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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF183_chr9_113292093_113308376 | 113308170 | A | AAAGAAAG others(24): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 138 | 0.0072 | 31 | c.-55 others(42): Show |
RNF183 | ENSG00000165188.14 | transcript | ENST00000489339.2 | protein_coding | 4795 | chr9 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80396744 | C | CCCCCCCC others(24): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0075 | a0075c0048 | a0075c0048t0051 | a0075c0048t0051g0245 | 1 | 266 | 0.0038 | 31 | c.*32 others(42): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 68/68 | 3249 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RNF223_chr1_1065967_1079306 | 1078231 | G | GGGAGGCT others(24): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 | 1 | 239 | 0.0042 | 31 | c.-42 others(42): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 3926 | chr1 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078295 | T | TGGCTGAG others(24): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 148 | 0.0068 | 31 | c.-42 others(42): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 3990 | chr1 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078781 | A | AGGCTATG others(24): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 321 | 0.0031 | 31 | c.-47 others(42): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4476 | chr1 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1079129 | G | GGGGGGAG others(24): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 321 | 0.0031 | 31 | c.-51 others(42): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4824 | chr1 | TogoVar | |||||||
RNF2_chr1_185040558_185107603 | 185082345 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0044 a0001c0001t0007g0213 |
2 | 7 | 0.2857 | 31 | c.-2- others(46): Show |
RNF2 | ENSG00000121481.11 | transcript | ENST00000367510.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF4_chr4_2464106_2520857 | 2466647 | T | TGTGTGTG others(24): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 56 | 0.0179 | 31 | c.-27 others(42): Show |
RNF4 | ENSG00000063978.17 | transcript | ENST00000314289.13 | protein_coding | 2458 | chr4 | TogoVar | |||||||
RNFT2_chr12_116733315_116858631 | 116782079 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02735.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0019a0001c0016t0032 | a0001c0001t0019g0153 a0001c0016t0032g0044 |
2 | 15 | 0.1333 | 31 | c.882 others(48): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RNGTT_chr6_88604897_88968618 | 88647711 | A | AAGAAAAA others(24): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 217 | 0.0046 | 31 | c.150 others(52): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 14/15 | chr6 | TogoVar | |||||||
RNGTT_chr6_88604897_88968618 | 88868822 | G | GGAATTTC others(24): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 218 | 0.0046 | 31 | c.897 others(50): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 8/15 | chr6 | TogoVar | |||||||
RNLS_chr10_88279102_88588318 | 88519692 | A | AGATATAT others(24): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01346.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0001g0138 others(2): Show |
5 | 232 | 0.0216 | 31 | c.526 others(50): Show |
RNLS | ENSG00000184719.13 | transcript | ENST00000331772.9 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
RNMT_chr18_13721673_13769556 | 13744159 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 25 | 0.0400 | 31 | c.113 others(50): Show |
RNMT | ENSG00000101654.18 | transcript | ENST00000383314.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ROBO1_chr3_78592239_79772998 | 79484755 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0033 | 1 | 10 | 0.1000 | 31 | c.88+ others(50): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 2/30 | chr3 | TogoVar | |||||||
ROBO1_chr3_78592239_79772998 | 79550195 | G | GAAAGAAA others(24): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 11 | 0.0909 | 31 | c.88+ others(48): Show |
ROBO1 | ENSG00000169855.21 | transcript | ENST00000464233.6 | protein_coding | 2/30 | chr3 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77252831 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0086 | 1 | 19 | 0.0526 | 31 | c.388 others(52): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROCK1_chr18_20941906_21116813 | 20959099 | T | TATAATAT others(24): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02647.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0111 others(4): Show |
7 | 185 | 0.0378 | 31 | c.351 others(48): Show |
ROCK1 | ENSG00000067900.9 | transcript | ENST00000399799.3 | protein_coding | 29/32 | chr18 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11238245 | T | TGTGTGTG others(24): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0007 | 1 | 317 | 0.0032 | 31 | c.463 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 4/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295989 | A | AGAGAGAG others(24): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02083.hp2 HG04228.hp1 others(4): Show |
a0002a0005 | a0002c0002a0005c0009 | a0002c0002t0002a0002c0002t0003a0002c0002t0014others(1): Show | a0002c0002t0002g0013 a0002c0002t0002g0073 a0002c0002t0002g0076 others(4): Show |
7 | 296 | 0.0236 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGA others(24): Show |
intron_variant | MODIFIER | HG00733.hp1 NA19060.hp2 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 a0002c0002t0002g0060 a0002c0002t0002g0102 |
3 | 219 | 0.0137 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGA others(24): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0013 | a0002c0013t0031 | a0002c0013t0031g0005 | 1 | 217 | 0.0046 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGA others(24): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047 | 1 | 217 | 0.0046 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGG others(24): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0068 | 1 | 217 | 0.0046 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGAGG others(24): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0043 | 1 | 217 | 0.0046 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGGAGAG others(24): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0131 a0001c0001t0004g0135 |
2 | 218 | 0.0092 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11296005 | G | GAGGAGAG others(24): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0047 | a0002c0002t0047g0030 | 1 | 46 | 0.0217 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11296005 | G | GGAGAGAG others(24): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0075 | 1 | 46 | 0.0217 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
ROCK2_chr2_11174759_11349636 | 11296005 | G | GGGGAGAG others(24): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0147 | 1 | 46 | 0.0217 | 31 | c.142 others(48): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60719098 | G | GTTTGGCT others(24): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0008 | a0001c0002t0003g0080 a0001c0004t0008g0005 |
2 | 29 | 0.0690 | 31 | c.167 others(50): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RORA_chr15_60483284_61234302 | 60719098 | G | GTTTGGTT others(24): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(47): Show | a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0083 others(86): Show |
89 | 116 | 0.7672 | 31 | c.167 others(50): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
RPA2_chr1_27886524_27919575 | 27916986 | T | TCCTTCCT others(24): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 359 | 0.0028 | 31 | c.-25 others(42): Show |
RPA2 | ENSG00000117748.10 | transcript | ENST00000373912.8 | protein_coding | 2412 | chr1 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7637658 | T | TAGTTATA others(24): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0202 a0001c0001t0008g0232 a0001c0001t0008g0235 others(2): Show |
5 | 190 | 0.0263 | 31 | c.283 others(46): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7678519 | A | AATATATT others(24): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01168.hp2 HG01346.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0034 others(13): Show |
17 | 300 | 0.0567 | 31 | c.-75 others(50): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7678567 | A | AATTTATA others(24): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 306 | 0.0033 | 31 | c.-75 others(50): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679402 | T | TAATATAT others(24): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01167.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 a0001c0001t0004g0041 a0001c0001t0004g0045 others(1): Show |
5 | 36 | 0.1389 | 31 | c.-75 others(50): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679474 | T | TTATATTT others(24): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG01069.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0026 others(17): Show |
21 | 60 | 0.3500 | 31 | c.-75 others(50): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679483 | A | ATTTATAG others(24): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0239 a0001c0001t0002g0233 a0001c0001t0002g0236 others(7): Show |
10 | 300 | 0.0333 | 31 | c.-75 others(50): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPAP1_chr15_41512176_41549257 | 41537935 | A | AAATGGAA others(24): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0105 | 1 | 412 | 0.0024 | 31 | c.-76 others(46): Show |
RPAP1 | ENSG00000103932.12 | transcript | ENST00000304330.9 | protein_coding | 1/24 | chr15 | TogoVar | |||||||
RPAP2_chr1_92294059_92407056 | 92305432 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0099 | 1 | 51 | 0.0196 | 31 | c.399 others(48): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103245936 | A | AAAAAGTG others(24): Show |
5_prime_UTR_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0000 | 1 | 374 | 0.0027 | 31 | c.-58 others(38): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 1/1 | 57 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 294642 | G | GGCAGAGG others(24): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 132 | 0.0076 | 31 | c.352 others(50): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 295248 | G | GGCAGAGG others(24): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0031others(2): Show | a0001c0001t0001g0043 a0001c0001t0008g0113 a0001c0001t0031g0067 others(2): Show |
5 | 129 | 0.0388 | 31 | c.352 others(50): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 295248 | G | GGCAGAGG others(24): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 125 | 0.0080 | 31 | c.352 others(50): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315041 | T | TGCCCCAC others(24): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03453.hp2 HG03516.hp2 |
a0001a0007 | a0001c0002a0007c0014 | a0001c0002t0006a0001c0002t0029a0007c0014t0018 | a0001c0002t0006g0060 a0001c0002t0029g0103 a0007c0014t0018g0102 |
3 | 123 | 0.0244 | 31 | c.351 others(48): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315504 | T | TCCACCTC others(24): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0029 | a0001c0002t0006g0060 a0001c0002t0029g0103 |
2 | 128 | 0.0156 | 31 | c.351 others(48): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315524 | G | GTCCCTGT others(24): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0119 a0001c0001t0002g0069 a0001c0001t0003g0083 others(2): Show |
5 | 131 | 0.0382 | 31 | c.351 others(48): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3A_chr12_112786748_112903881 | 112791867 | G | GAGAGAGA others(24): Show |
5_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02622.hp1 NA18974.hp1 |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0060a0001c0002t0061a0004c0007t0059 | a0001c0002t0060g0099 a0001c0002t0061g0092 a0004c0007t0059g0079 |
3 | 9 | 0.3333 | 31 | c.-28 others(40): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 1/22 | 36451 | chr12 | TogoVar | ||||||
RPL10_chrX_154393377_154407332 | 154396712 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0002 | 1 | 155 | 0.0065 | 31 | c.-17 others(42): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 1664 | chrX | TogoVar | |||||||
RPL10_chrX_154393377_154407332 | 154396712 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 155 | 0.0065 | 31 | c.-17 others(42): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 1664 | chrX | TogoVar | |||||||
RPL13A_chr19_49482608_49497308 | 49493834 | A | ATTTTTTT others(24): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 18 | 0.0556 | 31 | c.*20 others(42): Show |
RPL13A | ENSG00000142541.18 | transcript | ENST00000391857.9 | protein_coding | 1527 | chr19 | TogoVar |