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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFC_chr4_156755454_156976799 | 156824325 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0070 | 1 | 208 | 0.0048 | 24 | c.315 others(43): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156824327 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0092 | 1 | 208 | 0.0048 | 24 | c.315 others(43): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156824327 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0156 | 1 | 208 | 0.0048 | 24 | c.315 others(43): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156900905 | A | AAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 208 | 0.0048 | 24 | c.119 others(43): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103950571 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02129.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0002g0145 a0001c0001t0003g0082 a0001c0001t0009g0192 others(3): Show |
6 | 200 | 0.0300 | 24 | c.511 others(41): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103984813 | T | TATTTATT others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02615.hp1 NA18957.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0042 a0001c0001t0002g0193 a0001c0001t0003g0027 others(1): Show |
4 | 200 | 0.0200 | 24 | c.510 others(43): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103985078 | T | TATTTATT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03130.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0002g0093 a0001c0001t0007g0122 a0001c0001t0007g0186 others(2): Show |
5 | 200 | 0.0250 | 24 | c.510 others(43): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103985094 | T | TATATATT others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG03209.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0085 a0001c0001t0002g0118 a0001c0001t0002g0139 others(15): Show |
18 | 200 | 0.0900 | 24 | c.510 others(43): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104082133 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02717.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0160 a0001c0001t0003g0112 a0001c0001t0003g0123 others(10): Show |
13 | 200 | 0.0650 | 24 | c.124 others(43): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104082137 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03195.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0002g0127 a0001c0002t0001g0156 a0001c0002t0004g0173 others(1): Show |
4 | 200 | 0.0200 | 24 | c.124 others(43): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRB_chr5_150108839_150160845 | 150137944 | A | AAGAGACA others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03041.hp1 |
a0002 | a0002c0017 | a0002c0017t0003 | a0002c0017t0003g0185 a0002c0017t0003g0186 |
2 | 418 | 0.0048 | 24 | c.-6- others(37): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17577082 | T | TAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 a0001c0001t0001g0335 |
2 | 400 | 0.0050 | 24 | c.-17 others(33): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 133 | chr8 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17590236 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG01358.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0138 others(29): Show |
32 | 400 | 0.0800 | 24 | c.353 others(39): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17638776 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03490.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0150 a0001c0010t0001g0183 |
2 | 400 | 0.0050 | 24 | c.940 others(41): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCCCC others(17): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 400 | 0.0025 | 24 | c.940 others(39): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(17): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03491.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0188 a0001c0001t0001g0234 others(1): Show |
4 | 400 | 0.0100 | 24 | c.940 others(39): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641898 | C | CCCGCCCC others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG01891.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 a0001c0001t0001g0313 a0001c0001t0001g0331 others(1): Show |
4 | 400 | 0.0100 | 24 | c.940 others(39): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285909 | C | CCCAACCC others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03579.hp1 |
a0006 | a0006c0013a0006c0014 | a0006c0013t0001a0006c0014t0002 | a0006c0013t0001g0028 a0006c0014t0002g0058 a0006c0014t0002g0059 |
3 | 436 | 0.0069 | 24 | c.111 others(41): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285966 | T | TCCCAACC others(17): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0177 | 1 | 436 | 0.0023 | 24 | c.111 others(41): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 286023 | T | TCCCAACC others(17): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 436 | 0.0023 | 24 | c.111 others(41): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123072912 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0300 a0001c0003t0001g0258 |
2 | 332 | 0.0060 | 24 | c.42+ others(39): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123117374 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01515.hp2 NA18957.hp2 NA18972.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0095 a0001c0001t0001g0301 a0001c0002t0001g0236 others(5): Show |
8 | 332 | 0.0241 | 24 | c.609 others(41): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDK1_chr2_172551090_172613669 | 172593589 | T | TCTTAGTT others(17): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0212 | 1 | 342 | 0.0029 | 24 | c.117 others(41): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PDK3_chrX_24460286_24539422 | 24496568 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 258 | 0.0039 | 24 | c.248 others(41): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95256986 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003a0002c0003t0007 | a0001c0001t0001g0035 a0001c0001t0001g0127 a0001c0001t0001g0153 others(11): Show |
15 | 338 | 0.0444 | 24 | c.533 others(41): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM1_chr10_95232572_95296003 | 95257038 | G | GAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG03195.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0005a0001c0002t0006others(1): Show | a0001c0001t0001g0263 a0001c0001t0005g0199 a0001c0002t0006g0260 others(1): Show |
4 | 338 | 0.0118 | 24 | c.533 others(41): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM1_chr10_95232572_95296003 | 95257038 | G | GAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0248 a0001c0002t0002g0188 |
2 | 338 | 0.0059 | 24 | c.533 others(41): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM3_chr4_185495660_185540507 | 185497978 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0308 | 1 | 412 | 0.0024 | 24 | c.*43 others(35): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 2681 | chr4 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94542307 | C | CAAATAAA others(17): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02129.hp2 HG02602.hp2 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0006a0001c0006t0013 | a0001c0006t0006g0041 a0001c0006t0006g0042 a0001c0006t0006g0043 others(3): Show |
6 | 218 | 0.0275 | 24 | c.248 others(43): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177497008 | G | GGGGAGGG others(17): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207 | 1 | 440 | 0.0023 | 24 | c.-11 others(39): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
PDPK1_chr16_2533021_2608188 | 2533430 | A | ATTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0098 |
2 | 184 | 0.0109 | 24 | c.-46 others(35): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 4590 | chr16 | TogoVar | |||||||
PDPR_chr16_70109332_70167537 | 70122854 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01361.hp2 HG02071.hp2 others(25): Show |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0001a0002c0002t0013a0002c0002t0023others(2): Show | a0002c0002t0001g0003 a0002c0002t0001g0030 a0002c0002t0001g0034 others(22): Show |
28 | 289 | 0.0969 | 24 | c.227 others(41): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39817880 | C | CTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 356 | 0.0028 | 24 | c.*76 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 4982 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39826473 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0322 | 1 | 356 | 0.0028 | 24 | c.401 others(42): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 32/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39842903 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18988.hp1 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0314 a0001c0002t0004g0351 a0001c0002t0004g0355 |
3 | 356 | 0.0084 | 24 | c.354 others(41): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39842907 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 356 | 0.0028 | 24 | c.354 others(41): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39842909 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01243.hp2 HG02071.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0042 others(11): Show |
14 | 356 | 0.0393 | 24 | c.354 others(41): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39923638 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0166 | 1 | 356 | 0.0028 | 24 | c.528 others(39): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 5/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39923638 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03492.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0275 |
3 | 356 | 0.0084 | 24 | c.528 others(39): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 5/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39929519 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02523.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0093 others(1): Show |
4 | 356 | 0.0112 | 24 | c.139 others(41): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32655359 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0019 | a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0158 others(3): Show |
6 | 334 | 0.0180 | 24 | c.313 others(41): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 334 | 0.0030 | 24 | c.313 others(41): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32733985 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0017a0001c0002t0011others(4): Show | a0001c0001t0008g0297 a0001c0001t0008g0308 a0001c0001t0008g0310 others(7): Show |
10 | 334 | 0.0299 | 24 | c.224 others(43): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26693079 | T | TTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0027 others(19): Show |
22 | 416 | 0.0529 | 24 | c.-46 others(35): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | |||||||
PDSS1_chr10_26692701_26751798 | 26693079 | T | TTTTATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 416 | 0.0024 | 24 | c.-46 others(35): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | |||||||
PDSS1_chr10_26692701_26751798 | 26704083 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG01361.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0076 others(11): Show |
14 | 416 | 0.0337 | 24 | c.163 others(39): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107224926 | T | TTGCAGTC others(17): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 260 | 0.0039 | 24 | c.703 others(43): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107225135 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03209.hp2 HG03516.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0153 others(5): Show |
8 | 260 | 0.0308 | 24 | c.703 others(43): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107429901 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 260 | 0.0039 | 24 | c.296 others(43): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDX1_chr13_27915000_27931313 | 27925555 | C | CTCCTCCT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 | 5 | 434 | 0.0115 | 24 | c.*86 others(33): Show |
PDX1 | ENSG00000139515.6 | transcript | ENST00000381033.5 | protein_coding | 2/2 | 863 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |