| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(840): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0001g0079others(1): Show | 4 | 344 | 0.0116 | 847 | c.617 others(864): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| FMN2_chr1_240086883_240480187 | 240185147 | T | TCCCCTTC others(840): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0058 | a0058c0074 | a0058c0074t0002 | a0058c0074t0002g0002 | 1 | 174 | 0.0058 | 847 | c.193 others(866): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79885784 | A | AGGACAGG others(840): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02132.hp2 NA18980.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040a0002c0002t0002g0069a0002c0002t0002g0094others(2): Show | 5 | 312 | 0.0160 | 847 | c.625 others(866): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LAMC1_chr1_183018420_183150592 | 183149418 | C | CCTCCTCA others(840): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0301 | 1 | 308 | 0.0033 | 847 | c.*66 others(858): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3827 | chr1 | TogoVar | ||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(840): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01256.hp2 others(4): Show |
a0001a0003a0007 | a0001c0001a0003c0006a0007c0011 | a0001c0001t0001a0003c0006t0006a0007c0011t0003others(1): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0167others(4): Show | 7 | 230 | 0.0304 | 847 | c.213 others(866): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
| MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(840): Show |
intron_variant | MODIFIER | HG04199.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0213a0001c0001t0016g0021 | 2 | 230 | 0.0087 | 847 | c.213 others(866): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGAGGGGG others(840): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114 | 1 | 163 | 0.0061 | 847 | c.525 others(864): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(840): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0031 | 1 | 272 | 0.0037 | 847 | c.250 others(862): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(840): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 272 | 0.0037 | 847 | c.250 others(862): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(840): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0204 | 1 | 208 | 0.0048 | 847 | c.279 others(862): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841443 | T | TCCCCCCG others(840): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 242 | 0.0041 | 847 | c.361 others(866): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| PASK_chr2_241101099_241154472 | 241115928 | A | ACCGGTCC others(840): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19240.hp1 |
a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0121a0008c0016t0001g0148 | 2 | 376 | 0.0053 | 847 | c.307 others(864): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(840): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0170 | 1 | 340 | 0.0029 | 847 | c.227 others(864): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| QSOX2_chr9_136201333_136250812 | 136234723 | G | GGCTTGGG others(840): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0305 | 1 | 392 | 0.0026 | 847 | c.329 others(864): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(840): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0124 | 1 | 220 | 0.0046 | 847 | c.24+ others(864): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3341673 | A | AGGGTGGA others(840): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0152 | 1 | 312 | 0.0032 | 847 | c.188 others(866): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(840): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0000 | a0000c0021 | a0000c0021t0001 | a0000c0021t0001g0042 | 1 | 203 | 0.0049 | 847 | c.-12 others(866): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 433278 | G | GATGGCAC others(840): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0080 | 1 | 212 | 0.0047 | 847 | c.111 others(866): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(840): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0029 | a0002c0029t0005 | a0002c0029t0005g0015 | 1 | 132 | 0.0076 | 847 | c.227 others(866): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(840): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 340 | 0.0029 | 847 | c.*17 others(866): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(840): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0305 | 1 | 322 | 0.0031 | 847 | c.597 others(864): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
| STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(840): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 322 | 0.0031 | 847 | c.597 others(864): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
| STK24_chr13_98440185_98582107 | 98473275 | G | GAGAGGAA others(840): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0198 | 1 | 322 | 0.0031 | 847 | c.597 others(864): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
| TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0350 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0050 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0021 | a0021c0044 | a0021c0044t0002 | a0021c0044t0002g0381 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0011a0001c0022others(6): Show | a0001c0005t0001a0001c0011t0001a0001c0022t0001others(9): Show | a0001c0005t0001g0118a0001c0005t0001g0151a0001c0005t0001g0172others(99): Show | 102 | 398 | 0.2563 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0334 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02486.hp2 others(10): Show |
a0005a0007a0012others(2): Show | a0005c0010a0007c0021a0012c0037others(2): Show | a0005c0010t0001a0005c0010t0004a0005c0010t0007others(4): Show | a0005c0010t0001g0110a0005c0010t0001g0111a0005c0010t0001g0112others(10): Show | 13 | 398 | 0.0327 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02145.hp1 HG02647.hp1 others(3): Show |
a0002a0005 | a0002c0006a0005c0016 | a0002c0006t0002a0005c0016t0001a0005c0016t0004 | a0002c0006t0002g0165a0005c0016t0001g0177a0005c0016t0001g0246others(3): Show | 6 | 398 | 0.0151 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742665 | A | AGGCATGG others(840): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0265 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0038 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00673.hp2 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0001c0015others(15): Show | a0001c0002t0001a0001c0002t0004a0001c0005t0001others(19): Show | a0001c0002t0001g0116a0001c0002t0001g0173a0001c0002t0001g0178others(47): Show | 50 | 398 | 0.1256 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0019 | a0004c0019t0002 | a0004c0019t0002g0192 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0008 | a0008c0020 | a0008c0020t0004 | a0008c0020t0004g0079 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03209.hp1 |
a0019a0025 | a0019c0059a0025c0055 | a0019c0059t0001a0025c0055t0001 | a0019c0059t0001g0121a0025c0055t0001g0127 | 2 | 398 | 0.0050 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18947.hp2 NA18984.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255a0001c0002t0001g0287a0001c0002t0001g0290 | 3 | 398 | 0.0075 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG02258.hp2 NA20129.hp2 |
a0004 | a0004c0019 | a0004c0019t0002a0004c0019t0003 | a0004c0019t0002g0268a0004c0019t0003g0011 | 2 | 398 | 0.0050 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0029 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(29): Show |
a0001a0002 | a0001c0002a0001c0012a0001c0015others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0012t0001others(3): Show | a0001c0002t0001g0131a0001c0002t0001g0185a0001c0002t0001g0186others(29): Show | 32 | 398 | 0.0804 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146a0001c0002t0001g0382 | 2 | 398 | 0.0050 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(840): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0010 | a0005c0010t0004 | a0005c0010t0004g0084 | 1 | 398 | 0.0025 | 847 | c.184 others(866): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(840): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19074.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073a0001c0001t0001g0296a0001c0001t0002g0021 | 3 | 338 | 0.0089 | 847 | c.*35 others(866): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| VCX2_chrX_8164944_8176267 | 8169830 | C | CCCTCCCT others(840): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0006 | 1 | 115 | 0.0087 | 847 | c.*20 others(856): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 113 | chrX | TogoVar | ||||||
| ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(841): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0153 | 1 | 248 | 0.0040 | 848 | c.387 others(867): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
| ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATAAAAA others(841): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 848 | c.-10 others(859): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | ||||||
| ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(841): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 336 | 0.0030 | 848 | c.94+ others(863): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(841): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0013 | 1 | 391 | 0.0026 | 848 | c.*36 others(859): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(841): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 391 | 0.0026 | 848 | c.*36 others(859): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCC others(841): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 848 | c.*36 others(859): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar |