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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PFDN1_chr5_140240035_140308101 | 140276015 | TTGATGAT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 others(85): Show |
91 | 330 | 0.2758 | -15 | c.285 others(32): Show |
PFDN1 | ENSG00000113068.10 | transcript | ENST00000261813.9 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
PFDN2_chr1_161095561_161123037 | 161103683 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02970.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0079 others(1): Show |
5 | 370 | 0.0135 | -15 | c.76- others(30): Show |
PFDN2 | ENSG00000143256.5 | transcript | ENST00000368010.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PFKFB1_chrX_54927961_54999188 | 54995163 | GTATAACT others(8): Show |
G | upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 222 | 0.0045 | -15 | c.-11 others(26): Show |
PFKFB1 | ENSG00000158571.11 | transcript | ENST00000375006.8 | protein_coding | 976 | chrX | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6200674 | GGCGGGGG others(8): Show |
G | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 432 | 0.0023 | -15 | c.-25 others(26): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 2257 | chr10 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6201528 | CCCTCGGC others(8): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 2 | 432 | 0.0046 | -15 | c.-17 others(26): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1403 | chr10 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6203432 | GCGCGCCC others(8): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0086a0001c0001t0087 | a0001c0001t0086g0416 a0001c0001t0087g0415 |
2 | 432 | 0.0046 | -15 | c.76+ others(28): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKFB4_chr3_48512684_48561803 | 48551519 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 246 | 0.0041 | -15 | c.98- others(30): Show |
PFKFB4 | ENSG00000114268.12 | transcript | ENST00000232375.8 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3106520 | CTGCGGTG others(8): Show |
C | intron_variant | MODIFIER | HG02135.hp2 NA18612.hp1 |
a0001 | a0001c0003a0001c0029 | a0001c0003t0010a0001c0029t0001 | a0001c0003t0010g0023 a0001c0029t0001g0304 |
2 | 402 | 0.0050 | -15 | c.775 others(30): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97428413 | AGTCCACA others(8): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 438 | 0.0023 | -15 | c.140 others(32): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
PGAP1_chr2_196828004_196931707 | 196914619 | CAAACAAA others(8): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG02630.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0001t0019a0001c0001t0020others(3): Show | a0001c0001t0012g0009 a0001c0001t0019g0015 a0001c0001t0020g0014 others(6): Show |
9 | 188 | 0.0479 | -15 | c.478 others(32): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 3/26 | chr2 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39682225 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0044 | 2 | 376 | 0.0053 | -15 | c.432 others(32): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
PGAP4_chr9_101468170_101492173 | 101491817 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 460 | 0.0022 | -15 | c.-49 others(26): Show |
PGAP4 | ENSG00000165152.9 | transcript | ENST00000374848.8 | protein_coding | 4645 | chr9 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 381890 | AGCCTCTG others(8): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(182): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0034others(18): Show | a0001c0001t0008a0001c0004t0001a0001c0034t0003others(27): Show | a0001c0001t0008g0033 a0001c0001t0008g0035 a0001c0004t0001g0021 others(85): Show |
185 | 376 | 0.4920 | -15 | c.-84 others(22): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/13 | 70 | chr16 | TogoVar | ||||||
PGBD4_chr15_34097083_34113686 | 34110582 | ATCTTTGG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0000 | 1 | 400 | 0.0025 | -15 | c.*62 others(26): Show |
PGBD4 | ENSG00000182405.6 | transcript | ENST00000397766.4 | protein_coding | 1897 | chr15 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230338948 | ATAAGTTC others(8): Show |
A | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0095 | a0001c0002t0095g0228 | 1 | 288 | 0.0035 | -15 | c.895 others(32): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
PGK1_chrX_78099248_78134295 | 78132602 | ATTCCAAT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0010 | 1 | 308 | 0.0033 | -15 | c.*67 others(26): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 3308 | chrX | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15467839 | TTCCTTCC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0239 | 1 | 382 | 0.0026 | -15 | c.*80 others(24): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 805 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15470238 | TTCTTTCC others(8): Show |
T | intron_variant | MODIFIER | NA18612.hp2 NA18946.hp1 NA18981.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 a0002c0002t0001g0052 a0002c0002t0001g0094 |
4 | 382 | 0.0105 | -15 | c.134 others(32): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp2 NA18522.hp2 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0062 a0006c0008t0001g0063 a0006c0008t0001g0064 others(1): Show |
4 | 382 | 0.0105 | -15 | c.113 others(34): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63597178 | GGAGGGAG others(8): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 HG02280.hp1 others(9): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0006a0003c0003others(3): Show | a0001c0001t0003a0001c0006t0001a0001c0006t0003others(5): Show | a0001c0001t0003g0140 a0001c0001t0003g0147 a0001c0006t0001g0350 others(9): Show |
12 | 366 | 0.0328 | -15 | c.246 others(32): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63617730 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02280.hp1 NA19043.hp2 |
a0006a0008 | a0006c0007a0008c0009 | a0006c0007t0001a0008c0009t0001 | a0006c0007t0001g0157 a0008c0009t0001g0139 |
2 | 366 | 0.0055 | -15 | c.247 others(34): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68356956 | GGGCGGGC others(8): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02109.hp1 HG03209.hp2 |
a0003 | a0003c0008 | a0003c0008t0029a0003c0008t0030 | a0003c0008t0029g0234 a0003c0008t0030g0235 |
2 | 246 | 0.0081 | -15 | c.-16 others(24): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/11 | 148 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGPEP1L_chr15_98963229_99012792 | 98972313 | ATCGCACT others(8): Show |
A | intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 398 | 0.0025 | -15 | c.-14 others(34): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98979630 | ATTCTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01168.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0053 a0002c0002t0001g0001 a0002c0002t0001g0015 others(14): Show |
18 | 398 | 0.0452 | -15 | c.-14 others(34): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGPEP1L_chr15_98963229_99012792 | 98979633 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 398 | 0.0025 | -15 | c.-14 others(34): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101030599 | CAGGCATA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0084 | a0001c0002t0084g0216 | 1 | 254 | 0.0039 | -15 | c.*85 others(26): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 8/8 | 8502 | chr11 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00642.hp2 others(40): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(17): Show | a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0065 others(40): Show |
43 | 254 | 0.1693 | -15 | c.248 others(34): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101064331 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0089a0001c0001t0090 | a0001c0001t0004g0234 a0001c0001t0089g0235 a0001c0001t0090g0233 |
3 | 254 | 0.0118 | -15 | c.190 others(34): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78391961 | GGTGCTTC others(8): Show |
G | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 398 | 0.0025 | -15 | c.144 others(30): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78425756 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 a0001c0002t0001g0186 |
2 | 398 | 0.0050 | -15 | c.*17 others(26): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1098 | chr17 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 12763215 | AAACAACA others(8): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 108 | 0.0093 | -15 | c.250 others(34): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12792464 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0002g0006 |
2 | 108 | 0.0185 | -15 | c.250 others(34): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12845472 | GCTTTGCA others(8): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG02055.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0088 others(9): Show |
12 | 108 | 0.1111 | -15 | c.250 others(34): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 12959186 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02717.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0009 a0001c0001t0002g0047 a0001c0002t0002g0026 |
3 | 108 | 0.0278 | -15 | c.251 others(34): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13218853 | AAAGAGAA others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01192.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0025 a0001c0001t0002g0047 a0001c0001t0002g0102 others(11): Show |
14 | 108 | 0.1296 | -15 | c.987 others(32): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13231071 | GGAAGGAA others(8): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 108 | 0.0093 | -15 | c.139 others(32): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13288116 | CTCTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02647.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 others(2): Show |
5 | 108 | 0.0463 | -15 | c.*10 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 280 | chr6 | TogoVar | |||||||
PHACTR2_chr6_143672965_143836185 | 143779899 | TTTATATT others(8): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01071.hp1 others(27): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(22): Show | a0001c0001t0001g0225 a0001c0001t0002g0286 a0001c0001t0008g0048 others(27): Show |
30 | 310 | 0.0968 | -15 | c.164 others(34): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143827156 | ATATATAT others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0216 | 1 | 310 | 0.0032 | -15 | c.*34 others(26): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 13/13 | 3468 | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59686529 | GGTGATGA others(8): Show |
G | intron_variant | MODIFIER | HG03239.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0207 a0001c0001t0003g0042 |
2 | 250 | 0.0080 | -15 | c.119 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59686632 | GTGATGAT others(8): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0245 | 1 | 250 | 0.0040 | -15 | c.119 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59687007 | GTGATGAT others(8): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 250 | 0.0040 | -15 | c.119 others(34): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59822058 | GCGATCCG others(8): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0035 | 1 | 250 | 0.0040 | -15 | c.132 others(36): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHAF1_chr16_67104941_67153544 | 67126081 | GGCCAGTC others(8): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 230 | 0.0044 | -15 | c.231 others(28): Show |
PHAF1 | ENSG00000125149.12 | transcript | ENST00000219139.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHAX_chr5_126595947_126632252 | 126607388 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0109 | 1 | 382 | 0.0026 | -15 | c.711 others(30): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PHC1_chr12_8909509_8946467 | 8927898 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG01952.hp1 HG02647.hp2 others(2): Show |
a0001a0003 | a0001c0005a0001c0010a0003c0006 | a0001c0005t0001a0001c0010t0001a0003c0006t0001 | a0001c0005t0001g0175 a0001c0010t0001g0089 a0001c0010t0001g0090 others(1): Show |
5 | 368 | 0.0136 | -15 | c.613 others(32): Show |
PHC1 | ENSG00000111752.11 | transcript | ENST00000544916.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33349191 | CAGGCGCC others(8): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0292 | 1 | 370 | 0.0027 | -15 | c.155 others(34): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 9/14 | chr1 | TogoVar | |||||||
PHC2_chr1_33318626_33436095 | 33360530 | TGACACAT others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02622.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0264 a0001c0006t0003g0265 a0001c0006t0003g0266 |
3 | 370 | 0.0081 | -15 | c.977 others(32): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22232596 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG02293.hp2 HG03239.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0001g0208 a0001c0001t0001g0219 a0001c0001t0006g0111 others(5): Show |
8 | 231 | 0.0346 | -15 | c.207 others(34): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHF11_chr13_49490953_49533976 | 49515489 | CACACACA others(8): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 414 | 0.0024 | -15 | c.324 others(32): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 3/9 | chr13 | TogoVar |