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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC6B_chr2_72170984_72831033 | 72823472 | AAAAAAAC others(7): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 104 | 0.0096 | -14 | c.113 others(31): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92859820 | CATGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02300.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0287a0001c0001t0004g0156a0001c0001t0004g0158others(2): Show | 5 | 288 | 0.0174 | -14 | c.101 others(33): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896179 | ATATTTTT others(7): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG01981.hp1 HG02004.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0003 | a0001c0001t0001a0001c0009t0001a0003c0003t0003 | a0001c0001t0001g0001a0001c0001t0001g0067a0001c0001t0001g0068others(10): Show | 13 | 288 | 0.0451 | -14 | c.412 others(31): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92896181 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp2 HG01943.hp2 others(17): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0052a0001c0001t0001g0059others(17): Show | 20 | 288 | 0.0694 | -14 | c.412 others(31): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92911901 | TTCTCTCT others(7): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 288 | 0.0035 | -14 | c.663 others(31): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 93060062 | ACAAGAGT others(7): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(106): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0004a0004c0005others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0002a0001c0001t0002g0014a0001c0001t0002g0075others(106): Show | 109 | 288 | 0.3785 | -14 | c.*17 others(25): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 573 | chr10 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76097703 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02572.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0008 | a0001c0001t0013g0078a0001c0002t0008g0272a0001c0002t0008g0273 | 3 | 366 | 0.0082 | -14 | c.640 others(27): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 5/18 | chr17 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76102417 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0008a0001c0002t0010others(1): Show | a0001c0002t0006g0269a0001c0002t0008g0271a0001c0002t0008g0272others(5): Show | 8 | 366 | 0.0219 | -14 | c.127 others(29): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 2/18 | chr17 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38492731 | TACACACA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0188 | 2 | 412 | 0.0049 | -14 | c.-36 others(25): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3608 | chr3 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38492791 | CACACACA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02129.hp2 HG03239.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0018others(3): Show | 7 | 412 | 0.0170 | -14 | c.-35 others(25): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3548 | chr3 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38527651 | CCGCTTCA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 412 | 0.0024 | -14 | c.*32 others(25): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 1349 | chr3 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11080559 | AAAAAACA others(7): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02004.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0258a0001c0003t0002g0259 | 2 | 284 | 0.0070 | -14 | c.158 others(29): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11080561 | AAAACACA others(7): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00673.hp1 others(32): Show |
a0001a0005 | a0001c0003a0001c0022a0001c0023others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0022t0001others(2): Show | a0001c0003t0001g0224a0001c0003t0001g0226a0001c0003t0001g0227others(31): Show | 35 | 284 | 0.1232 | -14 | c.158 others(29): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11080592 | ACACACAC others(7): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0254 | 1 | 284 | 0.0035 | -14 | c.158 others(29): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
EXOSC1_chr10_97430909_97451006 | 97445388 | GGTGGAGA others(7): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 430 | 0.0023 | -14 | c.147 others(29): Show |
EXOSC1 | ENSG00000171311.13 | transcript | ENST00000370902.8 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
EXOSC7_chr3_44971244_45016471 | 44994856 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | NA19030.hp1 NA20905.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0244a0003c0003t0001g0045 | 2 | 340 | 0.0059 | -14 | c.255 others(31): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EXPH5_chr11_108500435_108598768 | 108532358 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 HG01258.hp2 others(1): Show |
a0012a0014 | a0012c0012a0014c0017 | a0012c0012t0023a0012c0012t0046a0014c0017t0016 | a0012c0012t0023g0197a0012c0012t0023g0198a0012c0012t0046g0196others(1): Show | 4 | 314 | 0.0127 | -14 | c.444 others(31): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108573184 | GAAAGAAA others(7): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0029 | 1 | 314 | 0.0032 | -14 | c.119 others(33): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117827784 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0033a0001c0001t0035others(2): Show | a0001c0001t0015g0089a0001c0001t0033g0015a0001c0001t0035g0017others(2): Show | 5 | 190 | 0.0263 | -14 | c.128 others(33): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 4/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117829569 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01943.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0028a0001c0001t0002g0053a0001c0001t0002g0105others(26): Show | 30 | 190 | 0.1579 | -14 | c.128 others(31): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 4/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117887809 | GGCACGGT others(7): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 190 | 0.0053 | -14 | c.963 others(33): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118027313 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 NA18983.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0047a0001c0002t0002a0001c0002t0048 | a0001c0001t0047g0127a0001c0002t0002g0103a0001c0002t0048g0031 | 3 | 190 | 0.0158 | -14 | c.962 others(33): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118070226 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01081.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0005g0026others(9): Show | 12 | 190 | 0.0632 | -14 | c.962 others(33): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118113683 | CTCTCTCT others(7): Show |
C | upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0070 | 1 | 190 | 0.0053 | -14 | c.-26 others(25): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1858 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118113687 | CTCTCTCT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02129.hp1 HG02572.hp2 HG02630.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0063a0001c0002t0028a0001c0002t0036 | a0001c0001t0063g0170a0001c0002t0028g0010a0001c0002t0036g0018 | 3 | 190 | 0.0158 | -14 | c.-26 others(25): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1862 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118113689 | CTCTCTCT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0007 | 1 | 190 | 0.0053 | -14 | c.-26 others(25): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1864 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118113693 | CTCTATAT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0004 | 1 | 190 | 0.0053 | -14 | c.-26 others(25): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1868 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118113695 | CTATATAT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0005 | 1 | 190 | 0.0053 | -14 | c.-26 others(25): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119124 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG02622.hp1 HG02630.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0010 | a0001c0001t0007a0001c0001t0010a0001c0001t0014others(2): Show | a0001c0001t0007g0256a0001c0001t0010g0308a0001c0001t0014g0001others(3): Show | 7 | 334 | 0.0210 | -14 | c.743 others(31): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EYA1_chr8_71192433_71367069 | 71272874 | TTATTTTC others(7): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(43): Show |
a0001a0003 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0002a0001c0004t0001a0001c0004t0004others(6): Show | a0001c0003t0002g0185a0001c0004t0001g0073a0001c0004t0001g0074others(43): Show | 46 | 232 | 0.1983 | -14 | c.827 others(29): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 9/17 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71331245 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(15): Show | a0001c0001t0001g0011a0001c0001t0001g0060a0001c0001t0001g0090others(74): Show | 77 | 232 | 0.3319 | -14 | c.202 others(31): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71364939 | CATATATA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00621.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0128others(36): Show | 39 | 232 | 0.1681 | -14 | c.-33 others(25): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 2871 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46908870 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0002g0042a0001c0001t0003g0041a0001c0001t0003g0053others(10): Show | 13 | 238 | 0.0546 | -14 | c.-11 others(33): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46987954 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0233 | 1 | 238 | 0.0042 | -14 | c.-10 others(31): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47084537 | AAAAAATA others(7): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0085 | 1 | 238 | 0.0042 | -14 | c.662 others(31): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47112862 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02976.hp2 HG03139.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0220a0001c0001t0001g0237a0001c0002t0001g0026others(8): Show | 11 | 238 | 0.0462 | -14 | c.888 others(33): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47135840 | AACAAACA others(7): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 238 | 0.0042 | -14 | c.889 others(31): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47156089 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 238 | 0.0042 | -14 | c.978 others(33): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47156123 | CACACATA others(7): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0006 | 1 | 238 | 0.0042 | -14 | c.978 others(33): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47156127 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 238 | 0.0042 | -14 | c.979 others(33): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47185276 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0110 | 1 | 238 | 0.0042 | -14 | c.153 others(33): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA3_chr1_27965344_28093610 | 27971596 | CAACAACA others(7): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0390 | 1 | 392 | 0.0026 | -14 | c.*28 others(25): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 18/18 | 2856 | chr1 | TogoVar | |||||
EYA3_chr1_27965344_28093610 | 28007698 | TAGCATCA others(7): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0298a0001c0001t0015g0299a0001c0001t0015g0300 | 3 | 392 | 0.0077 | -14 | c.909 others(31): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 10/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28020667 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0382 | 1 | 392 | 0.0026 | -14 | c.500 others(31): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 7/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084583 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01516.hp1 HG01517.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0095a0001c0001t0002g0096a0001c0001t0002g0238others(12): Show | 15 | 392 | 0.0383 | -14 | c.-69 others(31): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084585 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG02080.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009 | a0001c0001t0002g0256a0001c0001t0002g0257a0001c0001t0002g0258others(2): Show | 5 | 392 | 0.0128 | -14 | c.-69 others(31): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084587 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01515.hp2 HG01981.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0262a0001c0001t0002g0264a0001c0001t0002g0265others(1): Show | 4 | 392 | 0.0102 | -14 | c.-69 others(31): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133252942 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02615.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0001c0001t0013a0002c0002t0003others(2): Show | a0001c0001t0012g0177a0001c0001t0012g0178a0001c0001t0013g0115others(5): Show | 8 | 264 | 0.0303 | -14 | c.-66 others(33): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133356746 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00558.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0191a0001c0001t0001g0194a0001c0001t0001g0206others(24): Show | 27 | 264 | 0.1023 | -14 | c.34- others(31): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133394282 | GTGTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(87): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0032others(87): Show | 90 | 264 | 0.3409 | -14 | c.83+ others(31): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |