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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDLIM7_chr5_177478394_177502604 | 177498672 | TGGAGGCC others(37): Show |
T | upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 440 | 0.0023 | -44 | c.-12 others(55): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 1069 | chr5 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107221076 | CTCACGCC others(37): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0260 | 1 | 260 | 0.0039 | -44 | c.703 others(61): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43744155 | CACCCAGG others(37): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0045 | 1 | 358 | 0.0028 | -44 | c.331 others(59): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402558 | TACTGAGT others(37): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0115 | 1 | 206 | 0.0049 | -44 | c.844 others(65): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216074497 | GAAGGAAG others(37): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 | 1 | 398 | 0.0025 | -44 | c.124 others(61): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2416295 | CAGTTCTG others(37): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 358 | 0.0028 | -44 | c.-38 others(55): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 3732 | chr1 | TogoVar | |||||||
PEX11B_chr1_145906350_145923717 | 145909491 | AATATATA others(37): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 368 | 0.0054 | -44 | c.*26 others(55): Show |
PEX11B | ENSG00000131779.11 | transcript | ENST00000369306.8 | protein_coding | 1858 | chr1 | TogoVar | |||||||
PGAM5_chr12_132705842_132727734 | 132717313 | GGTGTTTG others(37): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01167.hp1 others(22): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0022others(2): Show | a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0089 others(11): Show |
25 | 394 | 0.0635 | -44 | c.371 others(57): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064574 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 108 | 0.0093 | -44 | c.415 others(63): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143771146 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0068 | 1 | 310 | 0.0032 | -44 | c.123 others(63): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143771150 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG02165.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0019 | a0001c0001t0043a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0001t0043g0157 a0001c0003t0001g0140 a0001c0003t0002g0212 others(6): Show |
9 | 310 | 0.0290 | -44 | c.123 others(63): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(37): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02895.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0303 others(2): Show |
5 | 350 | 0.0143 | -44 | c.*51 others(55): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720401 | GTGTATGT others(37): Show |
G | intron_variant | MODIFIER | HG03130.hp1 NA19043.hp2 |
a0002a0004 | a0002c0076a0004c0075 | a0002c0076t0002a0004c0075t0002 | a0002c0076t0002g0111 a0004c0075t0002g0072 |
2 | 158 | 0.0127 | -44 | c.503 others(63): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10880846 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01943.hp1 HG01975.hp2 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0006a0001c0028a0002c0038others(4): Show | a0001c0006t0001a0001c0028t0001a0002c0038t0001others(4): Show | a0001c0006t0001g0138 a0001c0028t0001g0031 a0002c0038t0001g0024 others(4): Show |
7 | 158 | 0.0443 | -44 | c.330 others(61): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIGK_chr1_77083989_77224430 | 77189716 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 366 | 0.0027 | -44 | c.239 others(63): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571494 | GTGTGTGT others(37): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0004a0001c0008 | a0001c0004t0004a0001c0008t0004a0001c0008t0016 | a0001c0004t0004g0324 a0001c0008t0004g0325 a0001c0008t0004g0328 others(1): Show |
4 | 408 | 0.0098 | -44 | c.-10 others(61): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGT_chr20_45411141_45431241 | 45425141 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG01934.hp1 NA18939.hp2 NA18944.hp2 others(28): Show |
a0001a0012 | a0001c0001a0012c0015 | a0001c0001t0001a0012c0015t0001 | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0025 others(15): Show |
31 | 462 | 0.0671 | -44 | c.148 others(61): Show |
PIGT | ENSG00000124155.19 | transcript | ENST00000279036.12 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631753 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0215 | 1 | 320 | 0.0031 | -44 | c.529 others(61): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631759 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 others(7): Show |
10 | 320 | 0.0313 | -44 | c.529 others(61): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17181621 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG03831.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0036 a0001c0003t0004g0057 |
2 | 342 | 0.0059 | -44 | c.-65 others(63): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17181623 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG03579.hp2 NA18966.hp2 NA19078.hp2 others(1): Show |
a0001 | a0001c0003a0001c0018 | a0001c0003t0004a0001c0003t0012a0001c0018t0016 | a0001c0003t0004g0024 a0001c0003t0004g0049 a0001c0003t0012g0102 others(1): Show |
4 | 342 | 0.0117 | -44 | c.-65 others(63): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17181625 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 342 | 0.0029 | -44 | c.-65 others(63): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18650700 | GTGTGTAT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0121 | 1 | 176 | 0.0057 | -44 | c.*26 others(55): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2285 | chr12 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18650702 | GTGTATAT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03688.hp1 |
a0001a0003 | a0001c0021a0003c0003 | a0001c0021t0004a0003c0003t0004 | a0001c0021t0004g0170 a0003c0003t0004g0168 |
2 | 176 | 0.0114 | -44 | c.*26 others(55): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2287 | chr12 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18650704 | GTATATAT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02683.hp2 |
a0001a0007 | a0001c0010a0007c0013 | a0001c0010t0003a0007c0013t0001 | a0001c0010t0003g0171 a0007c0013t0001g0001 |
2 | 176 | 0.0114 | -44 | c.*26 others(55): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2289 | chr12 | TogoVar | |||||||
PIK3C3_chr18_41950234_42092830 | 42054126 | GTATATAT others(37): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0007 | a0001c0007t0049 | a0001c0007t0049g0013 | 1 | 340 | 0.0029 | -44 | c.226 others(63): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3625975 | AGTCCTGC others(37): Show |
A | downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 332 | 0.0030 | -44 | c.*71 others(55): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 4207 | chr19 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109394291 | ACCCGCCT others(37): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 a0001c0001t0001g0262 |
2 | 346 | 0.0058 | -44 | c.-87 others(63): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100315005 | AGGAAGGA others(37): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 306 | 0.0033 | -44 | c.349 others(63): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321720 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 2 | 306 | 0.0065 | -44 | c.349 others(61): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKN2_chr1_88679273_88841255 | 88820191 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0005a0001c0005t0008 | a0001c0003t0005g0007 a0001c0003t0005g0148 a0001c0003t0005g0149 others(8): Show |
11 | 330 | 0.0333 | -44 | c.228 others(63): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKN3_chr9_128697503_128725916 | 128725116 | AGGGACTG others(37): Show |
A | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 360 | 0.0028 | -44 | c.*45 others(55): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 4201 | chr9 | TogoVar | |||||||
PLAG1_chr8_56155909_56216273 | 56207736 | ATAGCTTC others(37): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 308 | 0.0033 | -44 | c.-32 others(63): Show |
PLAG1 | ENSG00000181690.8 | transcript | ENST00000316981.8 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8831912 | CTCTTTCT others(37): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02258.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0019 a0001c0001t0002g0050 a0001c0001t0010g0008 others(10): Show |
13 | 106 | 0.1226 | -44 | c.342 others(65): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCE1_chr10_93988931_94337823 | 94141504 | GAAGGGAA others(37): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01175.hp1 others(19): Show |
a0001a0002a0004others(7): Show | a0001c0007a0002c0011a0004c0008others(12): Show | a0001c0007t0023a0002c0011t0009a0004c0008t0008others(18): Show | a0001c0007t0023g0039 a0002c0011t0009g0089 a0004c0008t0008g0045 others(19): Show |
22 | 118 | 0.1864 | -44 | c.149 others(63): Show |
PLCE1 | ENSG00000138193.17 | transcript | ENST00000371380.8 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLCH2_chr1_2471289_2510532 | 2483836 | GTGGCGCT others(37): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp2 HG03209.hp2 others(6): Show |
a0001a0017a0023others(1): Show | a0001c0001a0001c0002a0017c0033others(2): Show | a0001c0001t0002a0001c0002t0001a0017c0033t0001others(2): Show | a0001c0001t0002g0036 a0001c0001t0002g0144 a0001c0002t0001g0019 others(4): Show |
9 | 383 | 0.0235 | -44 | c.646 others(59): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | chr1 | TogoVar | |||||||
PLCH2_chr1_2471289_2510532 | 2483919 | TGGGGGGG others(37): Show |
T | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 383 | 0.0026 | -44 | c.646 others(59): Show |
PLCH2 | ENSG00000149527.18 | transcript | ENST00000378486.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCL1_chr2_197799593_198154863 | 197890805 | CTATATAT others(37): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(141): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0020others(48): Show | a0001c0001t0005g0143 a0001c0001t0010g0204 a0001c0001t0020g0056 others(141): Show |
144 | 204 | 0.7059 | -44 | c.240 others(63): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764880 | AAAGAAAG others(37): Show |
A | intron_variant | MODIFIER | NA18948.hp2 NA18957.hp2 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0021 | a0002c0003t0003g0001 a0002c0003t0021g0064 |
2 | 294 | 0.0068 | -44 | c.-31 others(63): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764933 | GGAAAGAA others(37): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02109.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0081 |
3 | 294 | 0.0102 | -44 | c.-31 others(63): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242194574 | CTATCTAT others(37): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0043 others(11): Show |
14 | 188 | 0.0745 | -44 | c.735 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242393563 | TATATGTG others(37): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0146 | 1 | 188 | 0.0053 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242393664 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012 | 1 | 188 | 0.0053 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242394294 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG02559.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0006g0103 |
3 | 188 | 0.0160 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242394433 | AGTATATA others(37): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0013a0001c0002t0070 | a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0002t0013g0170 others(1): Show |
4 | 188 | 0.0213 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242394727 | CATATATG others(37): Show |
C | intron_variant | MODIFIER | NA18998.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0058 a0001c0001t0019g0087 |
2 | 188 | 0.0106 | -44 | c.190 others(63): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLEKHA6_chr1_204213853_204364929 | 204360271 | CCCAGCCA others(37): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 NA21309.hp2 |
a0003a0016 | a0003c0022a0016c0025 | a0003c0022t0001a0016c0025t0055 | a0003c0022t0001g0015 a0016c0025t0055g0014 |
2 | 270 | 0.0074 | -44 | c.-71 others(53): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 343 | chr1 | TogoVar | |||||||
PLEKHG1_chr6_150594885_150848665 | 150776929 | TCACATCA others(37): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp1 NA20300.hp2 |
a0001a0014 | a0001c0001a0001c0037a0014c0036 | a0001c0001t0001a0001c0037t0021a0014c0036t0001 | a0001c0001t0001g0232 a0001c0037t0021g0181 a0014c0036t0001g0231 |
3 | 272 | 0.0110 | -44 | c.512 others(61): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG2_chr19_39407669_39433415 | 39429585 | GCAGTGGT others(37): Show |
G | downstream_gene_variant | MODIFIER | HG02074.hp2 HG02165.hp1 HG03579.hp2 others(2): Show |
a0001a0025 | a0001c0001a0025c0027 | a0001c0001t0001a0001c0001t0022a0025c0027t0040 | a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0022g0037 others(2): Show |
5 | 414 | 0.0121 | -44 | c.*42 others(55): Show |
PLEKHG2 | ENSG00000090924.15 | transcript | ENST00000425673.6 | protein_coding | 1171 | chr19 | TogoVar | |||||||
PLEKHG3_chr14_64699424_64755249 | 64716458 | ACACACAC others(37): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0072 | 1 | 248 | 0.0040 | -44 | c.-39 others(63): Show |
PLEKHG3 | ENSG00000126822.18 | transcript | ENST00000247226.13 | protein_coding | 1/16 | chr14 | TogoVar |