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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZD7_chr10_101002679_101036129 | 101019542 | GCCTCCTC others(17): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0400 | 1 | 432 | 0.0023 | -24 | c.929 others(39): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 7/16 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01070.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0006others(2): Show | a0001c0001t0003g0140a0001c0001t0003g0145a0001c0001t0003g0147others(21): Show | 24 | 322 | 0.0745 | -24 | c.872 others(43): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117366568 | CACCACCA others(17): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0090 | 1 | 322 | 0.0031 | -24 | c.872 others(41): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47191385 | CTGTGTGT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 426 | 0.0024 | -24 | c.-14 others(35): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 1350 | chr1 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0004a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0063a0001c0001t0001g0084a0001c0001t0001g0113others(42): Show | 45 | 206 | 0.2185 | -24 | c.844 others(45): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41545509 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0056 | a0008c0056t0001 | a0008c0056t0001g0160 | 1 | 206 | 0.0049 | -24 | c.120 others(43): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41571354 | TCTCTCTC others(17): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0012 | a0012c0048 | a0012c0048t0001 | a0012c0048t0001g0144 | 1 | 206 | 0.0049 | -24 | c.158 others(42): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEAK1_chr15_77103158_77425104 | 77313684 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0167 | 1 | 326 | 0.0031 | -24 | c.-60 others(45): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
PEAR1_chr1_156888718_156921429 | 156911170 | CCTTTCTT others(17): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0029 | a0003c0029t0010 | a0003c0029t0010g0119 | 1 | 384 | 0.0026 | -24 | c.195 others(41): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEBP4_chr8_22708251_22932914 | 22728547 | TCTTTCTT others(17): Show |
T | intron_variant | MODIFIER | HG01192.hp1 | a0020 | a0020c0017 | a0020c0017t0011 | a0020c0017t0011g0032 | 1 | 278 | 0.0036 | -24 | c.358 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22733791 | TTTGGGGA others(17): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(219): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0018others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(34): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0058others(219): Show | 222 | 278 | 0.7986 | -24 | c.358 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22810691 | TGTGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp2 HG06807.hp2 |
a0003a0007 | a0003c0003a0007c0009 | a0003c0003t0003a0007c0009t0002 | a0003c0003t0003g0081a0003c0003t0003g0135a0007c0009t0002g0172 | 3 | 278 | 0.0108 | -24 | c.357 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22855021 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03225.hp1 |
a0002a0003 | a0002c0002a0003c0013 | a0002c0002t0001a0003c0013t0004 | a0002c0002t0001g0156a0003c0013t0004g0247 | 2 | 278 | 0.0072 | -24 | c.259 others(43): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216074517 | GAAGGAAG others(17): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01070.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(2): Show | a0001c0001t0001g0329a0001c0001t0001g0330a0001c0001t0001g0333others(26): Show | 30 | 398 | 0.0754 | -24 | c.124 others(41): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4708670 | TGATTGGT others(17): Show |
T | upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0160 | 1 | 316 | 0.0032 | -24 | c.-45 others(35): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 4534 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586268 | GAAAGAAA others(17): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG03579.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0143a0003c0003t0001g0144 | 2 | 348 | 0.0058 | -24 | c.96+ others(39): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PENK_chr8_56435957_56451641 | 56447326 | TAAACCCT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 436 | 0.0023 | -24 | c.-84 others(33): Show |
PENK | ENSG00000181195.11 | transcript | ENST00000451791.7 | protein_coding | 686 | chr8 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35583115 | CTTTTTTT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0005a0001c0001t0007g0007 | 9 | 436 | 0.0206 | -24 | c.-51 others(35): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4545 | chr17 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG02165.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0051a0001c0001t0001g0142a0001c0001t0001g0159others(2): Show | 5 | 258 | 0.0194 | -24 | c.170 others(43): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG03831.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0020a0001c0001t0001g0139a0001c0001t0001g0245others(1): Show | 4 | 258 | 0.0155 | -24 | c.170 others(43): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577558 | ATATATTT others(17): Show |
A | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0065 | 1 | 258 | 0.0039 | -24 | c.170 others(43): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PF4V1_chr4_73848296_73859483 | 73855085 | ATATATAT others(17): Show |
A | downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -24 | c.*96 others(33): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 603 | chr4 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855093 | ATATATAT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -24 | c.*97 others(33): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 611 | chr4 | TogoVar | ||||||
PFAS_chr17_8244289_8275486 | 8246965 | CTTATTTA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02071.hp1 HG02109.hp1 others(8): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0009a0004c0004t0002g0156a0004c0004t0002g0157others(1): Show | 11 | 388 | 0.0284 | -24 | c.-24 others(35): Show |
PFAS | ENSG00000178921.14 | transcript | ENST00000314666.11 | protein_coding | 2323 | chr17 | TogoVar | ||||||
PFDN1_chr5_140240035_140308101 | 140264020 | CAAAAAAA others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0008others(85): Show | 91 | 330 | 0.2758 | -24 | c.285 others(43): Show |
PFDN1 | ENSG00000113068.10 | transcript | ENST00000261813.9 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
PFDN2_chr1_161095561_161123037 | 161097720 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 370 | 0.0027 | -24 | c.*29 others(35): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2840 | chr1 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6201431 | CGGAGTGG others(17): Show |
C | upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0398 | 1 | 432 | 0.0023 | -24 | c.-18 others(35): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1500 | chr10 | TogoVar | ||||||
PFKFB4_chr3_48512684_48561803 | 48559898 | CCACACAC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0149 | 1 | 246 | 0.0041 | -24 | c.-31 others(35): Show |
PFKFB4 | ENSG00000114268.12 | transcript | ENST00000232375.8 | protein_coding | 3096 | chr3 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084693 | CAGTCCTC others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(118): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(61): Show | a0001c0001t0002g0109a0001c0001t0002g0122a0001c0001t0002g0225others(118): Show | 121 | 402 | 0.3010 | -24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3084945 | TTCCCTCC others(17): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0001a0001c0004t0004a0001c0005t0010others(5): Show | a0001c0003t0001g0169a0001c0004t0004g0359a0001c0005t0010g0167others(5): Show | 8 | 402 | 0.0199 | -24 | c.186 others(41): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PGAP2_chr11_3803560_3831371 | 3814748 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012 | a0001c0001t0001g0194a0001c0001t0010g0046a0001c0001t0012g0069others(1): Show | 5 | 418 | 0.0120 | -24 | c.166 others(41): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230335646 | GACGCACA others(17): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0019 | 1 | 288 | 0.0035 | -24 | c.107 others(43): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
PGC_chr6_41731711_41752397 | 41738215 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 464 | 0.0022 | -24 | c.916 others(39): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
PGLYRP1_chr19_46014153_46028053 | 46017565 | GTTGAGAC others(17): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01516.hp1 HG01975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0059 | 4 | 456 | 0.0088 | -24 | c.*16 others(35): Show |
PGLYRP1 | ENSG00000008438.5 | transcript | ENST00000008938.5 | protein_coding | 1587 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15467838 | TTTCCTTC others(17): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01074.hp2 others(10): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0001 | a0001c0001t0001g0028a0001c0001t0001g0236a0001c0001t0001g0283others(10): Show | 13 | 382 | 0.0340 | -24 | c.*80 others(33): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 806 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482520 | TTTTCTTT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0195 | 1 | 382 | 0.0026 | -24 | c.-31 others(35): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3020 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482547 | TCTTTCTT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp2 HG03471.hp1 |
a0003a0008 | a0003c0003a0008c0009 | a0003c0003t0001a0008c0009t0001 | a0003c0003t0001g0239a0008c0009t0001g0192 | 2 | 382 | 0.0052 | -24 | c.-32 others(35): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3047 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482555 | TCTTTCTT others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 382 | 0.0026 | -24 | c.-32 others(35): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3055 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482600 | CTTCCTTC others(17): Show |
C | upstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 382 | 0.0026 | -24 | c.-32 others(35): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3100 | chr19 | TogoVar | ||||||
PGLYRP3_chr1_153292116_153317952 | 153297530 | GGAAGGAA others(17): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG02559.hp1 HG03834.hp1 |
a0004 | a0004c0004 | a0004c0004t0052a0004c0004t0114 | a0004c0004t0052g0058a0004c0004t0114g0176 | 3 | 434 | 0.0069 | -24 | c.*40 others(33): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 402 | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63647254 | TTTTACAT others(17): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0314 | 1 | 366 | 0.0027 | -24 | c.114 others(43): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63647256 | TTACATAT others(17): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02809.hp2 others(6): Show |
a0004a0006a0008others(1): Show | a0004c0004a0006c0007a0006c0013others(2): Show | a0004c0004t0003a0006c0007t0001a0006c0013t0001others(2): Show | a0004c0004t0003g0159a0006c0007t0001g0157a0006c0007t0001g0206others(6): Show | 9 | 366 | 0.0246 | -24 | c.114 others(43): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63647259 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02040.hp2 NA18990.hp2 others(3): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0021 | a0001c0001t0001a0002c0002t0001a0012c0021t0001 | a0001c0001t0001g0270a0002c0002t0001g0084a0002c0002t0001g0100others(3): Show | 6 | 366 | 0.0164 | -24 | c.114 others(43): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68357912 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0017 | a0001c0017t0025 | a0001c0017t0025g0084 | 1 | 246 | 0.0041 | -24 | c.261 others(39): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68406660 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 246 | 0.0041 | -24 | c.104 others(45): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGPEP1L_chr15_98963229_99012792 | 99002807 | GTTCCACC others(17): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG00738.hp1 others(20): Show |
a0000a0001a0003 | a0000c0002a0001c0001a0003c0004 | a0000c0002t0003a0001c0001t0003a0003c0004t0003 | a0000c0002t0003g0220a0001c0001t0003g0222a0001c0001t0003g0223others(20): Show | 23 | 398 | 0.0578 | -24 | c.-14 others(43): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101052269 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00621.hp2 others(36): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0014others(2): Show | a0001c0001t0002a0001c0003t0002a0001c0003t0028others(11): Show | a0001c0001t0002g0001a0001c0003t0002g0170a0001c0003t0002g0173others(35): Show | 39 | 254 | 0.1535 | -24 | c.221 others(41): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101053606 | CCCTCCTT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01074.hp1 others(16): Show |
a0002a0007a0008others(1): Show | a0002c0004a0002c0015a0002c0016others(3): Show | a0002c0004t0005a0002c0004t0015a0002c0004t0020others(9): Show | a0002c0004t0005g0025a0002c0004t0005g0026a0002c0004t0005g0027others(16): Show | 19 | 254 | 0.0748 | -24 | c.221 others(43): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12768809 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01993.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0022a0001c0001t0002g0024a0001c0001t0003g0039others(1): Show | 4 | 108 | 0.0370 | -24 | c.250 others(43): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12830092 | GGAAAGAA others(17): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01261.hp2 HG01361.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0003 | a0001c0001t0002g0071a0001c0001t0002g0072a0001c0001t0002g0073others(9): Show | 12 | 108 | 0.1111 | -24 | c.250 others(43): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |