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 | 3100862 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02965.hp1 |
a0001 | a0001c0008a0001c0014 | a0001c0008t0005a0001c0014t0006 | a0001c0008t0005g0341 a0001c0014t0006g0229 |
2 | 10 | 0.2000 | 17 | c.265 others(32): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3118183 | C | CAATTATT others(10): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0317 | 1 | 400 | 0.0025 | 17 | c.144 others(34): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196832775 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 9 | 0.1111 | 17 | c.*84 others(28): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 228 | chr2 | TogoVar | |||||||
PGAP1_chr2_196828004_196931707 | 196832775 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02622.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0139 a0001c0001t0002g0140 others(5): Show |
9 | 17 | 0.5294 | 17 | c.*84 others(28): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 228 | chr2 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691556 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0044 | 1 | 243 | 0.0041 | 17 | c.-35 others(28): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3500 | chr17 | TogoVar | |||||||
PGK1_chrX_78099248_78134295 | 78127630 | G | GCTATAGA others(10): Show |
3_prime_UTR_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0002 | 1 | 306 | 0.0033 | 17 | c.*18 others(28): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 11/11 | 1820 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PGLYRP2_chr19_15463645_15484501 | 15467838 | T | TTTTCCTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG02257.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0274 a0002c0002t0001g0186 |
2 | 125 | 0.0160 | 17 | c.*82 others(26): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 806 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15477707 | T | TAAAAATA others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0245 | 1 | 377 | 0.0027 | 17 | c.62- others(32): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482612 | C | CTTCCTTC others(10): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 155 | 0.0065 | 17 | c.-32 others(28): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3112 | chr19 | TogoVar | |||||||
PGLYRP3_chr1_153292116_153317952 | 153297532 | A | AAAGAAAA others(10): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0080 | a0002c0002t0080g0133 | 1 | 432 | 0.0023 | 17 | c.*42 others(26): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 423 | chr1 | TogoVar | ||||||
PGLYRP4_chr1_153325120_153353841 | 153350648 | A | AGAAAGAA others(10): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 154 | 0.0065 | 17 | c.-21 others(28): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1808 | chr1 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74355553 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 168 | 0.0060 | 17 | c.556 others(34): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 5/13 | chr11 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74389947 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03492.hp2 HG04204.hp2 others(1): Show |
a0001a0004 | a0001c0004a0004c0005 | a0001c0004t0016a0004c0005t0014a0004c0005t0047 | a0001c0004t0016g0349 a0004c0005t0014g0183 a0004c0005t0014g0184 others(1): Show |
4 | 67 | 0.0597 | 17 | c.111 others(34): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM2_chr4_37821686_37867937 | 37841158 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0383 | 1 | 205 | 0.0049 | 17 | c.719 others(32): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
PGM2_chr4_37821686_37867937 | 37841188 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02559.hp1 HG02559.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0009others(3): Show | a0001c0002t0002g0042 a0001c0002t0002g0059 a0001c0002t0002g0070 others(12): Show |
15 | 372 | 0.0403 | 17 | c.719 others(32): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68376834 | T | TTTCTCTT others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG03942.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0035 others(4): Show |
7 | 199 | 0.0352 | 17 | c.262 others(34): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68376835 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG02647.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0008 | a0001c0001t0004a0001c0003t0001a0001c0003t0005others(1): Show | a0001c0001t0004g0085 a0001c0003t0001g0017 a0001c0003t0005g0013 others(2): Show |
5 | 180 | 0.0278 | 17 | c.262 others(34): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0107a0001c0001t0246 | a0001c0001t0107g0110 a0001c0001t0246g0109 |
2 | 93 | 0.0215 | 17 | c.-19 others(28): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18352266 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0208 | 1 | 75 | 0.0133 | 17 | c.88- others(32): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18363033 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0255 | 1 | 54 | 0.0185 | 17 | c.438 others(32): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18363060 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0101 | 1 | 410 | 0.0024 | 17 | c.438 others(32): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18364083 | G | GCTTTTCT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG02080.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0043a0001c0001t0044a0001c0001t0045others(16): Show | a0001c0001t0043g0190 a0001c0001t0043g0253 a0001c0001t0044g0011 others(19): Show |
22 | 193 | 0.1140 | 17 | c.*50 others(26): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 505 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGR_chr11_101024624_101134813 | 101046292 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0199 | 1 | 16 | 0.0625 | 17 | c.248 others(36): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101107865 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 |
a0003 | a0003c0005 | a0003c0005t0006a0003c0005t0052 | a0003c0005t0006g0166 a0003c0005t0052g0170 |
2 | 104 | 0.0192 | 17 | c.179 others(38): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78390062 | T | TCCCCCGC others(10): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02451.hp1 NA18940.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0301 others(2): Show |
5 | 231 | 0.0216 | 17 | c.144 others(34): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12830129 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02818.hp1 NA18906.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0097 others(3): Show |
6 | 87 | 0.0690 | 17 | c.250 others(36): 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(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 38 | 0.0263 | 17 | c.251 others(36): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13000639 | A | AGGAAGGA others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 108 | 0.0093 | 17 | c.251 others(36): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13073331 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0029 |
2 | 18 | 0.1111 | 17 | c.415 others(36): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13195757 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03130.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0050 a0001c0001t0001g0100 others(1): Show |
4 | 50 | 0.0800 | 17 | c.665 others(36): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59622981 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0050 a0001c0001t0001g0149 a0001c0001t0004g0189 |
3 | 32 | 0.0938 | 17 | c.118 others(36): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59622989 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG02698.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0120 a0001c0001t0001g0121 others(4): Show |
7 | 243 | 0.0288 | 17 | c.118 others(36): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 117 | 0.0085 | 17 | c.118 others(36): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59776745 | G | GGCAGCGT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(96): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 others(96): Show |
99 | 248 | 0.3992 | 17 | c.117 others(36): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28409951 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0092 | 1 | 49 | 0.0204 | 17 | c.16+ others(32): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28450974 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00741.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 others(6): Show |
9 | 85 | 0.1059 | 17 | c.17- others(32): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28476772 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01167.hp2 HG01433.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0011others(1): Show | a0002c0002t0002g0160 a0002c0002t0002g0192 a0002c0002t0002g0205 others(4): Show |
7 | 100 | 0.0700 | 17 | c.160 others(34): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHAF1_chr16_67104941_67153544 | 67117199 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 129 | 0.0078 | 17 | c.65- others(32): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHAX_chr5_126595947_126632252 | 126609095 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02965.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0058 others(1): Show |
4 | 168 | 0.0238 | 17 | c.831 others(32): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170126529 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0099 | 1 | 309 | 0.0032 | 17 | c.178 others(36): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
PHETA1_chr12_111355679_111374095 | 111358247 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 99 | 0.0101 | 17 | c.*44 others(28): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 2431 | chr12 | TogoVar | |||||||
PHETA1_chr12_111355679_111374095 | 111373886 | T | TGCTATCC others(10): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 378 | 0.0026 | 17 | c.-51 others(28): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 4792 | chr12 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22055174 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 2 | 0.5000 | 17 | c.349 others(34): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22185756 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0174 | 1 | 130 | 0.0077 | 17 | c.158 others(36): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22249453 | A | ATATATAT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0077 | a0001c0001t0021g0012 a0001c0001t0021g0013 a0001c0001t0077g0031 |
3 | 212 | 0.0142 | 17 | c.*15 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1501 | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAAAAAAA others(10): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0165 | 1 | 70 | 0.0143 | 17 | c.*15 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAAAAAAT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0124 a0001c0001t0018g0060 |
2 | 71 | 0.0282 | 17 | c.*15 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAATATAT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019 | a0001c0001t0008g0107 a0001c0001t0019g0065 |
2 | 71 | 0.0282 | 17 | c.*15 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249455 | A | ATATATAT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 70 | 0.0143 | 17 | c.*15 others(28): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1503 | chrX | TogoVar | ||||||
PHF12_chr17_28900250_28956518 | 28923651 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02615.hp1 HG02922.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0078 others(7): Show |
10 | 209 | 0.0478 | 17 | c.715 others(32): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 4/14 | chr17 | TogoVar |