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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHAF1_chr16_67104941_67153544 | 67108675 | T | TATCTATC others(20): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0208 |
2 | 226 | 0.0088 | 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 | 220 | 0.0045 | 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 | a0001c0001t0013 | a0001c0001t0013g0101 a0001c0001t0013g0102 a0001c0001t0013g0103 |
3 | 117 | 0.0256 | 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 | a0007 | a0007c0007 | a0007c0007t0027 | a0007c0007t0027g0322 | 1 | 328 | 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 | a0001c0001t0006g0013 a0001c0001t0006g0030 |
2 | 100 | 0.0200 | 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 | a0001c0001t0060 | a0001c0001t0060g0119 | 1 | 70 | 0.0143 | 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 | a0001c0001t0003a0001c0001t0011a0001c0001t0068 | a0001c0001t0003g0029 a0001c0001t0011g0170 a0001c0001t0068g0005 |
3 | 72 | 0.0417 | 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 | a0001c0001t0001g0161 a0001c0001t0001g0170 |
2 | 64 | 0.0313 | 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 | 92 | 0.0109 | 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 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0002a0001c0001t0004a0002c0002t0003others(2): Show | a0001c0001t0002g0092 a0001c0001t0002g0157 a0001c0001t0002g0171 others(24): Show |
27 | 28 | 0.9643 | 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 | a0001c0001t0001g0182 a0001c0001t0003g0104 a0001c0001t0003g0105 others(25): Show |
28 | 33 | 0.8485 | 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 | 32 | 0.0313 | 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 | a0001c0005t0013g0137 | 1 | 279 | 0.0036 | 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 | 166 | 0.0060 | 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 | 385 | 0.0026 | 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 | a0001c0001t0013 | a0001c0001t0013g0193 | 1 | 220 | 0.0045 | 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 | a0002c0002t0001g0007 | 1 | 395 | 0.0025 | 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 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | 28 | 0.0714 | 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 | a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0032 others(7): Show |
10 | 319 | 0.0313 | 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 | 22 | 0.0455 | 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 | 22 | 0.0455 | 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 | a0001c0001t0002g0101 a0001c0001t0002g0105 |
2 | 23 | 0.0870 | 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 | 22 | 0.0455 | 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 | a0001c0001t0001g0043 a0001c0002t0001g0132 a0001c0008t0001g0120 others(1): Show |
4 | 25 | 0.1600 | 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 | 186 | 0.0054 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0048 |
3 | 133 | 0.0226 | 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 | a0004 | a0004c0019 | a0004c0019t0001 | a0004c0019t0001g0073 | 1 | 91 | 0.0110 | 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 | a0001c0001t0002g0097 | 1 | 11 | 0.0909 | 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 | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0002t0001g0134 |
3 | 117 | 0.0256 | 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 | a0001c0001t0003g0024 | 1 | 120 | 0.0083 | 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 | a0001c0001t0001g0114 | 1 | 95 | 0.0105 | 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 | a0001c0001t0001g0218 | 1 | 46 | 0.0217 | 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 | a0001c0002t0021g0029 | 1 | 122 | 0.0082 | 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 | a0001c0001t0001g0225 | 1 | 144 | 0.0069 | 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 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0132 a0001c0001t0003g0124 a0001c0001t0003g0154 others(1): Show |
4 | 33 | 0.1212 | 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 | a0001c0001t0081a0001c0001t0083 | a0001c0001t0081g0300 a0001c0001t0083g0299 |
2 | 42 | 0.0476 | 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 | a0001c0001t0132 | a0001c0001t0132g0037 | 1 | 41 | 0.0244 | 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 | a0001c0001t0046 | a0001c0001t0046g0244 | 1 | 313 | 0.0032 | 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 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 325 | 0.0031 | 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 | a0002c0002t0001 | a0002c0002t0001g0123 | 1 | 329 | 0.0030 | 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 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0116 a0002c0002t0001g0129 a0002c0002t0001g0141 others(6): Show |
9 | 343 | 0.0262 | 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 | 72904433 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18983.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0244 a0001c0001t0001g0308 |
3 | 18 | 0.1667 | 27 | c.148 others(46): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229134231 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03492.hp2 HG03834.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0221 others(5): Show |
8 | 36 | 0.2222 | 27 | c.177 others(46): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIERCE2_chr15_55403495_55423798 | 55412585 | G | GCATGATT others(20): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 414 | 0.0024 | 27 | c.18+ others(42): Show |
PIERCE2 | ENSG00000261652.3 | transcript | ENST00000569691.2 | protein_coding | 1/1 | chr15 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88723990 | G | GAGAGCCA others(20): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 280 | 0.0036 | 27 | c.423 others(42): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 30/50 | chr16 | TogoVar | |||||||
PIGK_chr1_77083989_77224430 | 77171436 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0191 | 1 | 59 | 0.0169 | 27 | c.240 others(44): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16311467 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01496.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0025 a0001c0001t0001g0119 a0001c0001t0001g0122 others(5): Show |
8 | 10 | 0.8000 | 27 | c.427 others(44): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGN_chr18_62036164_62192056 | 62062882 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 42 | 0.0238 | 27 | c.267 others(46): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196948888 | C | CCCTTCCT others(20): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 NA18906.hp1 |
a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0046 a0004c0009t0001g0311 |
3 | 391 | 0.0077 | 27 | c.212 others(42): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196960764 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01981.hp1 |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0003 | a0002c0005t0001g0249 a0002c0005t0003g0127 |
2 | 421 | 0.0048 | 27 | c.-1+ others(42): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 1/2 | chr3 | TogoVar |