view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THEM4_chr1_151865866_151914511 | 151867588 | C | CTCCTCCT others(164): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0004 | a0004c0005 | a0004c0005t0010 | a0004c0005t0010g0027 | 1 | 374 | 0.0027 | 171 | c.*72 others(182): Show |
THEM4 | ENSG00000159445.13 | transcript | ENST00000368814.8 | protein_coding | 3277 | chr1 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161706 | C | CCCCTGTC others(164): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 388 | 0.0026 | 171 | c.*25 others(182): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2222 | chr11 | TogoVar | |||||||
TIAM2_chr6_154990315_155262723 | 155018669 | C | CCCCTCCC others(164): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0090a0001c0007t0001g0167 | 2 | 230 | 0.0087 | 171 | c.-20 others(192): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113541633 | T | TGCTGATC others(164): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 368 | 0.0027 | 171 | c.169 others(190): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113541916 | A | ATCGCTGA others(164): Show |
intron_variant | MODIFIER | HG00733.hp1 NA21309.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0115a0001c0005t0001g0116 | 2 | 368 | 0.0054 | 171 | c.169 others(190): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113541916 | A | ATCGCTGA others(164): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02602.hp2 NA18952.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0014a0001c0001t0001g0147a0001c0001t0001g0148others(3): Show | 7 | 368 | 0.0190 | 171 | c.169 others(190): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113542030 | G | ATCGCTGA others(164): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0117 | 1 | 368 | 0.0027 | 171 | c.169 others(190): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | chr13 | TogoVar | |||||||
TMCO3_chr13_113486021_113555229 | 113542346 | C | CGAGATGT others(164): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 368 | 0.0027 | 171 | c.169 others(190): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMEM184B_chr22_38214291_38278010 | 38230178 | C | CGGCTGGA others(164): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0038 | a0001c0001t0009g0076a0001c0001t0009g0077a0001c0001t0009g0223others(3): Show | 6 | 354 | 0.0170 | 171 | c.525 others(186): Show |
TMEM184B | ENSG00000198792.13 | transcript | ENST00000361906.8 | protein_coding | 5/8 | chr22 | TogoVar | |||||||
TMEM266_chr15_76054985_76209963 | 76080304 | A | ATGCAGTG others(164): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0011others(171): Show | 175 | 274 | 0.6387 | 171 | c.-12 others(192): Show |
TMEM266 | ENSG00000169758.13 | transcript | ENST00000388942.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TMEM266_chr15_76054985_76209963 | 76080304 | A | ATGCAGTG others(164): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02486.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0004g0250others(6): Show | 9 | 274 | 0.0329 | 171 | c.-12 others(192): Show |
TMEM266 | ENSG00000169758.13 | transcript | ENST00000388942.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TNFRSF18_chr1_1198508_1211592 | 1202173 | C | CGAGCCCA others(164): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 386 | 0.0026 | 171 | c.*16 others(182): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1334 | chr1 | TogoVar | |||||||
TNFRSF18_chr1_1198508_1211592 | 1202210 | C | CCCAGCCC others(164): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 NA19030.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 386 | 0.0078 | 171 | c.*16 others(182): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1297 | chr1 | TogoVar | |||||||
TNFRSF18_chr1_1198508_1211592 | 1202212 | G | GAGCCCAG others(164): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 171 | c.*16 others(182): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1295 | chr1 | TogoVar | |||||||
TNFRSF18_chr1_1198508_1211592 | 1202341 | C | CCTCCAGC others(164): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 171 | c.*15 others(182): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1166 | chr1 | TogoVar | |||||||
TNFRSF6B_chr20_63691652_63703684 | 63693576 | T | TCCACCAC others(164): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 33 | 0.0303 | 171 | c.-31 others(182): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3075 | chr20 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(164): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 174 | 0.0058 | 171 | c.41- others(188): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204294 | G | GATACTAT others(164): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03041.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0017a0002c0003others(1): Show | a0001c0001t0006a0001c0001t0072a0001c0017t0006others(2): Show | a0001c0001t0006g0088a0001c0001t0072g0142a0001c0017t0006g0164others(2): Show | 5 | 174 | 0.0287 | 171 | c.41- others(188): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTLL10_chr1_1168880_1202936 | 1202210 | C | CCCAGCCC others(164): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02970.hp2 NA19030.hp1 others(1): Show |
a0003a0008 | a0003c0005a0008c0008 | a0003c0005t0001a0008c0008t0001 | a0003c0005t0001g0292a0008c0008t0001g0004 | 4 | 382 | 0.0105 | 171 | c.*43 others(182): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4275 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1202212 | G | GAGCCCAG others(164): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0031 | 1 | 382 | 0.0026 | 171 | c.*43 others(182): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4277 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1202341 | C | CCTCCAGC others(164): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0011t0001 | a0001c0002t0001g0105a0001c0011t0001g0022a0001c0011t0001g0086others(1): Show | 4 | 382 | 0.0105 | 171 | c.*44 others(182): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4406 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1202406 | C | CCAGTACC others(164): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0021 | a0001c0021t0006 | a0001c0021t0006g0152 | 1 | 382 | 0.0026 | 171 | c.*45 others(182): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4471 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1202444 | C | CCAGTACC others(164): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0232 | 1 | 382 | 0.0026 | 171 | c.*45 others(182): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4509 | chr1 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028908 | C | CCCCATCA others(164): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 224 | 0.0045 | 171 | c.225 others(190): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52525535 | C | CAAAAAAA others(164): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00733.hp1 others(19): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0003a0004c0005t0003 | a0002c0003t0003g0168a0002c0003t0003g0169a0002c0003t0003g0170others(19): Show | 22 | 238 | 0.0924 | 171 | c.393 others(188): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
UBE2V1_chr20_50076124_50118150 | 50094219 | T | TATGCATT others(164): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01074.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0092a0001c0001t0002g0105a0001c0001t0004g0018others(5): Show | 10 | 398 | 0.0251 | 171 | c.171 others(188): Show |
UBE2V1 | ENSG00000244687.13 | transcript | ENST00000371674.8 | protein_coding | 2/3 | chr20 | TogoVar | |||||||
UGT1A10_chr2_233631448_233778300 | 233725219 | G | GGGAGAGG others(164): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 302 | 0.0033 | 171 | c.856 others(190): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A3_chr2_233724042_233778300 | 233725219 | G | GGGAGAGG others(164): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0029 | 1 | 350 | 0.0029 | 171 | c.-39 others(182): Show |
UGT1A3 | ENSG00000288702.1 | transcript | ENST00000482026.6 | protein_coding | 3822 | chr2 | TogoVar | |||||||
UGT1A4_chr2_233713736_233778300 | 233725219 | G | GGGAGAGG others(164): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 332 | 0.0030 | 171 | c.867 others(188): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A5_chr2_233707907_233778300 | 233725219 | G | GGGAGAGG others(164): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 330 | 0.0030 | 171 | c.867 others(190): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A6_chr2_233687890_233778300 | 233725219 | G | GGGAGAGG others(164): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 332 | 0.0030 | 171 | c.861 others(190): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A7_chr2_233676901_233778300 | 233725219 | G | GGGAGAGG others(164): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0185 | 1 | 320 | 0.0031 | 171 | c.856 others(190): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A8_chr2_233612633_233778300 | 233725219 | G | GGGAGAGG others(164): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0239 | 1 | 290 | 0.0035 | 171 | c.856 others(190): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UGT1A9_chr2_233666898_233778300 | 233725219 | G | GGGAGAGG others(164): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 318 | 0.0031 | 171 | c.856 others(190): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917102 | G | GTCGGGTT others(164): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 | 1 | 344 | 0.0029 | 171 | c.218 others(186): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917102 | G | GTCGGGTT others(164): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0028 | a0003c0028t0001 | a0003c0028t0001g0107 | 1 | 344 | 0.0029 | 171 | c.218 others(186): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(164): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 344 | 0.0029 | 171 | c.218 others(188): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176872345 | C | CGCCCAAC others(164): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0239 | 1 | 268 | 0.0037 | 171 | c.887 others(188): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | chr5 | TogoVar | |||||||
USP43_chr17_9640517_9734687 | 9681131 | C | CTCTATAA others(164): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0319a0001c0019t0002g0320 | 2 | 330 | 0.0061 | 171 | c.110 others(188): Show |
USP43 | ENSG00000154914.17 | transcript | ENST00000285199.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6532851 | C | CCCTCCCT others(164): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG03516.hp1 others(1): Show |
a0002a0018 | a0002c0003a0018c0027 | a0002c0003t0001a0018c0027t0001 | a0002c0003t0001g0008a0002c0003t0001g0021a0018c0027t0001g0019 | 4 | 74 | 0.0541 | 171 | c.*89 others(180): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 766 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467096 | G | GGGGAGGG others(164): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004 | 1 | 271 | 0.0037 | 171 | c.*71 others(180): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 587 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467175 | T | TGTGTGAG others(164): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01981.hp1 |
a0006 | a0006c0007a0006c0036 | a0006c0007t0002a0006c0036t0002 | a0006c0007t0002g0003a0006c0036t0002g0023 | 2 | 271 | 0.0074 | 171 | c.*79 others(180): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 666 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467308 | A | AGGGAGGG others(164): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0045 | a0002c0045t0002 | a0002c0045t0002g0006 | 1 | 271 | 0.0037 | 171 | c.*92 others(180): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 799 | chrX | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184895629 | C | CCCCCTCC others(164): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01981.hp2 HG02129.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0004c0006t0003 | a0001c0001t0002g0082a0001c0001t0002g0105a0001c0001t0002g0136others(3): Show | 6 | 274 | 0.0219 | 171 | c.200 others(188): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895629 | C | CCCCCTCC others(164): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 274 | 0.0037 | 171 | c.200 others(188): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
XPR1_chr1_180627022_180895279 | 180656475 | C | CATTATAT others(164): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0161 | 1 | 330 | 0.0030 | 171 | c.69+ others(188): Show |
XPR1 | ENSG00000143324.14 | transcript | ENST00000367590.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZC3H12B_chrX_65029826_65512887 | 65202136 | T | TTCTATAA others(164): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 165 | 0.0061 | 171 | c.-56 others(194): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZFP42_chr4_187990771_188010046 | 187992000 | G | GGGGAGAG others(164): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG02129.hp1 NA18939.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0022 | 5 | 448 | 0.0112 | 171 | c.-41 others(182): Show |
ZFP42 | ENSG00000179059.10 | transcript | ENST00000326866.5 | protein_coding | 3770 | chr4 | TogoVar | |||||||
ZFP42_chr4_187990771_188010046 | 187992046 | G | GGGGAGAG others(164): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 NA18998.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0078a0001c0001t0012g0079a0001c0001t0012g0080 | 3 | 448 | 0.0067 | 171 | c.-41 others(182): Show |
ZFP42 | ENSG00000179059.10 | transcript | ENST00000326866.5 | protein_coding | 3724 | chr4 | TogoVar | |||||||
ZNF112_chr19_44321555_44361680 | 44337362 | T | TTATATAT others(164): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 410 | 0.0024 | 171 | c.125 others(186): Show |
ZNF112 | ENSG00000062370.17 | transcript | ENST00000354340.9 | protein_coding | 2/3 | chr19 | TogoVar |