view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC4_chr7_133248078_134070761 | 133810591 | C | CTTTATTT others(23): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02723.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0065 a0001c0002t0006g0096 |
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 | a0001c0002t0001g0063 a0001c0002t0001g0101 |
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 | a0001c0001t0003g0004 a0001c0005t0007g0025 a0001c0005t0011g0043 others(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 | a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0003t0004g0094 |
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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(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 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0120 |
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 | a0001c0001t0001g0034 a0001c0001t0001g0094 a0001c0001t0001g0149 others(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 | a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0002t0001g0004 others(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 | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 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 | ||||||
EYA3_chr1_27965344_28093610 | 28073103 | T | TTCTATAT others(23): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 392 | 0.0026 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02896.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0004g0348 a0001c0001t0008g0199 a0001c0001t0009g0093 others(2): Show |
5 | 392 | 0.0128 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 392 | 0.0026 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18906.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0027 |
3 | 392 | 0.0077 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 392 | 0.0026 | 30 | c.-68 others(49): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133273097 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 264 | 0.0038 | 30 | c.-65 others(47): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133273097 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0097 | 1 | 264 | 0.0038 | 30 | c.-65 others(47): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64531549 | G | GTTTATTT others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0003 | 1 | 24 | 0.0417 | 30 | c.564 others(51): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64807999 | T | TTCCTTCC others(23): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG02896.hp2 others(1): Show |
a0002a0016a0018others(1): Show | a0002c0008a0016c0014a0018c0016others(1): Show | a0002c0008t0002a0016c0014t0001a0018c0016t0001others(1): Show | a0002c0008t0002g0020 a0016c0014t0001g0005 a0018c0016t0001g0003 others(1): Show |
4 | 24 | 0.1667 | 30 | c.344 others(49): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64864385 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0012 | 1 | 24 | 0.0417 | 30 | c.299 others(51): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 19/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65231085 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02630.hp1 HG02630.hp2 others(3): Show |
a0002a0011a0012others(3): Show | a0002c0021a0011c0001a0012c0005others(3): Show | a0002c0021t0001a0011c0001t0001a0012c0005t0001others(3): Show | a0002c0021t0001g0008 a0011c0001t0001g0013 a0012c0005t0001g0014 others(3): Show |
6 | 24 | 0.2500 | 30 | c.202 others(51): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65278031 | C | CCTTTTCT others(23): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03195.hp2 |
a0019a0021 | a0019c0023a0021c0024 | a0019c0023t0001a0021c0024t0001 | a0019c0023t0001g0010 a0021c0024t0001g0001 |
2 | 24 | 0.0833 | 30 | c.202 others(51): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65447336 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0010 | a0010c0003 | a0010c0003t0001 | a0010c0003t0001g0016 | 1 | 24 | 0.0417 | 30 | c.863 others(49): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 5/42 | chr6 | TogoVar | |||||||
EZHIP_chrX_51401948_51413843 | 51409476 | G | GGGGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01123.hp1 others(5): Show |
a0001a0003 | a0001c0002a0001c0011a0003c0004 | a0001c0002t0001a0001c0011t0001a0003c0004t0001 | a0001c0002t0001g0000 a0001c0011t0001g0000 a0003c0004t0001g0000 |
8 | 295 | 0.0271 | 30 | c.*94 others(39): Show |
EZHIP | ENSG00000187690.4 | transcript | ENST00000342995.4 | protein_coding | 634 | chrX | TogoVar | |||||||
EZHIP_chrX_51401948_51413843 | 51409476 | G | GGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 295 | 0.0034 | 30 | c.*94 others(39): Show |
EZHIP | ENSG00000187690.4 | transcript | ENST00000342995.4 | protein_coding | 634 | chrX | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113148345 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0335 | 1 | 412 | 0.0024 | 30 | c.866 others(45): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113150753 | A | AGGCAGCA others(23): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 412 | 0.0024 | 30 | c.*12 others(41): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 1225 | chr13 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6210324 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | NA18964.hp1 NA18977.hp2 NA21309.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0002 | a0001c0001t0001g0052 a0001c0001t0001g0063 a0005c0005t0002g0146 |
3 | 292 | 0.0103 | 30 | c.111 others(51): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 8/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6311614 | T | TATATAAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(215): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0021others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(214): Show |
218 | 292 | 0.7466 | 30 | c.131 others(47): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
F5_chr1_169506951_169591481 | 169556425 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG02896.hp1 others(3): Show |
a0003a0004a0005others(3): Show | a0003c0018a0004c0007a0005c0011others(3): Show | a0003c0018t0003a0004c0007t0003a0005c0011t0001others(3): Show | a0003c0018t0003g0026 a0004c0007t0003g0022 a0005c0011t0001g0020 others(3): Show |
6 | 306 | 0.0196 | 30 | c.952 others(45): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113105036 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0072 | 1 | 400 | 0.0025 | 30 | c.-80 others(39): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 754 | chr13 | TogoVar | |||||||
FAAH2_chrX_57281706_57494193 | 57306994 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02027.hp1 HG02040.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0026 others(9): Show |
12 | 282 | 0.0426 | 30 | c.276 others(47): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61861353 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18906.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0231 a0001c0001t0001g0234 |
3 | 280 | 0.0107 | 30 | c.883 others(47): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |