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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01109.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0063 others(9): Show |
12 | 92 | 0.1304 | 9 | c.263 others(26): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 499720 | T | TCCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0199 a0001c0001t0001g0218 a0001c0001t0001g0253 others(29): Show |
32 | 139 | 0.2302 | 9 | c.581 others(26): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 506175 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(24): Show | a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0005g0058 others(59): Show |
64 | 203 | 0.3153 | 9 | c.453 others(26): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 508559 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG01074.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003a0001c0002t0005others(9): Show | a0001c0001t0005g0058 a0001c0002t0003g0032 a0001c0002t0003g0068 others(17): Show |
21 | 110 | 0.1909 | 9 | c.453 others(26): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825575 | T | TAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0159 a0001c0001t0002g0020 |
2 | 194 | 0.0103 | 9 | c.315 others(28): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825584 | T | TAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG01358.hp2 NA18952.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0002g0094 |
3 | 171 | 0.0175 | 9 | c.315 others(28): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825587 | T | TAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18964.hp1 NA18972.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0019 a0001c0001t0001g0064 a0001c0002t0006g0038 |
3 | 154 | 0.0195 | 9 | c.315 others(28): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825590 | T | TAAGAAGA others(2): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19056.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0116 a0001c0002t0002g0046 a0001c0002t0002g0100 |
3 | 128 | 0.0234 | 9 | c.315 others(28): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156903125 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02040.hp1 HG03239.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0078 others(10): Show |
13 | 179 | 0.0726 | 9 | c.119 others(28): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156914881 | G | GGGAAAGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(111): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(111): Show |
114 | 206 | 0.5534 | 9 | c.118 others(28): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104009429 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01175.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0020 a0001c0001t0002g0125 a0001c0001t0003g0112 others(8): Show |
11 | 142 | 0.0775 | 9 | c.125 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104099636 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03195.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0013 | a0001c0001t0002g0068 a0001c0002t0001g0136 a0001c0002t0001g0194 others(1): Show |
4 | 48 | 0.0833 | 9 | c.124 others(28): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17579556 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01515.hp2 HG01978.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0112 a0001c0001t0001g0139 a0001c0001t0001g0156 others(7): Show |
10 | 183 | 0.0546 | 9 | c.55+ others(24): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDHA1_chrX_19338927_19366718 | 19341295 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0006g0043 others(2): Show |
5 | 160 | 0.0313 | 9 | c.-27 others(20): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 2631 | chrX | TogoVar | |||||||
PDHA1_chrX_19338927_19366718 | 19364893 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0018 | a0001c0002t0002g0006 a0001c0002t0002g0017 a0001c0002t0002g0037 others(3): Show |
7 | 165 | 0.0424 | 9 | c.*52 others(20): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 3176 | chrX | TogoVar | |||||||
PDHX_chr11_34911618_35001128 | 34936784 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03704.hp1 HG04199.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0076 others(3): Show |
6 | 295 | 0.0203 | 9 | c.241 others(26): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 282903 | T | TCCCCTGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG02273.hp1 HG02723.hp2 others(6): Show |
a0001a0006a0007others(1): Show | a0001c0001a0006c0013a0007c0007others(1): Show | a0001c0001t0001a0006c0013t0001a0007c0007t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 others(5): Show |
9 | 405 | 0.0222 | 9 | c.-26 others(18): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 260 | chr16 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 289743 | G | GCCCGCTG others(2): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG03516.hp1 |
a0006a0015 | a0006c0014a0015c0021 | a0006c0014t0001a0015c0021t0001 | a0006c0014t0001g0111 a0015c0021t0001g0028 |
3 | 427 | 0.0070 | 9 | c.*26 others(20): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 2529 | chr16 | TogoVar | |||||||
PDIA3_chr15_43741438_43778278 | 43750060 | A | AGCTTGCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(292): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0049 others(173): Show |
295 | 356 | 0.8287 | 9 | c.167 others(26): Show |
PDIA3 | ENSG00000167004.14 | transcript | ENST00000300289.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123101906 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02293.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0169 a0001c0001t0001g0183 others(3): Show |
6 | 72 | 0.0833 | 9 | c.258 others(24): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10803505 | C | CACATTAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(136): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0005a0002c0002others(4): Show | a0001c0003t0001a0001c0003t0006a0001c0003t0008others(9): Show | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(128): Show |
139 | 340 | 0.4088 | 9 | c.20- others(22): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10803911 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp1 others(64): Show |
a0001a0002a0005 | a0001c0003a0001c0005a0002c0002others(3): Show | a0001c0003t0001a0001c0003t0006a0001c0005t0003others(5): Show | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(61): Show |
67 | 257 | 0.2607 | 9 | c.20- others(24): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10816522 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0004a0001c0012 | a0001c0004t0002a0001c0012t0002 | a0001c0004t0002g0023 a0001c0004t0002g0254 a0001c0004t0002g0255 others(2): Show |
6 | 301 | 0.0199 | 9 | c.-38 others(20): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 3738 | chr2 | TogoVar | |||||||
PDILT_chr16_20354175_20409737 | 20361205 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01975.hp1 HG02004.hp1 others(7): Show |
a0003a0004a0006others(1): Show | a0003c0002a0004c0006a0006c0010others(1): Show | a0003c0002t0001a0004c0006t0001a0006c0010t0001others(2): Show | a0003c0002t0001g0075 a0003c0002t0001g0277 a0003c0002t0001g0302 others(7): Show |
10 | 259 | 0.0386 | 9 | c.141 others(26): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 10/11 | chr16 | TogoVar | |||||||
PDK1_chr2_172551090_172613669 | 172605368 | A | ATTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp2 HG02738.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0090a0001c0002t0022a0001c0002t0085others(1): Show | a0001c0001t0090g0008 a0001c0002t0022g0041 a0001c0002t0022g0052 others(3): Show |
6 | 190 | 0.0316 | 9 | c.*94 others(20): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 11/11 | 9424 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PDK3_chrX_24460286_24539422 | 24465305 | T | TGCTGCTG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02004.hp2 HG02273.hp2 NA18947.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0158 others(3): Show |
6 | 256 | 0.0234 | 9 | c.-14 others(18): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 1/11 | 139 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PDLIM1_chr10_95232572_95296003 | 95256986 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03540.hp2 HG03927.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0182 a0001c0001t0001g0185 others(2): Show |
5 | 91 | 0.0549 | 9 | c.533 others(26): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22591298 | G | GACACGTC others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02258.hp1 HG02572.hp2 others(11): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0002a0002c0003t0002others(2): Show | a0001c0001t0002g0036 a0001c0001t0002g0082 a0001c0001t0002g0087 others(11): Show |
14 | 378 | 0.0370 | 9 | c.764 others(24): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDLIM2_chr8_22575475_22599298 | 22592038 | C | CATTTTTC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(123): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0037 others(103): Show |
126 | 378 | 0.3333 | 9 | c.881 others(24): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94478888 | G | GTGTTTTT others(2): Show |
intron_variant | MODIFIER | HG02717.hp2 NA20300.hp1 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0022a0003c0004t0001 | a0002c0003t0022g0185 a0003c0004t0001g0186 |
2 | 216 | 0.0093 | 9 | c.96+ others(26): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94564656 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01081.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0005g0002 a0001c0002t0002g0016 a0001c0002t0002g0017 others(23): Show |
26 | 101 | 0.2574 | 9 | c.249 others(26): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDPK1_chr16_2533021_2608188 | 2533275 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0018a0001c0002t0002others(2): Show | a0001c0001t0003g0003 a0001c0001t0003g0170 a0001c0001t0003g0172 others(11): Show |
14 | 18 | 0.7778 | 9 | c.-48 others(20): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 4745 | chr16 | TogoVar | |||||||
PDPR_chr16_70109332_70167537 | 70150531 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp1 others(81): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0017others(6): Show | a0001c0001t0071a0001c0005t0016a0001c0005t0020others(23): Show | a0001c0001t0071g0251 a0001c0005t0016g0033 a0001c0005t0016g0034 others(75): Show |
84 | 222 | 0.3784 | 9 | c.205 others(28): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39949821 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(92): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(92): Show |
95 | 106 | 0.8962 | 9 | c.139 others(28): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32655375 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019 | a0001c0001t0008g0215 a0001c0001t0019g0290 a0001c0001t0019g0291 |
3 | 214 | 0.0140 | 9 | c.313 others(26): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | chr13 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32692414 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01071.hp2 others(15): Show |
a0001a0004 | a0001c0002a0004c0014 | a0001c0002t0002a0001c0002t0006a0001c0002t0010others(4): Show | a0001c0002t0002g0208 a0001c0002t0002g0241 a0001c0002t0002g0248 others(15): Show |
18 | 157 | 0.1147 | 9 | c.147 others(28): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 13/34 | chr13 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32711791 | C | CATATGTA others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0233 a0001c0002t0006g0234 a0001c0002t0006g0235 others(1): Show |
4 | 332 | 0.0120 | 9 | c.212 others(28): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32775097 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01981.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0050 | a0001c0001t0005g0051 a0001c0001t0005g0123 a0001c0001t0005g0128 others(11): Show |
14 | 17 | 0.8235 | 9 | c.*52 others(16): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 35/35 | 61 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDSS2_chr6_107147562_107464564 | 107198800 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG00741.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0053 a0001c0001t0002g0029 a0001c0001t0002g0030 others(9): Show |
12 | 50 | 0.2400 | 9 | c.100 others(28): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107207978 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02135.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0138 a0001c0001t0001g0187 a0001c0001t0001g0198 others(3): Show |
6 | 78 | 0.0769 | 9 | c.100 others(28): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107207980 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02129.hp1 HG04115.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0087 others(3): Show |
6 | 258 | 0.0233 | 9 | c.100 others(28): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107225162 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02055.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0172 a0001c0001t0001g0218 others(9): Show |
12 | 231 | 0.0519 | 9 | c.703 others(28): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107225164 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0003g0129 |
3 | 224 | 0.0134 | 9 | c.703 others(28): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107286136 | T | TAAAATAA others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18612.hp2 NA18942.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0068 a0001c0001t0001g0165 a0001c0001t0001g0166 others(4): Show |
7 | 75 | 0.0933 | 9 | c.432 others(28): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31694402 | C | CAAACAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02280.hp2 others(5): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0003c0004others(4): Show | a0001c0001t0001a0002c0003t0002a0003c0004t0026others(4): Show | a0001c0001t0001g0091 a0002c0003t0002g0147 a0002c0003t0002g0197 others(5): Show |
8 | 181 | 0.0442 | 9 | c.-36 others(30): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31752068 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(51): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0001c0026others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(33): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0064 others(51): Show |
54 | 144 | 0.3750 | 9 | c.-36 others(30): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31791627 | A | AAAAGCAC others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0026others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0049 a0001c0001t0001g0146 a0001c0001t0001g0152 others(37): Show |
40 | 214 | 0.1869 | 9 | c.-36 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31880791 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01891.hp2 HG01952.hp2 others(2): Show |
a0001a0003a0014others(1): Show | a0001c0001a0003c0004a0014c0051others(1): Show | a0001c0001t0001a0003c0004t0002a0003c0004t0011others(2): Show | a0001c0001t0001g0038 a0003c0004t0002g0113 a0003c0004t0011g0163 others(2): Show |
5 | 184 | 0.0272 | 9 | c.476 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31912313 | A | ATAAGGAC others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18906.hp2 |
a0001 | a0001c0036a0001c0050 | a0001c0036t0019a0001c0050t0036 | a0001c0036t0019g0211 a0001c0050t0036g0187 |
2 | 214 | 0.0093 | 9 | c.477 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31978714 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG02451.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0005a0002c0003t0011others(2): Show | a0001c0001t0001g0125 a0002c0002t0005g0007 a0002c0003t0011g0105 others(2): Show |
5 | 22 | 0.2273 | 9 | c.477 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |