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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAM_chr5_102750305_103034716 | 102803165 | GGAAGGAA others(37): Show |
G | intron_variant | MODIFIER | NA19004.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0087 a0001c0001t0009g0116 |
2 | 186 | 0.0108 | -44 | c.-37 others(65): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102871002 | CTTTGGTG others(37): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 186 | 0.0054 | -44 | c.210 others(61): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300841 | TTTTCTTT others(37): Show |
T | intron_variant | MODIFIER | HG02523.hp2 HG04184.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0016 | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0008g0070 others(1): Show |
4 | 209 | 0.0191 | -44 | c.-27 others(63): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300937 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0002c0002t0002 | a0001c0001t0021g0241 a0002c0002t0002g0240 |
2 | 171 | 0.0117 | -44 | c.-27 others(63): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69355300 | CTTTCTTT others(37): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0002g0124 others(3): Show |
6 | 282 | 0.0213 | -44 | c.-11 others(63): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69382777 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0013 a0001c0001t0001g0212 a0001c0001t0001g0263 others(3): Show |
6 | 33 | 0.1818 | -44 | c.180 others(61): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARL_chr3_183824271_183889880 | 183882218 | AAAAAATA others(37): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 356 | 0.0028 | -44 | c.125 others(61): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882220 | AAAATATA others(37): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02071.hp2 HG02723.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0103 others(4): Show |
7 | 355 | 0.0197 | -44 | c.125 others(61): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARL_chr3_183824271_183889880 | 183882225 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(59): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0008 others(53): Show |
62 | 330 | 0.1879 | -44 | c.125 others(61): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARP9_chr3_122522924_122569300 | 122539507 | ATTTCTTT others(37): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0326 | 1 | 71 | 0.0141 | -44 | c.176 others(61): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151653868 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0002 a0001c0002t0002g0169 a0001c0002t0002g0176 others(5): Show |
8 | 90 | 0.0889 | -44 | c.717 others(61): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61796658 | TTTTCTTT others(37): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01257.hp1 HG02602.hp2 |
a0005a0006a0016 | a0005c0122a0006c0069a0016c0121 | a0005c0122t0003a0006c0069t0001a0016c0121t0003 | a0005c0122t0003g0129 a0006c0069t0001g0034 a0016c0121t0003g0136 |
3 | 120 | 0.0250 | -44 | c.126 others(61): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61925199 | CAAAAAAA others(37): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 |
a0011a0031 | a0011c0007a0031c0131 | a0011c0007t0003a0031c0131t0001 | a0011c0007t0003g0089 a0031c0131t0001g0043 |
2 | 153 | 0.0131 | -44 | c.357 others(63): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 26/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59672322 | ATATATAT others(37): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 274 | 0.0036 | -44 | c.-34 others(55): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3286 | chr11 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79632288 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02451.hp2 others(2): Show |
a0002a0003a0004 | a0002c0002a0003c0004a0004c0006 | a0002c0002t0005a0003c0004t0022a0004c0006t0011 | a0002c0002t0005g0181 a0003c0004t0022g0165 a0004c0006t0011g0238 others(2): Show |
5 | 240 | 0.0208 | -44 | c.517 others(63): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX8_chr2_113210997_113283921 | 113236362 | CGGAGGCG others(37): Show |
C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 a0001c0001t0004g0245 |
2 | 298 | 0.0067 | -44 | c.898 others(59): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771859 | TGAGAGAG others(37): Show |
T | upstream_gene_variant | MODIFIER | HG01975.hp1 NA18986.hp1 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
3 | 339 | 0.0088 | -44 | c.-23 others(53): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 105 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771905 | AGAGAGAG others(37): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03239.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(1): Show |
5 | 357 | 0.0140 | -44 | c.-28 others(53): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 151 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45746628 | TGGTGTCA others(37): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0112 | 1 | 290 | 0.0034 | -44 | c.-16 others(63): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45859286 | GGTCAGCC others(37): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(263): Show |
267 | 290 | 0.9207 | -44 | c.10+ others(59): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45898863 | GCCCCTCT others(37): Show |
G | intron_variant | MODIFIER | NA18959.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 a0001c0001t0002g0241 |
2 | 290 | 0.0069 | -44 | c.166 others(59): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100298640 | CTCCCTCC others(37): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 172 | 0.0058 | -44 | c.106 others(63): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100298660 | CTCCCTCC others(37): Show |
C | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | 83 | 0.0241 | -44 | c.106 others(63): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100333158 | GAAGGAAG others(37): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 277 | 0.0036 | -44 | c.284 others(63): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 67115691 | GTTTTACC others(37): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 1 | 80 | 0.0125 | -44 | c.303 others(67): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 733059 | GCGTGCTG others(37): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG03471.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0017a0001c0001t0023a0001c0005t0017others(2): Show | a0001c0001t0017g0293 a0001c0001t0023g0284 a0001c0001t0023g0288 others(3): Show |
6 | 122 | 0.0492 | -44 | c.-9- others(57): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999601 | TATTATAT others(37): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG04199.hp1 |
a0006 | a0006c0027 | a0006c0027t0001 | a0006c0027t0001g0046 a0006c0027t0001g0048 |
2 | 186 | 0.0108 | -44 | c.330 others(65): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCSK1_chr5_96385333_96438248 | 96425008 | AAAAGAAA others(37): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0013 | a0001c0002t0010g0293 a0001c0002t0010g0294 a0001c0002t0010g0295 others(2): Show |
5 | 77 | 0.0649 | -44 | c.396 others(59): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177631496 | AAAAAAAA others(37): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0050 | 1 | 164 | 0.0061 | -44 | c.264 others(63): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177660061 | TTCTTTCT others(37): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0026a0001c0005t0026 | a0001c0001t0026g0067 a0001c0005t0026g0019 |
2 | 162 | 0.0123 | -44 | c.264 others(63): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511284 | GCTGGGGG others(37): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(23): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0074 others(44): Show |
49 | 300 | 0.1633 | -44 | c.266 others(59): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511307 | TTAGTCCA others(37): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01099.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(16): Show | a0001c0001t0004g0279 a0001c0001t0005g0072 a0001c0001t0015g0017 others(19): Show |
22 | 281 | 0.0783 | -44 | c.266 others(59): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 512266 | CACCCGGC others(37): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0204 | 1 | 299 | 0.0033 | -44 | c.265 others(57): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247873 | AAAAAAAA others(37): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003 a0001c0001t0004g0093 |
2 | 379 | 0.0053 | -44 | c.-39 others(55): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2892 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247875 | AAAAAAAA others(37): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01516.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0003t0004g0094 |
3 | 346 | 0.0087 | -44 | c.-39 others(55): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2894 | chr22 | TogoVar | |||||||
PDHX_chr11_34911618_35001128 | 34964773 | ATATTAGC others(37): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0014 | a0001c0002t0007g0187 a0001c0002t0007g0188 a0001c0002t0007g0189 others(3): Show |
6 | 127 | 0.0472 | -44 | c.642 others(61): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177498672 | TGGAGGCC others(37): Show |
T | upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 438 | 0.0023 | -44 | c.-12 others(55): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 1069 | chr5 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107221076 | CTCACGCC others(37): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0260 | 1 | 258 | 0.0039 | -44 | c.703 others(61): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43744155 | CACCCAGG others(37): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0053 | 1 | 356 | 0.0028 | -44 | c.331 others(59): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402558 | TACTGAGT others(37): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0115 | 1 | 186 | 0.0054 | -44 | c.844 others(65): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216074497 | GAAGGAAG others(37): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029 | 1 | 396 | 0.0025 | -44 | c.124 others(61): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2416295 | CAGTTCTG others(37): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 356 | 0.0028 | -44 | c.-38 others(55): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 3732 | chr1 | TogoVar | |||||||
PEX11B_chr1_145906350_145923717 | 145909491 | AATATATA others(37): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 259 | 0.0077 | -44 | c.*26 others(55): Show |
PEX11B | ENSG00000131779.11 | transcript | ENST00000369306.8 | protein_coding | 1858 | chr1 | TogoVar | |||||||
PGAM5_chr12_132705842_132727734 | 132717313 | GGTGTTTG others(37): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01167.hp1 others(22): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0021others(2): Show | a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0085 others(11): Show |
25 | 283 | 0.0883 | -44 | c.371 others(57): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064574 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 108 | 0.0093 | -44 | c.415 others(63): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143771146 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0068 | 1 | 303 | 0.0033 | -44 | c.123 others(63): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143771150 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG02165.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0019 | a0001c0001t0018a0001c0003t0001a0001c0003t0010others(4): Show | a0001c0001t0018g0157 a0001c0003t0001g0140 a0001c0003t0001g0154 others(6): Show |
9 | 306 | 0.0294 | -44 | c.123 others(63): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(37): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02895.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0136 a0001c0001t0001g0156 a0001c0001t0001g0298 others(2): Show |
5 | 148 | 0.0338 | -44 | c.*51 others(55): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720401 | GTGTATGT others(37): Show |
G | intron_variant | MODIFIER | HG03130.hp1 NA19043.hp2 |
a0002a0004 | a0002c0076a0004c0075 | a0002c0076t0002a0004c0075t0002 | a0002c0076t0002g0112 a0004c0075t0002g0073 |
2 | 145 | 0.0138 | -44 | c.503 others(63): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10880846 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01943.hp1 HG01975.hp2 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0006a0001c0028a0002c0038others(4): Show | a0001c0006t0001a0001c0028t0001a0002c0038t0001others(4): Show | a0001c0006t0001g0139 a0001c0028t0001g0034 a0002c0038t0001g0024 others(4): Show |
7 | 27 | 0.2593 | -44 | c.330 others(61): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar |