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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZD7_chr10_101002679_101036129 | 101017833 | AGGAAGGA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00642.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0008a0003c0003others(1): Show | a0001c0001t0001a0002c0008t0023a0003c0003t0001others(4): Show | a0001c0001t0001g0410 a0001c0001t0001g0412 a0002c0008t0023g0272 others(8): Show |
11 | 432 | 0.0255 | -18 | c.152 others(35): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101019542 | GCCTCCTC others(11): Show |
G | intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0193 | 1 | 432 | 0.0023 | -18 | c.929 others(33): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 7/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101019571 | CTCCTCCT others(11): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0370 a0005c0005t0001g0376 |
2 | 432 | 0.0046 | -18 | c.929 others(33): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 7/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101026663 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG03239.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0002c0010others(2): Show | a0001c0001t0001a0001c0014t0002a0001c0014t0003others(6): Show | a0001c0001t0001g0255 a0001c0014t0002g0258 a0001c0014t0003g0131 others(6): Show |
9 | 432 | 0.0208 | -18 | c.227 others(35): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 2/16 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117340271 | TTACTGAG others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0044a0001c0001t0048others(1): Show | a0001c0001t0018g0177 a0001c0001t0018g0178 a0001c0001t0018g0179 others(4): Show |
7 | 322 | 0.0217 | -18 | c.995 others(33): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG03704.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0002c0003t0012a0002c0003t0013others(1): Show | a0001c0001t0001g0301 a0002c0003t0012g0298 a0002c0003t0013g0297 others(3): Show |
6 | 322 | 0.0186 | -18 | c.872 others(37): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47191385 | CTGTGTGT others(11): Show |
C | upstream_gene_variant | MODIFIER | NA18999.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0011 |
2 | 426 | 0.0047 | -18 | c.-14 others(29): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 1350 | chr1 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73565117 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 216 | 0.0046 | -18 | c.918 others(37): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73565786 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0127 | 1 | 216 | 0.0046 | -18 | c.918 others(37): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73573811 | CTATACAT others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(144): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 others(144): Show |
147 | 216 | 0.6806 | -18 | c.918 others(37): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73584483 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0092 others(68): Show |
71 | 216 | 0.3287 | -18 | c.918 others(37): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41360939 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01243.hp2 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(13): Show | a0001c0001t0001g0064 a0001c0001t0002g0110 a0002c0002t0001g0179 others(25): Show |
28 | 206 | 0.1359 | -18 | c.844 others(39): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG03486.hp2 HG03579.hp2 NA19240.hp2 |
a0001a0004 | a0001c0001a0004c0036 | a0001c0001t0001a0004c0036t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0004c0036t0001g0007 |
3 | 206 | 0.0146 | -18 | c.844 others(39): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41401758 | AGTCCAAA others(11): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01192.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0011a0002c0016a0002c0019others(6): Show | a0001c0011t0003a0002c0016t0001a0002c0019t0003others(6): Show | a0001c0011t0003g0034 a0001c0011t0003g0038 a0001c0011t0003g0052 others(19): Show |
22 | 206 | 0.1068 | -18 | c.844 others(39): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41571360 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 206 | 0.0049 | -18 | c.158 others(36): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEA15_chr1_160200384_160220372 | 160210375 | GGAAATAG others(11): Show |
G | intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 1 | 372 | 0.0027 | -18 | c.-2- others(33): Show |
PEA15 | ENSG00000162734.13 | transcript | ENST00000360472.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77408060 | GATACACA others(11): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG00741.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0054a0001c0001t0055a0001c0004t0009others(5): Show | a0001c0001t0054g0302 a0001c0001t0055g0303 a0001c0004t0009g0258 others(13): Show |
16 | 326 | 0.0491 | -18 | c.-66 others(39): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22898389 | CCCAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 |
a0005a0006 | a0005c0006a0006c0009 | a0005c0006t0002a0006c0009t0002 | a0005c0006t0002g0244 a0006c0009t0002g0165 |
2 | 278 | 0.0072 | -18 | c.258 others(37): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEG3_chr19_56805082_56845726 | 56836969 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01975.hp2 HG02647.hp2 others(6): Show |
a0001a0002a0009others(1): Show | a0001c0003a0001c0045a0002c0002others(2): Show | a0001c0003t0003a0001c0045t0003a0002c0002t0002others(3): Show | a0001c0003t0003g0035 a0001c0003t0003g0072 a0001c0045t0003g0078 others(4): Show |
9 | 416 | 0.0216 | -18 | c.-24 others(35): Show |
PEG3 | ENSG00000198300.14 | transcript | ENST00000326441.15 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PELP1_chr17_4664774_4709137 | 4698359 | AAGCTGGG others(11): Show |
A | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 316 | 0.0032 | -18 | c.249 others(35): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
PEMT_chr17_17500563_17596708 | 17586276 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 348 | 0.0029 | -18 | c.96+ others(33): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
PET117_chr20_18132863_18148169 | 18139633 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0063 a0001c0001t0002g0140 |
2 | 424 | 0.0047 | -18 | c.96+ others(33): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PET117_chr20_18132863_18148169 | 18139658 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG02083.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0007g0082 |
3 | 424 | 0.0071 | -18 | c.96+ others(33): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35570714 | TTTTCTTT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0010 | 5 | 436 | 0.0115 | -18 | c.*50 others(29): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4080 | chr17 | TogoVar | |||||||
PEX12_chr17_35569795_35583571 | 35581320 | ATATATAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | -18 | c.-33 others(29): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2750 | chr17 | TogoVar | |||||||
PEX12_chr17_35569795_35583571 | 35583115 | CTTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(126): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0011 others(13): Show |
129 | 436 | 0.2959 | -18 | c.-51 others(29): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4545 | chr17 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG02970.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0124 |
2 | 258 | 0.0078 | -18 | c.170 others(37): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX1_chr7_92482025_92533520 | 92515067 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG03453.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 a0001c0001t0001g0218 |
2 | 310 | 0.0065 | -18 | c.124 others(37): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX3_chr6_143445805_143495616 | 143448532 | TCCTCCCA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0004t0014others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0023 others(18): Show |
37 | 412 | 0.0898 | -18 | c.-25 others(29): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 2272 | chr6 | TogoVar | |||||||
PEX5L_chr3_179789958_180041937 | 179874600 | GTAAGAGG others(11): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0006 | a0001c0006t0066 | a0001c0006t0066g0110 | 1 | 220 | 0.0046 | -18 | c.630 others(33): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
PFDN2_chr1_161095561_161123037 | 161097720 | CTCTCTCT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | -18 | c.*29 others(29): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 2840 | chr1 | TogoVar | |||||||
PFKFB1_chrX_54927961_54999188 | 54980710 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | NA18990.hp1 NA19006.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0184 |
3 | 222 | 0.0135 | -18 | c.97+ others(35): Show |
PFKFB1 | ENSG00000158571.11 | transcript | ENST00000375006.8 | protein_coding | 1/13 | chrX | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3121239 | CTCTGACC others(11): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG01934.hp2 others(29): Show |
a0001a0009a0012 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0003a0001c0001t0006a0001c0002t0001others(16): Show | a0001c0001t0003g0392 a0001c0001t0006g0126 a0001c0001t0006g0223 others(29): Show |
32 | 402 | 0.0796 | -18 | c.168 others(37): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFN3_chr5_177395109_177405661 | 177399489 | CCTCCCTC others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | -18 | c.*65 others(27): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 619 | chr5 | TogoVar | |||||||
PGAP4_chr9_101468170_101492173 | 101491812 | GATATATA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02615.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0032 | a0001c0001t0001g0004 a0001c0001t0027g0145 a0001c0001t0032g0128 |
4 | 460 | 0.0087 | -18 | c.-49 others(29): Show |
PGAP4 | ENSG00000165152.9 | transcript | ENST00000374848.8 | protein_coding | 4640 | chr9 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 374944 | TGCCACCA others(11): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0156 | 1 | 376 | 0.0027 | -18 | c.144 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 8/12 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 378189 | CACTGCCA others(11): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0009 | a0009c0037 | a0009c0037t0002 | a0009c0037t0002g0106 | 1 | 376 | 0.0027 | -18 | c.122 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 378278 | ACACTGCC others(11): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 376 | 0.0027 | -18 | c.122 others(33): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230367830 | GCATTCTC others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(154): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(87): Show | a0001c0001t0002g0052 a0001c0001t0002g0066 a0001c0001t0002g0075 others(153): Show |
157 | 288 | 0.5451 | -18 | c.332 others(37): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230394627 | CCCTCCTC others(11): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0218 | 1 | 288 | 0.0035 | -18 | c.331 others(37): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGD_chr1_10394064_10425511 | 10404093 | TAGCATAA others(11): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02109.hp2 others(9): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0036 a0001c0004t0001g0071 a0001c0004t0001g0072 others(8): Show |
12 | 394 | 0.0305 | -18 | c.331 others(31): Show |
PGD | ENSG00000142657.21 | transcript | ENST00000270776.13 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGD_chr1_10394064_10425511 | 10407980 | GGTTGGTG others(11): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02896.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0003a0001c0004t0013 | a0001c0002t0001g0095 a0001c0004t0003g0023 a0001c0004t0003g0128 others(1): Show |
6 | 394 | 0.0152 | -18 | c.450 others(31): Show |
PGD | ENSG00000142657.21 | transcript | ENST00000270776.13 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGLYRP1_chr19_46014153_46028053 | 46016106 | TCGTCCCG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02615.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0002g0033 others(4): Show |
9 | 456 | 0.0197 | -18 | c.*31 others(29): Show |
PGLYRP1 | ENSG00000008438.5 | transcript | ENST00000008938.5 | protein_coding | 3046 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482218 | AACTTATA others(11): Show |
A | upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 382 | 0.0026 | -18 | c.-28 others(29): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2718 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482561 | TTTCTTCC others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0278 |
2 | 382 | 0.0052 | -18 | c.-32 others(29): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3061 | chr19 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63633866 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00735.hp1 others(10): Show |
a0002a0004a0015 | a0002c0002a0004c0004a0015c0021 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0002c0002t0001g0016 a0002c0002t0001g0084 a0002c0002t0001g0097 others(10): Show |
13 | 366 | 0.0355 | -18 | c.683 others(33): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63633902 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG04115.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 a0002c0002t0001g0232 |
2 | 366 | 0.0055 | -18 | c.683 others(33): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63633904 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0356 | 1 | 366 | 0.0027 | -18 | c.683 others(33): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63633906 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02572.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0141 a0001c0006t0003g0145 |
2 | 366 | 0.0055 | -18 | c.683 others(33): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63633908 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 366 | 0.0027 | -18 | c.683 others(33): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |