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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLPP4_chr10_120452227_120597065 | 120516513 | CAACAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03139.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0024 | a0001c0001t0001g0085 a0001c0001t0016g0218 a0001c0001t0024g0251 |
3 | 326 | 0.0092 | -9 | c.257 others(26): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLPP4_chr10_120452227_120597065 | 120580115 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00735.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0003a0001c0001t0005a0001c0001t0018others(6): Show | a0001c0001t0003g0206 a0001c0001t0005g0111 a0001c0001t0005g0155 others(18): Show |
21 | 106 | 0.1981 | -9 | c.616 others(26): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101078102 | GAGAAGAA others(2): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02280.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0012 a0001c0001t0002g0200 a0001c0001t0005g0196 |
3 | 134 | 0.0224 | -9 | c.-46 others(28): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101156908 | CTATATGA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 others(57): Show |
60 | 202 | 0.2970 | -9 | c.-45 others(28): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLRG1_chr4_154530005_154555400 | 154533474 | ATGAAGAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02451.hp1 others(24): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0006a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0006g0008 a0001c0001t0006g0036 a0001c0001t0006g0043 others(7): Show |
27 | 428 | 0.0631 | -9 | c.*32 others(20): Show |
PLRG1 | ENSG00000171566.12 | transcript | ENST00000499023.7 | protein_coding | 1530 | chr4 | TogoVar | |||||||
PLS1_chr3_142591393_142718664 | 142696720 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00639.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0002t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(15): Show |
18 | 97 | 0.1856 | -9 | c.125 others(28): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLSCR2_chr3_146428288_146474561 | 146429142 | TGCACATG others(2): Show |
T | downstream_gene_variant | MODIFIER | NA18942.hp2 NA19070.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 a0001c0001t0003g0121 |
3 | 362 | 0.0083 | -9 | c.*44 others(20): Show |
PLSCR2 | ENSG00000163746.13 | transcript | ENST00000696113.1 | protein_coding | 4145 | chr3 | TogoVar | |||||||
PLSCR4_chr3_146187335_146256105 | 146191703 | TTTATATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01891.hp2 HG03041.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0008a0001c0001t0014a0002c0002t0008others(2): Show | a0001c0001t0008g0019 a0001c0001t0014g0263 a0002c0002t0008g0275 others(2): Show |
6 | 365 | 0.0164 | -9 | c.*26 others(20): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 631 | chr3 | TogoVar | |||||||
PLSCR4_chr3_146187335_146256105 | 146191706 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(34): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0001c0001t0023a0001c0001t0030others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0017 others(23): Show |
37 | 349 | 0.1060 | -9 | c.*26 others(20): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 628 | chr3 | TogoVar | |||||||
PLSCR4_chr3_146187335_146256105 | 146191738 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01123.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0072 a0001c0001t0001g0125 a0001c0001t0001g0181 others(13): Show |
17 | 192 | 0.0885 | -9 | c.*26 others(20): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 596 | chr3 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17355225 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02015.hp1 NA18946.hp1 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0009a0001c0011t0001 | a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0197 others(3): Show |
6 | 109 | 0.0550 | -9 | c.132 others(28): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
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 | a0001c0001t0002g0011 a0001c0001t0002g0117 a0001c0001t0002g0128 others(8): Show |
11 | 26 | 0.4231 | -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 |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0022a0001c0001t0043a0004c0011t0054 | a0001c0001t0022g0255 a0001c0001t0022g0257 a0001c0001t0022g0258 others(2): Show |
5 | 318 | 0.0157 | -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 | a0001c0001t0003a0001c0001t0014a0001c0001t0043others(2): Show | a0001c0001t0003g0207 a0001c0001t0003g0245 a0001c0001t0014g0076 others(6): Show |
9 | 63 | 0.1429 | -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 |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0014a0001c0001t0017a0001c0001t0056others(3): Show | a0001c0001t0014g0076 a0001c0001t0017g0095 a0001c0001t0056g0281 others(3): Show |
6 | 318 | 0.0189 | -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 | a0001c0001t0010g0063 a0001c0001t0017g0142 a0001c0001t0031g0003 others(4): Show |
7 | 27 | 0.2593 | -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 | a0001c0001t0003g0161 a0001c0001t0011g0143 a0001c0001t0016g0033 others(11): Show |
14 | 28 | 0.5000 | -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 | a0001c0001t0003g0026 a0001c0001t0003g0123 a0001c0001t0013g0088 others(10): Show |
13 | 32 | 0.4063 | -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 | a0001c0001t0003g0026 a0001c0001t0003g0123 a0001c0001t0003g0161 others(68): Show |
71 | 86 | 0.8256 | -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 | a0001c0001t0003g0071 a0001c0002t0003g0004 a0001c0002t0004g0006 others(4): Show |
7 | 29 | 0.2414 | -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 |
a0001a0004 | a0001c0002a0001c0006a0001c0013others(11): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(22): Show | a0001c0002t0001g0003 a0001c0002t0003g0014 a0001c0002t0003g0055 others(24): Show |
27 | 86 | 0.3140 | -9 | c.-86 others(26): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(26): Show |
29 | 296 | 0.0980 | -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 | a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0044 others(176): Show |
179 | 204 | 0.8775 | -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 | a0001c0001t0001g0143 a0001c0001t0015g0062 a0001c0003t0001g0056 others(18): Show |
21 | 40 | 0.5250 | -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(41): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0070 a0001c0001t0001g0126 a0001c0001t0001g0146 others(41): Show |
44 | 121 | 0.3636 | -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 |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0292 a0001c0001t0002g0024 a0001c0001t0002g0032 others(24): Show |
27 | 135 | 0.2000 | -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 | a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0003t0001g0029 others(7): Show |
12 | 295 | 0.0407 | -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 | a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0013g0027 others(5): Show |
8 | 358 | 0.0223 | -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 | a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 others(16): Show |
21 | 110 | 0.1909 | -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 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 others(7): Show |
36 | 327 | 0.1101 | -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 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(101): Show |
106 | 403 | 0.2630 | -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 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(13): Show |
16 | 406 | 0.0394 | -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 | a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0115 others(22): Show |
26 | 69 | 0.3768 | -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 | a0001c0001t0001g0030 a0001c0001t0002g0033 a0001c0001t0002g0062 |
3 | 201 | 0.0149 | -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 |
a0002a0005a0007others(2): Show | a0002c0002a0002c0012a0005c0007others(3): Show | a0002c0002t0002a0002c0002t0015a0002c0012t0002others(6): Show | a0002c0002t0002g0225 a0002c0002t0015g0218 a0002c0012t0002g0188 others(6): Show |
9 | 80 | 0.1125 | -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 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0013a0001c0008t0007 | a0001c0003t0013g0014 a0001c0003t0013g0363 a0001c0008t0007g0362 |
4 | 58 | 0.0690 | -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 |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0004others(22): Show | a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0003t0003g0323 others(62): Show |
72 | 157 | 0.4586 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(15): Show |
26 | 404 | 0.0644 | -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(116): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0104 a0001c0002t0001g0005 a0001c0002t0001g0006 others(85): Show |
119 | 337 | 0.3531 | -9 | c.783 others(24): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153390958 | ACACACAC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02523.hp1 NA18953.hp1 NA18998.hp1 others(1): Show |
a0001a0017 | a0001c0001a0017c0023 | a0001c0001t0001a0001c0001t0003a0017c0023t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0003g0006 others(1): Show |
4 | 343 | 0.0117 | -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 | a0001c0001t0001g0002 a0001c0001t0002g0007 a0001c0001t0002g0098 others(4): Show |
11 | 344 | 0.0320 | -9 | c.*57 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4501 | chrX | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153391346 | TGCACACC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 NA19043.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0007a0001c0013t0001a0002c0002t0001 | a0001c0001t0007g0067 a0001c0013t0001g0071 a0002c0002t0001g0060 |
3 | 343 | 0.0087 | -9 | c.*55 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4292 | 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 | a0001c0001t0001g0082 a0001c0001t0003g0021 |
3 | 344 | 0.0087 | -9 | c.*53 others(20): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4112 | 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 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(17): Show |
26 | 402 | 0.0647 | -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 | a0001c0001t0001g0040 a0001c0001t0001g0283 a0001c0001t0001g0300 others(6): Show |
9 | 56 | 0.1607 | -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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(39): Show |
48 | 82 | 0.5854 | -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(3): Show |
a0001a0021 | a0001c0001a0001c0002a0021c0054 | a0001c0001t0001a0001c0002t0001a0021c0054t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 others(3): Show |
6 | 172 | 0.0349 | -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 |
a0001a0003a0005others(6): Show | a0001c0001a0001c0002a0001c0035others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(12): Show | a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0006g0002 others(16): Show |
19 | 154 | 0.1234 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0154 a0001c0001t0002g0002 a0001c0001t0002g0007 others(11): Show |
17 | 388 | 0.0438 | -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 | a0001c0001t0001g0013 a0001c0001t0001g0260 |
4 | 388 | 0.0103 | -9 | c.-19 others(20): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 1670 | chr7 | TogoVar |