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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGLYRP2_chr19_15463645_15484501 | 15467838 | T | TTTTCCTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02895.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0002others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0114 a0002c0002t0001g0002 others(5): Show |
9 | 132 | 0.0682 | 9 | c.*82 others(18): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 806 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15470237 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01358.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0003g0049 a0002c0002t0001g0179 a0002c0002t0001g0231 others(10): Show |
13 | 345 | 0.0377 | 9 | c.134 others(26): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PGLYRP3_chr1_153292116_153317952 | 153300776 | A | AACGATGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(282): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0009others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(83): Show | a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0109 others(147): Show |
285 | 432 | 0.6597 | 9 | c.729 others(26): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153350648 | A | AGAAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 HG03516.hp2 NA18985.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0106 others(2): Show |
8 | 161 | 0.0497 | 9 | c.-21 others(20): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1808 | chr1 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63664256 | T | TGTGATTC others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01192.hp1 others(66): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0167 others(66): Show |
69 | 364 | 0.1896 | 9 | c.*45 others(20): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4012 | chr1 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74326545 | C | CGTAGGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(255): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0002 a0001c0001t0001g0097 a0001c0001t0001g0098 others(243): Show |
258 | 378 | 0.6825 | 9 | c.*10 others(22): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 3770 | chr11 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74402599 | T | TAATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0043others(28): Show | a0001c0001t0002g0107 a0001c0001t0002g0126 a0001c0001t0002g0152 others(110): Show |
122 | 345 | 0.3536 | 9 | c.-44 others(20): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 4167 | chr11 | TogoVar | |||||||
PGM2_chr4_37821686_37867937 | 37831192 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show |
7 | 197 | 0.0355 | 9 | c.249 others(26): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37841188 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02055.hp1 HG02258.hp2 others(2): Show |
a0001a0006 | a0001c0002a0001c0004a0006c0016 | a0001c0002t0002a0001c0004t0001a0006c0016t0002 | a0001c0002t0002g0078 a0001c0002t0002g0101 a0001c0002t0002g0250 others(2): Show |
5 | 362 | 0.0138 | 9 | c.719 others(24): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
PGM3_chr6_83159873_83198265 | 83193331 | T | TCCGCCAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(87): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0002a0002c0002t0007others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0120 others(23): Show |
90 | 342 | 0.2632 | 9 | c.-16 others(18): Show |
PGM3 | ENSG00000013375.17 | transcript | ENST00000513973.6 | protein_coding | 67 | chr6 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68376835 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01109.hp2 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0008a0001c0002t0013others(2): Show | a0001c0002t0002g0016 a0001c0002t0002g0026 a0001c0002t0002g0038 others(5): Show |
8 | 183 | 0.0437 | 9 | c.262 others(26): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98987165 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01361.hp2 HG02074.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0002g0271 a0001c0001t0002g0293 a0001c0001t0006g0256 others(6): Show |
9 | 132 | 0.0682 | 9 | c.-14 others(30): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(29): Show | a0001c0001t0003g0012 a0001c0001t0003g0107 a0001c0001t0004g0262 others(30): Show |
33 | 124 | 0.2661 | 9 | c.-19 others(20): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18352266 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0051others(39): Show | a0001c0001t0003g0012 a0001c0001t0003g0345 a0001c0001t0006g0001 others(44): Show |
49 | 123 | 0.3984 | 9 | c.88- others(24): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18364083 | G | GCTTTTCT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG02257.hp1 HG02273.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0217a0001c0001t0218a0001c0001t0219others(4): Show | a0001c0001t0217g0353 a0001c0001t0218g0222 a0001c0001t0219g0203 others(4): Show |
7 | 178 | 0.0393 | 9 | c.*50 others(18): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 505 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12891771 | T | TTGTACTA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01175.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 others(22): Show |
25 | 108 | 0.2315 | 9 | c.250 others(30): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12897698 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01192.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0097 others(12): Show |
15 | 16 | 0.9375 | 9 | c.250 others(30): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12955192 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03130.hp1 HG03453.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0049 a0001c0001t0001g0050 others(6): Show |
9 | 46 | 0.1957 | 9 | 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 | 13190198 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0021 others(10): Show |
13 | 32 | 0.4063 | 9 | c.664 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13195779 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02258.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0061 others(2): Show |
5 | 71 | 0.0704 | 9 | c.665 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13231086 | A | AGGAAGGA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01433.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0059 a0001c0001t0003g0041 a0001c0001t0003g0103 |
3 | 85 | 0.0353 | 9 | c.139 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143802647 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01256.hp1 others(41): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0184 others(41): Show |
44 | 147 | 0.2993 | 9 | c.184 others(28): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635148 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01255.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0016a0001c0003t0007 | a0001c0001t0004g0148 a0001c0001t0016g0068 a0001c0003t0007g0116 |
3 | 247 | 0.0121 | 9 | c.118 others(28): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
PHACTR4_chr1_28364740_28505364 | 28366502 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01884.hp2 others(15): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0001c0003t0006a0001c0003t0015others(3): Show | a0001c0003t0004g0222 a0001c0003t0004g0223 a0001c0003t0004g0224 others(15): Show |
18 | 215 | 0.0837 | 9 | c.-33 others(20): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 3237 | chr1 | TogoVar | |||||||
PHACTR4_chr1_28364740_28505364 | 28370611 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01257.hp2 others(5): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0006others(1): Show | a0001c0003t0004a0001c0003t0009a0001c0003t0014others(3): Show | a0001c0003t0004g0119 a0001c0003t0009g0121 a0001c0003t0014g0122 others(5): Show |
8 | 119 | 0.0672 | 9 | c.-39 others(24): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28378198 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG02559.hp2 others(11): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0011 | a0001c0003t0004a0001c0003t0006a0001c0003t0015others(3): Show | a0001c0003t0004g0224 a0001c0003t0004g0225 a0001c0003t0004g0226 others(11): Show |
14 | 121 | 0.1157 | 9 | c.-39 others(26): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHAX_chr5_126595947_126632252 | 126609095 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02615.hp1 HG02683.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0015a0001c0001t0024others(4): Show | a0001c0001t0010g0041 a0001c0001t0010g0043 a0001c0001t0010g0044 others(8): Show |
11 | 175 | 0.0629 | 9 | c.831 others(24): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22055174 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01256.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(12): Show |
15 | 16 | 0.9375 | 9 | c.349 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22098795 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0023a0001c0001t0025a0001c0001t0034others(2): Show | a0001c0001t0023g0148 a0001c0001t0025g0039 a0001c0001t0034g0169 others(2): Show |
5 | 77 | 0.0649 | 9 | c.934 others(24): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22106814 | T | TTCATCAC others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0068a0001c0001t0074others(1): Show | a0001c0001t0022g0019 a0001c0001t0068g0005 a0001c0001t0074g0032 others(1): Show |
4 | 229 | 0.0175 | 9 | c.108 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22209709 | T | TTCCCTCT others(2): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0057a0001c0001t0058 | a0001c0001t0057g0044 a0001c0001t0058g0066 |
2 | 228 | 0.0088 | 9 | c.164 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHF12_chr17_28900250_28956518 | 28914671 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02293.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0052 others(2): Show |
6 | 60 | 0.1000 | 9 | c.113 others(26): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 7/14 | chr17 | TogoVar | |||||||
PHF20_chr20_35767015_35955370 | 35805354 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG03017.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003a0002c0002t0008 | a0001c0001t0004g0125 a0002c0002t0003g0115 a0002c0002t0003g0118 others(2): Show |
5 | 88 | 0.0568 | 9 | c.83+ others(24): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35850296 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01433.hp1 HG02004.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0116 a0002c0002t0003g0128 a0002c0002t0003g0129 others(9): Show |
12 | 90 | 0.1333 | 9 | c.340 others(26): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35850300 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0019 | a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0102 others(11): Show |
14 | 204 | 0.0686 | 9 | c.340 others(26): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35881070 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02723.hp1 HG02976.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 others(7): Show |
10 | 199 | 0.0503 | 9 | c.128 others(28): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 9/17 | chr20 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45958396 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02132.hp2 HG02293.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(6): Show | a0001c0001t0002g0074 a0001c0001t0003g0237 a0001c0001t0014g0113 others(6): Show |
9 | 222 | 0.0405 | 9 | c.997 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45958419 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(2): Show | a0001c0001t0001g0183 a0001c0001t0001g0201 a0001c0001t0006g0185 others(5): Show |
8 | 107 | 0.0748 | 9 | c.997 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45964198 | C | CATAATAA others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 others(1): Show |
4 | 275 | 0.0145 | 9 | c.996 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45964200 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00735.hp1 others(73): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0207 a0001c0001t0001g0245 a0001c0001t0002g0057 others(73): Show |
76 | 79 | 0.9620 | 9 | c.996 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45971890 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02080.hp1 HG02559.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 others(18): Show |
21 | 26 | 0.8077 | 9 | c.361 others(24): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 45974418 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02486.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0022 | a0001c0001t0005g0259 a0001c0001t0012g0260 a0001c0001t0012g0261 others(3): Show |
6 | 7 | 0.8571 | 9 | c.361 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44896880 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(88): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 others(88): Show |
91 | 184 | 0.4946 | 9 | c.832 others(24): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 5/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44902529 | T | TCTTCTGC others(2): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03540.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0094 a0001c0002t0002g0232 a0001c0002t0002g0234 |
3 | 298 | 0.0101 | 9 | c.832 others(26): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 5/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44912878 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01123.hp2 others(12): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0139 others(12): Show |
15 | 48 | 0.3125 | 9 | c.831 others(24): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 5/12 | chr22 | TogoVar | |||||||
PHF23_chr17_7230038_7244457 | 7233087 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG01978.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0007 a0001c0001t0002g0011 others(2): Show |
20 | 185 | 0.1081 | 9 | c.*25 others(20): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 1950 | chr17 | TogoVar | |||||||
PHF2_chr9_93571584_93684587 | 93627492 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(101): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(9): Show | a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 others(95): Show |
104 | 130 | 0.8000 | 9 | c.99- others(24): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PHF8_chrX_53931680_54049473 | 53932151 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01081.hp1 HG01081.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 others(2): Show |
5 | 47 | 0.1064 | 9 | c.*70 others(20): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 4528 | chrX | TogoVar | |||||||
PHF8_chrX_53931680_54049473 | 54045942 | T | TACCCAGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp1 others(115): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(115): Show |
118 | 184 | 0.6413 | 9 | c.-22 others(20): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 1470 | chrX | TogoVar | |||||||
PHGDH_chr1_119706934_119749215 | 119717232 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG02027.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024 a0001c0001t0001g0173 a0001c0001t0001g0174 others(4): Show |
8 | 54 | 0.1481 | 9 | c.139 others(26): Show |
PHGDH | ENSG00000092621.13 | transcript | ENST00000641023.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |