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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PFKP_chr10_3062548_3141802 | 3081977 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00639.hp1 others(94): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0002g0111 a0001c0001t0002g0201 a0001c0001t0002g0205 others(94): Show |
97 | 101 | 0.9604 | -9 | c.113 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3110365 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(56): Show |
a0001a0010 | a0001c0005a0001c0007a0001c0010others(9): Show | a0001c0005t0002a0001c0005t0003a0001c0005t0004others(20): Show | a0001c0005t0002g0005 a0001c0005t0002g0179 a0001c0005t0002g0280 others(56): Show |
59 | 121 | 0.4876 | -9 | c.108 others(26): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3133867 | CTTATTCA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG03225.hp2 others(1): Show |
a0001a0009 | a0001c0023a0001c0040a0009c0048 | a0001c0023t0013a0001c0023t0017a0001c0040t0013others(1): Show | a0001c0023t0013g0385 a0001c0023t0017g0255 a0001c0040t0013g0012 others(1): Show |
4 | 400 | 0.0100 | -9 | c.202 others(26): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3134419 | TTTCTATT others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG00741.hp2 others(37): Show |
a0001a0005a0010 | a0001c0007a0001c0008a0001c0010others(9): Show | a0001c0007t0005a0001c0007t0019a0001c0008t0005others(10): Show | a0001c0007t0005g0011 a0001c0007t0005g0032 a0001c0007t0005g0094 others(37): Show |
40 | 400 | 0.1000 | -9 | c.202 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 19/21 | chr10 | TogoVar | |||||||
PGA4_chr11_61217347_61236694 | 61220375 | AAAGTGGA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02148.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 304 | 0.0099 | -9 | c.-20 others(20): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 1971 | chr11 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39684124 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(157): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(67): Show |
160 | 244 | 0.6557 | -9 | c.432 others(24): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
PGBD1_chr6_28276572_28307549 | 28297816 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01069.hp2 others(3): Show |
a0004a0006 | a0004c0004a0006c0007 | a0004c0004t0002a0006c0007t0001 | a0004c0004t0002g0089 a0006c0007t0001g0017 a0006c0007t0001g0057 |
6 | 130 | 0.0462 | -9 | c.773 others(22): Show |
PGBD1 | ENSG00000137338.6 | transcript | ENST00000682144.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230348788 | AGGGACTG others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG00741.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(16): Show | a0001c0001t0002g0112 a0001c0001t0002g0165 a0001c0001t0004g0090 others(33): Show |
36 | 286 | 0.1259 | -9 | c.894 others(26): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
PGGT1B_chr5_115199012_115267877 | 115226547 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG01496.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0026a0001c0001t0027others(17): Show | a0001c0001t0025g0193 a0001c0001t0025g0194 a0001c0001t0025g0195 others(32): Show |
35 | 370 | 0.0946 | -9 | c.658 others(26): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 6/8 | chr5 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(42): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0096 a0002c0002t0001g0002 others(33): Show |
45 | 54 | 0.8333 | -9 | c.113 others(28): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15477698 | AAAATAAA others(2): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 HG03195.hp2 others(2): Show |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0316 a0007c0009t0001g0317 a0007c0009t0001g0318 others(2): Show |
5 | 380 | 0.0132 | -9 | c.62- others(24): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153348892 | CCAGGTAG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(323): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(101): Show |
326 | 390 | 0.8359 | -9 | c.-42 others(18): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 52 | chr1 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153350647 | AAAAAGAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00741.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0002 a0001c0001t0002g0029 a0001c0001t0002g0031 others(6): Show |
23 | 375 | 0.0613 | -9 | c.-21 others(20): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1807 | chr1 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74346270 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01243.hp2 others(12): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0010a0001c0004t0017a0001c0004t0029others(2): Show | a0001c0004t0010g0010 a0001c0004t0010g0171 a0001c0004t0010g0172 others(11): Show |
15 | 85 | 0.1765 | -9 | c.103 others(26): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 8/13 | chr11 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98982699 | GCTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0063 a0001c0001t0001g0191 a0001c0001t0003g0230 |
3 | 372 | 0.0081 | -9 | c.-14 others(30): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02015.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0018others(5): Show | a0001c0001t0010g0223 a0001c0002t0001g0124 a0001c0002t0001g0128 others(10): Show |
13 | 28 | 0.4643 | -9 | c.248 others(28): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78386972 | ATGATGAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 others(29): Show |
32 | 390 | 0.0821 | -9 | c.144 others(26): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78388986 | TAAGTTGA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0333 a0001c0001t0001g0334 others(57): Show |
61 | 396 | 0.1540 | -9 | c.144 others(26): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78410462 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01106.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 others(20): Show |
23 | 34 | 0.6765 | -9 | c.140 others(28): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12754128 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0002g0006 others(4): Show |
7 | 35 | 0.2000 | -9 | c.250 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12777625 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp2 HG03516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0004 a0001c0001t0001g0049 a0001c0001t0001g0050 others(3): Show |
6 | 23 | 0.2609 | -9 | 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 | 12792464 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01361.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(13): Show |
16 | 31 | 0.5161 | -9 | 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 | 12897698 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01167.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 others(45): Show |
48 | 49 | 0.9796 | -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 | 13134795 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01255.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0046 others(28): Show |
31 | 39 | 0.7949 | -9 | c.416 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13158184 | TTAGCAGA others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0002g0033 others(3): Show |
6 | 108 | 0.0556 | -9 | c.416 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13177172 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01192.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0002g0074 others(9): Show |
12 | 34 | 0.3529 | -9 | c.497 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143736554 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(46): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0054 others(46): Show |
49 | 91 | 0.5385 | -9 | c.215 others(28): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59785892 | CAACGGCC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 others(126): Show |
129 | 248 | 0.5202 | -9 | c.117 others(30): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 7/12 | chr20 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59843944 | CCAGAATA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 NA18939.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0239 a0001c0001t0002g0071 a0001c0001t0002g0157 |
3 | 248 | 0.0121 | -9 | c.158 others(28): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28503465 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01123.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0038a0001c0003t0006a0001c0003t0009others(5): Show | a0001c0001t0038g0115 a0001c0003t0006g0127 a0001c0003t0006g0130 others(20): Show |
23 | 120 | 0.1917 | -9 | c.*69 others(20): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 3102 | chr1 | TogoVar | |||||||
PHAF1_chr16_67104941_67153544 | 67118766 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(3): Show |
6 | 142 | 0.0423 | -9 | c.65- others(24): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170138539 | AATTAGCC others(2): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp1 HG03471.hp1 |
a0003a0007 | a0003c0005a0007c0007 | a0003c0005t0025a0003c0005t0026a0007c0007t0027 | a0003c0005t0025g0323 a0003c0005t0026g0324 a0007c0007t0027g0322 |
3 | 330 | 0.0091 | -9 | c.673 others(26): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
PHC3_chr3_170082584_170186733 | 170163861 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0042a0001c0001t0050 | a0001c0001t0013g0099 a0001c0001t0013g0101 a0001c0001t0013g0102 others(3): Show |
6 | 160 | 0.0375 | -9 | c.414 others(26): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 4/14 | chr3 | TogoVar | |||||||
PHETA1_chr12_111355679_111374095 | 111363022 | TGCCACCC others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(139): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(3): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0011others(8): Show | a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0011 others(26): Show |
142 | 378 | 0.3757 | -9 | c.397 others(16): Show |
p.Gly others(13): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 3/3 | 770/3114 | 397/750 | 133/249 | chr12 | TogoVar | |||
PHEX_chrX_22027325_22256310 | 22043510 | AAGGTGTC others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02630.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0021a0001c0001t0023others(5): Show | a0001c0001t0003g0045 a0001c0001t0021g0008 a0001c0001t0023g0148 others(5): Show |
8 | 229 | 0.0349 | -9 | c.188 others(26): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22055174 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020a0001c0001t0025others(3): Show | a0001c0001t0003g0029 a0001c0001t0003g0038 a0001c0001t0020g0041 others(5): Show |
8 | 9 | 0.8889 | -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 | 22056763 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0002a0001c0001t0019a0001c0001t0020others(9): Show | a0001c0001t0002g0078 a0001c0001t0019g0065 a0001c0001t0020g0118 others(10): Show |
13 | 100 | 0.1300 | -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 | 22159492 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0011a0001c0001t0020others(3): Show | a0001c0001t0003g0121 a0001c0001t0011g0149 a0001c0001t0020g0041 others(3): Show |
6 | 229 | 0.0262 | -9 | c.140 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22180783 | CCTCATTC others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0003a0001c0001t0020a0001c0001t0023others(9): Show | a0001c0001t0003g0004 a0001c0001t0003g0029 a0001c0001t0020g0003 others(10): Show |
13 | 229 | 0.0568 | -9 | c.158 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22209744 | GCTCCCTC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG02055.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0217 a0001c0001t0002g0064 a0001c0001t0003g0029 others(19): Show |
22 | 208 | 0.1058 | -9 | c.164 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22230229 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02135.hp1 HG02280.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0005a0001c0001t0009a0001c0001t0010others(8): Show | a0001c0001t0005g0196 a0001c0001t0009g0142 a0001c0001t0009g0197 others(15): Show |
18 | 69 | 0.2609 | -9 | c.207 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22248932 | TTAGTGCA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01099.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(8): Show | a0001c0001t0005g0124 a0001c0001t0005g0151 a0001c0001t0005g0196 others(23): Show |
26 | 229 | 0.1135 | -9 | c.*98 others(18): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 980 | chrX | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35805351 | TTTTTTAT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01168.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0110 others(1): Show |
4 | 194 | 0.0206 | -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 | 35885467 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0016a0002c0002t0017 | a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0116 others(25): Show |
28 | 63 | 0.4444 | -9 | c.128 others(30): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45974418 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0069 | a0001c0001t0015g0270 a0001c0001t0015g0271 a0001c0001t0015g0272 others(1): Show |
4 | 5 | 0.8000 | -9 | c.361 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44884041 | GCACCACC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(75): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0022others(13): Show | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0046 others(75): Show |
78 | 298 | 0.2617 | -9 | c.137 others(26): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44983233 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0040 others(210): Show |
213 | 232 | 0.9181 | -9 | c.120 others(28): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF3_chr6_63630802_63731011 | 63723788 | CATTATTA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(68): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0013a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0024others(16): Show | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0031 others(66): Show |
71 | 126 | 0.5635 | -9 | c.*10 others(22): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 16/16 | 10120 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHF6_chrX_134368312_134433790 | 134379427 | CTTTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG01975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0188 a0001c0001t0001g0189 others(4): Show |
7 | 149 | 0.0470 | -9 | c.240 others(26): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72578490 | AAAAGAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02818.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0037 others(11): Show |
15 | 177 | 0.0847 | -9 | c.*25 others(20): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 323 | chrX | TogoVar |