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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE1A_chr2_182135041_182432036 | 182385640 | G | GAAAGAAA others(14): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0248 | 1 | 264 | 0.0038 | 21 | c.53+ others(38): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182403598 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 264 | 0.0038 | 21 | c.53+ others(38): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20612686 | A | ATATATAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02055.hp2 others(22): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0013others(7): Show | a0001c0001t0063a0001c0001t0064a0001c0001t0094others(22): Show | a0001c0001t0063g0057 a0001c0001t0064g0040 a0001c0001t0094g0122 others(22): Show |
25 | 198 | 0.1263 | 21 | c.101 others(38): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65924077 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0084 a0001c0001t0001g0115 a0001c0001t0003g0077 others(4): Show |
7 | 118 | 0.0593 | 21 | c.281 others(38): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66090616 | A | ATATGTGT others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0080 a0001c0001t0016g0034 |
2 | 118 | 0.0170 | 21 | c.282 others(42): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
PDE4B_chr1_65787895_66379574 | 66090616 | A | ATGTGTGT others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0073 a0001c0001t0005g0032 |
2 | 118 | 0.0170 | 21 | c.282 others(42): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59079666 | T | TTAATAAT others(14): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0027 | 1 | 74 | 0.0135 | 21 | c.809 others(40): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59181571 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 74 | 0.0135 | 21 | c.759 others(36): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 4/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59649902 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 74 | 0.0135 | 21 | c.455 others(42): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59649904 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0072 a0001c0001t0020g0027 |
2 | 74 | 0.0270 | 21 | c.455 others(42): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59771495 | G | GAAGAAAG others(14): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0059 | 1 | 74 | 0.0135 | 21 | c.455 others(42): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149889081 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0016a0001c0002t0078a0001c0004t0006others(1): Show | a0001c0001t0016g0050 a0001c0002t0078g0269 a0001c0004t0006g0180 others(1): Show |
4 | 328 | 0.0122 | 21 | c.172 others(40): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149906519 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp2 others(22): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0055 a0001c0001t0001g0137 a0001c0001t0001g0139 others(22): Show |
25 | 328 | 0.0762 | 21 | c.106 others(38): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 7/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 328 | 0.0031 | 21 | c.858 others(38): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18973.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0008t0006a0001c0008t0019 | a0001c0001t0005g0009 a0001c0008t0006g0251 a0001c0008t0019g0243 |
3 | 328 | 0.0092 | 21 | c.858 others(38): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03130.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0011a0001c0002t0021a0001c0002t0035others(2): Show | a0001c0001t0011g0106 a0001c0002t0021g0258 a0001c0002t0035g0307 others(2): Show |
5 | 328 | 0.0152 | 21 | c.858 others(38): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATTT others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0107 | 1 | 328 | 0.0031 | 21 | c.858 others(38): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 642725 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0271 | 1 | 308 | 0.0033 | 21 | c.711 others(38): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93654802 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 384 | 0.0026 | 21 | c.193 others(38): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDE6H_chr12_14968042_14986865 | 14982038 | A | ATTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 HG03669.hp2 NA18976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0012 a0001c0002t0002g0024 |
3 | 448 | 0.0067 | 21 | c.*56 others(30): Show |
PDE6H | ENSG00000139053.3 | transcript | ENST00000266395.3 | protein_coding | 174 | chr12 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65798206 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18956.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0058 | a0001c0001t0040g0033 a0001c0001t0058g0070 |
2 | 248 | 0.0081 | 21 | c.139 others(40): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65798206 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 248 | 0.0040 | 21 | c.139 others(40): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65798206 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0008 | 1 | 248 | 0.0040 | 21 | c.139 others(40): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65841963 | G | GGCCGCCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0245 | 1 | 248 | 0.0040 | 21 | c.-47 others(30): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/13 | 456 | chr8 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135906813 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0107 a0001c0001t0002g0007 |
2 | 142 | 0.0141 | 21 | c.22- others(38): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135906827 | T | TTTTTTTG others(14): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 142 | 0.0070 | 21 | c.22- others(38): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85119468 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00741.hp2 others(28): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 others(28): Show |
31 | 344 | 0.0901 | 21 | c.173 others(40): 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(14): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0037 | a0001c0001t0003g0181 a0001c0001t0037g0026 |
2 | 314 | 0.0064 | 21 | c.116 others(40): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42653539 | A | AGGGGGGA others(14): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG03130.hp2 NA21309.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0300 a0001c0001t0004g0306 a0001c0001t0005g0304 others(1): Show |
4 | 324 | 0.0124 | 21 | c.-27 others(30): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 81 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01074.hp2 NA19088.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0139 a0001c0002t0001g0055 |
2 | 324 | 0.0062 | 21 | c.263 others(38): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 324 | 0.0031 | 21 | c.263 others(38): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 324 | 0.0031 | 21 | c.263 others(38): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATTT others(14): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0005 | a0001c0002t0001g0309 a0001c0005t0005g0236 |
2 | 324 | 0.0062 | 21 | c.263 others(38): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42750528 | C | CATTAGAA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0044 others(231): Show |
235 | 324 | 0.7253 | 21 | c.654 others(36): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42767507 | A | ATCCACCA others(14): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03471.hp2 NA19030.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0005 | a0001c0005t0001g0169 a0001c0005t0001g0268 a0001c0005t0005g0236 |
3 | 324 | 0.0093 | 21 | c.135 others(38): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0025 | 1 | 302 | 0.0033 | 21 | c.*39 others(32): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 499720 | T | TCCCCCCC others(14): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0084 | 1 | 302 | 0.0033 | 21 | c.581 others(38): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156851930 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02970.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0029 | a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0003t0029g0177 |
3 | 208 | 0.0144 | 21 | c.119 others(38): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104082137 | C | CATTATAT others(14): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0129 | 1 | 200 | 0.0050 | 21 | c.124 others(40): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119661 | T | TATATTAA others(14): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18957.hp2 NA18985.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0007 a0001c0002t0001g0004 a0001c0002t0001g0005 |
3 | 200 | 0.0150 | 21 | c.124 others(40): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRB_chr5_150108839_150160845 | 150150563 | C | CCTGCACC others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(76): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0007a0001c0001t0011a0001c0001t0012others(16): Show | a0001c0001t0007g0079 a0001c0001t0011g0334 a0001c0001t0011g0341 others(69): Show |
79 | 418 | 0.1890 | 21 | c.-7+ others(36): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17577082 | T | TAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02293.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0002t0001g0230 |
3 | 400 | 0.0075 | 21 | c.-17 others(30): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 133 | chr8 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17590236 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 400 | 0.0025 | 21 | c.353 others(36): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0220 a0001c0001t0001g0227 others(2): Show |
5 | 400 | 0.0125 | 21 | c.940 others(36): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDIA4_chr7_148998062_149033505 | 149025085 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0047 | 1 | 352 | 0.0028 | 21 | c.88+ others(36): Show |
PDIA4 | ENSG00000155660.11 | transcript | ENST00000652332.1 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10812343 | T | TCCGGGAA others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG01433.hp2 others(18): Show |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0011 a0001c0005t0003g0018 a0001c0005t0003g0138 others(15): Show |
21 | 342 | 0.0614 | 21 | c.19+ others(34): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDK1_chr2_172551090_172613669 | 172583281 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0040 | a0001c0001t0016g0205 a0001c0001t0040g0272 |
2 | 342 | 0.0059 | 21 | c.946 others(38): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PDK3_chrX_24460286_24539422 | 24496568 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01975.hp2 HG02155.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0010 a0001c0001t0002g0091 a0001c0001t0002g0092 others(8): Show |
11 | 258 | 0.0426 | 21 | c.248 others(38): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95237809 | C | CAAGCAGA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0169 | 1 | 338 | 0.0030 | 21 | c.*95 others(29): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 7/7 | 115 | chr10 | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95256986 | A | AAAAAGAA others(14): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0161 | 1 | 338 | 0.0030 | 21 | c.533 others(38): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar |