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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGPEP1_chr19_18335598_18374950 | 18364137 | T | TTTCTTTC others(20): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0277 | 1 | 412 | 0.0024 | 27 | c.*55 others(36): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 560 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
PHACTR1_chr6_12711767_13292837 | 12955192 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 108 | 0.0093 | 27 | c.251 others(46): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13195757 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 108 | 0.0093 | 27 | c.665 others(46): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13233338 | G | GATGCTTA others(20): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(101): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(101): Show | 104 | 108 | 0.9630 | 27 | c.139 others(46): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59622981 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0037a0001c0001t0001g0161a0001c0001t0001g0167others(5): Show | 8 | 250 | 0.0320 | 27 | c.118 others(46): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59635130 | T | TCTTTCTT others(20): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0155 | 1 | 250 | 0.0040 | 27 | c.118 others(46): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59635134 | T | TCTTTCTT others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG03688.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0099a0001c0001t0001g0115a0001c0001t0001g0205others(1): Show | 4 | 250 | 0.0160 | 27 | c.118 others(46): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCC others(20): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 250 | 0.0040 | 27 | c.118 others(46): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59738411 | C | CCCTGGGG others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01081.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0019others(22): Show | 26 | 250 | 0.1040 | 27 | c.119 others(44): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
PHAF1_chr16_67104941_67153544 | 67108675 | T | TATCTATC others(20): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199a0001c0001t0001g0208 | 2 | 230 | 0.0087 | 27 | c.-15 others(38): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 1265 | chr16 | TogoVar | ||||||
PHAF1_chr16_67104941_67153544 | 67108679 | T | TATCTATC others(20): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 230 | 0.0044 | 27 | c.-14 others(38): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 1261 | chr16 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170126528 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0102a0001c0001t0012g0103a0001c0001t0012g0104 | 3 | 332 | 0.0090 | 27 | c.178 others(46): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170163883 | A | AAAAAGGC others(20): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0010 | a0010c0007 | a0010c0007t0029 | a0010c0007t0029g0323 | 1 | 332 | 0.0030 | 27 | c.414 others(44): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 4/14 | chr3 | TogoVar | ||||||
PHETA1_chr12_111355679_111374095 | 111358247 | C | CTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013a0001c0001t0006g0030 | 2 | 380 | 0.0053 | 27 | c.*44 others(38): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 2431 | chr12 | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAAAAAAA others(20): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0119 | 1 | 231 | 0.0043 | 27 | c.*15 others(38): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAATATAT others(20): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp1 HG03540.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0069a0001c0001t0118a0001c0001t0126 | a0001c0001t0069g0167a0001c0001t0118g0029a0001c0001t0126g0006 | 3 | 231 | 0.0130 | 27 | c.*15 others(38): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHF12_chr17_28900250_28956518 | 28923653 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0172 | 2 | 232 | 0.0086 | 27 | c.715 others(42): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35903077 | C | CCTTTCCT others(20): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 206 | 0.0049 | 27 | c.156 others(46): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35904767 | C | CTCCTCCT others(20): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01109.hp2 HG01261.hp1 others(24): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0002a0001c0001t0004a0002c0002t0003others(2): Show | a0001c0001t0002g0092a0001c0001t0002g0157a0001c0001t0002g0171others(24): Show | 27 | 206 | 0.1311 | 27 | c.156 others(46): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF21A_chr11_45924319_46126454 | 45971890 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0192a0001c0001t0003g0114a0001c0001t0003g0116others(25): Show | 28 | 280 | 0.1000 | 27 | c.361 others(42): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45986084 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 280 | 0.0036 | 27 | c.154 others(44): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44884116 | T | TCACCACC others(20): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0133 | 1 | 300 | 0.0033 | 27 | c.137 others(44): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar | ||||||
PHF23_chr17_7230038_7244457 | 7233087 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 394 | 0.0025 | 27 | c.*25 others(38): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 1950 | chr17 | TogoVar | ||||||
PHF23_chr17_7230038_7244457 | 7243271 | A | AGGTTTCT others(20): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 394 | 0.0025 | 27 | c.-39 others(38): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 3815 | chr17 | TogoVar | ||||||
PHF3_chr6_63630802_63731011 | 63727735 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0179 | 1 | 320 | 0.0031 | 27 | c.*14 others(40): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 1725 | chr6 | TogoVar | ||||||
PHGR1_chr15_40346033_40361434 | 40358244 | T | TGCCGCCG others(20): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 436 | 0.0023 | 27 | c.*19 others(38): Show |
PHGR1 | ENSG00000233041.8 | transcript | ENST00000448599.2 | protein_coding | 1811 | chr15 | TogoVar | ||||||
PHLDB2_chr3_111854265_111981517 | 111866014 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01358.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188a0001c0001t0001g0189 | 2 | 286 | 0.0070 | 27 | c.-15 others(44): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PHLDB3_chr19_43470103_43509746 | 43487591 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02559.hp1 HG02976.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0027a0001c0001t0002g0031others(7): Show | 10 | 396 | 0.0253 | 27 | c.115 others(44): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 9/15 | chr19 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 192 | 0.0052 | 27 | c.157 others(48): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 192 | 0.0052 | 27 | c.157 others(48): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098a0001c0001t0002g0105 | 2 | 192 | 0.0104 | 27 | c.157 others(48): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | ATATACAT others(20): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 192 | 0.0052 | 27 | c.157 others(48): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG01978.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0043a0001c0002t0001g0132a0001c0008t0001g0120others(1): Show | 4 | 192 | 0.0208 | 27 | c.157 others(48): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766103 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 192 | 0.0052 | 27 | c.157 others(48): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849828 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01943.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0048 | 3 | 192 | 0.0156 | 27 | c.190 others(48): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849830 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0073 | 1 | 192 | 0.0052 | 27 | c.190 others(48): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849832 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 192 | 0.0052 | 27 | c.190 others(48): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62898015 | C | CTTCTCCT others(20): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18977.hp2 NA19066.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0002t0001g0134 | 3 | 192 | 0.0156 | 27 | c.244 others(46): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHOSPHO1_chr17_49218366_49235787 | 49232385 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 420 | 0.0024 | 27 | c.-19 others(38): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1599 | chr17 | TogoVar | ||||||
PHTF1_chr1_113691831_113764486 | 113701826 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 330 | 0.0030 | 27 | c.189 others(44): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 15/18 | chr1 | TogoVar | ||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 440 | 0.0023 | 27 | c.*54 others(38): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97642850 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0014 | 1 | 350 | 0.0029 | 27 | c.435 others(44): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | G | GTGTGTGT others(20): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 350 | 0.0029 | 27 | c.*51 others(38): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68179564 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02056.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0119a0001c0001t0003g0111a0001c0001t0003g0137others(1): Show | 4 | 260 | 0.0154 | 27 | c.148 others(46): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(20): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0086a0001c0001t0090 | a0001c0001t0086g0301a0001c0001t0090g0300 | 2 | 322 | 0.0062 | 27 | c.*50 others(38): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(20): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0223 | a0001c0001t0223g0034 | 1 | 322 | 0.0031 | 27 | c.*50 others(38): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46807384 | T | TATATATA others(20): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0245 | 1 | 322 | 0.0031 | 27 | c.*50 others(38): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5048 | chr18 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72844750 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0059 | 1 | 346 | 0.0029 | 27 | c.122 others(46): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72844752 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0045 | 1 | 346 | 0.0029 | 27 | c.122 others(46): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72844756 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01515.hp2 HG02132.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0037a0002c0002t0003g0025a0002c0002t0003g0029others(6): Show | 9 | 346 | 0.0260 | 27 | c.122 others(46): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |