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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6267): Show |
frameshift_variant others(1): Show |
HIGH | HG03195.hp1 NA20752.hp2 |
a0004 | a0004c0127a0004c0129 | a0004c0127t0003a0004c0129t0003 | a0004c0127t0003g0186 a0004c0129t0003g0189 |
2 | 264 | 0.0076 | 6274 | c.109 others(6285): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6267): Show |
frameshift_variant others(1): Show |
HIGH | HG04199.hp1 | a0004 | a0004c0119 | a0004c0119t0003 | a0004c0119t0003g0169 | 1 | 263 | 0.0038 | 6274 | c.109 others(6285): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6269): Show |
stop_gained others(1): Show |
HIGH | NA19240.hp1 | a0108 | a0108c0146 | a0108c0146t0007 | a0108c0146t0007g0260 | 1 | 263 | 0.0038 | 6276 | c.109 others(6287): Show |
p.Gly others(6291): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(6270): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 129 | 0.0078 | 6277 | c.86- others(6290): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870129 | C | CACCACAC others(6270): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 331 | 0.0030 | 6277 | c.*35 others(6296): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6271): Show |
frameshift_variant others(1): Show |
HIGH | HG03130.hp2 | a0084 | a0084c0145 | a0084c0145t0007 | a0084c0145t0007g0259 | 1 | 263 | 0.0038 | 6278 | c.109 others(6289): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(6272): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 13 | 0.0769 | 6279 | c.215 others(6296): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BOLL_chr2_197721890_197790319 | 197747651 | T | TGATAGTA others(6273): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 326 | 0.0031 | 6280 | c.730 others(6297): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(6273): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 274 | 0.0036 | 6280 | c.340 others(6297): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716520 | G | GGGGAGGA others(6274): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0054 | 1 | 157 | 0.0064 | 6281 | c.86- others(6292): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6276): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0145 | 1 | 152 | 0.0066 | 6283 | c.228 others(6304): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6276): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0124 | 1 | 152 | 0.0066 | 6283 | c.228 others(6304): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6283): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 | 1 | 23 | 0.0435 | 6290 | c.*89 others(6301): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6284): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG03579.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 others(1): Show |
4 | 26 | 0.1538 | 6291 | c.*89 others(6302): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328466 | T | CATATGAT others(6285): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0055 | 1 | 79 | 0.0127 | 6292 | c.199 others(6311): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693726 | A | ACCTCCAC others(6286): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 277 | 0.0036 | 6293 | c.*67 others(6304): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4920 | chr20 | TogoVar | |||||||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6286): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0032 | a0002c0032t0003 | a0002c0032t0003g0004 | 1 | 64 | 0.0156 | 6293 | c.362 others(6310): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977331 | T | TCCTCCAG others(6287): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0015 | a0015c0074 | a0015c0074t0042 | a0015c0074t0042g0081 | 1 | 37 | 0.0270 | 6294 | c.199 others(6313): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146984913 | T | TCATGCCA others(6288): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0025 | a0003c0025t0001 | a0003c0025t0001g0040 | 1 | 95 | 0.0105 | 6295 | c.289 others(6310): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654782 | T | TAAATTCC others(6292): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0251 | 1 | 391 | 0.0026 | 6299 | c.-52 others(6316): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146990980 | A | AATTCATT others(6292): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0044 | 1 | 100 | 0.0100 | 6299 | c.379 others(6314): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6294): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0031 | a0002c0031t0003 | a0002c0031t0003g0031 | 1 | 64 | 0.0156 | 6301 | c.362 others(6318): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146991218 | C | CCAGCCCT others(6295): Show |
frameshift_variant others(1): Show |
HIGH | NA18952.hp1 | a0026 | a0026c0030 | a0026c0030t0003 | a0026c0030t0003g0028 | 1 | 120 | 0.0083 | 6302 | c.374 others(6311): Show |
p.Arg others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5179/7435 | 3741/4374 | 1247/1457 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(6295): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 13 | 0.0769 | 6302 | c.215 others(6319): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6296): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0015 | 1 | 64 | 0.0156 | 6303 | c.362 others(6320): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146994128 | G | GTCTTTCT others(6296): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0019 | a0019c0017 | a0019c0017t0019 | a0019c0017t0019g0112 | 1 | 112 | 0.0089 | 6303 | c.413 others(6320): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146991003 | C | CTGTCCTT others(6297): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp1 NA19010.hp2 NA19070.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 |
3 | 120 | 0.0250 | 6304 | c.374 others(6313): Show |
p.Arg others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5179/7435 | 3741/4374 | 1247/1457 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF12_chr1_146933324_147001198 | 146991230 | A | CAGTGCTG others(6297): Show |
frameshift_variant others(1): Show |
HIGH | HG01928.hp2 | a0015 | a0015c0034 | a0015c0034t0005 | a0015c0034t0005g0022 | 1 | 118 | 0.0085 | 6304 | c.374 others(6313): Show |
p.Arg others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5179/7435 | 3741/4374 | 1247/1457 | chr1 | TogoVar | |||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6298): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014 | 1 | 64 | 0.0156 | 6305 | c.362 others(6322): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6298): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0019 | 1 | 64 | 0.0156 | 6305 | c.362 others(6322): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6298): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG01981.hp1 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0005 a0002c0005t0005g0017 a0002c0005t0005g0018 others(2): Show |
5 | 68 | 0.0735 | 6305 | c.362 others(6322): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6298): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01978.hp2 NA19002.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0024 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0032 others(1): Show |
4 | 67 | 0.0597 | 6305 | c.362 others(6322): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6298): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01978.hp1 HG04204.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 |
3 | 66 | 0.0455 | 6305 | c.362 others(6322): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6298): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03239.hp2 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0006 a0002c0002t0013g0007 |
2 | 65 | 0.0308 | 6305 | c.362 others(6322): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146990926 | C | CTTTCTCT others(6298): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0027 | 1 | 64 | 0.0156 | 6305 | c.362 others(6322): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146992612 | T | TTTTTTAA others(6300): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0014 | a0014c0038 | a0014c0038t0007 | a0014c0038t0007g0075 | 1 | 118 | 0.0085 | 6307 | c.384 others(6322): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72724723 | A | AGACACAT others(6309): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 1 | 180 | 0.0056 | 6316 | c.363 others(6335): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586548 | C | CAGTGGGG others(6311): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0098 | 1 | 261 | 0.0038 | 6318 | c.157 others(6335): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158916063 | G | GTCGACAC others(6316): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 |
a0001a0002 | a0001c0021a0002c0005 | a0001c0021t0008a0002c0005t0010 | a0001c0021t0008g0112 a0002c0005t0010g0100 |
2 | 181 | 0.0110 | 6323 | c.179 others(6342): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NCKAP5_chr2_132666788_133573463 | 133186960 | T | TCTTCTCT others(6319): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0052 | 1 | 70 | 0.0143 | 6326 | c.207 others(6345): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 5/19 | chr2 | TogoVar | |||||||
NBPF20_chr1_145285005_145430603 | 145403996 | C | CTGCAGCA others(6323): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0004 | 1 | 3 | 0.3333 | 6330 | c.176 others(6345): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(6330): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 56 | 0.0357 | 6337 | c.891 others(6352): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146121347 | G | GGAACTAG others(6332): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0083 | a0083c0097 | a0083c0097t0002 | a0083c0097t0002g0127 | 1 | 282 | 0.0035 | 6339 | c.275 others(6356): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 20/89 | chr1 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CAGTGGGG others(6334): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0248 | 1 | 271 | 0.0037 | 6341 | c.157 others(6358): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693738 | T | ACCACCAC others(6335): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 292 | 0.0034 | 6342 | c.*67 others(6353): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4909 | chr20 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693738 | T | ACCACCAC others(6335): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0023 | 1 | 57 | 0.0175 | 6342 | c.299 others(6359): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | chr20 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065227 | C | TTGTTATG others(6337): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0045 | 1 | 211 | 0.0047 | 6344 | c.118 others(6363): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(6337): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0113 | 1 | 152 | 0.0066 | 6344 | c.228 others(6365): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(6338): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325 | 1 | 160 | 0.0063 | 6345 | c.101 others(6362): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 72859877 | T | TCTTGGGA others(6339): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02145.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0001c0005a0002c0017 | a0001c0001t0001a0001c0005t0001a0002c0017t0001 | a0001c0001t0001g0124 a0001c0005t0001g0066 a0002c0017t0001g0050 |
3 | 20 | 0.1500 | 6346 | c.431 others(6365): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar |