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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLCB1_chr20_8127266_8889900 | 8821493 | AAAAATAT others(22): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG03225.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0004a0001c0005a0001c0007others(2): Show | a0001c0004t0001a0001c0005t0001a0001c0007t0010others(3): Show | a0001c0004t0001g0040a0001c0005t0001g0033a0001c0007t0010g0006others(3): Show | 6 | 106 | 0.0566 | -29 | c.342 others(50): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCG2_chr16_81774291_81967685 | 81877760 | GTGTAGAT others(22): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01070.hp1 others(50): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0019a0001c0001t0021a0001c0002t0004others(40): Show | a0001c0001t0019g0073a0001c0001t0021g0088a0001c0001t0021g0089others(50): Show | 53 | 330 | 0.1606 | -29 | c.649 others(46): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PLCH1_chr3_155474881_155750071 | 155537186 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0013others(140): Show | 143 | 264 | 0.5417 | -29 | c.136 others(50): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 10/22 | chr3 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155619129 | AACTTATA others(22): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(172): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(172): Show | 175 | 264 | 0.6629 | -29 | c.80- others(46): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 2/22 | chr3 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2499434 | GGAAGAGG others(22): Show |
G | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 383 | 0.0026 | -29 | c.258 others(46): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 19/21 | chr1 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 287468 | TATACTAT others(22): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG02683.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0083a0001c0002t0001a0001c0002t0094others(2): Show | a0001c0001t0083g0085a0001c0002t0001g0154a0001c0002t0094g0140others(2): Show | 5 | 176 | 0.0284 | -29 | c.128 others(46): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLD1_chr3_171595404_171815483 | 171764916 | GAAAGAAA others(22): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0286 | 1 | 294 | 0.0034 | -29 | c.-31 others(48): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764920 | GAAAGGAA others(22): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0090 | 1 | 294 | 0.0034 | -29 | c.-31 others(48): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764924 | GGAAAGAA others(22): Show |
G | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0227 | 1 | 294 | 0.0034 | -29 | c.-31 others(48): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242143940 | AAGCGATT others(22): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG04184.hp2 NA18944.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0071a0001c0002t0073a0003c0004t0032 | a0001c0002t0071g0173a0001c0002t0073g0168a0003c0004t0032g0055 | 3 | 188 | 0.0160 | -29 | c.736 others(48): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16887303 | CTCTCCCT others(22): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02723.hp2 others(1): Show |
a0001a0012 | a0001c0001a0001c0003a0012c0043 | a0001c0001t0001a0001c0001t0003a0001c0003t0003others(1): Show | a0001c0001t0001g0079a0001c0001t0003g0080a0001c0003t0003g0172others(1): Show | 4 | 244 | 0.0164 | -29 | c.222 others(48): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA8_chr7_30023412_30089650 | 30056331 | TAAATAAC others(22): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201 | 1 | 234 | 0.0043 | -29 | c.103 others(47): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 135683 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0014 | a0014c0065 | a0014c0065t0038 | a0014c0065t0038g0166 | 1 | 210 | 0.0048 | -29 | c.244 others(46): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 2/19 | chr5 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977246 | ACCACCCC others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01123.hp1 others(49): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0010a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0001g0058a0001c0001t0003g0001a0001c0001t0007g0022others(23): Show | 52 | 422 | 0.1232 | -29 | c.*26 others(40): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1382 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977699 | GCAACCCC others(22): Show |
G | downstream_gene_variant | MODIFIER | HG02074.hp2 NA18959.hp2 NA18962.hp2 |
a0005 | a0005c0014a0005c0027 | a0005c0014t0004a0005c0027t0004 | a0005c0014t0004g0030a0005c0014t0004g0131a0005c0027t0004g0031 | 3 | 422 | 0.0071 | -29 | c.*31 others(40): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1835 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977786 | CCCAACCC others(22): Show |
C | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0002 | a0002c0042 | a0002c0042t0004 | a0002c0042t0004g0003 | 1 | 422 | 0.0024 | -29 | c.*32 others(40): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1922 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977973 | GGGAACCG others(22): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00673.hp1 others(32): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0010a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0003g0001others(29): Show | 35 | 422 | 0.0829 | -29 | c.*33 others(40): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2109 | chr1 | TogoVar | ||||||
PLEKHS1_chr10_113746682_113788429 | 113781653 | TCCTTCCC others(22): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0122 | 1 | 402 | 0.0025 | -29 | c.*88 others(38): Show |
PLEKHS1 | ENSG00000148735.16 | transcript | ENST00000694986.1 | protein_coding | 13/13 | 881 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
PLEKHS1_chr10_113746682_113788429 | 113781763 | CAACACCT others(22): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01081.hp2 others(31): Show |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0037 | a0001c0004t0004g0006a0001c0004t0004g0016a0001c0004t0004g0018others(18): Show | 34 | 402 | 0.0846 | -29 | c.*98 others(39): Show |
PLEKHS1 | ENSG00000148735.16 | transcript | ENST00000694986.1 | protein_coding | 13/13 | 983 | chr10 | TogoVar | |||||
PLPPR1_chr9_101023727_101330135 | 101078159 | AAGAAGAA others(22): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 203 | 0.0049 | -29 | c.-46 others(48): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PLPPR3_chr19_807488_826955 | 811360 | CCAGGGCC others(22): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0137 | 2 | 398 | 0.0050 | -29 | c.*11 others(40): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 1127 | chr19 | TogoVar | ||||||
PLSCR4_chr3_146187335_146256105 | 146191720 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0019a0001c0001t0009g0163 | 2 | 380 | 0.0053 | -29 | c.*26 others(40): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 614 | chr3 | TogoVar | ||||||
PLSCR4_chr3_146187335_146256105 | 146191722 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01516.hp2 HG01517.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0005 | a0001c0001t0005g0015a0001c0001t0005g0019a0001c0001t0005g0021others(18): Show | 24 | 380 | 0.0632 | -29 | c.*26 others(40): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 612 | chr3 | TogoVar | ||||||
PLSCR4_chr3_146187335_146256105 | 146191724 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 380 | 0.0026 | -29 | c.*26 others(40): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 610 | chr3 | TogoVar | ||||||
PLXNA4_chr7_132118340_132581470 | 132178719 | CACACACA others(22): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0022 | a0001c0022t0022 | a0001c0022t0022g0081 | 1 | 88 | 0.0114 | -29 | c.387 others(46): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 20/31 | chr7 | TogoVar | ||||||
PMPCA_chr9_136405658_136428761 | 136426247 | TCAGCCTC others(22): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 390 | 0.0026 | -29 | c.*29 others(40): Show |
PMPCA | ENSG00000165688.14 | transcript | ENST00000371717.8 | protein_coding | 2487 | chr9 | TogoVar | ||||||
PNPLA3_chr22_43918805_43952582 | 43921530 | CTGGGGAT others(22): Show |
C | upstream_gene_variant | MODIFIER | NA19078.hp1 | a0011 | a0011c0012 | a0011c0012t0018 | a0011c0012t0018g0053 | 1 | 420 | 0.0024 | -29 | c.-23 others(40): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2274 | chr22 | TogoVar | ||||||
PNPT1_chr2_55629061_55698844 | 55657856 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01099.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0005a0001c0004t0007g0006a0001c0004t0007g0060others(4): Show | 9 | 390 | 0.0231 | -29 | c.128 others(48): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | ||||||
PNP_chr14_20464406_20482089 | 20479599 | CATGTATT others(22): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 448 | 0.0022 | -29 | c.*29 others(40): Show |
PNP | ENSG00000198805.13 | transcript | ENST00000361505.10 | protein_coding | 2511 | chr14 | TogoVar | ||||||
POLD4_chr11_67345772_67358546 | 67347626 | AAAAAAAA others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 314 | 0.0032 | -29 | c.*43 others(40): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3145 | chr11 | TogoVar | ||||||
POLD4_chr11_67345772_67358546 | 67347628 | AAAAAAAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 314 | 0.0032 | -29 | c.*43 others(40): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3143 | chr11 | TogoVar | ||||||
POLD4_chr11_67345772_67358546 | 67347632 | AAATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 314 | 0.0032 | -29 | c.*43 others(40): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3139 | chr11 | TogoVar | ||||||
POLE2_chr14_49638555_49693214 | 49652263 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 234 | 0.0043 | -29 | c.121 others(46): Show |
POLE2 | ENSG00000100479.14 | transcript | ENST00000216367.10 | protein_coding | 15/18 | chr14 | TogoVar | ||||||
POLR2E_chr19_1081574_1100375 | 1086630 | GTTTTCTG others(22): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0070a0001c0001t0087others(1): Show | a0001c0001t0064g0098a0001c0001t0070g0108a0001c0001t0087g0248others(1): Show | 4 | 442 | 0.0091 | -29 | c.*20 others(40): Show |
POLR2E | ENSG00000099817.12 | transcript | ENST00000615234.5 | protein_coding | 8/8 | 2827 | chr19 | TogoVar | |||||
POLR3G_chr5_90469864_90519557 | 90493676 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 366 | 0.0027 | -29 | c.248 others(46): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
POLR3K_chr16_41407_58608 | 41998 | GGTAGGAG others(22): Show |
G | downstream_gene_variant | MODIFIER | NA18955.hp2 NA18975.hp2 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0016a0001c0001t0002g0085 | 4 | 432 | 0.0093 | -29 | c.*54 others(40): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 4408 | chr16 | TogoVar | ||||||
POLRMT_chr19_612221_638537 | 613603 | GGGGCCGG others(22): Show |
G | downstream_gene_variant | MODIFIER | NA19059.hp2 | a0031 | a0031c0053 | a0031c0053t0003 | a0031c0053t0003g0319 | 1 | 422 | 0.0024 | -29 | c.*36 others(40): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3617 | chr19 | TogoVar | ||||||
POP1_chr8_98112293_98164835 | 98161640 | CCCCTCCT others(22): Show |
C | downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 422 | 0.0024 | -29 | c.*33 others(40): Show |
POP1 | ENSG00000104356.11 | transcript | ENST00000401707.7 | protein_coding | 1806 | chr8 | TogoVar | ||||||
POP1_chr8_98112293_98164835 | 98161660 | CCCCTCCT others(22): Show |
C | downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 422 | 0.0024 | -29 | c.*33 others(40): Show |
POP1 | ENSG00000104356.11 | transcript | ENST00000401707.7 | protein_coding | 1826 | chr8 | TogoVar | ||||||
POTEB3_chr15_21400401_21445499 | 21404904 | CTCTTTTT others(22): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 54 | 0.0185 | -29 | c.*40 others(40): Show |
POTEB3 | ENSG00000278522.5 | transcript | ENST00000611217.5 | protein_coding | 496 | chr15 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167343632 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | HG03225.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0048 | a0001c0001t0002g0102a0001c0001t0048g0080 | 2 | 292 | 0.0069 | -29 | c.127 others(48): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PPA1_chr10_70197835_70238429 | 70220676 | TATATAAT others(22): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 408 | 0.0025 | -29 | c.124 others(46): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46205530 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0062 | 1 | 200 | 0.0050 | -29 | c.208 others(46): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARGC1A_chr4_23787021_23895047 | 23811889 | CTTTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0066a0001c0009t0039 | a0001c0001t0066g0278a0001c0009t0039g0256 | 2 | 342 | 0.0059 | -29 | c.201 others(46): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 10/12 | chr4 | TogoVar | ||||||
PPEF1_chrX_18702645_18832917 | 18745118 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0114 | 1 | 224 | 0.0045 | -29 | c.236 others(46): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PPFIA2_chr12_81252975_81764350 | 81323184 | TAAATAGC others(22): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 168 | 0.0060 | -29 | c.264 others(48): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 22/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81371289 | ATAAAAAT others(22): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(165): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0031others(165): Show | 168 | 168 | 1.0000 | -29 | c.126 others(48): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 11/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81415189 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02129.hp1 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0020a0001c0001t0004g0034 | 2 | 168 | 0.0119 | -29 | c.646 others(46): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81415191 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | NA18957.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0162a0001c0001t0004g0163 | 2 | 168 | 0.0119 | -29 | c.646 others(46): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPIAL4A_chr1_120884771_120895530 | 120885882 | ATATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | NA18951.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 280 | 0.0071 | -29 | c.-39 others(40): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 3888 | chr1 | TogoVar |