| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ETFDH_chr4_158667296_158714623 | 158689636 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 298 | 0.0034 | 30 | c.607 others(45): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ETS1_chr11_128453765_128592558 | 128548112 | G | GAAGGAAA others(23): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01099.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0013a0001c0001t0001g0080a0001c0001t0001g0081others(36): Show | 39 | 286 | 0.1364 | 30 | c.214 others(47): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
| ETS1_chr11_128453765_128592558 | 128548127 | A | AAAGGGAA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0240a0001c0002t0008g0126 | 2 | 286 | 0.0070 | 30 | c.214 others(47): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
| ETS1_chr11_128453765_128592558 | 128548132 | A | AAAGGAAA others(23): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022 | a0001c0001t0004g0062a0001c0001t0022g0019 | 2 | 286 | 0.0070 | 30 | c.214 others(47): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
| ETS1_chr11_128453765_128592558 | 128548132 | A | AAAGGGAA others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02055.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0035a0001c0001t0004g0027a0001c0002t0001g0131others(2): Show | 5 | 286 | 0.0175 | 30 | c.214 others(47): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
| EVA1A_chr2_75487318_75565939 | 75555301 | A | ATATCTCT others(23): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0101 | 1 | 384 | 0.0026 | 30 | c.-19 others(49): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
| EVA1A_chr2_75487318_75565939 | 75555301 | A | ATCTCTCT others(23): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 384 | 0.0026 | 30 | c.-19 others(49): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
| EVA1A_chr2_75487318_75565939 | 75555336 | T | TCTCTCTC others(23): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02145.hp1 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0349a0001c0001t0002g0350a0001c0001t0002g0359others(3): Show | 6 | 384 | 0.0156 | 30 | c.-19 others(49): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
| EVA1C_chr21_32407706_32520387 | 32429046 | G | GGTCTCGC others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02486.hp1 others(10): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0024others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0024t0001others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0061a0001c0001t0001g0062others(10): Show | 13 | 346 | 0.0376 | 30 | c.160 others(49): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| EVI2A_chr17_31311410_31326622 | 31322501 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 378 | 0.0027 | 30 | c.-10 others(41): Show |
EVI2A | ENSG00000126860.12 | transcript | ENST00000462804.3 | protein_coding | 880 | chr17 | TogoVar | ||||||
| EVPLL_chr17_18372778_18394647 | 18373800 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 | 1 | 408 | 0.0025 | 30 | c.-42 others(41): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 3977 | chr17 | TogoVar | ||||||
| EVX1_chr7_27237802_27252830 | 27252583 | G | GGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 398 | 0.0025 | 30 | c.*61 others(41): Show |
EVX1 | ENSG00000106038.13 | transcript | ENST00000496902.7 | protein_coding | 4754 | chr7 | TogoVar | ||||||
| EVX2_chr2_176072472_176088962 | 176084421 | G | GTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0018 | 1 | 430 | 0.0023 | 30 | c.-64 others(39): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar | ||||||
| EVX2_chr2_176072472_176088962 | 176084733 | A | AAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 430 | 0.0023 | 30 | c.-95 others(39): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 772 | chr2 | TogoVar | ||||||
| EXD1_chr15_41177728_41235757 | 41213501 | T | TTTTTGTT others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0026a0001c0001t0004g0028 | 2 | 318 | 0.0063 | 30 | c.447 others(47): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 6/11 | chr15 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329370 | A | AGCTACAC others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0046 | 1 | 82 | 0.0122 | 30 | c.199 others(49): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329432 | A | AGCTACAC others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 | 1 | 82 | 0.0122 | 30 | c.199 others(49): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329628 | T | TACACGGG others(23): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 82 | 0.0122 | 30 | c.199 others(49): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329656 | G | GCTACACG others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0019 | a0019c0019 | a0019c0019t0001 | a0019c0019t0001g0022 | 1 | 82 | 0.0122 | 30 | c.199 others(49): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137352506 | T | TTGATTTC others(23): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0027 | 1 | 82 | 0.0122 | 30 | c.103 others(46): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 11/21 | chr9 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 501375 | A | ATTATATA others(23): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 272 | 0.0037 | 30 | c.238 others(49): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 501441 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 272 | 0.0037 | 30 | c.238 others(49): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 443220 | G | GGGCGGAG others(23): Show |
5_prime_UTR_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0086 | 1 | 418 | 0.0024 | 30 | c.-12 others(39): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2980 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| EXOC4_chr7_133248078_134070761 | 133558191 | C | CTTTTCTT others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01255.hp2 HG01261.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0003g0004a0001c0001t0003g0070a0001c0002t0001g0007others(3): Show | 6 | 102 | 0.0588 | 30 | c.141 others(51): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EXOC4_chr7_133248078_134070761 | 133810591 | C | CTTTATTT others(23): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02723.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0065a0001c0002t0006g0096 | 2 | 102 | 0.0196 | 30 | c.151 others(49): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EXOC4_chr7_133248078_134070761 | 133855094 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063a0001c0002t0001g0101 | 2 | 102 | 0.0196 | 30 | c.173 others(51): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EXOC4_chr7_133248078_134070761 | 133855118 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0007a0001c0005t0011others(1): Show | a0001c0001t0003g0004a0001c0005t0007g0025a0001c0005t0011g0043others(1): Show | 4 | 102 | 0.0392 | 30 | c.173 others(51): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EXOC4_chr7_133248078_134070761 | 133857325 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 102 | 0.0098 | 30 | c.173 others(51): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EXOC4_chr7_133248078_134070761 | 133941821 | T | TTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 1 | 102 | 0.0098 | 30 | c.220 others(49): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EXOC6B_chr2_72170984_72831033 | 72224994 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03225.hp1 NA19010.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0004 | a0001c0002t0004g0012a0001c0002t0004g0013a0001c0003t0004g0094 | 3 | 104 | 0.0289 | 30 | c.219 others(51): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
| EXOC6B_chr2_72170984_72831033 | 72224994 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0071 | 1 | 104 | 0.0096 | 30 | c.219 others(51): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
| EXOC6B_chr2_72170984_72831033 | 72353349 | G | GTTGTATT others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0071 | 1 | 104 | 0.0096 | 30 | c.212 others(51): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 19/21 | chr2 | TogoVar | ||||||
| EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(46): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(36): Show | 49 | 284 | 0.1725 | 30 | c.248 others(47): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | ||||||
| EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01515.hp1 HG01517.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0018others(9): Show | 12 | 284 | 0.0423 | 30 | c.248 others(47): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | ||||||
| EXOSC10_chr1_11061618_11104869 | 11069244 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 284 | 0.0035 | 30 | c.248 others(47): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 22/24 | chr1 | TogoVar | ||||||
| EXOSC1_chr10_97430909_97451006 | 97449861 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02976.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0120 | 4 | 430 | 0.0093 | 30 | c.-38 others(41): Show |
EXOSC1 | ENSG00000171311.13 | transcript | ENST00000370902.8 | protein_coding | 3856 | chr10 | TogoVar | ||||||
| EXPH5_chr11_108500435_108598768 | 108532366 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0021 | a0021c0020 | a0021c0020t0002 | a0021c0020t0002g0021 | 1 | 314 | 0.0032 | 30 | c.444 others(47): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
| EXPH5_chr11_108500435_108598768 | 108573168 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0048 | 1 | 314 | 0.0032 | 30 | c.119 others(49): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0010 | 1 | 190 | 0.0053 | 30 | c.963 others(49): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| EXT1_chr8_117789490_118116826 | 118073632 | A | AAGAAGAG others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0072 | 1 | 190 | 0.0053 | 30 | c.962 others(49): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTCTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0175 | 1 | 190 | 0.0053 | 30 | c.-26 others(41): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | ||||||
| EXT2_chr11_44090678_44256962 | 44119169 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0050 | 1 | 334 | 0.0030 | 30 | c.743 others(47): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| EYA2_chr20_46889843_47193844 | 46986388 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01070.hp1 others(37): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0094a0001c0001t0001g0149others(37): Show | 40 | 238 | 0.1681 | 30 | c.-10 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EYA2_chr20_46889843_47193844 | 46986392 | T | TATAATAT others(23): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 238 | 0.0042 | 30 | c.-10 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EYA2_chr20_46889843_47193844 | 46986403 | G | GATCTATA others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0155a0001c0001t0001g0164a0001c0002t0001g0004others(1): Show | 4 | 238 | 0.0168 | 30 | c.-10 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EYA2_chr20_46889843_47193844 | 46987916 | G | GACACTCT others(23): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 238 | 0.0042 | 30 | c.-10 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
| EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 238 | 0.0042 | 30 | c.-10 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0099 | 1 | 238 | 0.0042 | 30 | c.-10 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 238 | 0.0042 | 30 | c.-10 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0056 | 1 | 238 | 0.0042 | 30 | c.-10 others(47): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |