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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYP4F11_chr19_15907377_15939529 | 15932741 | T | TGGGCAGA others(413): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0001 | a0002c0001t0010 | a0002c0001t0010g0142 | 1 | 386 | 0.0026 | 420 | c.198 others(437): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932825 | G | GAGAGGAA others(413): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0382 | 1 | 386 | 0.0026 | 420 | c.198 others(437): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933152 | A | ATGAGTGA others(413): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0134 | 1 | 386 | 0.0026 | 420 | c.198 others(437): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933161 | T | TGGGCAGA others(413): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0148 | a0001c0002t0148g0136 | 1 | 386 | 0.0026 | 420 | c.198 others(437): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933185 | G | GAGAGGAA others(413): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0001 | a0002c0001t0013 | a0002c0001t0013g0349 | 1 | 386 | 0.0026 | 420 | c.198 others(437): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933252 | A | ATGAGTGA others(413): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0155 | 1 | 386 | 0.0026 | 420 | c.198 others(435): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933605 | G | GAGAGGAA others(413): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0001 | a0002c0001t0013 | a0002c0001t0013g0348 | 1 | 386 | 0.0026 | 420 | c.198 others(435): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(413): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0159 | 1 | 216 | 0.0046 | 420 | c.923 others(439): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(413): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0179 | 1 | 230 | 0.0044 | 420 | c.724 others(439): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(413): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 367 | 0.0027 | 420 | c.-42 others(431): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397028 | C | CAGAGTGA others(413): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0278 | 1 | 336 | 0.0030 | 420 | c.348 others(437): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | chr2 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42197252 | C | CAACAACA others(413): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01257.hp1 HG04184.hp1 |
a0001 | a0001c0003 | a0001c0003t0025a0001c0003t0045 | a0001c0003t0025g0138a0001c0003t0025g0186a0001c0003t0045g0179 | 3 | 316 | 0.0095 | 420 | c.216 others(439): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 748222 | G | GTCTGCGG others(413): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0028 | 1 | 40 | 0.0250 | 420 | c.18+ others(437): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1317112 | G | GCGAGTGC others(413): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 40 | 0.0250 | 420 | c.106 others(439): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1384590 | G | GTGCCCGT others(413): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 40 | 0.0250 | 420 | c.107 others(441): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1384842 | A | GTGCCCGT others(413): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 40 | 0.0250 | 420 | c.107 others(441): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 752354 | G | GTGATGAC others(413): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02922.hp1 HG03516.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0003 | a0001c0001t0004g0169a0003c0003t0003g0190a0003c0003t0003g0191 | 3 | 378 | 0.0079 | 420 | c.102 others(439): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716361 | G | GTGGTGTC others(413): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 170 | 0.0059 | 420 | c.86- others(433): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ELOVL6_chr4_110040846_110203615 | 110084414 | C | CATGATAT others(413): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 | 1 | 338 | 0.0030 | 420 | c.221 others(439): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928023 | G | GTGGTGAT others(413): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0204 | 1 | 288 | 0.0035 | 420 | c.190 others(439): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99928035 | G | GTGGTGAT others(413): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0058 | 1 | 288 | 0.0035 | 420 | c.190 others(439): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ETDB_chrX_135113955_135125526 | 135115020 | T | TATATATA others(413): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 314 | 0.0032 | 420 | c.*40 others(431): Show |
ETDB | ENSG00000224107.5 | transcript | ENST00000423661.1 | protein_coding | 3934 | chrX | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329402 | G | GTCACACG others(413): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 82 | 0.0122 | 420 | c.199 others(439): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137350437 | T | TCTAGATA others(413): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03688.hp1 |
a0004a0013 | a0004c0021a0013c0027 | a0004c0021t0001a0013c0027t0001 | a0004c0021t0001g0069a0013c0027t0001g0064 | 2 | 82 | 0.0244 | 420 | c.149 others(437): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 14/21 | chr9 | TogoVar | ||||||
FBXO34_chr14_55266421_55358611 | 55331803 | T | TATATATA others(413): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02129.hp1 HG02273.hp1 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0212a0001c0001t0001g0214a0001c0001t0001g0216others(8): Show | 11 | 334 | 0.0329 | 420 | c.-10 others(439): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FSIP1_chr15_39595031_39787841 | 39702423 | T | TAAAACTA others(413): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02970.hp2 others(3): Show |
a0001a0003a0011 | a0001c0001a0003c0003a0011c0010 | a0001c0001t0001a0003c0003t0001a0011c0010t0001 | a0001c0001t0001g0192a0001c0001t0001g0196a0003c0003t0001g0189others(3): Show | 6 | 254 | 0.0236 | 420 | c.118 others(441): Show |
FSIP1 | ENSG00000150667.8 | transcript | ENST00000350221.4 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(413): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0123 | 1 | 366 | 0.0027 | 420 | c.666 others(437): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GFPT2_chr5_180295698_180358336 | 180300121 | T | TGGTGGAT others(413): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0143 | 1 | 412 | 0.0024 | 420 | c.*14 others(431): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 576 | chr5 | TogoVar | ||||||
GLB1L2_chr11_134326988_134381324 | 134369530 | C | CAGGTGTG others(413): Show |
intron_variant | MODIFIER | NA19012.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0135 | 2 | 414 | 0.0048 | 420 | c.102 others(437): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLT6D1_chr9_135618648_135644540 | 135620157 | T | TCTACTCC others(413): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 436 | 0.0023 | 420 | c.*39 others(431): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3490 | chr9 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795580 | G | GCCCTTCT others(413): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 422 | 0.0024 | 420 | c.*31 others(431): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2460 | chr16 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(413): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 208 | 0.0048 | 420 | c.-97 others(437): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPR89B_chr1_147923420_147998592 | 147949447 | C | CCCACCTC others(413): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0238 | 1 | 274 | 0.0037 | 420 | c.416 others(437): Show |
GPR89B | ENSG00000188092.15 | transcript | ENST00000314163.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GRK5_chr10_119202571_119464745 | 119394232 | G | GTGTGTGG others(413): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 HG02895.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0004a0001c0004t0001a0001c0004t0011others(2): Show | a0001c0001t0004g0065a0001c0004t0001g0196a0001c0004t0011g0150others(2): Show | 5 | 202 | 0.0248 | 420 | c.262 others(437): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GRTP1_chr13_113319163_113369130 | 113346645 | C | CAGACCCA others(413): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0111a0001c0001t0002g0084 | 2 | 288 | 0.0069 | 420 | c.466 others(437): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653223 | T | TCCCCCCT others(413): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 290 | 0.0035 | 420 | c.427 others(437): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HDAC4_chr2_239043168_239406020 | 239231772 | T | TGTCCTCC others(413): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01496.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0012 | a0001c0002t0001g0113a0001c0002t0012g0242 | 2 | 242 | 0.0083 | 420 | c.94+ others(435): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | ||||||
HIC1_chr17_2050103_2068241 | 2052377 | T | TGCCTGGG others(413): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 1 | 414 | 0.0024 | 420 | c.-28 others(431): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2725 | chr17 | TogoVar | ||||||
HIC1_chr17_2050103_2068241 | 2052377 | T | TGCCTGGG others(413): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 414 | 0.0024 | 420 | c.-28 others(431): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2725 | chr17 | TogoVar | ||||||
HIC1_chr17_2050103_2068241 | 2052787 | G | GGGGGTTA others(413): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 414 | 0.0024 | 420 | c.-24 others(431): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 2315 | chr17 | TogoVar | ||||||
HRAS_chr11_527242_540576 | 530867 | C | CAGTGTGG others(413): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 397 | 0.0025 | 420 | c.*16 others(431): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1374 | chr11 | TogoVar | ||||||
HRAS_chr11_527242_540576 | 530867 | C | CAGTGTGG others(413): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 397 | 0.0050 | 420 | c.*16 others(431): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1374 | chr11 | TogoVar | ||||||
HRAS_chr11_527242_540576 | 530951 | G | GAGTGTGG others(413): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 397 | 0.0025 | 420 | c.*15 others(431): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1290 | chr11 | TogoVar | ||||||
HRAS_chr11_527242_540576 | 531090 | C | CCAGTGTG others(413): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 397 | 0.0025 | 420 | c.*14 others(431): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1151 | chr11 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152799 | A | ACCACCAC others(413): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 274 | 0.0037 | 420 | c.804 others(437): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(413): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0101 | 1 | 323 | 0.0031 | 420 | c.-21 others(431): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 105540815 | T | TATACATA others(413): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 141 | 0.0071 | 420 | c.772 others(439): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INPP5E_chr9_136423619_136444845 | 136431682 | G | GCCCCCCC others(413): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 382 | 0.0026 | 420 | c.154 others(437): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(413): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0080 | 1 | 158 | 0.0063 | 420 | c.*11 others(441): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JPH2_chr20_44101590_44192188 | 44132792 | A | ACCCACCC others(413): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0008 | a0003c0008t0034 | a0003c0008t0034g0332 | 1 | 338 | 0.0030 | 420 | c.117 others(441): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar |