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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3792): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 3 | 0.3333 | 3799 | c.*14 others(3810): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAGAGAG others(3792): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0084 | 1 | 8 | 0.1250 | 3799 | c.723 others(3816): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3792): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0083 | 1 | 20 | 0.0500 | 3799 | c.206 others(3818): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3792): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0075 | 1 | 203 | 0.0049 | 3799 | c.-21 others(3816): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 184000537 | T | TGATTTTG others(3793): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0202 | 1 | 266 | 0.0038 | 3800 | c.264 others(3819): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184000537 | T | TGATTTTG others(3793): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0328 others(1): Show |
4 | 269 | 0.0149 | 3800 | c.264 others(3819): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184000537 | T | TGATTTTG others(3793): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02896.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0230 a0001c0001t0002g0237 a0001c0001t0014g0209 |
3 | 268 | 0.0112 | 3800 | c.264 others(3819): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184000537 | T | TGATTTTG others(3793): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 266 | 0.0038 | 3800 | c.264 others(3819): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184000537 | T | TGATTTTG others(3793): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0013 | a0013c0013 | a0013c0013t0012 | a0013c0013t0012g0113 | 1 | 266 | 0.0038 | 3800 | c.264 others(3819): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3793): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02055.hp2 others(7): Show |
a0001a0003a0011others(2): Show | a0001c0001a0001c0004a0001c0012others(4): Show | a0001c0001t0066a0001c0004t0001a0001c0004t0007others(7): Show | a0001c0001t0066g0009 a0001c0004t0001g0093 a0001c0004t0007g0019 others(7): Show |
10 | 50 | 0.2000 | 3800 | c.225 others(3821): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3793): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0022 | a0001c0022t0055 | a0001c0022t0055g0139 | 1 | 41 | 0.0244 | 3800 | c.225 others(3821): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3793): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03486.hp1 NA19030.hp1 |
a0001a0007 | a0001c0001a0007c0018a0007c0032 | a0001c0001t0037a0007c0018t0023a0007c0032t0023 | a0001c0001t0037g0120 a0007c0018t0023g0157 a0007c0032t0023g0160 |
3 | 43 | 0.0698 | 3800 | c.225 others(3821): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTGGGTG others(3793): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0049 | 1 | 110 | 0.0091 | 3800 | c.115 others(3817): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3794): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0149 | 1 | 64 | 0.0156 | 3801 | c.294 others(3818): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3794): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 64 | 0.0156 | 3801 | c.294 others(3818): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3794): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 1 | 64 | 0.0156 | 3801 | c.294 others(3818): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3794): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 64 | 0.0156 | 3801 | c.294 others(3818): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184000537 | T | TGATTTTG others(3794): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0327 | 1 | 266 | 0.0038 | 3801 | c.264 others(3820): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184000537 | T | TGATTTTG others(3794): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0005 | a0003c0005t0037 | a0003c0005t0037g0102 | 1 | 266 | 0.0038 | 3801 | c.264 others(3820): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3794): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0163 | 1 | 2 | 0.5000 | 3801 | c.126 others(3818): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3794): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0038 | a0001c0038t0006 | a0001c0038t0006g0097 | 1 | 41 | 0.0244 | 3801 | c.225 others(3822): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3794): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG02258.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0025others(9): Show | a0001c0001t0002g0020 a0001c0001t0008g0052 a0001c0001t0025g0075 others(10): Show |
13 | 53 | 0.2453 | 3801 | c.225 others(3822): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(3795): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 3 | 0.3333 | 3802 | c.-34 others(3817): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0007 | a0001c0007t0035 | a0001c0007t0035g0130 | 1 | 41 | 0.0244 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0048 | a0001c0004t0048g0138 | 1 | 41 | 0.0244 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG01243.hp2 others(8): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(8): Show | a0001c0001t0001g0151 a0001c0001t0008g0119 a0001c0001t0016g0135 others(8): Show |
11 | 51 | 0.2157 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0024 | 1 | 41 | 0.0244 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0022 | a0022c0034 | a0022c0034t0007 | a0022c0034t0007g0159 | 1 | 41 | 0.0244 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02922.hp2 HG02965.hp2 others(1): Show |
a0001a0008 | a0001c0016a0001c0020a0001c0046others(1): Show | a0001c0016t0045a0001c0020t0013a0001c0046t0057others(1): Show | a0001c0016t0045g0098 a0001c0020t0013g0086 a0001c0046t0057g0079 others(1): Show |
4 | 44 | 0.0909 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0024a0001c0001t0029others(1): Show | a0001c0001t0011g0084 a0001c0001t0024g0068 a0001c0001t0029g0094 others(1): Show |
4 | 44 | 0.0909 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp1 others(24): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0002a0001c0001t0041a0001c0001t0071others(17): Show | a0001c0001t0002g0049 a0001c0001t0041g0022 a0001c0001t0071g0047 others(24): Show |
27 | 67 | 0.4030 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0008 | a0003c0008t0006 | a0003c0008t0006g0095 | 1 | 41 | 0.0244 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0029 | 1 | 41 | 0.0244 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG02055.hp1 others(11): Show |
a0001a0003a0014others(1): Show | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0038a0001c0002t0001a0001c0014t0001others(8): Show | a0001c0001t0038g0107 a0001c0002t0001g0125 a0001c0014t0001g0056 others(11): Show |
14 | 54 | 0.2593 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0013 | a0001c0013t0049 | a0001c0013t0049g0154 | 1 | 41 | 0.0244 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02109.hp1 HG02257.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0067a0001c0001t0087a0001c0004t0014others(4): Show | a0001c0001t0067g0013 a0001c0001t0087g0088 a0001c0004t0014g0077 others(5): Show |
8 | 48 | 0.1667 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3796): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0051 | a0001c0051t0047 | a0001c0051t0047g0156 | 1 | 41 | 0.0244 | 3803 | c.225 others(3824): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3797): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 3 | 0.3333 | 3804 | c.*14 others(3815): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245660294 | G | GGGCATGC others(3797): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0053 | 1 | 41 | 0.0244 | 3804 | c.225 others(3825): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3798): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 64 | 0.0156 | 3805 | c.294 others(3822): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 172005 | C | CAACCAGT others(3798): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 395 | 0.0051 | 3805 | c.-47 others(3816): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 4674 | chr16 | TogoVar | |||||||
HBA2_chr16_167876_178710 | 172005 | C | CAACCAGT others(3798): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 383 | 0.0052 | 3805 | c.-90 others(3814): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 870 | chr16 | TogoVar | |||||||
HBA2_chr16_167876_178710 | 172240 | G | GTTCCTTC others(3798): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 367 | 0.0027 | 3805 | c.-67 others(3814): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 635 | chr16 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414462 | G | GGAAGGCA others(3798): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0200 | 1 | 334 | 0.0030 | 3805 | c.115 others(3822): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 174399 | T | TGCTTCTG others(3799): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 18 | 0.0556 | 3806 | c.-23 others(3817): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 2280 | chr16 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 174399 | T | TGCTTCTG others(3799): Show |
upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 18 | 0.0556 | 3806 | c.-23 others(3817): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 2280 | chr16 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 174399 | T | TGCTTCTG others(3799): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 18 | 0.0556 | 3806 | c.-23 others(3817): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 2280 | chr16 | TogoVar | |||||||
HBA2_chr16_167876_178710 | 174399 | T | TGCTTCTG others(3799): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 18 | 0.1111 | 3806 | c.*79 others(3815): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 690 | chr16 | TogoVar | |||||||
HBA2_chr16_167876_178710 | 174399 | T | TGCTTCTG others(3799): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 17 | 0.0588 | 3806 | c.*79 others(3815): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 690 | chr16 | TogoVar | |||||||
HBA2_chr16_167876_178710 | 174399 | T | TGCTTCTG others(3799): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 17 | 0.0588 | 3806 | c.*79 others(3815): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 690 | chr16 | TogoVar |