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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXD2_chr14_69186498_69249018 | 69206455 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02735.hp1 HG03017.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033a0001c0003t0001g0040 | 2 | 234 | 0.0086 | -11 | c.-48 others(28): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137330099 | CCACAGGA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(42): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0002a0003c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(20): Show | a0001c0001t0001g0010a0001c0001t0001g0042a0001c0001t0001g0044others(42): Show | 45 | 82 | 0.5488 | -11 | c.199 others(30): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137330472 | AAGGAGCT others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0019 | a0019c0019 | a0019c0019t0001 | a0019c0019t0001g0022 | 1 | 82 | 0.0122 | -11 | c.199 others(30): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137343575 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02896.hp1 |
a0002a0008a0018 | a0002c0002a0008c0020a0018c0022 | a0002c0002t0001a0008c0020t0001a0018c0022t0001 | a0002c0002t0001g0036a0008c0020t0001g0005a0018c0022t0001g0038 | 3 | 82 | 0.0366 | -11 | c.199 others(30): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
EXOC1_chr4_55848648_55910086 | 55857168 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0089 | 1 | 376 | 0.0027 | -11 | c.-10 others(28): Show |
EXOC1 | ENSG00000090989.18 | transcript | ENST00000381295.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EXOC2_chr6_480154_698139 | 501358 | ATTATATA others(4): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0116 | 1 | 272 | 0.0037 | -11 | c.238 others(30): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 579970 | ACAATATG others(4): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(52): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0086a0001c0001t0001g0092a0001c0001t0001g0100others(52): Show | 55 | 272 | 0.2022 | -11 | c.119 others(30): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 11/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 616646 | AAGCTGCA others(4): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0149 | 1 | 272 | 0.0037 | -11 | c.661 others(28): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 6/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 627243 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0194 | 1 | 272 | 0.0037 | -11 | c.422 others(28): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 4/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 654803 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01975.hp2 NA18946.hp2 NA18992.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0110a0001c0001t0005g0088a0001c0002t0001g0099 | 3 | 272 | 0.0110 | -11 | c.-43 others(30): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 673252 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 272 | 0.0037 | -11 | c.-44 others(30): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | ||||||
EXOC3L2_chr19_45207370_45250407 | 45236465 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp1 HG03540.hp1 |
a0002 | a0002c0008 | a0002c0008t0001a0002c0008t0002 | a0002c0008t0001g0140a0002c0008t0002g0139a0002c0008t0002g0309 | 3 | 356 | 0.0084 | -11 | c.524 others(28): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 2/11 | chr19 | TogoVar | ||||||
EXOC3_chr5_438176_472290 | 441497 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0137 | 2 | 418 | 0.0048 | -11 | c.-18 others(22): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133331461 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 102 | 0.0098 | -11 | c.763 others(30): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133604706 | CTTTCTTT others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 102 | 0.0098 | -11 | c.141 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133737899 | ATTTTTCT others(4): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0043 | 1 | 102 | 0.0098 | -11 | c.151 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133755243 | AATATATA others(4): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01261.hp2 HG02055.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0007a0001c0005t0011others(1): Show | a0001c0001t0003g0004a0001c0001t0003g0070a0001c0005t0007g0025others(2): Show | 5 | 102 | 0.0490 | -11 | c.151 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133777284 | AGAGAGAG others(4): Show |
A | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 102 | 0.0098 | -11 | c.151 others(32): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 134067149 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0008a0001c0001t0001g0027a0001c0001t0001g0052others(53): Show | 56 | 102 | 0.5490 | -11 | c.*26 others(22): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 1389 | chr7 | TogoVar | ||||||
EXOC5_chr14_57195507_57273905 | 57263739 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG02615.hp2 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0048a0001c0002t0017g0049 | 2 | 214 | 0.0094 | -11 | c.27+ others(26): Show |
EXOC5 | ENSG00000070367.17 | transcript | ENST00000621441.5 | protein_coding | 1/17 | chr14 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72204364 | CTCTGCTT others(4): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 104 | 0.0096 | -11 | c.219 others(32): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72823475 | AAAACAAA others(4): Show |
A | intron_variant | MODIFIER | HG03130.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0060a0001c0001t0011g0028 | 2 | 104 | 0.0192 | -11 | c.113 others(28): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896171 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0279 | 1 | 288 | 0.0035 | -11 | c.412 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92896173 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0278 | 1 | 288 | 0.0035 | -11 | c.412 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92896177 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0281 | 1 | 288 | 0.0035 | -11 | c.412 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92896181 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 288 | 0.0035 | -11 | c.412 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92931115 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG02258.hp1 HG02300.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0092a0001c0001t0001g0094a0001c0001t0002g0287others(4): Show | 7 | 288 | 0.0243 | -11 | c.972 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC7_chr17_76076016_76108787 | 76078147 | GTTTTTTT others(4): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 366 | 0.0027 | -11 | c.*54 others(22): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 2868 | chr17 | TogoVar | ||||||
EXOSC3_chr9_37774714_37790064 | 37777194 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0020a0001c0001t0003g0007a0001c0001t0003g0010others(2): Show | 7 | 432 | 0.0162 | -11 | c.*34 others(22): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 2519 | chr9 | TogoVar | ||||||
EXOSC5_chr19_41381374_41402359 | 41382945 | AGGGGACT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00738.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(10): Show | 31 | 396 | 0.0783 | -11 | c.*36 others(22): Show |
EXOSC5 | ENSG00000077348.10 | transcript | ENST00000221233.9 | protein_coding | 3428 | chr19 | TogoVar | ||||||
EXOSC6_chr16_70241778_70256940 | 70248771 | CTTTTTTT others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0000 | 1 | 420 | 0.0024 | -11 | c.*23 others(22): Show |
EXOSC6 | ENSG00000223496.3 | transcript | ENST00000435634.3 | protein_coding | 1/1 | 2300 | chr16 | TogoVar | |||||
EXOSC8_chr13_36995786_37014614 | 37005862 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 390 | 0.0026 | -11 | c.239 others(24): Show |
EXOSC8 | ENSG00000120699.14 | transcript | ENST00000389704.4 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
EXPH5_chr11_108500435_108598768 | 108532353 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | NA18992.hp1 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0008 | 1 | 314 | 0.0032 | -11 | c.444 others(28): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532355 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG02004.hp1 HG02083.hp1 others(16): Show |
a0004a0006a0009others(2): Show | a0004c0004a0006c0006a0009c0010others(2): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0018others(7): Show | a0004c0004t0001g0010a0004c0004t0001g0014a0004c0004t0001g0015others(16): Show | 19 | 314 | 0.0605 | -11 | c.444 others(28): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532356 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02738.hp1 NA19062.hp1 |
a0006a0009 | a0006c0006a0009c0023 | a0006c0006t0002a0009c0023t0001 | a0006c0006t0002g0282a0009c0023t0001g0163 | 2 | 314 | 0.0064 | -11 | c.444 others(28): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532358 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA18980.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0255 | 1 | 314 | 0.0032 | -11 | c.444 others(28): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108532366 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0031 | a0031c0030 | a0031c0030t0036 | a0031c0030t0036g0093 | 1 | 314 | 0.0032 | -11 | c.444 others(28): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117858814 | AAGGAAGG others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0013a0001c0004t0015a0001c0004t0060 | a0001c0004t0013g0004a0001c0004t0013g0005a0001c0004t0015g0158others(1): Show | 4 | 190 | 0.0211 | -11 | c.963 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117863430 | ATGTTTGT others(4): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01943.hp2 HG01952.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0028a0001c0001t0002g0053a0001c0001t0002g0105others(16): Show | 20 | 190 | 0.1053 | -11 | c.963 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117914177 | GGAGCCTC others(4): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0020 | 1 | 190 | 0.0053 | -11 | c.963 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44206572 | GTGTATAT others(4): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02970.hp2 |
a0001 | a0001c0009 | a0001c0009t0027 | a0001c0009t0027g0306a0001c0009t0027g0307 | 2 | 334 | 0.0060 | -11 | c.149 others(28): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EXT2_chr11_44090678_44256962 | 44239689 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00738.hp2 others(39): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0006 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(8): Show | a0001c0001t0005g0017a0001c0001t0005g0061a0001c0001t0005g0063others(38): Show | 42 | 334 | 0.1258 | -11 | c.201 others(30): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EXTL2_chr1_100867391_100899842 | 100898356 | TTATTTTT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 410 | 0.0024 | -11 | c.-38 others(22): Show |
EXTL2 | ENSG00000162694.14 | transcript | ENST00000370114.8 | protein_coding | 3515 | chr1 | TogoVar | ||||||
EXTL3_chr8_28696501_28760599 | 28729595 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0300 | 1 | 380 | 0.0026 | -11 | c.214 others(30): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EYA1_chr8_71192433_71367069 | 71226967 | AGTGCAAA others(4): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0028 | 1 | 232 | 0.0043 | -11 | c.114 others(30): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 12/17 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71364948 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0094 | 1 | 232 | 0.0043 | -11 | c.-33 others(22): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 2880 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46908870 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138a0001c0001t0002g0124 | 2 | 238 | 0.0084 | -11 | c.-11 others(30): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47135839 | AAACAAAC others(4): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02647.hp2 HG02976.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0155a0001c0002t0001g0027a0001c0002t0001g0073others(4): Show | 7 | 238 | 0.0294 | -11 | c.889 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47149688 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 238 | 0.0042 | -11 | c.978 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47192662 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(112): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0001t0001g0030others(112): Show | 115 | 238 | 0.4832 | -11 | c.*45 others(22): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 3819 | chr20 | TogoVar |