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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHAC1_chr5_140921299_141017347 | 140946631 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02622.hp2 HG03834.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0002 | a0001c0002t0005g0213 a0001c0003t0002g0194 a0001c0003t0002g0252 |
3 | 280 | 0.0107 | 24 | c.243 others(45): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140946631 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03130.hp2 HG03834.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0007 | a0001c0003t0002g0277 a0001c0003t0007g0229 a0001c0003t0007g0230 |
3 | 280 | 0.0107 | 24 | c.243 others(45): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHB11_chr5_141194627_141208779 | 141204212 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0000 | 1 | 444 | 0.0023 | 24 | c.*20 others(35): Show |
PCDHB11 | ENSG00000197479.7 | transcript | ENST00000354757.5 | protein_coding | 434 | chr5 | TogoVar | |||||||
PCDHB12_chr5_141203719_141217571 | 141204212 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02970.hp1 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0013 | a0002c0002t0006g0000 a0002c0002t0013g0000 |
3 | 432 | 0.0069 | 24 | c.-46 others(35): Show |
PCDHB12 | ENSG00000120328.6 | transcript | ENST00000239450.4 | protein_coding | 4506 | chr5 | TogoVar | |||||||
PCDHB13_chr5_141208919_141223979 | 141221429 | G | GTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG02976.hp2 HG03471.hp2 others(1): Show |
a0003a0008a0010 | a0003c0003a0008c0010a0010c0013 | a0003c0003t0003a0008c0010t0010a0010c0013t0010 | a0003c0003t0003g0000 a0008c0010t0010g0000 a0010c0013t0010g0000 |
4 | 428 | 0.0094 | 24 | c.*49 others(35): Show |
PCDHB13 | ENSG00000187372.11 | transcript | ENST00000341948.6 | protein_coding | 2451 | chr5 | TogoVar | |||||||
PCDHB14_chr5_141218343_141232759 | 141221429 | G | GTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02976.hp2 HG03471.hp1 others(1): Show |
a0001a0006 | a0001c0004a0006c0009 | a0001c0004t0004a0006c0009t0005 | a0001c0004t0004g0000 a0006c0009t0005g0000 |
4 | 448 | 0.0089 | 24 | c.-20 others(35): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1913 | chr5 | TogoVar | |||||||
PCDHGA1_chr5_141325514_141517975 | 141347137 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 268 | 0.0037 | 24 | c.242 others(45): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA1_chr5_141325514_141517975 | 141347137 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(25): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0096 a0001c0001t0001g0212 a0001c0001t0002g0050 others(25): Show |
28 | 268 | 0.1045 | 24 | c.242 others(45): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA1_chr5_141325514_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 268 | 0.0037 | 24 | c.242 others(45): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141347137 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 272 | 0.0037 | 24 | c.242 others(43): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141347137 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0095 others(27): Show |
30 | 272 | 0.1103 | 24 | c.242 others(43): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0029 | 1 | 272 | 0.0037 | 24 | c.242 others(45): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141347137 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 270 | 0.0037 | 24 | c.242 others(41): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141347137 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(27): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0209 a0001c0001t0001g0212 others(27): Show |
30 | 270 | 0.1111 | 24 | c.242 others(41): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 270 | 0.0037 | 24 | c.242 others(45): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA4_chr5_141350021_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0079 | 1 | 274 | 0.0037 | 24 | c.251 others(45): Show |
PCDHGA4 | ENSG00000262576.3 | transcript | ENST00000571252.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA5_chr5_141359162_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 292 | 0.0034 | 24 | c.242 others(45): Show |
PCDHGA5 | ENSG00000253485.3 | transcript | ENST00000518069.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA6_chr5_141368891_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0105 | 1 | 292 | 0.0034 | 24 | c.242 others(43): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA7_chr5_141377742_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 292 | 0.0034 | 24 | c.-30 others(35): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 2852 | chr5 | TogoVar | |||||||
PCDHGB1_chr5_141345099_141517975 | 141347137 | C | CTCTCTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 278 | 0.0036 | 24 | c.-31 others(35): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 2961 | chr5 | TogoVar | |||||||
PCDHGB1_chr5_141345099_141517975 | 141347137 | C | CTCTTTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(28): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0101 a0001c0001t0001g0130 a0001c0001t0001g0139 others(28): Show |
31 | 278 | 0.1115 | 24 | c.-31 others(35): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 2961 | chr5 | TogoVar | |||||||
PCDHGB1_chr5_141345099_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0083 | 1 | 278 | 0.0036 | 24 | c.240 others(45): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB2_chr5_141354994_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 288 | 0.0035 | 24 | c.242 others(45): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB3_chr5_141365242_141517975 | 141379889 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 296 | 0.0034 | 24 | c.241 others(43): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47089461 | C | CATGTATA others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 a0001c0001t0002g0201 |
2 | 322 | 0.0062 | 24 | c.-60 others(43): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47131673 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0074 | 1 | 322 | 0.0031 | 24 | c.-52 others(45): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47217444 | G | GAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01167.hp1 HG01175.hp1 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(37): Show |
40 | 322 | 0.1242 | 24 | c.-58 others(39): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 732302 | T | TCCCTTCC others(17): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02615.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0006g0097 |
3 | 366 | 0.0082 | 24 | c.-10 others(41): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF5_chr10_91215663_91289337 | 91238581 | A | ATTTCTTT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01258.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0007g0197 others(1): Show |
4 | 318 | 0.0126 | 24 | c.113 others(41): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCGF6_chr10_103297796_103356140 | 103302452 | G | GTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 NA20752.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0039 |
2 | 372 | 0.0054 | 24 | c.*14 others(35): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 343 | chr10 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83038017 | A | ATTTATAT others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0020 | a0020c0072 | a0020c0072t0002 | a0020c0072t0002g0023 | 1 | 188 | 0.0053 | 24 | c.330 others(45): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18988.hp1 NA19088.hp2 |
a0001a0023 | a0001c0001a0023c0021 | a0001c0001t0020a0023c0021t0002 | a0001c0001t0020g0134 a0023c0021t0002g0093 a0023c0021t0002g0094 |
3 | 188 | 0.0160 | 24 | c.330 others(45): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83078519 | C | CATTATTA others(17): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02257.hp2 HG02622.hp2 others(10): Show |
a0001a0002a0007others(3): Show | a0001c0016a0001c0017a0001c0059others(6): Show | a0001c0016t0010a0001c0016t0011a0001c0017t0006others(9): Show | a0001c0016t0010g0143 a0001c0016t0011g0057 a0001c0017t0006g0130 others(10): Show |
13 | 188 | 0.0692 | 24 | c.330 others(45): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83093472 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0087 | a0002c0087t0002 | a0002c0087t0002g0176 | 1 | 188 | 0.0053 | 24 | c.330 others(45): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83093492 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0159 | 1 | 188 | 0.0053 | 24 | c.330 others(45): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83093492 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0088 | 1 | 188 | 0.0053 | 24 | c.330 others(45): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83103007 | A | AGGAATTT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(89): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0003a0001c0004others(54): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(67): Show | a0001c0001t0002g0107 a0001c0001t0002g0140 a0001c0001t0004g0091 others(89): Show |
92 | 188 | 0.4894 | 24 | c.330 others(45): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83134242 | T | TATATATA others(17): Show |
splice_region_variant others(1): Show |
LOW | HG01255.hp1 HG02165.hp1 HG02165.hp2 others(4): Show |
a0002a0011 | a0002c0005a0002c0011a0002c0089others(2): Show | a0002c0005t0001a0002c0011t0001a0002c0089t0001others(2): Show | a0002c0005t0001g0168 a0002c0005t0001g0170 a0002c0005t0001g0174 others(4): Show |
7 | 188 | 0.0372 | 24 | c.330 others(37): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCMT1_chr6_149744741_149816419 | 149758208 | C | CTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 334 | 0.0030 | 24 | c.55+ others(39): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762947 | C | CTATGATA others(17): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 334 | 0.0030 | 24 | c.56- others(39): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762956 | G | GTATATCT others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01099.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0056 a0002c0002t0002g0061 a0002c0002t0002g0062 others(7): Show |
10 | 334 | 0.0299 | 24 | c.56- others(39): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCMTD2_chr20_64250748_64281226 | 64255723 | A | AGGCGGCG others(17): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 a0001c0001t0005g0077 |
3 | 332 | 0.0090 | 24 | c.-17 others(33): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 24 | chr20 | TogoVar | |||||||
PCNP_chr3_101569180_101599465 | 101573112 | A | AACACACA others(17): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 424 | 0.0024 | 24 | c.-11 others(35): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 1067 | chr3 | TogoVar | |||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0146 | 1 | 424 | 0.0024 | 24 | c.354 others(41): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101595787 | C | CTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 424 | 0.0024 | 24 | c.*30 others(35): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 1323 | chr3 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46359480 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0262 | 1 | 332 | 0.0030 | 24 | c.215 others(43): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910049 | T | TCCTCCTC others(17): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0128 | 1 | 352 | 0.0028 | 24 | c.153 others(41): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910139 | C | CCCTCCCC others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18949.hp2 NA18983.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0148 a0001c0001t0001g0169 a0001c0001t0001g0170 others(6): Show |
9 | 352 | 0.0256 | 24 | c.153 others(41): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910139 | C | CCCTCCTC others(17): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0065 | 1 | 352 | 0.0028 | 24 | c.153 others(41): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910171 | C | CTCCTCCT others(17): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0121 | 1 | 352 | 0.0028 | 24 | c.153 others(41): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |