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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNG7_chr19_2506219_2707694 | 2525971 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0104 | 1 | 34 | 0.0294 | 25 | c.-37 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2639734 | A | AGAAGGAG others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(130): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0082 others(130): Show |
133 | 202 | 0.6584 | 25 | c.-78 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2655859 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0016 | 1 | 189 | 0.0053 | 25 | c.-13 others(44): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2661302 | G | GAAAGAAA others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0186 | 1 | 79 | 0.0127 | 25 | c.-13 others(46): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNL3L_chrX_54525219_54572289 | 54563702 | C | CTTGAGCC others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0048a0001c0001t0049others(1): Show | a0001c0001t0036g0035 a0001c0001t0048g0037 a0001c0001t0049g0036 others(1): Show |
4 | 275 | 0.0145 | 25 | c.*31 others(36): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 16/16 | 3133 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GNPDA1_chr5_141995671_142018027 | 142014669 | A | ATGGAGTC others(18): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(209): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(91): Show |
212 | 415 | 0.5108 | 25 | c.-16 others(36): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 1643 | chr5 | TogoVar | |||||||
GNPDA1_chr5_141995671_142018027 | 142014679 | G | GCTCTGTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0101 others(5): Show |
8 | 422 | 0.0190 | 25 | c.-16 others(36): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 1653 | chr5 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101824433 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG02698.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0003t0003others(1): Show | a0001c0001t0003g0247 a0001c0001t0006g0252 a0001c0003t0003g0135 others(6): Show |
9 | 291 | 0.0309 | 25 | c.117 others(42): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132767615 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0205 | 1 | 15 | 0.0667 | 25 | c.*54 others(36): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 1298 | chr12 | TogoVar | |||||||
GOLGA4_chr3_37238271_37371879 | 37362780 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 139 | 0.0072 | 25 | c.*33 others(42): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GOLGA7_chr8_41485582_41515980 | 41513356 | C | CGCACCCG others(18): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 348 | 0.0029 | 25 | c.*37 others(36): Show |
GOLGA7 | ENSG00000147533.19 | transcript | ENST00000357743.9 | protein_coding | 2377 | chr8 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34375595 | T | TATATATA others(18): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 164 | 0.0061 | 25 | c.*58 others(36): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 3472 | chr15 | TogoVar | |||||||
GOLGA8N_chr15_32588456_32612237 | 32608181 | T | TTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0051 | a0051c0040 | a0051c0040t0027 | a0051c0040t0027g0161 | 1 | 286 | 0.0035 | 25 | c.*42 others(36): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 945 | chr15 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86088457 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18968.hp2 NA18973.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0054 a0001c0003t0002g0097 a0001c0004t0002g0078 |
3 | 305 | 0.0098 | 25 | c.-21 others(42): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
GON4L_chr1_155744659_155862214 | 155786944 | C | CGGAGTCT others(18): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02615.hp1 others(11): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0035 others(11): Show |
14 | 216 | 0.0648 | 25 | c.174 others(44): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 12/31 | chr1 | TogoVar | |||||||
GON4L_chr1_155744659_155862214 | 155809514 | T | TAATTATA others(18): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 216 | 0.0046 | 25 | c.145 others(44): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | |||||||
GON4L_chr1_155744659_155862214 | 155809542 | T | TTATATAC others(18): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG03098.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0003c0004t0003 | a0001c0001t0005g0019 a0003c0004t0003g0179 a0003c0004t0003g0180 others(3): Show |
6 | 209 | 0.0287 | 25 | c.145 others(44): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | |||||||
GOSR2_chr17_46918160_46947020 | 46933631 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03017.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0119 a0001c0001t0010g0036 |
3 | 75 | 0.0400 | 25 | c.337 others(42): Show |
GOSR2 | ENSG00000108433.17 | transcript | ENST00000640051.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GPAT4_chr8_41573200_41630001 | 41574454 | A | ATTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 NA19012.hp2 NA19074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 a0001c0001t0005g0023 a0001c0001t0005g0024 others(1): Show |
5 | 190 | 0.0263 | 25 | c.-46 others(36): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 3745 | chr8 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 106 | 0.0094 | 25 | c.46- others(40): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03654.hp2 NA19077.hp2 |
a0001a0003 | a0001c0002a0001c0004a0003c0006 | a0001c0002t0001a0001c0004t0001a0003c0006t0001 | a0001c0002t0001g0228 a0001c0004t0001g0239 a0003c0006t0001g0245 |
3 | 108 | 0.0278 | 25 | c.46- others(40): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0288 | 1 | 106 | 0.0094 | 25 | c.46- others(40): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0280 | 1 | 106 | 0.0094 | 25 | c.46- others(40): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPBP1_chr5_57169059_57269673 | 57229941 | G | GCGTCCCG others(18): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01934.hp2 HG02055.hp1 others(16): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0015others(2): Show | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(16): Show |
19 | 76 | 0.2500 | 25 | c.64- others(38): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPC3_chrX_133530745_133990594 | 133842362 | A | ATATATTA others(18): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02717.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0065 a0001c0001t0001g0120 a0001c0001t0001g0122 others(1): Show |
4 | 139 | 0.0288 | 25 | c.338 others(44): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 2/7 | chrX | TogoVar | |||||||
GPC4_chrX_133295103_133420489 | 133350896 | C | CTCCCCAT others(18): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 219 | 0.0046 | 25 | c.161 others(44): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 1/8 | chrX | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 91621761 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02922.hp1 HG03579.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0002 | a0001c0001t0001g0033 a0001c0001t0002g0009 a0001c0001t0002g0014 others(2): Show |
5 | 16 | 0.3125 | 25 | c.326 others(44): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92031736 | T | TTATATAT others(18): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 42 | 0.0238 | 25 | c.140 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92031752 | T | TATTACAT others(18): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 11 | 0.0909 | 25 | c.140 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92031792 | T | TTATATAT others(18): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 42 | 0.0238 | 25 | c.140 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92257546 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 7 | 0.1429 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92398428 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0035 | 1 | 7 | 0.1429 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92421698 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 3 | 0.3333 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92692754 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0006 a0003c0003t0001g0001 |
2 | 11 | 0.1818 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92704864 | G | GTATATAT others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 41 | 0.0244 | 25 | c.156 others(48): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93995161 | C | CTATTTTA others(18): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0057 | 1 | 20 | 0.0500 | 25 | c.712 others(44): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPCPD1_chr20_5539439_5616006 | 5540505 | T | TTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0296 | 1 | 384 | 0.0026 | 25 | c.*71 others(36): Show |
GPCPD1 | ENSG00000125772.14 | transcript | ENST00000379019.7 | protein_coding | 3933 | chr20 | TogoVar | |||||||
GPCPD1_chr20_5539439_5616006 | 5568230 | G | GTATATAT others(18): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 251 | 0.0040 | 25 | c.115 others(42): Show |
GPCPD1 | ENSG00000125772.14 | transcript | ENST00000379019.7 | protein_coding | 12/19 | chr20 | TogoVar | |||||||
GPD1L_chr3_32101620_32173709 | 32165387 | T | TTTGTGGT others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(223): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(203): Show |
226 | 358 | 0.6313 | 25 | c.960 others(40): Show |
GPD1L | ENSG00000152642.11 | transcript | ENST00000282541.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GPD1_chr12_50099008_50116313 | 50112907 | C | CGTTATGT others(18): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA18981.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
3 | 20 | 0.1500 | 25 | c.*33 others(36): Show |
GPD1 | ENSG00000167588.13 | transcript | ENST00000301149.8 | protein_coding | 1595 | chr12 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 66 | 0.0152 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0202 |
2 | 67 | 0.0299 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0174 |
3 | 68 | 0.0441 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0029 a0001c0001t0001g0140 a0001c0001t0001g0141 others(10): Show |
13 | 78 | 0.1667 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 67070715 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19066.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0010g0207 |
3 | 68 | 0.0441 | 25 | c.114 others(46): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218132 | A | ACCCCCAC others(18): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 73 | 0.0137 | 25 | c.*26 others(36): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 963 | chr8 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218216 | A | ACCCACAA others(18): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02965.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 3 | 95 | 0.0316 | 25 | c.*26 others(36): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1047 | chr8 | TogoVar | |||||||
GPKOW_chrX_49108407_49128735 | 49126981 | T | TATATATA others(18): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG01346.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
5 | 274 | 0.0182 | 25 | c.-32 others(36): Show |
GPKOW | ENSG00000068394.11 | transcript | ENST00000156109.7 | protein_coding | 3247 | chrX | TogoVar | |||||||
GPM6B_chrX_13765939_13822093 | 13787041 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0098 | 1 | 157 | 0.0064 | 25 | c.182 others(42): Show |
GPM6B | ENSG00000046653.15 | transcript | ENST00000316715.9 | protein_coding | 2/7 | chrX | TogoVar | |||||||
GPN3_chr12_110447486_110473257 | 110450831 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 12 | 0.0833 | 25 | c.*22 others(36): Show |
GPN3 | ENSG00000111231.9 | transcript | ENST00000228827.8 | protein_coding | 1654 | chr12 | TogoVar |