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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCCT others(21): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0029 | a0029c0033 | a0029c0033t0002 | a0029c0033t0002g0058 | 1 | 382 | 0.0026 | 28 | c.-13 others(39): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(21): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0006 | a0002c0006t0014 | a0002c0006t0014g0036 | 1 | 382 | 0.0026 | 28 | c.-13 others(39): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(21): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 382 | 0.0026 | 28 | c.-13 others(39): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(21): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 NA18978.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0172 a0001c0001t0002g0174 |
3 | 382 | 0.0079 | 28 | c.-13 others(39): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(21): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG03927.hp1 NA18993.hp2 others(1): Show |
a0001a0032 | a0001c0001a0001c0002a0032c0041 | a0001c0001t0004a0001c0002t0002a0001c0002t0006others(1): Show | a0001c0001t0004g0001 a0001c0002t0002g0117 a0001c0002t0006g0024 others(1): Show |
4 | 382 | 0.0105 | 28 | c.-13 others(39): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(21): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01069.hp2 others(4): Show |
a0001a0006a0008 | a0001c0001a0001c0014a0006c0013others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0014t0015others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0004g0001 others(3): Show |
7 | 382 | 0.0183 | 28 | c.-13 others(39): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(21): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 NA19059.hp1 |
a0001a0027 | a0001c0004a0027c0026 | a0001c0004t0001a0027c0026t0004 | a0001c0004t0001g0285 a0027c0026t0004g0050 |
2 | 382 | 0.0052 | 28 | c.-13 others(39): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(21): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 HG02273.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0164 a0001c0001t0005g0005 a0001c0002t0001g0025 others(1): Show |
4 | 382 | 0.0105 | 28 | c.-13 others(39): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA6_chr18_22164589_22207528 | 22204288 | C | CTCTTTCT others(21): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0146 a0001c0001t0002g0157 a0001c0001t0002g0195 others(1): Show |
4 | 286 | 0.0140 | 28 | c.*34 others(39): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 1761 | chr18 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153839108 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03490.hp1 NA18942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0022 | a0001c0001t0002g0163 a0001c0001t0002g0228 a0001c0001t0013g0183 others(1): Show |
4 | 349 | 0.0115 | 28 | c.-1- others(45): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153861795 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0345 a0001c0001t0025g0346 |
2 | 349 | 0.0057 | 28 | c.-1- others(45): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151735734 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0135 others(4): Show |
7 | 320 | 0.0219 | 28 | c.328 others(47): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151735736 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 320 | 0.0031 | 28 | c.328 others(47): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
GBGT1_chr9_133147948_133168914 | 133162152 | A | AAGTCCTG others(21): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0070 |
3 | 446 | 0.0067 | 28 | c.71+ others(41): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GBGT1_chr9_133147948_133168914 | 133166545 | C | CGAGGGCA others(21): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 446 | 0.0022 | 28 | c.-29 others(39): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 2632 | chr9 | TogoVar | |||||||
GBGT1_chr9_133147948_133168914 | 133166545 | C | CGAGGGCA others(21): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG02145.hp2 HG02486.hp1 others(19): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0013a0001c0003t0001others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0022 others(18): Show |
22 | 446 | 0.0493 | 28 | c.-29 others(39): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 2632 | chr9 | TogoVar | |||||||
GBGT1_chr9_133147948_133168914 | 133166566 | G | GGAGGTCA others(21): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(363): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0003a0001c0005others(30): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(39): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(156): Show |
366 | 446 | 0.8206 | 28 | c.-29 others(39): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 2653 | chr9 | TogoVar | |||||||
GBGT1_chr9_133147948_133168914 | 133166593 | G | GCGAGGTC others(21): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0024 | a0024c0040 | a0024c0040t0002 | a0024c0040t0002g0137 | 1 | 446 | 0.0022 | 28 | c.-29 others(39): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 2680 | chr9 | TogoVar | |||||||
GCGR_chr17_81799150_81819008 | 81809400 | T | TGTCTGCC others(21): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 408 | 0.0025 | 28 | c.60+ others(41): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GCGR_chr17_81799150_81819008 | 81817587 | C | CCCCCTGC others(21): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 408 | 0.0025 | 28 | c.*38 others(39): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 3580 | chr17 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54905608 | A | ATCTCTCT others(21): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 |
2 | 346 | 0.0058 | 28 | c.-29 others(39): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2783 | chr14 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10534139 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03130.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0249 a0001c0001t0002g0151 a0001c0001t0005g0213 |
3 | 324 | 0.0093 | 28 | c.925 others(45): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10569235 | C | CCACACAC others(21): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01975.hp1 HG01993.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0059 others(12): Show |
15 | 324 | 0.0463 | 28 | c.925 others(47): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10569235 | C | CCACACAC others(21): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01975.hp1 HG01993.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0116 others(13): Show |
16 | 344 | 0.0465 | 28 | c.919 others(47): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610507 | C | CTCCTTCC others(21): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG02451.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0003g0001 others(3): Show |
9 | 428 | 0.0210 | 28 | c.-17 others(39): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1275 | chr15 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59610960 | T | TCCCCTCC others(21): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 428 | 0.0023 | 28 | c.-12 others(39): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 822 | chr15 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59611018 | C | CCTCCCCT others(21): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 428 | 0.0023 | 28 | c.-12 others(39): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 764 | chr15 | TogoVar | |||||||
GCSH_chr16_81076945_81101395 | 81080667 | A | ATTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG02602.hp1 HG03710.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0144 a0002c0002t0002g0002 a0002c0002t0002g0028 others(1): Show |
8 | 354 | 0.0226 | 28 | c.*21 others(39): Show |
GCSH | ENSG00000140905.11 | transcript | ENST00000315467.9 | protein_coding | 1277 | chr16 | TogoVar | |||||||
GDAP1L1_chr20_44242308_44285947 | 44276355 | A | AAAGGAAG others(21): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG02735.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0067 others(5): Show |
8 | 392 | 0.0204 | 28 | c.761 others(45): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GDAP1L1_chr20_44242308_44285947 | 44276412 | A | AAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18747.hp2 NA18948.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0010 a0001c0001t0001g0149 a0001c0001t0001g0177 others(4): Show |
8 | 392 | 0.0204 | 28 | c.761 others(45): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GDAP1L1_chr20_44242308_44285947 | 44281669 | T | TACACACA others(21): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 392 | 0.0026 | 28 | c.*23 others(39): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 723 | chr20 | TogoVar | |||||||
GDA_chr9_72144440_72257224 | 72198846 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0250 a0001c0001t0002g0146 a0001c0001t0002g0213 others(1): Show |
4 | 312 | 0.0128 | 28 | c.212 others(45): Show |
GDA | ENSG00000119125.17 | transcript | ENST00000358399.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GDF2_chr10_47317454_47332588 | 47328379 | T | TGTGTGTG others(21): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0001 a0001c0001t0026g0015 |
2 | 424 | 0.0047 | 28 | c.*25 others(39): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 792 | chr10 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47329001 | G | GGGGGTGA others(21): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0017 | 1 | 424 | 0.0024 | 28 | c.*32 others(39): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1414 | chr10 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47329459 | A | ACTGGGGT others(21): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 424 | 0.0024 | 28 | c.*36 others(39): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1872 | chr10 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7698933 | T | TAAATAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 468 | 0.0021 | 28 | c.-32 others(39): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 3159 | chr12 | TogoVar | |||||||
GDF5_chr20_35428347_35443228 | 35438853 | G | GTGTGTGT others(21): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 28 | c.-92 others(37): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 626 | chr20 | TogoVar | |||||||
GDF7_chr2_20662144_20684243 | 20663249 | T | TAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01175.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0196a0001c0001t0218a0001c0001t0219others(2): Show | a0001c0001t0196g0001 a0001c0001t0218g0001 a0001c0001t0219g0001 others(2): Show |
5 | 442 | 0.0113 | 28 | c.-39 others(39): Show |
GDF7 | ENSG00000143869.7 | transcript | ENST00000272224.5 | protein_coding | 3894 | chr2 | TogoVar | |||||||
GDI1_chrX_154432154_154448467 | 154442194 | A | ACCACGGA others(21): Show |
frameshift_variant others(1): Show |
HIGH | NA19006.hp1 | a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0024 | 1 | 283 | 0.0035 | 28 | c.109 others(37): Show |
p.Glu others(5): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 9/11 | 1201/2240 | 1100/1344 | 367/447 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
GEMIN2_chr14_39109323_39141973 | 39123708 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 424 | 0.0024 | 28 | c.486 others(45): Show |
GEMIN2 | ENSG00000092208.19 | transcript | ENST00000308317.12 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GEN1_chr2_17749138_17793946 | 17778229 | T | TATATGTG others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02886.hp2 HG02965.hp1 others(1): Show |
a0009a0015 | a0009c0008a0015c0013 | a0009c0008t0012a0015c0013t0012 | a0009c0008t0012g0104 a0009c0008t0012g0105 a0009c0008t0012g0106 others(1): Show |
4 | 318 | 0.0126 | 28 | c.126 others(45): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GEN1_chr2_17749138_17793946 | 17778347 | C | CATGTGTG others(21): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0093 | 1 | 318 | 0.0031 | 28 | c.126 others(45): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GEN1_chr2_17749138_17793946 | 17778371 | C | CACGCACA others(21): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 |
a0009 | a0009c0008 | a0009c0008t0016 | a0009c0008t0016g0033 | 2 | 318 | 0.0063 | 28 | c.126 others(45): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13409088 | G | GGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0002 | 1 | 230 | 0.0044 | 28 | c.254 others(47): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13409140 | A | AGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02630.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0057a0001c0001t0100 | a0001c0001t0006g0051 a0001c0001t0057g0064 a0001c0001t0100g0116 |
3 | 230 | 0.0130 | 28 | c.254 others(47): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD1_chr6_13352830_13492600 | 13409215 | G | GAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02886.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0090a0001c0001t0121 | a0001c0001t0076g0149 a0001c0001t0090g0057 a0001c0001t0121g0171 |
3 | 230 | 0.0130 | 28 | c.254 others(47): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | |||||||
GFOD2_chr16_67669536_67724316 | 67717790 | C | CGATAGAT others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 NA19043.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 |
3 | 186 | 0.0161 | 28 | c.-88 others(45): Show |
GFOD2 | ENSG00000141098.13 | transcript | ENST00000268797.12 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0241 | 1 | 412 | 0.0024 | 28 | c.*41 others(39): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 412 | 0.0024 | 28 | c.*41 others(39): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0165 | 1 | 412 | 0.0024 | 28 | c.*41 others(39): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar |