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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 a0001c0001t0005g0045 a0001c0001t0005g0046 others(1): Show |
4 | 120 | 0.0333 | 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 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0055 | 1 | 82 | 0.0122 | 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 | 296 | 0.0034 | 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 | a0015 | a0015c0033 | a0015c0033t0003 | a0015c0033t0003g0004 | 1 | 122 | 0.0082 | 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 | a0015c0075 | a0015c0075t0042 | a0015c0075t0042g0081 | 1 | 116 | 0.0086 | 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 | a0003c0028 | a0003c0028t0001 | a0003c0028t0001g0046 | 1 | 122 | 0.0082 | 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 | a0003c0003t0002g0264 | 1 | 394 | 0.0025 | 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 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0044 | 1 | 122 | 0.0082 | 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 | a0002c0037 | a0002c0037t0003 | a0002c0037t0003g0031 | 1 | 122 | 0.0082 | 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 | a0032 | a0032c0034 | a0032c0034t0003 | a0032c0034t0003g0028 | 1 | 122 | 0.0082 | 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 | a0001c0001t0001g0235 | 1 | 279 | 0.0036 | 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 | 122 | 0.0082 | 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 | a0025 | a0025c0020 | a0025c0020t0019 | a0025c0020t0019g0089 | 1 | 122 | 0.0082 | 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 | 122 | 0.0246 | 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 | a0017 | a0017c0039 | a0017c0039t0005 | a0017c0039t0005g0022 | 1 | 122 | 0.0082 | 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 | 122 | 0.0082 | 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 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0021 | 1 | 122 | 0.0082 | 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 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0005 a0002c0006t0005g0017 a0002c0006t0005g0018 others(2): Show |
5 | 122 | 0.0410 | 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 | 122 | 0.0328 | 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 | 122 | 0.0246 | 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 | 122 | 0.0164 | 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 | a0002c0036 | a0002c0036t0003 | a0002c0036t0003g0027 | 1 | 122 | 0.0082 | 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 | a0016 | a0016c0042 | a0016c0042t0007 | a0016c0042t0007g0075 | 1 | 122 | 0.0082 | 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 | 182 | 0.0055 | 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 | 308 | 0.0033 | 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 | a0001c0023a0002c0016 | a0001c0023t0008a0002c0016t0010 | a0001c0023t0008g0185 a0002c0016t0010g0090 |
2 | 274 | 0.0073 | 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 | a0005c0004t0001g0006 | 1 | 6 | 0.1667 | 6330 | c.176 others(6345): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | TogoVar | |||||||
NBPF20_chr1_145285005_145430603 | 145403996 | C | CTGCAGCA others(6326): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0006 | a0006c0003 | a0006c0003t0001 | a0006c0003t0001g0001 | 1 | 6 | 0.1667 | 6333 | c.176 others(6348): Show |
NBPF20 | ENSG00000162825.18 | transcript | ENST00000698833.1 | protein_coding | 7/142 | chr1 | TogoVar | |||||||
NBPF20_chr1_145285005_145430603 | 145403996 | C | CTGCAGCA others(6326): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01358.hp2 |
a0002a0003 | a0002c0005a0003c0002 | a0002c0005t0002a0003c0002t0001 | a0002c0005t0002g0005 a0003c0002t0001g0003 |
2 | 6 | 0.3333 | 6333 | c.176 others(6348): 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 | a0001c0001t0001g0051 a0001c0001t0001g0052 |
2 | 370 | 0.0054 | 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 | a0132 | a0132c0135 | a0132c0135t0002 | a0132c0135t0002g0113 | 1 | 283 | 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 | 308 | 0.0033 | 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 | 296 | 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 | 60 | 0.0167 | 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 | a0001c0001t0009g0046 | 1 | 337 | 0.0030 | 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 | a0002c0003t0002g0114 | 1 | 289 | 0.0035 | 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 | a0001c0001t0002g0342 | 1 | 376 | 0.0027 | 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 | 180 | 0.0167 | 6346 | c.431 others(6365): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146126598 | C | CAGAGAGA others(6340): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0149 | a0149c0138 | a0149c0138t0002 | a0149c0138t0002g0115 | 1 | 283 | 0.0035 | 6347 | c.185 others(6364): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72859877 | T | TCTTGGGA others(6340): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0059 | 1 | 180 | 0.0056 | 6347 | c.431 others(6366): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72859877 | T | TCTTGGGA others(6340): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 180 | 0.0056 | 6347 | c.431 others(6366): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72859877 | T | TCTTGGGA others(6340): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0149 a0001c0001t0005g0120 |
2 | 180 | 0.0111 | 6347 | c.431 others(6366): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(6341): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0177 | 1 | 390 | 0.0026 | 6348 | c.109 others(6363): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HRNR_chr1_152207076_152229193 | 152213624 | C | CGTGGCTG others(6341): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp2 | a0001 | a0001c0102 | a0001c0102t0001 | a0001c0102t0001g0109 | 1 | 418 | 0.0024 | 6348 | c.800 others(6357): Show |
p.His others(6363): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8080/9629 | 8004/8553 | 2668/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152213624 | C | CGTGGCTG others(6341): Show |
conservative_inframe_insertion | MODERATE | HG02622.hp2 | a0001 | a0001c0122 | a0001c0122t0001 | a0001c0122t0001g0128 | 1 | 418 | 0.0024 | 6348 | c.800 others(6357): Show |
p.His others(6363): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8080/9629 | 8004/8553 | 2668/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152213624 | C | CGTGGCTG others(6341): Show |
conservative_inframe_insertion | MODERATE | HG03209.hp2 | a0001 | a0001c0101 | a0001c0101t0001 | a0001c0101t0001g0108 | 1 | 418 | 0.0024 | 6348 | c.800 others(6357): Show |
p.His others(6363): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8080/9629 | 8004/8553 | 2668/2850 | chr1 | TogoVar | |||
NTN4_chr12_95652807_95795764 | 95715021 | A | ACTTTCTT others(6341): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 324 | 0.0031 | 6348 | c.865 others(6365): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 3/9 | chr12 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72859877 | T | TCTTGGGA others(6341): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0048 | 1 | 180 | 0.0056 | 6348 | c.431 others(6367): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 72859877 | T | TCTTGGGA others(6341): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 180 | 0.0056 | 6348 | c.431 others(6367): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 5/9 | chr17 | TogoVar |