| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0030 | a0030c0049 | a0030c0049t0008 | a0030c0049t0008g0160 | 1 | 216 | 0.0046 | 37 | c.-36 others(58): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PELP1_chr17_4664774_4709137 | 4668101 | A | ATTTATAA others(30): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01943.hp1 HG02027.hp1 others(26): Show |
a0001a0011a0012 | a0001c0001a0001c0032a0011c0024others(1): Show | a0001c0001t0002a0001c0032t0002a0011c0024t0002others(1): Show | a0001c0001t0002g0165a0001c0001t0002g0188a0001c0001t0002g0251others(26): Show | 29 | 316 | 0.0918 | 37 | c.*33 others(48): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 1672 | chr17 | TogoVar | ||||||
| PEPD_chr19_33381950_33526791 | 33509898 | C | CAGCCCGA others(30): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 314 | 0.0032 | 37 | c.329 others(54): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 3/14 | chr19 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(30): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 408 | 0.0025 | 37 | c.-26 others(48): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(30): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 408 | 0.0025 | 37 | c.-26 others(48): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401396 | C | CCCTCATT others(30): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0064 | 1 | 358 | 0.0028 | 37 | c.*43 others(48): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2577 | chr1 | TogoVar | ||||||
| PEX11B_chr1_145906350_145923717 | 145909445 | C | CTATATAA others(30): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 368 | 0.0027 | 37 | c.*27 others(48): Show |
PEX11B | ENSG00000131779.11 | transcript | ENST00000369306.8 | protein_coding | 1904 | chr1 | TogoVar | ||||||
| PFDN5_chr12_53290542_53304450 | 53303257 | C | CTCACACA others(30): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 37 | c.*39 others(48): Show |
PFDN5 | ENSG00000123349.15 | transcript | ENST00000334478.9 | protein_coding | 3808 | chr12 | TogoVar | ||||||
| PGAP4_chr9_101468170_101492173 | 101485995 | T | TGGTCCGC others(30): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0144 | 1 | 460 | 0.0022 | 37 | c.-78 others(52): Show |
PGAP4 | ENSG00000165152.9 | transcript | ENST00000374848.8 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 378364 | A | ACCCACAC others(30): Show |
intron_variant | MODIFIER | HG01978.hp2 NA18979.hp2 |
a0002a0012 | a0002c0002a0012c0017 | a0002c0002t0001a0012c0017t0001 | a0002c0002t0001g0133a0012c0017t0001g0137 | 2 | 376 | 0.0053 | 37 | c.122 others(52): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| PGGHG_chr11_284126_301107 | 294512 | A | ACCCCAGG others(30): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0053 | 1 | 450 | 0.0022 | 37 | c.202 others(52): Show |
PGGHG | ENSG00000142102.16 | transcript | ENST00000409548.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PGGHG_chr11_284126_301107 | 294512 | A | ACCCCAGG others(30): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(184): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(32): Show | a0001c0001t0001g0017a0001c0001t0004g0017a0001c0002t0002g0002others(43): Show | 187 | 450 | 0.4156 | 37 | c.202 others(52): Show |
PGGHG | ENSG00000142102.16 | transcript | ENST00000409548.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PGGHG_chr11_284126_301107 | 294512 | A | ACCCCAGG others(30): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0011 | a0011c0022 | a0011c0022t0004 | a0011c0022t0004g0037 | 1 | 450 | 0.0022 | 37 | c.202 others(52): Show |
PGGHG | ENSG00000142102.16 | transcript | ENST00000409548.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PGLYRP1_chr19_46014153_46028053 | 46027644 | T | TTTACTTA others(30): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 456 | 0.0022 | 37 | c.-46 others(48): Show |
PGLYRP1 | ENSG00000008438.5 | transcript | ENST00000008938.5 | protein_coding | 4592 | chr19 | TogoVar | ||||||
| PHACTR1_chr6_12711767_13292837 | 12830129 | G | GAAAGAAA others(30): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 108 | 0.0093 | 37 | c.250 others(56): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PHACTR1_chr6_12711767_13292837 | 12921617 | A | AAAGGGAG others(30): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0038others(3): Show | 6 | 108 | 0.0556 | 37 | c.251 others(58): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(30): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 250 | 0.0040 | 37 | c.118 others(56): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(30): Show |
intron_variant | MODIFIER | NA18948.hp1 NA19012.hp2 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0002g0224others(1): Show | 4 | 250 | 0.0160 | 37 | c.118 others(56): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(30): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 250 | 0.0040 | 37 | c.118 others(56): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF3_chr6_63630802_63731011 | 63727737 | A | ATATATAT others(30): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0285 | 1 | 320 | 0.0031 | 37 | c.*14 others(50): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 1727 | chr6 | TogoVar | ||||||
| PHLDB2_chr3_111854265_111981517 | 111866014 | A | ATTTTTTT others(30): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 286 | 0.0035 | 37 | c.-15 others(54): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PHLDB3_chr19_43470103_43509746 | 43495140 | G | GGTCTGAG others(30): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0012a0001c0001t0001g0186a0001c0001t0001g0196others(304): Show | 316 | 396 | 0.7980 | 37 | c.103 others(54): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
| PHLDB3_chr19_43470103_43509746 | 43495140 | G | GGTTTGAG others(30): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18978.hp1 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307a0001c0001t0001g0323a0001c0001t0001g0368others(1): Show | 4 | 396 | 0.0101 | 37 | c.103 others(54): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
| PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAAAT others(30): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 192 | 0.0052 | 37 | c.157 others(58): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAATATAT others(30): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0035a0001c0016t0001g0143 | 2 | 192 | 0.0104 | 37 | c.157 others(58): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PHLPP1_chr18_62710541_62985433 | 62766076 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 192 | 0.0052 | 37 | c.157 others(58): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | chr18 | TogoVar | ||||||
| PHLPP1_chr18_62710541_62985433 | 62839753 | A | AATATATA others(30): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03516.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0163a0002c0006t0001g0164 | 2 | 192 | 0.0104 | 37 | c.189 others(54): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PHLPP1_chr18_62710541_62985433 | 62849822 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0031 | 1 | 192 | 0.0052 | 37 | c.190 others(58): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
| PHLPP1_chr18_62710541_62985433 | 62849826 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG01884.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0042 | 2 | 192 | 0.0104 | 37 | c.190 others(58): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
| PHLPP1_chr18_62710541_62985433 | 62849832 | A | ATATATAT others(30): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18906.hp2 |
a0001a0010 | a0001c0005a0010c0012 | a0001c0005t0001a0010c0012t0013 | a0001c0005t0001g0187a0010c0012t0013g0074 | 2 | 192 | 0.0104 | 37 | c.190 others(58): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
| PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(30): Show |
3_prime_UTR_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0203 | a0001c0001t0203g0078 | 1 | 322 | 0.0031 | 37 | c.*50 others(48): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
| PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(30): Show |
3_prime_UTR_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0278 | 1 | 322 | 0.0031 | 37 | c.*50 others(48): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
| PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(30): Show |
3_prime_UTR_variant | MODIFIER | NA18984.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0115 | a0001c0001t0064g0093a0001c0001t0115g0289 | 2 | 322 | 0.0062 | 37 | c.*50 others(48): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
| PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(30): Show |
3_prime_UTR_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0107 | a0001c0001t0107g0220 | 1 | 322 | 0.0031 | 37 | c.*50 others(48): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
| PIBF1_chr13_72777133_73021461 | 72844748 | C | CACACACA others(30): Show |
intron_variant | MODIFIER | NA18961.hp2 NA18968.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0079a0002c0002t0003g0085 | 2 | 346 | 0.0058 | 37 | c.122 others(56): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PIBF1_chr13_72777133_73021461 | 72844750 | C | CACACACA others(30): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG03654.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0146a0001c0001t0003g0135a0002c0002t0003g0054others(2): Show | 5 | 346 | 0.0145 | 37 | c.122 others(56): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PIBF1_chr13_72777133_73021461 | 72844752 | C | CACACACA others(30): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03453.hp2 |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0049a0002c0005t0002g0070 | 2 | 346 | 0.0058 | 37 | c.122 others(56): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PIBF1_chr13_72777133_73021461 | 72904433 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18967.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0280a0001c0001t0002g0111a0001c0001t0002g0120 | 3 | 346 | 0.0087 | 37 | c.148 others(56): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PID1_chr2_229018973_229276287 | 229184263 | T | TATATATA others(30): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0253 | 1 | 256 | 0.0039 | 37 | c.31- others(54): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
| PID1_chr2_229018973_229276287 | 229184983 | C | CTATATAT others(30): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 256 | 0.0039 | 37 | c.31- others(54): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
| PIGC_chr1_172436457_172449069 | 172447601 | A | AAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 388 | 0.0026 | 37 | c.-38 others(48): Show |
PIGC | ENSG00000135845.10 | transcript | ENST00000344529.5 | protein_coding | 3533 | chr1 | TogoVar | ||||||
| PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(30): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 384 | 0.0026 | 37 | c.*18 others(46): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
| PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(30): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0057 | 3 | 384 | 0.0078 | 37 | c.*18 others(46): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
| PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(30): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | 37 | c.*18 others(46): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
| PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAT others(30): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | 37 | c.*18 others(46): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | ||||||
| PIK3IP1_chr22_31276600_31297488 | 31287901 | T | TTATGAGT others(30): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0140 | 1 | 422 | 0.0024 | 37 | c.587 others(54): Show |
PIK3IP1 | ENSG00000100100.13 | transcript | ENST00000215912.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
| PIM3_chr22_49955772_49969072 | 49963996 | C | CTTTCAGT others(30): Show |
3_prime_UTR_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0002 | 1 | 426 | 0.0024 | 37 | c.*87 others(46): Show |
PIM3 | ENSG00000198355.5 | transcript | ENST00000360612.5 | protein_coding | 6/6 | 910 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
| PINX1_chr8_10759961_10844875 | 10767764 | A | ACACAGAG others(30): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02717.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0001a0001c0006t0001a0002c0005t0001 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(7): Show | 10 | 352 | 0.0284 | 37 | c.472 others(54): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 6/6 | chr8 | TogoVar | ||||||
| PINX1_chr8_10759961_10844875 | 10767836 | A | ACAGCCAC others(30): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(5): Show | 8 | 352 | 0.0227 | 37 | c.472 others(54): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 6/6 | chr8 | TogoVar | ||||||
| PINX1_chr8_10759961_10844875 | 10767934 | G | GGTGACCA others(30): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0136 | 1 | 352 | 0.0028 | 37 | c.472 others(54): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 6/6 | chr8 | TogoVar |