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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLVAP_chr19_17346455_17382342 | 17381457 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02293.hp1 HG02698.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0002 | a0001c0001t0002g0010a0001c0001t0002g0118a0001c0001t0002g0130others(8): Show | 11 | 436 | 0.0252 | -9 | c.-41 others(20): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4116 | chr19 | TogoVar | ||||||
PLXDC1_chr17_39058313_39156637 | 39059467 | ACCAGCCT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03453.hp1 HG03486.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0022a0001c0001t0042a0007c0012t0053 | a0001c0001t0022g0256a0001c0001t0022g0258a0001c0001t0022g0259others(2): Show | 5 | 320 | 0.0156 | -9 | c.*83 others(20): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 3845 | chr17 | TogoVar | ||||||
PLXDC1_chr17_39058313_39156637 | 39098205 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0042others(2): Show | a0001c0001t0003g0208a0001c0001t0003g0246a0001c0001t0014g0075others(6): Show | 9 | 320 | 0.0281 | -9 | c.811 others(26): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 7/13 | chr17 | TogoVar | ||||||
PLXDC1_chr17_39058313_39156637 | 39121321 | CTAAAATG others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0012 | a0001c0001t0014a0001c0001t0017a0001c0001t0055others(3): Show | a0001c0001t0014g0075a0001c0001t0017g0094a0001c0001t0055g0282others(3): Show | 6 | 320 | 0.0188 | -9 | c.256 others(28): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 19852425 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0017a0001c0001t0031others(4): Show | a0001c0001t0010g0063a0001c0001t0017g0144a0001c0001t0031g0004others(4): Show | 7 | 180 | 0.0389 | -9 | c.112 others(28): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXDC2_chr10_19811432_20294856 | 19883884 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01123.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0016others(10): Show | a0001c0001t0003g0163a0001c0001t0011g0145a0001c0001t0016g0033others(11): Show | 14 | 180 | 0.0778 | -9 | c.112 others(28): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXDC2_chr10_19811432_20294856 | 19988776 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01168.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0013a0001c0001t0016others(7): Show | a0001c0001t0003g0027a0001c0001t0003g0123a0001c0001t0013g0088others(10): Show | 13 | 180 | 0.0722 | -9 | c.113 others(28): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXDC2_chr10_19811432_20294856 | 20158501 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00639.hp2 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(57): Show | a0001c0001t0003g0027a0001c0001t0003g0123a0001c0001t0003g0163others(68): Show | 71 | 180 | 0.3944 | -9 | c.784 others(26): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA4_chr7_132118340_132581470 | 132246768 | AATCATCA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01255.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0001t0003g0072a0001c0002t0003g0004a0001c0002t0004g0006others(4): Show | 7 | 88 | 0.0796 | -9 | c.150 others(28): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 4/31 | chr7 | TogoVar | ||||||
PLXNA4_chr7_132118340_132581470 | 132511032 | AGGAGAGT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01257.hp1 others(24): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0013others(11): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(22): Show | a0001c0002t0001g0003a0001c0002t0003g0014a0001c0002t0003g0064others(24): Show | 27 | 88 | 0.3068 | -9 | c.-86 others(26): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | ||||||
PLXNB3_chrX_153759249_153784341 | 153781115 | ACAGCGGC others(2): Show |
A | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060 | 1 | 308 | 0.0033 | -9 | c.*20 others(20): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 1775 | chrX | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94148355 | TGGCGGCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01243.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0001others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(26): Show | 29 | 298 | 0.0973 | -9 | c.-61 others(18): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 221 | chr12 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94166524 | GTATTATT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(176): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0038others(176): Show | 179 | 298 | 0.6007 | -9 | c.106 others(28): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLXNC1_chr12_94143577_94312675 | 94201748 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01257.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0015a0001c0003t0001others(12): Show | a0001c0001t0001g0151a0001c0001t0015g0064a0001c0003t0001g0058others(18): Show | 21 | 298 | 0.0705 | -9 | c.144 others(28): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLXNC1_chr12_94143577_94312675 | 94212273 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00642.hp2 others(42): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0078a0001c0001t0001g0134a0001c0001t0001g0154others(42): Show | 45 | 298 | 0.1510 | -9 | c.155 others(28): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLXNC1_chr12_94143577_94312675 | 94286616 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(24): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0293a0001c0001t0002g0029a0001c0001t0002g0037others(24): Show | 27 | 298 | 0.0906 | -9 | c.387 others(28): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 23/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PMEL_chr12_55949105_55971042 | 55970288 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02630.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0206a0001c0001t0001g0213a0001c0003t0001g0029others(7): Show | 12 | 396 | 0.0303 | -9 | c.-42 others(20): Show |
PMEL | ENSG00000185664.15 | transcript | ENST00000548747.6 | protein_coding | 4247 | chr12 | TogoVar | ||||||
PMEPA1_chr20_57643396_57715015 | 57709810 | GGCGTCGG others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02683.hp1 HG02970.hp1 HG03927.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0013a0001c0001t0027a0001c0001t0029others(3): Show | a0001c0001t0013g0021a0001c0001t0013g0022a0001c0001t0013g0027others(5): Show | 8 | 360 | 0.0222 | -9 | c.-23 others(18): Show |
PMEPA1 | ENSG00000124225.16 | transcript | ENST00000341744.8 | protein_coding | 1/4 | 229 | chr20 | TogoVar | |||||
PML_chr15_73989716_74052827 | 74010185 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02451.hp2 HG02559.hp1 others(18): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0159a0001c0001t0001g0161a0001c0001t0001g0162others(16): Show | 21 | 342 | 0.0614 | -9 | c.602 others(28): Show |
PML | ENSG00000140464.20 | transcript | ENST00000268058.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PMM1_chr22_41571900_41594840 | 41590601 | AAAAGGAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00609.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0011others(7): Show | 36 | 330 | 0.1091 | -9 | c.-80 others(18): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 762 | chr22 | TogoVar | ||||||
PMM2_chr16_8792839_8854325 | 8827882 | AATATATG others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0109others(101): Show | 106 | 408 | 0.2598 | -9 | c.639 others(28): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PMM2_chr16_8792839_8854325 | 8849752 | GGCCCCTC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02257.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0006g0024a0001c0001t0006g0025a0001c0001t0006g0026others(13): Show | 16 | 408 | 0.0392 | -9 | c.*19 others(20): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 428 | chr16 | TogoVar | ||||||
PMS1_chr2_189779450_189882629 | 189860800 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0117others(22): Show | 26 | 234 | 0.1111 | -9 | c.185 others(28): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PMS1_chr2_189779450_189882629 | 189864688 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | NA18962.hp1 NA18988.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0002g0029a0001c0001t0002g0058 | 3 | 234 | 0.0128 | -9 | c.234 others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 5969147 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG03516.hp2 NA18954.hp2 others(6): Show |
a0001a0006a0008others(2): Show | a0001c0002a0001c0012a0006c0007others(3): Show | a0001c0002t0002a0001c0002t0015a0001c0012t0002others(6): Show | a0001c0002t0002g0227a0001c0002t0015g0220a0001c0012t0002g0190others(6): Show | 9 | 408 | 0.0221 | -9 | c.*42 others(20): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 1777 | chr7 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6007087 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02922.hp1 others(1): Show |
a0003 | a0003c0004a0003c0008 | a0003c0004t0013a0003c0008t0007 | a0003c0004t0013g0014a0003c0004t0013g0365a0003c0008t0007g0364 | 4 | 408 | 0.0098 | -9 | c.24- others(24): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6013255 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00621.hp2 others(69): Show |
a0001a0002a0003others(8): Show | a0001c0003a0002c0001a0003c0004others(10): Show | a0001c0003t0038a0001c0003t0039a0002c0001t0001others(22): Show | a0001c0003t0038g0278a0001c0003t0039g0277a0002c0001t0001g0326others(62): Show | 72 | 408 | 0.1765 | -9 | c.-42 others(20): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 4207 | chr7 | TogoVar | ||||||
PNISR_chr6_99393050_99430308 | 99419182 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG01106.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0021others(15): Show | 26 | 406 | 0.0640 | -9 | c.-11 others(28): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
PNLDC1_chr6_159795276_159825704 | 159809451 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(117): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0104a0001c0002t0001g0004a0001c0002t0001g0006others(85): Show | 120 | 400 | 0.3000 | -9 | c.783 others(24): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PNMA5_chrX_152983824_152999116 | 152998530 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 286 | 0.0035 | -9 | c.-48 others(20): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4415 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153390763 | ACACACCA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0021 | a0021c0018 | a0021c0018t0001 | a0021c0018t0001g0064 | 1 | 346 | 0.0029 | -9 | c.*61 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4875 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153390911 | CGCACACC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02886.hp2 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0026 | 2 | 346 | 0.0058 | -9 | c.*59 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4727 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153390958 | ACACACAC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02523.hp1 NA18953.hp1 NA18998.hp1 others(1): Show |
a0001a0013 | a0001c0001a0013c0024 | a0001c0001t0001a0001c0001t0003a0013c0024t0003 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0003g0010others(1): Show | 4 | 346 | 0.0116 | -9 | c.*59 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4680 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391137 | ACACACCA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG02129.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0002g0007a0001c0001t0002g0104others(4): Show | 11 | 346 | 0.0318 | -9 | c.*57 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4501 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391155 | GCACACAC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0006 | a0006c0028 | a0006c0028t0001 | a0006c0028t0001g0082 | 1 | 346 | 0.0029 | -9 | c.*57 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4483 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391238 | CACACACC others(2): Show |
C | downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 346 | 0.0029 | -9 | c.*56 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4400 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391346 | TGCACACC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 NA19043.hp1 NA20300.hp1 |
a0001a0002a0019 | a0001c0001a0002c0002a0019c0031 | a0001c0001t0007a0002c0002t0001a0019c0031t0001 | a0001c0001t0007g0068a0002c0002t0001g0060a0019c0031t0001g0074 | 3 | 346 | 0.0087 | -9 | c.*55 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4292 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391478 | GCACACCA others(2): Show |
G | downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 346 | 0.0029 | -9 | c.*54 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4160 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391526 | CACACACC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0085a0001c0001t0003g0018 | 3 | 346 | 0.0087 | -9 | c.*53 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4112 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391527 | ACACACCA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0008 | a0008c0010 | a0008c0010t0006 | a0008c0010t0006g0032 | 2 | 346 | 0.0058 | -9 | c.*53 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4111 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391874 | GCACACAC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02015.hp1 HG02280.hp2 |
a0001a0025 | a0001c0001a0025c0032 | a0001c0001t0007a0025c0032t0002 | a0001c0001t0007g0068a0025c0032t0002g0114 | 2 | 346 | 0.0058 | -9 | c.*50 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 3764 | chrX | TogoVar | ||||||
PNMA6F_chrX_153312680_153326767 | 153326035 | GGATTGTC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 | 1 | 331 | 0.0030 | -9 | c.-45 others(20): Show |
PNMA6F | ENSG00000225110.3 | transcript | ENST00000436629.3 | protein_coding | 4269 | chrX | TogoVar | ||||||
PNMA6F_chrX_153312680_153326767 | 153326049 | ATTCATAC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 | 1 | 331 | 0.0030 | -9 | c.-45 others(20): Show |
PNMA6F | ENSG00000225110.3 | transcript | ENST00000436629.3 | protein_coding | 4283 | chrX | TogoVar | ||||||
PNOC_chr8_28312268_28348351 | 28320088 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01261.hp1 HG01884.hp2 others(23): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0029a0001c0001t0001g0030others(18): Show | 26 | 424 | 0.0613 | -9 | c.-24 others(26): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PNPLA6_chr19_7530717_7566764 | 7547811 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02300.hp2 HG02451.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0019a0004c0008 | a0001c0001t0001a0001c0019t0001a0004c0008t0001 | a0001c0001t0001g0038a0001c0001t0001g0198a0001c0001t0001g0226others(6): Show | 9 | 416 | 0.0216 | -9 | c.160 others(28): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PNPLA6_chr19_7530717_7566764 | 7563453 | CTATTATT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01070.hp1 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(39): Show | 48 | 416 | 0.1154 | -9 | c.*18 others(20): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 1690 | chr19 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137551669 | CGCCCCGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01517.hp1 HG02145.hp2 others(4): Show |
a0001a0020 | a0001c0001a0001c0002a0020c0055 | a0001c0001t0001a0001c0002t0001a0020c0055t0001 | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0108others(4): Show | 7 | 188 | 0.0372 | -9 | c.-14 others(20): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1268 | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137551683 | CGCCCCGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02258.hp1 others(16): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0037others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(13): Show | a0001c0001t0001g0141a0001c0001t0001g0157a0001c0001t0007g0002others(16): Show | 19 | 188 | 0.1011 | -9 | c.-14 others(20): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1282 | chr9 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108470385 | AAAAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01167.hp2 HG01256.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0160a0001c0001t0002g0004a0001c0001t0002g0006others(13): Show | 17 | 390 | 0.0436 | -9 | c.*20 others(20): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 31 | chr7 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108527804 | GGACTCAG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0281 | 4 | 390 | 0.0103 | -9 | c.-19 others(20): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 1670 | chr7 | TogoVar |