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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGM2L1_chr11_74325316_74403433 | 74402804 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp1 HG02622.hp2 HG02647.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0009a0001c0004t0018 | a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0004t0009g0012 others(9): Show |
13 | 378 | 0.0344 | -20 | c.-46 others(31): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 4372 | chr11 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68376765 | ATTTCTTT others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 130 | 0.0077 | -20 | c.262 others(37): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68406660 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 NA18963.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0003t0001a0001c0004t0002others(1): Show | a0001c0001t0003g0219 a0001c0003t0001g0076 a0001c0003t0001g0078 others(2): Show |
5 | 160 | 0.0313 | -20 | c.104 others(41): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18364079 | GCTGGCTT others(13): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0158 | a0001c0001t0158g0281 | 1 | 409 | 0.0024 | -20 | c.*49 others(29): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 5/5 | 499 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01243.hp2 others(6): Show |
a0001a0004 | a0001c0003a0004c0006 | a0001c0003t0002a0001c0003t0071a0004c0006t0011others(3): Show | a0001c0003t0002g0178 a0001c0003t0071g0191 a0004c0006t0011g0014 others(6): Show |
9 | 24 | 0.3750 | -20 | c.248 others(39): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
PGR_chr11_101024624_101134813 | 101064331 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 18 | 0.0556 | -20 | c.190 others(39): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
PGS1_chr17_78373649_78429659 | 78402411 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(46): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0018 a0001c0001t0001g0331 a0001c0001t0001g0332 others(45): Show |
49 | 241 | 0.2033 | -20 | c.881 others(37): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12830092 | GGAAAGAA others(13): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01192.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0005 a0001c0001t0002g0044 a0001c0001t0002g0079 others(7): Show |
10 | 53 | 0.1887 | -20 | c.250 others(39): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064586 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG03453.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0072 |
2 | 106 | 0.0189 | -20 | c.415 others(39): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064598 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 101 | 0.0099 | -20 | c.415 others(39): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13131200 | TATACACA others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01167.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0025 others(41): Show |
44 | 95 | 0.4632 | -20 | c.416 others(39): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13179701 | GAGATAGA others(13): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG01993.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 others(10): Show |
13 | 45 | 0.2889 | -20 | c.497 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13218853 | AAAGAGAA others(13): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0029 others(3): Show |
6 | 13 | 0.4615 | -20 | c.987 others(37): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13252141 | TGGGCAGA others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01993.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0044 a0001c0001t0002g0074 a0001c0001t0002g0075 others(8): Show |
11 | 108 | 0.1019 | -20 | c.139 others(41): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143736554 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0026 | 1 | 43 | 0.0233 | -20 | c.215 others(39): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143771154 | ATATGTAT others(13): Show |
A | intron_variant | MODIFIER | HG03041.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0303 a0001c0001t0002g0241 |
2 | 306 | 0.0065 | -20 | c.123 others(39): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143771170 | ATATGTAT others(13): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010 | a0002c0002t0002g0073 a0002c0002t0010g0023 a0002c0002t0010g0039 |
3 | 303 | 0.0099 | -20 | c.123 others(39): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143827155 | AATATATA others(13): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG03516.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0056a0001c0001t0057a0002c0002t0001 | a0001c0001t0056g0179 a0001c0001t0057g0188 a0002c0002t0001g0263 |
3 | 38 | 0.0789 | -20 | c.*34 others(31): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 13/13 | 3491 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59635101 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0131 | 1 | 200 | 0.0050 | -20 | c.118 others(39): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59716206 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00741.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0058 a0001c0001t0001g0059 others(17): Show |
20 | 31 | 0.6452 | -20 | c.119 others(39): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59723060 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02165.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0003 | a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0118 others(4): Show |
7 | 52 | 0.1346 | -20 | c.119 others(39): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59751186 | GGGGTTAA others(13): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0100 a0001c0001t0001g0157 others(5): Show |
8 | 248 | 0.0323 | -20 | c.358 others(37): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59822000 | AATCCCAC others(13): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02148.hp2 NA18975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0127 a0001c0001t0001g0166 a0001c0001t0003g0039 others(1): Show |
4 | 200 | 0.0200 | -20 | c.132 others(41): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59822090 | CCAGCGAT others(13): Show |
C | intron_variant | MODIFIER | HG01928.hp2 HG02615.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0148 others(3): Show |
6 | 246 | 0.0244 | -20 | c.132 others(41): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59822146 | CTCCGCAG others(13): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0041 a0001c0001t0001g0192 a0001c0001t0001g0195 others(2): Show |
5 | 246 | 0.0203 | -20 | c.132 others(41): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59822175 | GATCCCAC others(13): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG02015.hp1 HG02071.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0059 a0001c0001t0001g0186 others(5): Show |
8 | 244 | 0.0328 | -20 | c.132 others(41): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28409951 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0043 | 1 | 49 | 0.0204 | -20 | c.16+ others(35): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28458097 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0134 | 1 | 195 | 0.0051 | -20 | c.17- others(33): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHAX_chr5_126595947_126632252 | 126630923 | CTTATTTA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0023a0001c0001t0032 | a0001c0001t0006g0013 a0001c0001t0006g0038 a0001c0001t0006g0041 others(6): Show |
11 | 253 | 0.0435 | -20 | c.*60 others(31): Show |
PHAX | ENSG00000164902.14 | transcript | ENST00000297540.5 | protein_coding | 3672 | chr5 | TogoVar | |||||||
PHC1_chr12_8909509_8946467 | 8927853 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0166 | 1 | 238 | 0.0042 | -20 | c.613 others(37): Show |
PHC1 | ENSG00000111752.11 | transcript | ENST00000544916.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170111261 | AGAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG02027.hp2 HG02055.hp2 HG02622.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0014 | a0001c0001t0009a0001c0001t0018a0001c0003t0006others(1): Show | a0001c0001t0009g0114 a0001c0001t0009g0117 a0001c0001t0009g0118 others(8): Show |
11 | 133 | 0.0827 | -20 | c.235 others(39): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
PHEX_chrX_22027325_22256310 | 22055174 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0044 a0001c0001t0016g0162 |
2 | 3 | 0.6667 | -20 | c.349 others(37): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22113005 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01070.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0145 a0001c0001t0002g0078 a0001c0001t0003g0028 others(27): Show |
30 | 108 | 0.2778 | -20 | c.117 others(39): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22139140 | GAGATTGG others(13): Show |
G | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 228 | 0.0044 | -20 | c.140 others(39): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHF10_chr6_169698902_169729500 | 169706727 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02300.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0127 a0001c0001t0003g0111 |
2 | 34 | 0.0588 | -20 | c.111 others(39): Show |
PHF10 | ENSG00000130024.15 | transcript | ENST00000339209.9 | protein_coding | 9/11 | chr6 | TogoVar | |||||||
PHF11_chr13_49490953_49533976 | 49533955 | GCCGTACA others(13): Show |
G | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 411 | 0.0024 | -20 | c.*52 others(31): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 4980 | chr13 | TogoVar | |||||||
PHF14_chr7_10968872_11174618 | 11162072 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 27 | 0.0370 | -20 | c.277 others(39): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHF1_chr6_33406014_33421439 | 33409705 | CTGTGTGT others(13): Show |
C | upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 64 | 0.0156 | -20 | c.-15 others(31): Show |
PHF1 | ENSG00000112511.18 | transcript | ENST00000374516.8 | protein_coding | 1308 | chr6 | TogoVar | |||||||
PHF20_chr20_35767015_35955370 | 35791441 | GTATCTAT others(13): Show |
G | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 29 | 0.0345 | -20 | c.-32 others(38): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45975322 | CAAAATAA others(13): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00642.hp1 others(60): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(60): Show |
63 | 214 | 0.2944 | -20 | c.361 others(37): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | |||||||
PHF21A_chr11_45924319_46126454 | 46030820 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0131 | 1 | 275 | 0.0036 | -20 | c.153 others(39): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44956614 | GCGGCTGC others(13): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0235 | 1 | 298 | 0.0034 | -20 | c.121 others(39): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44961845 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0021 | 1 | 134 | 0.0075 | -20 | c.121 others(39): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF3_chr6_63630802_63731011 | 63658708 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(86): Show |
102 | 113 | 0.9027 | -20 | c.244 others(39): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHF5A_chr22_41454717_41473692 | 41467677 | GGGGAAAT others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0020 others(19): Show |
73 | 406 | 0.1798 | -20 | c.77- others(31): Show |
PHF5A | ENSG00000100410.8 | transcript | ENST00000216252.4 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
PHF6_chrX_134368312_134433790 | 134406062 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01243.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003 a0001c0001t0004g0010 |
5 | 60 | 0.0833 | -20 | c.419 others(37): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72578489 | AAAAAGAA others(13): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0087 a0001c0001t0003g0136 a0001c0001t0006g0004 |
4 | 166 | 0.0241 | -20 | c.*24 others(31): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 324 | chrX | TogoVar | |||||||
PHLDB1_chr11_118602615_118663028 | 118609314 | TTACACAC others(13): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0012 a0001c0005t0001g0048 |
4 | 354 | 0.0113 | -20 | c.-22 others(37): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 1/22 | chr11 | TogoVar | |||||||
PHLDB1_chr11_118602615_118663028 | 118648269 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG02135.hp2 HG02698.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0002t0002g0226 others(2): Show |
5 | 37 | 0.1351 | -20 | c.365 others(37): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62801009 | TTCCCTCC others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG03710.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0001 | a0001c0001t0001g0111 a0001c0001t0001g0183 a0001c0001t0009g0185 others(7): Show |
10 | 23 | 0.4348 | -20 | c.157 others(41): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |