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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PASD1_chrX_151558675_151681739 | 151562893 | G | GTGGGGGG others(24): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 218 | 0.0046 | 31 | c.-97 others(40): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 781 | chrX | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241120492 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02135.hp1 HG02273.hp1 others(5): Show |
a0004a0005 | a0004c0004a0005c0013a0005c0021 | a0004c0004t0001a0005c0013t0001a0005c0013t0002others(1): Show | a0004c0004t0001g0206 a0004c0004t0001g0207 a0004c0004t0001g0214 others(5): Show |
8 | 343 | 0.0233 | 31 | c.307 others(50): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 62144771 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18983.hp2 NA19060.hp1 |
a0007a0018a0025 | a0007c0050a0018c0118a0025c0115 | a0007c0050t0021a0018c0118t0001a0025c0115t0002 | a0007c0050t0021g0039 a0018c0118t0001g0022 a0025c0115t0002g0008 |
3 | 123 | 0.0244 | 31 | c.527 others(50): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 62144777 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0032 | a0032c0134 | a0032c0134t0003 | a0032c0134t0003g0062 | 1 | 59 | 0.0169 | 31 | c.527 others(50): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79639881 | T | TATTCCTA others(24): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 153 | 0.0065 | 31 | c.517 others(50): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721656 | A | ATATATGT others(24): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0074 | 1 | 278 | 0.0036 | 31 | c.*70 others(42): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3176 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721656 | A | ATATATGT others(24): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01243.hp1 others(59): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(18): Show | a0001c0001t0002g0095 a0001c0001t0003g0004 a0001c0001t0003g0007 others(35): Show |
62 | 339 | 0.1829 | 31 | c.*70 others(42): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3176 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721656 | A | ATATATGT others(24): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02922.hp2 |
a0002a0003 | a0002c0003a0002c0015a0003c0012 | a0002c0003t0026a0002c0015t0026a0003c0012t0045 | a0002c0003t0026g0097 a0002c0015t0026g0098 a0003c0012t0045g0037 |
3 | 280 | 0.0107 | 31 | c.*70 others(42): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3176 | chr20 | TogoVar | |||||||
PAX9_chr14_36656860_36684362 | 36671478 | G | GATATTTT others(24): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02647.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0015a0001c0001t0016others(2): Show | a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0015g0295 others(3): Show |
8 | 444 | 0.0180 | 31 | c.772 others(48): Show |
PAX9 | ENSG00000198807.13 | transcript | ENST00000361487.7 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125793366 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 121 | 0.0083 | 31 | c.274 others(50): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | chr9 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45892449 | A | AGTCCCGT others(24): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01069.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0287 a0001c0001t0002g0035 a0001c0001t0002g0036 others(32): Show |
36 | 290 | 0.1241 | 31 | c.11- others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92105627 | T | TAGGAGTG others(24): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0125 | 1 | 154 | 0.0065 | 31 | c.303 others(52): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTTCTT others(24): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 9 | 0.1111 | 31 | c.285 others(54): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 180 | 0.0056 | 31 | c.284 others(52): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0263 a0001c0001t0008g0265 |
2 | 181 | 0.0110 | 31 | c.284 others(52): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31074784 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18906.hp1 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0045a0001c0010t0002 | a0001c0003t0045g0007 a0001c0010t0002g0106 |
2 | 41 | 0.0488 | 31 | c.339 others(52): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31150365 | A | ATTTTTCT others(24): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0040a0001c0003t0013others(3): Show | a0001c0001t0001g0020 a0001c0001t0040g0117 a0001c0003t0013g0005 others(3): Show |
6 | 91 | 0.0659 | 31 | c.*75 others(42): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 3566 | chr4 | TogoVar | |||||||
PCDHB12_chr5_141203719_141217571 | 141204212 | C | CAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0014 | a0002c0014t0006 | a0002c0014t0006g0000 | 1 | 164 | 0.0061 | 31 | c.-46 others(42): Show |
PCDHB12 | ENSG00000120328.6 | transcript | ENST00000239450.4 | protein_coding | 4506 | chr5 | TogoVar | |||||||
PCED1B_chr12_47074621_47241660 | 47217470 | G | GAAAAAGA others(24): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01106.hp1 HG02080.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0075 a0001c0001t0001g0087 others(7): Show |
10 | 84 | 0.1190 | 31 | c.-58 others(46): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCGF5_chr10_91215663_91289337 | 91238602 | T | TTTCTTTC others(24): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0180 | 1 | 304 | 0.0033 | 31 | c.113 others(48): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999269 | C | CATATTAA others(24): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG02976.hp2 |
a0001a0014 | a0001c0001a0014c0034 | a0001c0001t0005a0014c0034t0005 | a0001c0001t0005g0109 a0001c0001t0005g0125 a0014c0034t0005g0059 |
3 | 186 | 0.0161 | 31 | c.330 others(52): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCMTD2_chr20_64250748_64281226 | 64268150 | C | CCTTTCTG others(24): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG00741.hp2 others(44): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 others(18): Show |
47 | 330 | 0.1424 | 31 | c.706 others(46): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | chr20 | TogoVar | |||||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(24): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 HG03579.hp1 HG03688.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0006a0001c0002t0012a0001c0002t0021others(1): Show | a0001c0002t0006g0290 a0001c0002t0012g0298 a0001c0002t0012g0313 others(2): Show |
5 | 6 | 0.8333 | 31 | c.*94 others(42): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | |||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(24): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 NA18962.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0085 a0001c0001t0004g0090 a0001c0001t0006g0089 |
3 | 203 | 0.0148 | 31 | c.-50 others(42): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | |||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(24): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG04199.hp2 NA18960.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0002c0002t0004 | a0001c0001t0004g0065 a0001c0001t0004g0097 a0001c0001t0006g0077 others(1): Show |
4 | 204 | 0.0196 | 31 | c.-50 others(42): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | |||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(24): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 201 | 0.0050 | 31 | c.-50 others(42): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | |||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 201 | 0.0050 | 31 | c.-50 others(42): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76273596 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0040 | a0040c0064 | a0040c0064t0001 | a0040c0064t0001g0061 | 1 | 163 | 0.0061 | 31 | c.314 others(52): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | chr9 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76351447 | G | GAAAGGAA others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG01258.hp1 others(1): Show |
a0005a0016a0028 | a0005c0002a0016c0025a0028c0088 | a0005c0002t0001a0016c0025t0005a0028c0088t0001 | a0005c0002t0001g0078 a0005c0002t0001g0079 a0016c0025t0005g0033 others(1): Show |
4 | 111 | 0.0360 | 31 | c.506 others(48): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | chr9 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76351447 | G | GAAAGGAA others(24): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0107 | 1 | 108 | 0.0093 | 31 | c.506 others(48): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | chr9 | TogoVar | |||||||
PCYOX1_chr2_70253137_70286185 | 70283096 | C | CAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0006 | 1 | 246 | 0.0041 | 31 | c.*57 others(42): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 1912 | chr2 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAATAT others(24): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 119 | 0.0084 | 31 | c.117 others(48): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAATATAT others(24): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02080.hp2 NA18943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(3): Show |
6 | 124 | 0.0484 | 31 | c.117 others(48): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0051 | a0001c0001t0002g0070 a0001c0001t0051g0015 |
2 | 120 | 0.0167 | 31 | c.117 others(48): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66959935 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 167 | 0.0060 | 31 | c.-18 others(42): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 1553 | chr11 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241861756 | C | CCCAACTC others(24): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 406 | 0.0025 | 31 | c.-29 others(42): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 2863 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177946744 | C | CTCTGCCC others(24): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03486.hp1 NA19010.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0023a0001c0003t0051 | a0001c0001t0002g0079 a0001c0003t0023g0091 a0001c0003t0051g0092 |
3 | 168 | 0.0179 | 31 | c.107 others(52): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDE5A_chr4_119489403_119633804 | 119632100 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 334 | 0.0030 | 31 | c.-34 others(42): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3297 | chr4 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18984.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0265 a0001c0002t0002g0307 |
2 | 70 | 0.0286 | 31 | c.858 others(48): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0263 | 1 | 69 | 0.0145 | 31 | c.858 others(48): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0240 | 1 | 69 | 0.0145 | 31 | c.858 others(48): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0015 | a0002c0015t0046 | a0002c0015t0046g0223 | 1 | 69 | 0.0145 | 31 | c.858 others(48): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0260 | 1 | 69 | 0.0145 | 31 | c.858 others(48): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 642725 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0247 | 1 | 176 | 0.0057 | 31 | c.711 others(48): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 136148499 | A | AGGCAGGC others(24): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 140 | 0.0071 | 31 | c.319 others(46): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
PDE8A_chr15_84976856_85144142 | 85119468 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0146 a0001c0001t0005g0151 |
2 | 66 | 0.0303 | 31 | c.173 others(50): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77397026 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | NA19070.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0252 a0001c0001t0006g0235 |
2 | 67 | 0.0299 | 31 | c.116 others(50): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 81 | 0.0123 | 31 | c.263 others(48): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104118747 | T | TATATATT others(24): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 198 | 0.0051 | 31 | c.124 others(50): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104118753 | G | GTATATAT others(24): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02622.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0021others(3): Show | a0001c0001t0002g0145 a0001c0001t0002g0183 a0001c0001t0003g0146 others(4): Show |
7 | 145 | 0.0483 | 31 | c.124 others(50): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar |