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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PEPD_chr19_33381950_33526791 | 33458551 | GGGTGTGT others(22): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0044others(124): Show | 130 | 314 | 0.4140 | -29 | c.671 others(46): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977246 | ACCACCCC others(22): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01123.hp1 others(46): Show |
a0001 | a0001c0001a0001c0020a0001c0042 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0151a0001c0001t0002g0008a0001c0001t0002g0105others(14): Show | 49 | 408 | 0.1201 | -29 | c.215 others(46): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977699 | GCAACCCC others(22): Show |
G | intron_variant | MODIFIER | NA18962.hp2 | a0003 | a0003c0016 | a0003c0016t0004 | a0003c0016t0004g0075 | 1 | 408 | 0.0025 | -29 | c.215 others(48): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977710 | AACCGCCT others(22): Show |
A | intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0061 | 1 | 408 | 0.0025 | -29 | c.215 others(48): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977973 | GGGAACCG others(22): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp2 others(34): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0020a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0041a0001c0001t0001g0179a0001c0001t0001g0182others(21): Show | 37 | 408 | 0.0907 | -29 | c.214 others(46): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577544 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 258 | 0.0039 | -29 | c.170 others(48): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 258 | 0.0039 | -29 | c.170 others(48): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 258 | 0.0039 | -29 | c.170 others(48): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577552 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 258 | 0.0039 | -29 | c.170 others(48): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PF4V1_chr4_73848296_73859483 | 73855079 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 448 | 0.0045 | -29 | c.*95 others(38): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 597 | chr4 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855081 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 448 | 0.0022 | -29 | c.*96 others(38): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 599 | chr4 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59720926 | GTGGGTGT others(22): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01081.hp1 others(32): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0050others(32): Show | 35 | 250 | 0.1400 | -29 | c.119 others(48): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHYKPL_chr5_178203471_178237802 | 178232822 | CGGGCCTC others(22): Show |
C | upstream_gene_variant | MODIFIER | HG02523.hp2 NA18950.hp1 NA18973.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0006 | a0001c0001t0001g0104a0001c0001t0001g0134a0001c0001t0001g0135others(1): Show | 4 | 440 | 0.0091 | -29 | c.-30 others(38): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 21 | chr5 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678883 | GTGTGTGT others(22): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0320 | 1 | 350 | 0.0029 | -29 | c.*51 others(40): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2450 | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678910 | TGTGTGTG others(22): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG03927.hp1 NA18948.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0016 | a0001c0001t0002g0200a0001c0001t0002g0263a0001c0001t0002g0270others(2): Show | 5 | 350 | 0.0143 | -29 | c.*51 others(40): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2477 | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678912 | TGTGTGTG others(22): Show |
T | downstream_gene_variant | MODIFIER | HG01978.hp2 HG04115.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0243a0001c0001t0002g0311a0001c0002t0002g0078 | 3 | 350 | 0.0086 | -29 | c.*51 others(40): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2479 | chr10 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46803044 | CAAAAAAA others(22): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 HG06807.hp2 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0108a0001c0001t0123 | a0001c0001t0012g0003a0001c0001t0012g0004a0001c0001t0108g0295others(1): Show | 4 | 322 | 0.0124 | -29 | c.*93 others(40): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 173 | chr18 | TogoVar | ||||||
PICK1_chr22_38052404_38080701 | 38065015 | CCCCAGCA others(22): Show |
C | frameshift_variant | HIGH | NA19057.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0078 | 1 | 428 | 0.0023 | -29 | c.169 others(36): Show |
p.Pro others(4): Show |
PICK1 | ENSG00000100151.16 | transcript | ENST00000356976.8 | protein_coding | 4/13 | 410/2058 | 169/1248 | 57/415 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
PID1_chr2_229018973_229276287 | 229183886 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 256 | 0.0039 | -29 | c.31- others(46): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10795314 | ATATTTTA others(22): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG03041.hp2 NA20805.hp2 |
a0002a0003 | a0002c0001a0002c0023a0003c0063 | a0002c0001t0001a0002c0023t0002a0003c0063t0001 | a0002c0001t0001g0123a0002c0023t0002g0103a0003c0063t0001g0030 | 3 | 158 | 0.0190 | -29 | c.152 others(46): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 12/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10944488 | CATATATA others(22): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03486.hp1 |
a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0075a0009c0010t0002g0154 | 2 | 158 | 0.0127 | -29 | c.287 others(48): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 3/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 11025582 | ACCCAGCT others(22): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03225.hp1 HG03579.hp2 others(1): Show |
a0001a0002a0009 | a0001c0003a0001c0006a0002c0015others(1): Show | a0001c0003t0002a0001c0006t0001a0002c0015t0002others(1): Show | a0001c0003t0002g0029a0001c0006t0001g0148a0002c0015t0002g0145others(1): Show | 4 | 158 | 0.0253 | -29 | c.160 others(48): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 2/55 | chr18 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631754 | TATATATA others(22): Show |
T | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 320 | 0.0031 | -29 | c.529 others(46): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631775 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0081a0001c0001t0001g0096 | 3 | 320 | 0.0094 | -29 | c.529 others(46): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGX_chr3_196707377_196741007 | 196732234 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03540.hp2 NA18974.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0016 | a0001c0001t0010g0218a0001c0001t0011g0225a0001c0001t0016g0062others(1): Show | 4 | 416 | 0.0096 | -29 | c.633 others(46): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIGX_chr3_196707377_196741007 | 196732237 | TATATATA others(22): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01261.hp2 HG02683.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0001c0001t0010a0001c0001t0013others(6): Show | a0001c0001t0006g0039a0001c0001t0010g0144a0001c0001t0013g0039others(9): Show | 12 | 416 | 0.0289 | -29 | c.633 others(46): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
PIGX_chr3_196707377_196741007 | 196732238 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01891.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0006g0001a0001c0001t0006g0162a0001c0001t0006g0202others(14): Show | 22 | 416 | 0.0529 | -29 | c.633 others(46): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIGX_chr3_196707377_196741007 | 196732240 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02071.hp2 HG02074.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0005g0040a0001c0001t0006g0165a0001c0001t0006g0210others(9): Show | 12 | 416 | 0.0289 | -29 | c.633 others(46): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIK3CB_chr3_138647698_138839928 | 138693937 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(2): Show | a0001c0001t0001g0160a0001c0001t0001g0178a0001c0001t0001g0183others(11): Show | 14 | 206 | 0.0680 | -29 | c.189 others(46): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8827742 | GGAGAGAG others(22): Show |
G | intron_variant | MODIFIER | HG02257.hp1 NA18906.hp1 |
a0001a0012 | a0001c0001a0012c0018 | a0001c0001t0001a0012c0018t0001 | a0001c0001t0001g0132a0012c0018t0001g0053 | 2 | 354 | 0.0057 | -29 | c.139 others(46): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 12/19 | chr17 | TogoVar | ||||||
PIMREG_chr17_6439455_6456469 | 6456122 | CAAGCAAT others(22): Show |
C | downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -29 | c.*57 others(40): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4654 | chr17 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353416 | CATCTATA others(22): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(98): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0003a0001c0001t0003g0007a0001c0001t0003g0008others(98): Show | 101 | 346 | 0.2919 | -29 | c.176 others(48): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353960 | TGATATCT others(22): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257a0001c0001t0001g0275a0001c0001t0001g0338 | 3 | 346 | 0.0087 | -29 | c.176 others(48): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71964309 | CTTTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0030 | a0030c0063 | a0030c0063t0003 | a0030c0063t0003g0293 | 1 | 308 | 0.0033 | -29 | c.246 others(46): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/29 | chr16 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100315005 | AGGAAGGA others(22): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 306 | 0.0033 | -29 | c.349 others(48): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100321733 | AAGAAAGA others(22): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0156 | 2 | 306 | 0.0065 | -29 | c.349 others(46): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398054 | GCGTCACC others(22): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0085 | 2 | 216 | 0.0093 | -29 | c.106 others(46): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398294 | CTACCCCC others(22): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 216 | 0.0046 | -29 | c.106 others(46): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398301 | CGCACACA others(22): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0195 | 1 | 216 | 0.0046 | -29 | c.106 others(46): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398381 | CTACCCCC others(22): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0017 | a0017c0025 | a0017c0025t0001 | a0017c0025t0001g0203 | 1 | 216 | 0.0046 | -29 | c.106 others(46): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398410 | GTACCCCC others(22): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp1 HG02897.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004a0001c0007 | a0001c0003t0001a0001c0004t0001a0001c0007t0001 | a0001c0003t0001g0165a0001c0003t0001g0166a0001c0004t0001g0069others(5): Show | 8 | 216 | 0.0370 | -29 | c.106 others(46): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398468 | GTACCCCC others(22): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG03540.hp1 |
a0001a0002 | a0001c0004a0002c0013 | a0001c0004t0001a0002c0013t0001 | a0001c0004t0001g0200a0002c0013t0001g0111 | 2 | 216 | 0.0093 | -29 | c.106 others(46): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398555 | GTACCCCC others(22): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG02897.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0003a0001c0007t0001g0213 | 2 | 216 | 0.0093 | -29 | c.106 others(46): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398671 | CTACCCCC others(22): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 NA21309.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0180a0001c0004t0001g0200a0001c0004t0001g0201 | 3 | 216 | 0.0139 | -29 | c.106 others(46): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 401292 | CCCGCTCA others(22): Show |
C | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp2 NA18906.hp1 others(2): Show |
a0001a0003 | a0001c0004a0001c0008a0003c0014 | a0001c0004t0001a0001c0008t0001a0003c0014t0001 | a0001c0004t0001g0008a0001c0004t0001g0194a0001c0008t0001g0195others(2): Show | 5 | 216 | 0.0232 | -29 | c.173 others(46): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLA2G4A_chr1_186823949_186993981 | 186914389 | CAGACAAA others(22): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(204): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(202): Show | 207 | 310 | 0.6677 | -29 | c.558 others(46): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLA2G7_chr6_46699201_46740375 | 46734454 | GAGAGAGA others(22): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 392 | 0.0026 | -29 | c.-35 others(44): Show |
PLA2G7 | ENSG00000146070.17 | transcript | ENST00000274793.12 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
PLAAT5_chr11_63456404_63496167 | 63483783 | AAATATAT others(22): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0118 | 1 | 358 | 0.0028 | -29 | c.345 others(46): Show |
PLAAT5 | ENSG00000168004.10 | transcript | ENST00000540857.6 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
PLAC1_chrX_134560838_134663471 | 134603285 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 252 | 0.0040 | -29 | c.-13 others(48): Show |
PLAC1 | ENSG00000170965.10 | transcript | ENST00000359237.9 | protein_coding | 1/2 | chrX | TogoVar | ||||||
PLAT_chr8_42169718_42212565 | 42179796 | AGACGGGA others(22): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307a0001c0002t0001g0308a0001c0002t0001g0309others(3): Show | 6 | 378 | 0.0159 | -29 | c.136 others(46): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 12/13 | chr8 | TogoVar |