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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1765): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0091 | 1 | 3 | 0.3333 | 1772 | c.-12 others(1791): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1765): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0292 | 1 | 12 | 0.0833 | 1772 | c.228 others(1789): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG02647.hp1 HG06807.hp2 |
a0012 | a0012c0035 | a0012c0035t0002 | a0012c0035t0002g0241 a0012c0035t0002g0242 |
2 | 330 | 0.0061 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0118 | 1 | 329 | 0.0030 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0020 | a0020c0052 | a0020c0052t0002 | a0020c0052t0002g0253 | 1 | 329 | 0.0030 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0016 | a0016c0061 | a0016c0061t0002 | a0016c0061t0002g0317 | 1 | 329 | 0.0030 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01433.hp2 NA20805.hp2 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0113 a0001c0012t0001g0114 a0001c0012t0001g0115 |
3 | 331 | 0.0091 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 |
a0001 | a0001c0039a0001c0040 | a0001c0039t0001a0001c0040t0001 | a0001c0039t0001g0238 a0001c0040t0001g0239 |
2 | 330 | 0.0061 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02040.hp1 HG02293.hp1 |
a0001a0002 | a0001c0023a0002c0007 | a0001c0023t0001a0002c0007t0001 | a0001c0023t0001g0185 a0002c0007t0001g0326 a0002c0007t0001g0329 |
3 | 331 | 0.0091 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0327 | 1 | 329 | 0.0030 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0060 | a0001c0060t0002 | a0001c0060t0002g0293 | 1 | 329 | 0.0030 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1765): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG06807.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0156 a0001c0012t0001g0157 a0001c0012t0001g0158 |
3 | 331 | 0.0091 | 1772 | c.307 others(1789): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1765): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0012 | 1 | 126 | 0.0079 | 1772 | c.45- others(1787): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747693 | G | GCTGGGGT others(1765): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0076 | 1 | 229 | 0.0044 | 1772 | c.189 others(1787): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1765): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0017 | 1 | 50 | 0.0200 | 1772 | c.*24 others(1783): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1765): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 317 | 0.0032 | 1772 | c.114 others(1789): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591765 | G | GGTGTTGA others(1766): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0292 | 1 | 327 | 0.0031 | 1773 | c.373 others(1790): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | chr5 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958124 | T | TATAACCA others(1766): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 207 | 0.0048 | 1773 | c.724 others(1792): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1766): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0074 | 1 | 2 | 0.5000 | 1773 | c.126 others(1790): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAM151B_chr5_80483100_80547563 | 80517564 | T | TTTTGTTT others(1766): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 105 | 0.0095 | 1773 | c.318 others(1790): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591765 | G | GGTGTTGA others(1766): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 379 | 0.0053 | 1773 | c.*50 others(1784): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4036 | chr5 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876935 | T | TAGGGAGG others(1766): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 225 | 0.0044 | 1773 | c.224 others(1792): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876982 | G | GGGAAGTT others(1766): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 247 | 0.0040 | 1773 | c.224 others(1792): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877396 | G | GGGAGGTT others(1766): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0082 | 1 | 145 | 0.0069 | 1773 | c.224 others(1792): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1766): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0008 | a0008c0109 | a0008c0109t0001 | a0008c0109t0001g0321 | 1 | 12 | 0.0833 | 1773 | c.228 others(1790): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1766): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0023 | 1 | 12 | 0.0833 | 1773 | c.228 others(1790): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1766): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01168.hp1 others(28): Show |
a0001a0003a0005others(4): Show | a0001c0003a0003c0001a0005c0032others(8): Show | a0001c0003t0001a0003c0001t0001a0005c0032t0001others(8): Show | a0001c0003t0001g0035 a0001c0003t0001g0059 a0001c0003t0001g0118 others(27): Show |
31 | 42 | 0.7381 | 1773 | c.228 others(1790): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143981315 | G | GTGATGGT others(1766): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 | 1 | 330 | 0.0030 | 1773 | c.255 others(1792): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1766): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 217 | 0.0046 | 1773 | c.-93 others(1790): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1767): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0015 | a0015c0021 | a0015c0021t0002 | a0015c0021t0002g0024 | 1 | 45 | 0.0222 | 1774 | c.289 others(1793): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1767): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0020 | a0020c0013 | a0020c0013t0002 | a0020c0013t0002g0134 | 1 | 45 | 0.0222 | 1774 | c.289 others(1793): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1767): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 45 | 0.0222 | 1774 | c.289 others(1793): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516565 | A | AGGTGGAC others(1767): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 59 | 0.0169 | 1774 | c.86- others(1791): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
FAM240C_chr2_241888988_241905464 | 241896503 | G | GGGGTGTG others(1767): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 29 | 0.0345 | 1774 | c.161 others(1789): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
FAM240C_chr2_241888988_241905464 | 241896503 | G | GGGGTGTG others(1767): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 29 | 0.0345 | 1774 | c.161 others(1789): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180300019 | C | CCGTGATA others(1767): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0149 | 1 | 388 | 0.0026 | 1774 | c.*15 others(1785): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 678 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180300019 | C | CCGTGATA others(1767): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01192.hp1 HG01981.hp1 others(11): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0002 | a0001c0003t0004a0001c0005t0004a0002c0002t0004 | a0001c0003t0004g0119 a0001c0005t0004g0045 a0001c0005t0004g0058 others(11): Show |
14 | 401 | 0.0349 | 1774 | c.*15 others(1785): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 678 | chr5 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180300019 | C | CCGTGATA others(1767): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 NA18997.hp2 NA19082.hp1 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0143 a0001c0005t0004g0147 a0001c0005t0004g0160 |
3 | 390 | 0.0077 | 1774 | c.*15 others(1785): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 678 | chr5 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514822 | T | TTCACACT others(1767): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 262 | 0.0038 | 1774 | c.104 others(1793): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1767): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0063 | a0063c0062 | a0063c0062t0011 | a0063c0062t0011g0152 | 1 | 32 | 0.0313 | 1774 | c.218 others(1789): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1767): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0028 | 1 | 12 | 0.0833 | 1774 | c.228 others(1791): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1767): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0022 | 1 | 12 | 0.0833 | 1774 | c.228 others(1791): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1767): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0008 | a0008c0112 | a0008c0112t0001 | a0008c0112t0001g0232 | 1 | 12 | 0.0833 | 1774 | c.228 others(1791): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1767): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0032 | a0005c0032t0001 | a0005c0032t0001g0222 | 1 | 12 | 0.0833 | 1774 | c.228 others(1791): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408886 | C | CTAGCGCA others(1767): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 266 | 0.0038 | 1774 | c.*17 others(1785): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 867 | chr1 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1767): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0111 | 1 | 9 | 0.1111 | 1774 | c.*39 others(1785): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3976493 | A | AGGGTCCC others(1767): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0037 | 1 | 93 | 0.0108 | 1774 | c.199 others(1793): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273665 | A | ACACATCA others(1767): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 373 | 0.0027 | 1774 | c.228 others(1793): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1767): Show |
intron_variant | MODIFIER | HG02976.hp1 NA19240.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 |
3 | 148 | 0.0203 | 1774 | c.114 others(1791): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377412 | G | GTGACCTC others(1767): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0034 | 1 | 298 | 0.0034 | 1774 | c.*41 others(1789): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar |