a0001c0002t0055others(6): Show | a0001c0001t0098g0265a0001c0002t0031g0016a0001c0002t0031g0228others(14): Show | 18 | 366 | 0.0492 | -9 | c.733 others(26): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77268542 | GCCTCCTC others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01167.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0113a0001c0001t0114a0001c0001t0115others(4): Show | a0001c0001t0113g0063a0001c0001t0114g0057a0001c0001t0115g0100others(5): Show | 9 | 366 | 0.0246 | -9 | c.733 others(22): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77271979 | GACTGAGG others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01167.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0113a0001c0001t0114a0001c0001t0115others(4): Show | a0001c0001t0113g0063a0001c0001t0114g0057a0001c0001t0115g0100others(5): Show | 9 | 366 | 0.0246 | -9 | c.*30 others(20): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3/3 | 3079 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
GALT_chr9_34641675_34656035 | 34644302 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01257.hp2 HG02970.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008 | 5 | 416 | 0.0120 | -9 | c.-24 others(20): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2372 | chr9 | TogoVar | ||||||
GANC_chr15_42268201_42358666 | 42347183 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00735.hp2 others(26): Show |
a0003a0009a0013 | a0003c0003a0009c0009a0013c0016 | a0003c0003t0005a0003c0003t0012a0009c0009t0010others(1): Show | a0003c0003t0005g0011a0003c0003t0005g0107a0003c0003t0005g0108others(26): Show | 29 | 262 | 0.1107 | -9 | c.230 others(26): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GANC_chr15_42268201_42358666 | 42350022 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02965.hp2 others(2): Show |
a0008 | a0008c0011a0008c0025 | a0008c0011t0009a0008c0025t0009 | a0008c0011t0009g0012a0008c0011t0009g0013a0008c0011t0009g0015others(2): Show | 5 | 262 | 0.0191 | -9 | c.253 others(26): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GAP43_chr3_115618510_115726483 | 115698140 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(156): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0028others(156): Show | 159 | 352 | 0.4517 | -9 | c.628 others(28): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GAP43_chr3_115618510_115726483 | 115698205 | TTATATAA others(2): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0092others(5): Show | 8 | 352 | 0.0227 | -9 | c.628 others(28): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125286294 | GTTGTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001a0001c0001t0009g0002a0001c0001t0009g0003 | 3 | 340 | 0.0088 | -9 | c.-14 others(28): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125300039 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0317a0001c0001t0002g0022a0001c0001t0002g0024others(10): Show | 13 | 340 | 0.0382 | -9 | c.185 others(24): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | chr9 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32291349 | AAGGAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01243.hp2 others(17): Show |
a0001a0002a0012 | a0001c0004a0002c0005a0002c0006others(2): Show | a0001c0004t0001a0002c0005t0004a0002c0005t0011others(7): Show | a0001c0004t0001g0135a0002c0005t0004g0009a0002c0005t0004g0038others(17): Show | 20 | 192 | 0.1042 | -9 | c.394 others(26): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 3/5 | chr18 | TogoVar | ||||||
GARIN2_chr14_67184440_67228940 | 67204904 | ATCACAGA others(2): Show |
A | conservative_inframe_deletion | MODERATE | HG02809.hp2 HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0032a0004c0008t0001g0195 | 3 | 332 | 0.0090 | -9 | c.736 others(16): Show |
p.Val others(13): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 5/8 | 979/1620 | 736/1254 | 246/417 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
GARNL3_chr9_127259774_127398660 | 127299321 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(218): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(214): Show | 221 | 300 | 0.7367 | -9 | c.219 others(26): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GARRE1_chr19_34249554_34360566 | 34257878 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01074.hp1 others(36): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0001c0001t0021a0008c0012t0001 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0177others(36): Show | 39 | 326 | 0.1196 | -9 | c.-79 others(28): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GARRE1_chr19_34249554_34360566 | 34301513 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01074.hp1 others(36): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0001c0001t0021a0008c0012t0001 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0177others(36): Show | 39 | 326 | 0.1196 | -9 | c.495 others(24): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GAS2L3_chr12_100568684_100633288 | 100579685 | GCATGGCG others(2): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0026 | a0001c0001t0016g0178a0001c0001t0016g0179a0001c0001t0026g0165 | 3 | 402 | 0.0075 | -9 | c.-15 others(28): Show |
GAS2L3 | ENSG00000139354.11 | transcript | ENST00000547754.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GAS2_chr11_22661611_22818001 | 22732770 | TATCATCA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0039a0001c0001t0001g0081a0001c0001t0001g0084others(41): Show | 44 | 272 | 0.1618 | -9 | c.410 others(26): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GAS7_chr17_9905606_10203606 | 10006316 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0088a0001c0001t0001g0099a0001c0001t0002g0113others(4): Show | 7 | 218 | 0.0321 | -9 | c.304 others(28): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 10016751 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171a0001c0001t0001g0184a0001c0001t0002g0057others(1): Show | 4 | 218 | 0.0184 | -9 | c.304 others(26): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 2/13 | chr17 | TogoVar |