regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLCZ1_chr12_18678180_18743012 | 18739510 | TGTGAGAG others(5): Show |
T | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 326 | 0.0031 | -12 | c.-17 others(23): Show |
PLCZ1 | ENSG00000139151.16 | transcript | ENST00000266505.12 | protein_coding | 1499 | chr12 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171599827 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02647.hp2 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0018 | a0001c0002t0004g0253a0001c0002t0004g0265a0001c0002t0018g0120 | 3 | 294 | 0.0102 | -12 | c.*32 others(23): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 576 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171609507 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03130.hp1 HG03453.hp1 others(1): Show |
a0001a0006a0012 | a0001c0002a0006c0014a0012c0023 | a0001c0002t0004a0006c0014t0011a0012c0023t0011 | a0001c0002t0004g0007a0006c0014t0011g0117a0006c0014t0011g0180others(1): Show | 4 | 294 | 0.0136 | -12 | c.288 others(31): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 25/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171623344 | TCGCTCTG others(5): Show |
T | intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0159 | 1 | 294 | 0.0034 | -12 | c.259 others(31): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171635965 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02647.hp2 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0004a0002c0003t0004 | a0001c0002t0002g0076a0001c0002t0002g0184a0001c0002t0004g0265others(1): Show | 4 | 294 | 0.0136 | -12 | c.259 others(31): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171652766 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp1 |
a0002a0006 | a0002c0003a0006c0014 | a0002c0003t0005a0006c0014t0011 | a0002c0003t0005g0170a0006c0014t0011g0117 | 2 | 294 | 0.0068 | -12 | c.242 others(31): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 21/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171682108 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02056.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0055 | 3 | 294 | 0.0102 | -12 | c.186 others(31): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 16/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171711167 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02647.hp1 others(8): Show |
a0001a0010 | a0001c0002a0001c0005a0010c0013 | a0001c0002t0002a0001c0005t0010a0001c0005t0012others(3): Show | a0001c0002t0002g0004a0001c0005t0010g0087a0001c0005t0010g0088others(8): Show | 11 | 294 | 0.0374 | -12 | c.912 others(29): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 9/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764825 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01361.hp2 HG02559.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0023others(4): Show | a0001c0001t0001g0045a0001c0001t0001g0056a0001c0001t0001g0108others(12): Show | 15 | 294 | 0.0510 | -12 | c.-31 others(31): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764884 | AAAGAAAG others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0090 | 1 | 294 | 0.0034 | -12 | c.-31 others(31): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764903 | GGAAGGAA others(5): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0014 | a0014c0022 | a0014c0022t0007 | a0014c0022t0007g0285 | 1 | 294 | 0.0034 | -12 | c.-31 others(31): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764933 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp2 others(8): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0014 | a0001c0001t0001a0001c0001t0006a0001c0002t0007others(1): Show | a0001c0001t0001g0089a0001c0001t0001g0108a0001c0001t0001g0126others(8): Show | 11 | 294 | 0.0374 | -12 | c.-31 others(31): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD3_chr19_40343695_40383485 | 40346442 | CAAATAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG04199.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0180a0001c0001t0002g0183 | 4 | 364 | 0.0110 | -12 | c.-26 others(23): Show |
PLD3 | ENSG00000105223.21 | transcript | ENST00000409735.9 | protein_coding | 2252 | chr19 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242143833 | CTTTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0028 | 1 | 188 | 0.0053 | -12 | c.736 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242167078 | GTAATAAT others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0051a0001c0001t0082others(2): Show | a0001c0001t0014g0179a0001c0001t0051g0119a0001c0001t0082g0181others(2): Show | 5 | 188 | 0.0266 | -12 | c.736 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242189445 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0001g0020a0001c0001t0005g0026a0001c0001t0008g0041others(8): Show | 11 | 188 | 0.0585 | -12 | c.735 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242194594 | CTATCTAT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA18945.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0009a0003c0004t0032 | a0001c0002t0009g0177a0003c0004t0032g0055 | 2 | 188 | 0.0106 | -12 | c.735 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242223851 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0132 | 1 | 188 | 0.0053 | -12 | c.608 others(29): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242241869 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0077 | a0001c0001t0001g0070a0001c0002t0077g0160 | 2 | 188 | 0.0106 | -12 | c.608 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242256747 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02135.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0041a0001c0001t0056others(1): Show | a0001c0001t0002g0106a0001c0001t0041g0008a0001c0001t0056g0125others(1): Show | 4 | 188 | 0.0213 | -12 | c.607 others(29): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242256908 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01069.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0085a0001c0001t0001g0099others(24): Show | 27 | 188 | 0.1436 | -12 | c.607 others(29): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242257038 | TTCTATCT others(5): Show |
T | intron_variant | MODIFIER | HG02735.hp1 HG03688.hp1 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0019a0001c0001t0002g0005a0001c0001t0005g0014others(1): Show | 4 | 188 | 0.0213 | -12 | c.607 others(29): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242267189 | AGGAAAAG others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0057a0001c0001t0001g0063a0001c0001t0001g0083others(53): Show | 56 | 188 | 0.2979 | -12 | c.496 others(29): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242271201 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0038a0001c0001t0044others(3): Show | a0001c0001t0008g0038a0001c0001t0038g0045a0001c0001t0044g0042others(3): Show | 6 | 188 | 0.0319 | -12 | c.496 others(29): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242284119 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01168.hp2 HG01175.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0003a0001c0002t0072 | a0001c0001t0027g0023a0001c0002t0003g0158a0001c0002t0003g0159others(1): Show | 4 | 188 | 0.0213 | -12 | c.495 others(29): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242297621 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01891.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0039others(13): Show | 16 | 188 | 0.0851 | -12 | c.327 others(29): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242300451 | GAAGAAAG others(5): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0049a0001c0001t0051 | a0001c0001t0048g0115a0001c0001t0049g0120a0001c0001t0051g0119 | 3 | 188 | 0.0160 | -12 | c.327 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242301765 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01071.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0054a0001c0001t0001g0085a0001c0001t0004g0034others(10): Show | 13 | 188 | 0.0692 | -12 | c.327 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242350434 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0038others(2): Show | a0001c0001t0001g0083a0001c0001t0002g0005a0001c0001t0038g0045others(2): Show | 5 | 188 | 0.0266 | -12 | c.190 others(29): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242393369 | AGTATATA others(5): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0078a0001c0001t0006g0072 | 2 | 188 | 0.0106 | -12 | c.190 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242393393 | AGTATATA others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(8): Show | a0001c0001t0001g0031a0001c0001t0001g0099a0001c0001t0002g0032others(11): Show | 14 | 188 | 0.0745 | -12 | c.190 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242393692 | ATGAGTAT others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0175 | 1 | 188 | 0.0053 | -12 | c.190 others(31): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLEKHA1_chr10_122369708_122437345 | 122376501 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02622.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0196a0002c0002t0001g0197 | 2 | 358 | 0.0056 | -12 | c.-21 others(29): Show |
PLEKHA1 | ENSG00000107679.15 | transcript | ENST00000368990.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLEKHA1_chr10_122369708_122437345 | 122394069 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp1 others(17): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0036a0001c0001t0004g0021a0001c0001t0004g0022others(15): Show | 20 | 358 | 0.0559 | -12 | c.141 others(27): Show |
PLEKHA1 | ENSG00000107679.15 | transcript | ENST00000368990.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLEKHA1_chr10_122369708_122437345 | 122429494 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 358 | 0.0028 | -12 | c.901 others(26): Show |
PLEKHA1 | ENSG00000107679.15 | transcript | ENST00000368990.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLEKHA1_chr10_122369708_122437345 | 122431237 | CAGCTTCC others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01169.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242a0001c0001t0003g0243a0001c0001t0003g0244others(15): Show | 18 | 358 | 0.0503 | -12 | c.*13 others(23): Show |
PLEKHA1 | ENSG00000107679.15 | transcript | ENST00000368990.8 | protein_coding | 12/12 | 1304 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
PLEKHA2_chr8_38896346_38978912 | 38899685 | ATGTGTGT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(51): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0031others(51): Show | 54 | 376 | 0.1436 | -12 | c.-17 others(23): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1660 | chr8 | TogoVar | ||||||
PLEKHA2_chr8_38896346_38978912 | 38907818 | TTATGTAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(43): Show | 46 | 376 | 0.1223 | -12 | c.-24 others(29): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PLEKHA2_chr8_38896346_38978912 | 38969941 | CTGTGTGT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020a0001c0001t0050 | a0001c0001t0019g0124a0001c0001t0019g0143a0001c0001t0020g0012others(2): Show | 5 | 376 | 0.0133 | -12 | c.*18 others(21): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 12/12 | 184 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
PLEKHA3_chr2_178475457_178521463 | 178499287 | TCAAATTA others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0114 | 1 | 382 | 0.0026 | -12 | c.659 others(25): Show |
PLEKHA3 | ENSG00000116095.11 | transcript | ENST00000234453.10 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
PLEKHA3_chr2_178475457_178521463 | 178507658 | GTTTTTTT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02896.hp2 NA19077.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0072a0001c0003t0140a0001c0003t0141 | a0001c0001t0072g0117a0001c0003t0140g0055a0001c0003t0141g0032 | 3 | 382 | 0.0079 | -12 | c.*37 others(23): Show |
PLEKHA3 | ENSG00000116095.11 | transcript | ENST00000234453.10 | protein_coding | 8/8 | 3796 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
PLEKHA3_chr2_178475457_178521463 | 178508050 | GGTGTGTG others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0145 | a0001c0002t0145g0166 | 1 | 382 | 0.0026 | -12 | c.*41 others(23): Show |
PLEKHA3 | ENSG00000116095.11 | transcript | ENST00000234453.10 | protein_coding | 8/8 | 4191 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
PLEKHA4_chr19_48832097_48873617 | 48844119 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00738.hp2 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0117a0001c0001t0001g0122others(17): Show | 22 | 300 | 0.0733 | -12 | c.174 others(31): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 16/19 | chr19 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19128910 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 | 1 | 316 | 0.0032 | -12 | c.-88 others(21): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 822 | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19129441 | GTTTTTTT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01243.hp2 others(30): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0001c0001t0010a0001c0001t0018others(3): Show | a0001c0001t0003g0017a0001c0001t0003g0020a0001c0001t0003g0022others(30): Show | 33 | 316 | 0.1044 | -12 | c.-35 others(21): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 291 | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19196801 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0049 | 1 | 316 | 0.0032 | -12 | c.228 others(31): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19197676 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01943.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0290a0001c0001t0002g0097a0001c0001t0003g0019others(3): Show | 6 | 316 | 0.0190 | -12 | c.228 others(31): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19197722 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0126 | 1 | 316 | 0.0032 | -12 | c.228 others(31): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19211865 | AGCAGGAG others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18522.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0307a0001c0001t0007g0308a0001c0001t0007g0309 | 3 | 316 | 0.0095 | -12 | c.228 others(31): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19302906 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 316 | 0.0032 | -12 | c.203 others(33): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |