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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PET100_chr19_7624793_7636956 | 7628642 | A | AGGCCTCT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0002g0004 others(3): Show |
38 | 400 | 0.0950 | 7 | c.-11 others(18): Show |
PET100 | ENSG00000229833.11 | transcript | ENST00000594797.6 | protein_coding | 1150 | chr19 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG02717.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0009others(1): Show | a0001c0002t0001g0095 a0001c0002t0003g0013 a0001c0002t0003g0096 others(2): Show |
12 | 160 | 0.0750 | 7 | c.*44 others(18): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | |||||||
PEX12_chr17_35569795_35583571 | 35581287 | T | TATATAAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015 a0001c0001t0011g0031 |
4 | 248 | 0.0161 | 7 | c.-32 others(18): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2717 | chr17 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10537341 | A | ACCCCCCC | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0092 others(13): Show |
16 | 26 | 0.6154 | 7 | c.169 others(24): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10570848 | G | GTTTGTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(68): Show |
71 | 163 | 0.4356 | 7 | c.170 others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10570848 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0089 a0001c0001t0001g0116 a0001c0001t0001g0252 others(38): Show |
42 | 134 | 0.3134 | 7 | c.170 others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196024 | C | CATTATAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(139): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0010others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0015 others(84): Show |
142 | 424 | 0.3349 | 7 | c.449 others(24): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196033 | T | TTATATAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(213): Show |
274 | 425 | 0.6447 | 7 | c.449 others(24): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PFAS_chr17_8244289_8275486 | 8248410 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(76): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0002c0035others(9): Show | a0001c0001t0001a0001c0001t0013a0002c0002t0002others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 others(40): Show |
79 | 146 | 0.5411 | 7 | c.-10 others(18): Show |
PFAS | ENSG00000178921.14 | transcript | ENST00000314666.11 | protein_coding | 878 | chr17 | TogoVar | |||||||
PFDN4_chr20_54203087_54224961 | 54207063 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00741.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(8): Show |
32 | 273 | 0.1172 | 7 | c.-10 others(18): Show |
PFDN4 | ENSG00000101132.10 | transcript | ENST00000371419.7 | protein_coding | 1023 | chr20 | TogoVar | |||||||
PFDN4_chr20_54203087_54224961 | 54224204 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01167.hp2 HG02273.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0002g0097 |
6 | 17 | 0.3529 | 7 | c.*50 others(18): Show |
PFDN4 | ENSG00000101132.10 | transcript | ENST00000371419.7 | protein_coding | 4244 | chr20 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6199658 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01175.hp1 NA18944.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0264 a0001c0001t0003g0387 a0001c0001t0003g0388 others(3): Show |
6 | 104 | 0.0577 | 7 | c.-36 others(18): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 3273 | chr10 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6208371 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01358.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0243 a0001c0001t0001g0252 a0001c0001t0002g0244 others(9): Show |
12 | 49 | 0.2449 | 7 | c.76+ others(22): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6235011 | T | TGGACGGG | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01069.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0001t0030a0001c0001t0062others(6): Show | a0001c0001t0007g0012 a0001c0001t0007g0041 a0001c0001t0007g0044 others(17): Show |
21 | 430 | 0.0488 | 7 | c.*20 others(18): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 15/15 | 2079 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3081977 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01928.hp2 HG02145.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0027others(4): Show | a0001c0002t0004a0001c0005t0002a0001c0005t0003others(5): Show | a0001c0002t0004g0184 a0001c0005t0002g0329 a0001c0005t0003g0187 others(6): Show |
9 | 13 | 0.6923 | 7 | c.113 others(22): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3087984 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0007others(2): Show | a0001c0002t0004a0001c0005t0002a0001c0005t0007others(3): Show | a0001c0002t0004g0184 a0001c0005t0002g0005 a0001c0005t0002g0329 others(5): Show |
8 | 221 | 0.0362 | 7 | c.186 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3097077 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02056.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(7): Show | a0001c0001t0002g0111 a0001c0001t0004g0382 a0001c0002t0002g0045 others(7): Show |
10 | 86 | 0.1163 | 7 | c.187 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3098672 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(76): Show |
a0001a0006a0010 | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0002g0023 a0001c0001t0002g0250 a0001c0001t0002g0309 others(76): Show |
79 | 87 | 0.9080 | 7 | c.187 others(22): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGA3_chr11_61198515_61218098 | 61205994 | T | TTAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01496.hp2 HG02630.hp1 others(6): Show |
a0002a0004a0009 | a0002c0002a0004c0010a0009c0022 | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(2): Show | a0002c0002t0001g0027 a0002c0002t0001g0083 a0002c0002t0001g0084 others(5): Show |
9 | 310 | 0.0290 | 7 | c.220 others(22): Show |
PGA3 | ENSG00000229859.10 | transcript | ENST00000325558.11 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
PGA4_chr11_61217347_61236694 | 61223842 | T | TGGCACAG | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(157): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 160 | 304 | 0.5263 | 7 | c.219 others(22): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61224823 | T | TTAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(145): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 148 | 299 | 0.4950 | 7 | c.220 others(22): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
PGA5_chr11_61236175_61256444 | 61242668 | T | TGGCACAG | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG01515.hp2 others(23): Show |
a0001a0012 | a0001c0001a0001c0005a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0002others(5): Show | a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 others(15): Show |
26 | 404 | 0.0644 | 7 | c.219 others(22): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PGA5_chr11_61236175_61256444 | 61243649 | T | TTAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG02027.hp2 others(17): Show |
a0001a0012 | a0001c0001a0001c0005a0001c0013others(3): Show | a0001c0001t0003a0001c0005t0002a0001c0013t0002others(3): Show | a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0047 others(9): Show |
20 | 404 | 0.0495 | 7 | c.220 others(22): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425907 | A | AACCCGCC | upstream_gene_variant | MODIFIER | HG02132.hp2 HG02258.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0006 a0001c0001t0002g0028 a0001c0003t0001g0038 |
5 | 426 | 0.0117 | 7 | c.-40 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 283 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425908 | A | ACCCGCCG | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00673.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show |
45 | 334 | 0.1347 | 7 | c.-40 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 282 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425912 | G | GCCGCCCT | upstream_gene_variant | MODIFIER | HG01934.hp1 NA18965.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0074 |
3 | 432 | 0.0069 | 7 | c.-39 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 278 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425919 | G | GCCGCCCT | upstream_gene_variant | MODIFIER | HG02523.hp1 HG03486.hp1 HG03540.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(3): Show |
9 | 397 | 0.0227 | 7 | c.-38 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 271 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCT | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01433.hp1 HG02165.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show |
12 | 214 | 0.0561 | 7 | c.-38 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGAM5_chr12_132705842_132727734 | 132707728 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00639.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(4): Show | a0001c0001t0003g0172 a0001c0001t0003g0212 a0001c0001t0004g0141 others(14): Show |
20 | 188 | 0.1064 | 7 | c.-31 others(18): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 3113 | chr12 | TogoVar | |||||||
PGAP1_chr2_196828004_196931707 | 196832775 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02735.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0027others(2): Show | a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0005g0006 others(3): Show |
6 | 14 | 0.4286 | 7 | c.*84 others(18): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 228 | chr2 | TogoVar | |||||||
PGAP1_chr2_196828004_196931707 | 196896828 | T | TAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0005 | a0001c0001t0002a0001c0001t0011a0001c0006t0002others(1): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0132 others(26): Show |
31 | 123 | 0.2520 | 7 | c.927 others(22): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 7/26 | chr2 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230312430 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01192.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0001t0007a0001c0001t0040others(13): Show | a0001c0001t0004g0090 a0001c0001t0004g0140 a0001c0001t0004g0147 others(29): Show |
32 | 166 | 0.1928 | 7 | c.*10 others(20): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 2059 | chr1 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230400666 | G | GAAATGTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01358.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(11): Show | a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0142 others(17): Show |
21 | 286 | 0.0734 | 7 | c.331 others(26): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGD_chr1_10394064_10425511 | 10403590 | G | GAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01243.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0009a0001c0002t0001others(4): Show | a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0009g0032 others(22): Show |
32 | 224 | 0.1429 | 7 | c.330 others(22): Show |
PGD | ENSG00000142657.21 | transcript | ENST00000270776.13 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGD_chr1_10394064_10425511 | 10409649 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG02630.hp2 NA18612.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0004t0001 | a0001c0002t0001g0022 a0001c0002t0001g0088 a0001c0002t0001g0091 others(3): Show |
8 | 171 | 0.0468 | 7 | c.519 others(24): Show |
PGD | ENSG00000142657.21 | transcript | ENST00000270776.13 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63613259 | C | CTTTTTTT | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02055.hp2 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(5): Show | a0001c0001t0001g0053 a0001c0001t0001g0160 a0001c0001t0003g0082 others(8): Show |
11 | 32 | 0.3438 | 7 | c.247 others(26): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74389947 | C | CAAAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02257.hp2 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0041a0001c0004t0008others(4): Show | a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0041g0188 others(6): Show |
9 | 72 | 0.1250 | 7 | c.111 others(24): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM2_chr4_37821686_37867937 | 37831192 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(56): Show |
a0001a0009 | a0001c0001a0001c0005a0009c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(46): Show |
59 | 249 | 0.2369 | 7 | c.249 others(24): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98966729 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG02602.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0010a0003c0003t0002others(1): Show | a0001c0001t0001g0198 a0001c0001t0010g0246 a0003c0003t0002g0251 others(5): Show |
8 | 327 | 0.0245 | 7 | c.*17 others(18): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 1499 | chr15 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98987165 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00642.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0047 a0001c0001t0002g0008 a0001c0001t0002g0269 others(28): Show |
32 | 155 | 0.2065 | 7 | c.-14 others(28): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG01169.hp2 HG01515.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0042a0001c0001t0231others(3): Show | a0001c0001t0013g0184 a0001c0001t0042g0026 a0001c0001t0231g0187 others(3): Show |
6 | 97 | 0.0619 | 7 | c.-19 others(18): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18347270 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00621.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(29): Show | a0001c0001t0001g0007 a0001c0001t0001g0081 a0001c0001t0003g0107 others(30): Show |
33 | 132 | 0.2500 | 7 | c.87+ others(22): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78421898 | A | AGCGGGCG | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01952.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0223 a0001c0001t0001g0286 a0001c0002t0007g0017 others(1): Show |
4 | 347 | 0.0115 | 7 | c.*11 others(24): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12867819 | A | AGAGGAAT | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01109.hp1 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(89): Show |
92 | 108 | 0.8519 | 7 | c.250 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12944778 | T | TTTATTTA | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0002t0001g0013 |
3 | 108 | 0.0278 | 7 | c.251 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13072479 | A | ACTTGCTT | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01168.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0058 others(26): Show |
29 | 108 | 0.2685 | 7 | c.415 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13086083 | T | TAAAAAAA | intron_variant | MODIFIER | HG02486.hp2 HG03130.hp1 HG03209.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0062 others(4): Show |
7 | 47 | 0.1489 | 7 | c.415 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13190196 | G | GTTTTTTT | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0094 others(2): Show |
5 | 103 | 0.0485 | 7 | c.664 others(24): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13242035 | C | CAAAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0002g0007 others(3): Show |
6 | 91 | 0.0659 | 7 | c.139 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13291985 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG01993.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0101 a0001c0001t0003g0023 a0001c0001t0003g0076 others(5): Show |
8 | 15 | 0.5333 | 7 | c.*49 others(18): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4149 | chr6 | TogoVar |