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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(1139): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0019 | a0019c0045 | a0019c0045t0002 | a0019c0045t0002g0115 | 1 | 298 | 0.0034 | 1146 | c.173 others(1163): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(1139): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0237 | 1 | 326 | 0.0031 | 1146 | c.-13 others(1165): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(1139): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0234a0001c0001t0001g0235a0001c0001t0001g0236others(1): Show | 4 | 326 | 0.0123 | 1146 | c.-13 others(1165): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099026 | A | AGAGGTTA others(1139): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0228 | 1 | 326 | 0.0031 | 1146 | c.-13 others(1165): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803012 | G | GGGGGCCC others(1139): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 398 | 0.0025 | 1146 | c.666 others(1161): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1139): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01261.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0105a0001c0001t0001g0109others(5): Show | 8 | 116 | 0.0690 | 1146 | c.-52 others(1167): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1139): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 116 | 0.0086 | 1146 | c.-52 others(1167): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(1139): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0103 | 1 | 168 | 0.0060 | 1146 | c.-26 others(1155): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878246 | T | TATATATA others(1139): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 208 | 0.0048 | 1146 | c.192 others(1165): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1139): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0124 | a0124c0154 | a0124c0154t0001 | a0124c0154t0001g0087 | 1 | 252 | 0.0040 | 1146 | c.118 others(1165): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438445 | G | GGAGGAGG others(1139): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0031 | a0031c0163 | a0031c0163t0001 | a0031c0163t0001g0156 | 1 | 252 | 0.0040 | 1146 | c.118 others(1165): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400975 | C | CACCACCA others(1139): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0035 | a0035c0090 | a0035c0090t0003 | a0035c0090t0003g0019 | 1 | 256 | 0.0039 | 1146 | c.323 others(1165): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FHIT_chr3_59742277_61256452 | 60551509 | G | GATGGGAG others(1139): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 46 | 0.0217 | 1146 | c.-17 others(1165): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859347 | T | TGTCTCGG others(1139): Show |
intron_variant | MODIFIER | HG03834.hp2 NA20752.hp1 |
a0004a0008 | a0004c0043a0008c0045 | a0004c0043t0003a0008c0045t0003 | a0004c0043t0003g0119a0008c0045t0003g0072 | 2 | 294 | 0.0068 | 1146 | c.153 others(1165): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543810 | C | CTGGTGCT others(1139): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0009 | 1 | 342 | 0.0029 | 1146 | c.152 others(1163): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1139): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031a0001c0001t0002g0031 | 2 | 432 | 0.0046 | 1146 | c.-37 others(1157): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803012 | G | GGGGGCCC others(1139): Show |
upstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 330 | 0.0030 | 1146 | c.-51 others(1157): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4935 | chr9 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(1139): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 1146 | c.*44 others(1157): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913508 | G | GTGTGTGT others(1139): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 420 | 0.0024 | 1146 | c.*28 others(1157): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1823 | chr9 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13065907 | T | TCTTCCTT others(1139): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0012a0001c0003t0058 | a0001c0001t0012g0259a0001c0003t0012g0258a0001c0003t0058g0257 | 3 | 292 | 0.0103 | 1146 | c.304 others(1163): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SPTLC3_chr20_13003972_13174103 | 13065907 | T | TCTTCCTT others(1139): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02615.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0292a0001c0001t0004g0229a0001c0001t0004g0288others(9): Show | 12 | 292 | 0.0411 | 1146 | c.304 others(1163): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SPTLC3_chr20_13003972_13174103 | 13065907 | T | TCTTCCTT others(1139): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0005 | a0005c0010 | a0005c0010t0037 | a0005c0010t0037g0167 | 1 | 292 | 0.0034 | 1146 | c.304 others(1163): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TEX19_chr17_82354247_82368775 | 82361347 | C | CAAGTTTC others(1139): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 380 | 0.0026 | 1146 | c.-27 others(1163): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TMEM132D_chr12_129066726_129909025 | 129828693 | G | GAGGGAGA others(1139): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0077 | 1 | 94 | 0.0106 | 1146 | c.79+ others(1163): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311242 | C | CAGTGTGC others(1139): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0029 | a0001c0001t0003g0299a0001c0001t0029g0326 | 2 | 344 | 0.0058 | 1146 | c.327 others(1163): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311452 | G | GCGCTCAC others(1139): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0173 | 1 | 344 | 0.0029 | 1146 | c.327 others(1163): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(1140): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0094 | 1 | 262 | 0.0038 | 1147 | c.106 others(1166): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1140): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0052 | 1 | 242 | 0.0041 | 1147 | c.927 others(1164): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410763 | G | GTCCTGGG others(1140): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0000 | a0000c0003 | a0000c0003t0095 | a0000c0003t0095g0116 | 1 | 322 | 0.0031 | 1147 | c.-17 others(1158): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1617 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411264 | G | GCCCCTGC others(1140): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0136 | a0001c0001t0136g0109 | 1 | 322 | 0.0031 | 1147 | c.-23 others(1158): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2118 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(1140): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0027 | 1 | 322 | 0.0031 | 1147 | c.-23 others(1158): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(1140): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0076 | 1 | 322 | 0.0031 | 1147 | c.-23 others(1158): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138017897 | T | TCAGGTGC others(1140): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0029 | a0004c0029t0036 | a0004c0029t0036g0206 | 1 | 248 | 0.0040 | 1147 | c.226 others(1166): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(1140): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 398 | 0.0025 | 1147 | c.666 others(1162): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGGGAG others(1140): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065a0001c0001t0002g0091 | 2 | 288 | 0.0069 | 1147 | c.303 others(1166): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882359 | G | GGGGAGAA others(1140): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 288 | 0.0035 | 1147 | c.303 others(1166): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1140): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 116 | 0.0086 | 1147 | c.-52 others(1168): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(1140): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0116 | 1 | 216 | 0.0046 | 1147 | c.923 others(1166): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATGTG others(1140): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0056 | 1 | 148 | 0.0068 | 1147 | c.183 others(1166): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619428 | C | CCCCCCCT others(1140): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 250 | 0.0040 | 1147 | c.-10 others(1166): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EIPR1_chr2_3183970_3382818 | 3315942 | C | CCACACCC others(1140): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01256.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080a0001c0001t0002g0083a0001c0001t0002g0084others(1): Show | 4 | 250 | 0.0160 | 1147 | c.259 others(1166): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315984 | G | GCCCCTAC others(1140): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 250 | 0.0040 | 1147 | c.259 others(1166): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3316036 | A | ATCACCAC others(1140): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 250 | 0.0040 | 1147 | c.259 others(1166): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322914 | T | TATATATG others(1140): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 323 | 0.0031 | 1147 | c.-21 others(1158): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2055 | chr21 | TogoVar | ||||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1140): Show |
intron_variant | MODIFIER | HG02602.hp1 HG04115.hp1 HG04204.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0103a0003c0003t0003g0189a0003c0003t0003g0293 | 3 | 420 | 0.0071 | 1147 | c.421 others(1160): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(1140): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 295 | 0.0034 | 1147 | c.126 others(1166): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RABL6_chr9_136802948_136846187 | 136803215 | G | GGGGGCCC others(1140): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 330 | 0.0030 | 1147 | c.-49 others(1158): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4732 | chr9 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1140): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 304 | 0.0033 | 1147 | c.347 others(1162): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1140): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0124 | 1 | 334 | 0.0030 | 1147 | c.45- others(1162): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1140): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 | 1 | 134 | 0.0075 | 1147 | c.-28 others(1166): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar |