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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(805): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 205 | 0.0049 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599478 | C | CAGCCCCC others(805): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0238 | 1 | 327 | 0.0031 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599478 | C | CAGCCCCC others(805): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 327 | 0.0031 | 812 | c.369 others(829): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132622895 | C | CGTTCGTG others(805): Show |
intron_variant | MODIFIER | HG01255.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0110 |
2 | 23 | 0.0870 | 812 | c.117 others(831): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(805): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0342 | 1 | 304 | 0.0033 | 812 | c.-22 others(823): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(805): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0060 | a0060c0087 | a0060c0087t0001 | a0060c0087t0001g0099 | 1 | 31 | 0.0323 | 812 | c.956 others(829): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104824253 | A | ATATTATA others(805): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 a0001c0001t0003g0055 |
2 | 68 | 0.0294 | 812 | c.683 others(831): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(805): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0015 | 2 | 235 | 0.0085 | 812 | c.-42 others(823): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(805): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0272 | 1 | 215 | 0.0047 | 812 | c.129 others(829): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(805): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 64 | 0.0156 | 812 | c.225 others(829): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(805): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0029 | 1 | 64 | 0.0156 | 812 | c.166 others(831): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(805): Show |
intron_variant | MODIFIER | HG00735.hp1 NA18946.hp2 NA18951.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0074 others(4): Show |
7 | 70 | 0.1000 | 812 | c.166 others(831): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCGGCCCA others(805): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0088 | 1 | 177 | 0.0056 | 812 | c.471 others(827): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309747 | C | CCCAGTGA others(805): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 338 | 0.0030 | 812 | c.368 others(829): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3C3_chr18_41950234_42092830 | 42060568 | T | TGAGACCA others(805): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0010 | 1 | 338 | 0.0030 | 812 | c.243 others(831): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398399 | G | GCGTCACC others(805): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 201 | 0.0050 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398439 | C | CTACCCCC others(805): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0013 a0001c0005t0001g0014 |
2 | 84 | 0.0238 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398642 | C | CTACCCCC others(805): Show |
intron_variant | MODIFIER | NA18994.hp2 NA19005.hp1 NA19067.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0121 a0001c0009t0001g0122 a0001c0009t0001g0123 |
3 | 161 | 0.0186 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398642 | C | CTACCCCC others(805): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0102 | 1 | 159 | 0.0063 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398660 | G | GCGTCACC others(805): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0036 | a0001c0036t0001 | a0001c0036t0001g0165 | 1 | 73 | 0.0137 | 812 | c.106 others(829): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492359 | G | GCCCTCCC others(805): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 271 | 0.0037 | 812 | c.126 others(831): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803011 | T | TGGGGGCC others(805): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 51 | 0.0196 | 812 | c.-51 others(823): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4936 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114044198 | G | GCCCCCCC others(805): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 40 | 0.0250 | 812 | c.278 others(829): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RBM43_chr2_151242940_151266863 | 151252893 | T | TGATACAC others(805): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0093 | 1 | 417 | 0.0024 | 812 | c.215 others(825): Show |
RBM43 | ENSG00000184898.7 | transcript | ENST00000331426.6 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242795 | C | CTACCTTC others(805): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0004 | 1 | 107 | 0.0093 | 812 | c.613 others(829): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273516 | T | TGACGTCA others(805): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 103 | 0.0097 | 812 | c.438 others(829): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(805): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0024 | 1 | 42 | 0.0238 | 812 | c.916 others(829): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(805): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 230 | 0.0043 | 812 | c.115 others(829): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 207 | 0.0048 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18954.hp1 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0258 others(1): Show |
4 | 210 | 0.0190 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 a0001c0001t0001g0269 |
2 | 208 | 0.0096 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01123.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0206 others(15): Show |
18 | 224 | 0.0804 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 207 | 0.0048 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 207 | 0.0048 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 207 | 0.0048 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 207 | 0.0048 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 207 | 0.0048 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01167.hp1 others(31): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0001a0001c0001t0004a0010c0014t0004 | a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0199 others(31): Show |
34 | 240 | 0.1417 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 207 | 0.0048 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101440014 | G | GCCCCTAC others(805): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 207 | 0.0048 | 812 | c.284 others(831): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(805): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 12 | 0.0833 | 812 | c.*22 others(823): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(805): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0100 | 1 | 264 | 0.0038 | 812 | c.189 others(829): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(805): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 264 | 0.0038 | 812 | c.189 others(829): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(805): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0075 | a0001c0001t0011g0002 a0001c0001t0075g0181 |
2 | 265 | 0.0075 | 812 | c.189 others(829): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(805): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 58 | 0.0172 | 812 | c.143 others(833): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1287745 | G | GCCTCCCC others(805): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0195 | 1 | 302 | 0.0033 | 812 | c.519 others(827): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(805): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 115 | 0.0087 | 812 | c.246 others(831): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGGTTCG others(805): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0004 | a0004c0016 | a0004c0016t0013 | a0004c0016t0013g0073 | 1 | 68 | 0.0147 | 812 | c.218 others(829): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(805): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0135 | 1 | 2 | 0.5000 | 812 | c.*53 others(823): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292619 | G | GAGTCAGC others(805): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 a0001c0001t0003g0190 |
2 | 389 | 0.0051 | 812 | c.339 others(829): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar |