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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GEMIN6_chr2_38773210_38790002 | 38779664 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0080 | 1 | 412 | 0.0024 | 17 | c.128 others(32): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GET4_chr7_871554_901436 | 897651 | A | AGGGGGCA others(10): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0031others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(66): Show | 92 | 384 | 0.2396 | 17 | c.*22 others(28): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 1216 | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 897656 | G | GCACCTGG others(10): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0180a0001c0001t0012g0186 | 2 | 384 | 0.0052 | 17 | c.*22 others(28): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 1221 | chr7 | TogoVar | ||||||
GFI1B_chr9_132973694_132996687 | 132974601 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG03516.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0006 | a0001c0001t0002g0173a0003c0003t0006g0038 | 2 | 476 | 0.0042 | 17 | c.-42 others(28): Show |
GFI1B | ENSG00000165702.15 | transcript | ENST00000372122.4 | protein_coding | 4092 | chr9 | TogoVar | ||||||
GFI1B_chr9_132973694_132996687 | 132995658 | C | CCTCAGGA others(10): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0057 | 1 | 476 | 0.0021 | 17 | c.*46 others(28): Show |
GFI1B | ENSG00000165702.15 | transcript | ENST00000372122.4 | protein_coding | 3972 | chr9 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01981.hp1 |
a0001a0002 | a0001c0003a0001c0005a0002c0002 | a0001c0003t0008a0001c0005t0005a0002c0002t0008 | a0001c0003t0008g0145a0001c0005t0005g0045a0002c0002t0008g0012 | 3 | 412 | 0.0073 | 17 | c.*41 others(28): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0012 | 1 | 412 | 0.0024 | 17 | c.*41 others(28): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21736912 | G | GGAGGGGA others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 322 | 0.0031 | 17 | c.794 others(36): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21757506 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03831.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0027 | a0001c0001t0001g0090a0002c0002t0027g0015 | 2 | 322 | 0.0062 | 17 | c.440 others(34): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21776037 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0029 | 1 | 322 | 0.0031 | 17 | c.356 others(32): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
GFRA3_chr5_138247380_138279621 | 138271907 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344 | 1 | 376 | 0.0027 | 17 | c.91+ others(32): Show |
GFRA3 | ENSG00000146013.11 | transcript | ENST00000274721.8 | protein_coding | 1/7 | chr5 | TogoVar | ||||||
GFRAL_chr6_55322469_55407493 | 55395175 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 386 | 0.0026 | 17 | c.953 others(34): Show |
GFRAL | ENSG00000187871.2 | transcript | ENST00000340465.2 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
GGA1_chr22_37603834_37638564 | 37627328 | G | GGGAGAGC others(10): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 370 | 0.0027 | 17 | c.109 others(36): Show |
GGA1 | ENSG00000100083.19 | transcript | ENST00000343632.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGA3_chr17_75231599_75266606 | 75248468 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG04228.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0038a0001c0001t0002g0058a0001c0001t0002g0062others(3): Show | 6 | 364 | 0.0165 | 17 | c.41- others(32): Show |
GGA3 | ENSG00000125447.18 | transcript | ENST00000537686.6 | protein_coding | 1/16 | chr17 | TogoVar | ||||||
GGNBP2_chr17_36539919_36594848 | 36548615 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0045 | 1 | 357 | 0.0028 | 17 | c.93+ others(32): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGNBP2_chr17_36539919_36594848 | 36563000 | T | TCACGCCT others(10): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0089 | 1 | 357 | 0.0028 | 17 | c.527 others(34): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGTA1_chr9_121450040_121504844 | 121474833 | C | CACAGGCT others(10): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 338 | 0.0030 | 17 | c.-9- others(32): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121474833 | C | CGCAGGCT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(299): Show | 333 | 338 | 0.9852 | 17 | c.-9- others(32): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121474838 | G | GCTCCACC others(10): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 338 | 0.0030 | 17 | c.-9- others(32): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121496757 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0271 | 1 | 338 | 0.0030 | 17 | c.-10 others(34): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121496757 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02280.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249a0001c0001t0002g0250a0001c0001t0002g0251others(4): Show | 7 | 338 | 0.0207 | 17 | c.-10 others(34): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42474333 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03834.hp1 |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0017 | a0002c0002t0001g0037a0005c0007t0017g0136 | 2 | 210 | 0.0095 | 17 | c.-12 others(36): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GIMAP7_chr7_150509872_150526073 | 150515735 | T | TTTTAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(374): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(25): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0013others(58): Show | 377 | 466 | 0.8090 | 17 | c.-42 others(32): Show |
GIMAP7 | ENSG00000179144.5 | transcript | ENST00000313543.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIMAP8_chr7_150445630_150484393 | 150448755 | C | CGATTTCT others(10): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 372 | 0.0027 | 17 | c.-24 others(28): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1874 | chr7 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562316 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 380 | 0.0026 | 17 | c.-40 others(28): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4058 | chr6 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85671439 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0296 | 1 | 470 | 0.0021 | 17 | c.*67 others(28): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 4758 | chr16 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0007 | a0001c0001t0014g0265a0001c0003t0007g0078 | 2 | 470 | 0.0043 | 17 | c.205 others(34): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01192.hp2 HG01346.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0056a0001c0001t0002g0073others(1): Show | 5 | 426 | 0.0117 | 17 | c.*47 others(28): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3587674 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(331): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(121): Show | 334 | 430 | 0.7767 | 17 | c.592 others(32): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GIPC3_chr19_3580478_3598541 | 3598345 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0019 | 2 | 430 | 0.0047 | 17 | c.*81 others(28): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 4805 | chr19 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48965138 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 406 | 0.0025 | 17 | c.87- others(30): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
GJB1_chrX_71218224_71230516 | 71220142 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01255.hp1 HG01978.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0004g0001others(1): Show | 27 | 328 | 0.0823 | 17 | c.-32 others(28): Show |
GJB1 | ENSG00000169562.13 | transcript | ENST00000361726.7 | protein_coding | 3081 | chrX | TogoVar | ||||||
GJB2_chr13_20182470_20197938 | 20197464 | T | TAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01515.hp1 HG02602.hp1 others(4): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0001c0001t0003a0004c0004t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0003g0049others(2): Show | 7 | 420 | 0.0167 | 17 | c.-47 others(28): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 4527 | chr13 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34751954 | G | GAAAAAAA others(10): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG02486.hp1 NA18959.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0012a0001c0003t0012 | a0001c0002t0012g0014a0001c0002t0012g0048a0001c0003t0012g0050 | 8 | 446 | 0.0179 | 17 | c.*52 others(26): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 2/2 | 523 | chr15 | TogoVar | |||||
GJD3_chr17_40355652_40369737 | 40358509 | A | AGAAGAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0000 | 1 | 370 | 0.0027 | 17 | c.*44 others(28): Show |
GJD3 | ENSG00000183153.7 | transcript | ENST00000578689.2 | protein_coding | 2142 | chr17 | TogoVar | ||||||
GK5_chr3_142152527_142230585 | 142159853 | C | CTCTCTCT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0207 | 1 | 272 | 0.0037 | 17 | c.*57 others(28): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5768 | chr3 | TogoVar | |||||
GKAP1_chr9_83734425_83822769 | 83817342 | C | CGCGGCCC others(10): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 336 | 0.0030 | 17 | c.-17 others(34): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308497 | A | ACCACCAC others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 422 | 0.0024 | 17 | c.962 others(34): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | chr11 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33022564 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00639.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0027a0001c0001t0001g0042others(28): Show | 31 | 394 | 0.0787 | 17 | c.114 others(34): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 11/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031638 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0382 | 1 | 394 | 0.0025 | 17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031640 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0251 | 1 | 394 | 0.0025 | 17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031640 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0243 | 1 | 394 | 0.0025 | 17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031640 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 394 | 0.0025 | 17 | c.106 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7966733 | C | CTTCTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0376 | 1 | 416 | 0.0024 | 17 | c.-26 others(28): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2062 | chr7 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7966733 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 416 | 0.0024 | 17 | c.-26 others(28): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2062 | chr7 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7976479 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18906.hp1 |
a0002 | a0002c0003 | a0002c0003t0011a0002c0003t0012 | a0002c0003t0011g0216a0002c0003t0012g0199 | 2 | 416 | 0.0048 | 17 | c.457 others(34): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 8023588 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 416 | 0.0024 | 17 | c.696 others(34): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLDC_chr9_6527467_6650729 | 6585892 | C | CTATCTAT others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0300a0001c0001t0002g0271others(5): Show | 9 | 342 | 0.0263 | 17 | c.185 others(36): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 15/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6629957 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 342 | 0.0029 | 17 | c.335 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0089 | 1 | 342 | 0.0029 | 17 | c.334 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar |