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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKRIP1_chr7_102391363_102431666 | 102431117 | T | TGTGTGTG others(20): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0154 | 1 | 8 | 0.1250 | 27 | c.*60 others(38): Show |
PRKRIP1 | ENSG00000128563.13 | transcript | ENST00000397912.3 | protein_coding | 4452 | chr7 | TogoVar | |||||||
PRKRIP1_chr7_102391363_102431666 | 102431142 | T | TGTGTGTG others(20): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 378 | 0.0026 | 27 | c.*60 others(38): Show |
PRKRIP1 | ENSG00000128563.13 | transcript | ENST00000397912.3 | protein_coding | 4477 | chr7 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3613854 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0169 | 1 | 39 | 0.0256 | 27 | c.952 others(44): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 7/8 | chrX | TogoVar | |||||||
PRLH_chr2_237561574_237572175 | 237565982 | T | TACCCAAT others(20): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 399 | 0.0050 | 27 | c.-59 others(36): Show |
PRLH | ENSG00000071677.1 | transcript | ENST00000165524.1 | protein_coding | 591 | chr2 | TogoVar | |||||||
PRMT8_chr12_3486203_3598973 | 3490675 | A | AGAGAGAG others(20): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 22 | 0.0455 | 27 | c.-95 others(36): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 527 | chr12 | TogoVar | |||||||
PRMT8_chr12_3486203_3598973 | 3493561 | G | GGTGCAGA others(20): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0087 | 1 | 362 | 0.0028 | 27 | c.75+ others(42): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 119 | 0.0084 | 27 | c.75+ others(42): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496214 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 120 | 0.0167 | 27 | c.75+ others(42): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRMT8_chr12_3486203_3598973 | 3496215 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA18967.hp1 NA18994.hp2 NA19084.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0278 a0001c0002t0002g0282 a0001c0003t0001g0277 |
3 | 310 | 0.0097 | 27 | c.75+ others(42): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
PRMT8_chr12_3486203_3598973 | 3558225 | T | TCTCCCCT others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0325 | 1 | 352 | 0.0028 | 27 | c.481 others(44): Show |
PRMT8 | ENSG00000111218.12 | transcript | ENST00000382622.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRODH_chr22_18907781_18941293 | 18925945 | C | CGGGGCTC others(20): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19043.hp1 NA19043.hp2 |
a0001a0016a0046 | a0001c0029a0016c0086a0046c0084 | a0001c0029t0001a0016c0086t0002a0046c0084t0002 | a0001c0029t0001g0114 a0016c0086t0002g0261 a0046c0084t0002g0200 |
3 | 408 | 0.0074 | 27 | c.483 others(42): Show |
PRODH | ENSG00000100033.17 | transcript | ENST00000357068.11 | protein_coding | 2/13 | chr22 | TogoVar | |||||||
PROSER2_chr10_11818356_11877277 | 11842931 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18953.hp1 NA19074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0134 others(2): Show |
5 | 10 | 0.5000 | 27 | c.-81 others(44): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133749 | T | TCTCTCCA others(20): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 | 1 | 216 | 0.0046 | 27 | c.*23 others(38): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2037 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133749 | T | TCTCTCCA others(20): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 216 | 0.0046 | 27 | c.*23 others(38): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2037 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133853 | T | TCTCTCTC others(20): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 225 | 0.0044 | 27 | c.*24 others(38): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2141 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133990 | T | TCCCTCTC others(20): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG03654.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | 224 | 0.0134 | 27 | c.*25 others(38): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2278 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54134282 | C | CCTCCCTC others(20): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 226 | 0.0044 | 27 | c.*28 others(38): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2570 | chr19 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0323 | 1 | 217 | 0.0046 | 27 | c.582 others(42): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 217 | 0.0046 | 27 | c.582 others(42): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0222 | 1 | 217 | 0.0046 | 27 | c.582 others(42): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPSAP2_chr17_18853131_18936287 | 18857609 | T | TTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0390 | 1 | 390 | 0.0026 | 27 | c.-78 others(36): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 521 | chr17 | TogoVar | |||||||
PRPSAP2_chr17_18853131_18936287 | 18886151 | T | TAGCAAAT others(20): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0088 | 1 | 390 | 0.0026 | 27 | c.528 others(44): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 7/11 | chr17 | TogoVar | |||||||
PRR14L_chr22_31676347_31755132 | 31677600 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0010 | a0010c0011 | a0010c0011t0004 | a0010c0011t0004g0090 | 1 | 295 | 0.0034 | 27 | c.*79 others(38): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3746 | chr22 | TogoVar | |||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0023 | a0023c0040 | a0023c0040t0003 | a0023c0040t0003g0060 | 1 | 155 | 0.0065 | 27 | c.*79 others(38): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | |||||||
PRR14L_chr22_31676347_31755132 | 31677604 | A | AAAAATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0012 | a0012c0020 | a0012c0020t0028 | a0012c0020t0028g0300 | 1 | 155 | 0.0065 | 27 | c.*79 others(38): Show |
PRR14L | ENSG00000183530.14 | transcript | ENST00000327423.11 | protein_coding | 3742 | chr22 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36351006 | T | TTTTTAAT others(20): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01192.hp2 others(8): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0017 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 others(8): Show |
11 | 270 | 0.0407 | 27 | c.-12 others(48): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131420493 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG03041.hp1 |
a0002 | a0002c0006 | a0002c0006t0005a0002c0006t0018 | a0002c0006t0005g0167 a0002c0006t0005g0171 a0002c0006t0018g0170 |
3 | 94 | 0.0319 | 27 | c.-51 others(44): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171569593 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0215 | 1 | 333 | 0.0030 | 27 | c.665 others(46): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 23/34 | chr1 | TogoVar | |||||||
PRRT1B_chr9_131540523_131564815 | 131555120 | C | CCTTGCAG others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(310): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0019others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0003 a0001c0001t0001g0109 a0001c0001t0001g0112 others(149): Show |
313 | 456 | 0.6864 | 27 | c.498 others(40): Show |
PRRT1B | ENSG00000283526.2 | transcript | ENST00000636672.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRT4_chr7_128345325_128366690 | 128364062 | A | AGGAGGGG others(20): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0162 | 1 | 446 | 0.0022 | 27 | c.-26 others(38): Show |
PRRT4 | ENSG00000224940.10 | transcript | ENST00000446477.7 | protein_coding | 2373 | chr7 | TogoVar | |||||||
PRRX1_chr1_170659131_170744421 | 170669425 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18988.hp1 NA19080.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0158 |
3 | 41 | 0.0732 | 27 | c.241 others(44): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRSS12_chr4_118275038_118358003 | 118316837 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0169 | 1 | 115 | 0.0087 | 27 | c.115 others(44): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10540778 | C | CGTCCAGT others(20): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0101 | 1 | 478 | 0.0021 | 27 | c.*19 others(38): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 1960 | chr8 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24880872 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 336 | 0.0030 | 27 | c.340 others(44): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55645433 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 a0001c0001t0002g0268 |
2 | 48 | 0.0417 | 27 | c.204 others(46): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 11/19 | chr15 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76855082 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0015 | a0003c0015t0003 | a0003c0015t0003g0159 | 1 | 150 | 0.0067 | 27 | c.37- others(40): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | C | CTTATATA others(20): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01255.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0023others(1): Show | a0001c0001t0003g0006 a0001c0001t0003g0076 a0001c0001t0003g0078 others(4): Show |
8 | 33 | 0.2424 | 27 | c.-18 others(38): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | |||||||
PSD2_chr5_139790808_139849466 | 139830572 | T | TCCTTTCT others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0025 | 1 | 273 | 0.0037 | 27 | c.127 others(46): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18828067 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0006 | a0006c0012 | a0006c0012t0033 | a0006c0012t0033g0194 | 1 | 156 | 0.0064 | 27 | c.163 others(48): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18828067 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0172 | 1 | 156 | 0.0064 | 27 | c.163 others(48): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73151895 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01975.hp1 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0272 a0001c0001t0006g0281 a0001c0001t0006g0283 |
3 | 362 | 0.0083 | 27 | c.87+ others(42): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
PSG5_chr19_43162743_43191536 | 43182705 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00741.hp1 others(10): Show |
a0001a0019 | a0001c0001a0019c0023 | a0001c0001t0001a0019c0023t0001 | a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0049 others(4): Show |
13 | 77 | 0.1688 | 27 | c.430 others(44): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15497325 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0041 a0001c0002t0004g0050 |
2 | 185 | 0.0108 | 27 | c.150 others(44): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSMA1_chr11_14499876_14525386 | 14521135 | G | GTCTGACA others(20): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(294): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(116): Show |
297 | 410 | 0.7244 | 27 | c.-83 others(36): Show |
PSMA1 | ENSG00000129084.18 | transcript | ENST00000396394.7 | protein_coding | 750 | chr11 | TogoVar | |||||||
PSMA3_chr14_58239843_58277004 | 58258762 | A | ACATGTTT others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0118 |
3 | 330 | 0.0091 | 27 | c.404 others(42): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103364981 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 365 | 0.0027 | 27 | c.756 others(42): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PSMC4_chr19_39966165_39986764 | 39985431 | G | GCGTAAAT others(20): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 356 | 0.0028 | 27 | c.*41 others(38): Show |
PSMC4 | ENSG00000013275.8 | transcript | ENST00000157812.7 | protein_coding | 3668 | chr19 | TogoVar | |||||||
PSMD14_chr2_161303425_161416717 | 161357076 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0188 a0001c0001t0001g0204 others(22): Show |
25 | 43 | 0.5814 | 27 | c.49- others(44): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTGT others(20): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 35 | 0.0286 | 27 | c.571 others(44): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTTT others(20): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02056.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0146 a0001c0001t0002g0020 a0001c0001t0002g0084 |
3 | 37 | 0.0811 | 27 | c.571 others(44): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |