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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE8A_chr15_84976856_85144142 | 84978085 | A | AGTGTGTG others(19): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0326 | 1 | 344 | 0.0029 | 26 | c.-40 others(37): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 3770 | chr15 | TogoVar | |||||||
PDE8A_chr15_84976856_85144142 | 85119468 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01255.hp1 others(12): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0013 | a0001c0001t0001a0001c0002t0001a0008c0013t0001 | a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0121 others(12): Show |
15 | 344 | 0.0436 | 26 | c.173 others(45): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77378049 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0133 | 1 | 314 | 0.0032 | 26 | c.116 others(47): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
PDE8B_chr5_77205680_77433256 | 77388138 | C | CTTTGGAG others(19): Show |
intron_variant | MODIFIER | NA19080.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 a0001c0001t0002g0281 |
2 | 314 | 0.0064 | 26 | c.116 others(47): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77397026 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0238 | 1 | 314 | 0.0032 | 26 | c.116 others(45): 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(19): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0141 | 1 | 324 | 0.0031 | 26 | c.263 others(43): 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(19): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 324 | 0.0031 | 26 | c.263 others(43): 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(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 324 | 0.0031 | 26 | c.263 others(43): 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(19): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 324 | 0.0031 | 26 | c.263 others(43): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 519896 | T | TCCCCCGC others(19): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0236 | 1 | 302 | 0.0033 | 26 | c.-92 others(35): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 51 | chr7 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156851930 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 208 | 0.0048 | 26 | c.119 others(43): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103925716 | C | CACATATA others(19): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0199 | 1 | 200 | 0.0050 | 26 | c.987 others(43): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103925716 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 200 | 0.0050 | 26 | c.987 others(43): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104082133 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01255.hp1 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0086 others(21): Show |
24 | 200 | 0.1200 | 26 | c.124 others(45): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104082137 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 200 | 0.0050 | 26 | c.124 others(45): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17577082 | T | TAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 400 | 0.0025 | 26 | c.-17 others(35): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 133 | chr8 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17590236 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00733.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0120 others(26): Show |
29 | 400 | 0.0725 | 26 | c.353 others(41): 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(19): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 400 | 0.0025 | 26 | 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 | TCCCCGCC others(19): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 400 | 0.0025 | 26 | 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 | 17641898 | C | CCCGCCCC others(19): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0263 a0002c0003t0001g0293 |
2 | 400 | 0.0050 | 26 | c.940 others(41): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123072912 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03225.hp2 NA18906.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0017others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0256 a0001c0001t0001g0324 a0001c0003t0001g0012 others(2): Show |
5 | 332 | 0.0151 | 26 | c.42+ others(41): 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(19): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02630.hp2 HG03942.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0181 a0001c0001t0001g0212 others(5): Show |
8 | 332 | 0.0241 | 26 | c.609 others(43): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDK1_chr2_172551090_172613669 | 172587664 | G | GTGGGGGC others(19): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0140 a0001c0001t0033g0175 |
2 | 342 | 0.0059 | 26 | c.105 others(45): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PDK3_chrX_24460286_24539422 | 24496568 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02273.hp1 HG03669.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 |
3 | 258 | 0.0116 | 26 | c.248 others(43): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95256986 | A | AAGAAAGA others(19): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0240 | 1 | 338 | 0.0030 | 26 | c.533 others(43): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22598903 | C | CGGGGGCC others(19): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 380 | 0.0026 | 26 | c.*49 others(37): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 4606 | chr8 | TogoVar | |||||||
PDLIM7_chr5_177478394_177502604 | 177497008 | G | GGGGGAGG others(19): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0015 | a0015c0011 | a0015c0011t0001 | a0015c0011t0001g0158 | 1 | 440 | 0.0023 | 26 | c.-11 others(41): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
PDPR_chr16_70109332_70167537 | 70122854 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02027.hp1 NA18966.hp1 others(1): Show |
a0002a0015 | a0002c0002a0015c0009 | a0002c0002t0001a0015c0009t0001 | a0002c0002t0001g0032 a0002c0002t0001g0048 a0002c0002t0001g0051 others(1): Show |
4 | 289 | 0.0138 | 26 | c.227 others(43): 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(19): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0023 a0001c0001t0016g0021 |
2 | 356 | 0.0056 | 26 | c.*76 others(37): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 4982 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39842903 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG03831.hp1 HG04184.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 a0001c0002t0001g0082 a0001c0002t0001g0083 |
3 | 356 | 0.0084 | 26 | c.354 others(43): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39842907 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01168.hp1 HG03098.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0003a0001c0015t0003 | a0001c0001t0001g0102 a0001c0001t0003g0171 a0001c0015t0003g0157 |
3 | 356 | 0.0084 | 26 | c.354 others(43): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39842909 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01943.hp1 HG02040.hp2 others(4): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0046 others(4): Show |
7 | 356 | 0.0197 | 26 | c.354 others(43): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39842909 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0081 |
2 | 356 | 0.0056 | 26 | c.354 others(43): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39842911 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 356 | 0.0028 | 26 | c.354 others(43): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39923638 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 a0001c0001t0002g0268 a0001c0001t0002g0276 |
3 | 356 | 0.0084 | 26 | c.528 others(41): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 5/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39929519 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 356 | 0.0028 | 26 | c.139 others(43): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18973.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0123 a0001c0002t0003g0143 |
2 | 356 | 0.0056 | 26 | c.139 others(43): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0140 a0001c0002t0010g0164 |
2 | 356 | 0.0056 | 26 | c.139 others(43): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32655359 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02698.hp2 HG04184.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0153 a0001c0001t0002g0168 a0001c0001t0002g0184 others(2): Show |
5 | 334 | 0.0150 | 26 | c.313 others(43): 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(19): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0011 | a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 others(1): Show |
4 | 334 | 0.0120 | 26 | c.224 others(45): 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(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0039 others(7): Show |
11 | 416 | 0.0264 | 26 | c.-46 others(37): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | |||||||
PDSS1_chr10_26692701_26751798 | 26704083 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01074.hp2 HG02155.hp2 others(14): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0005a0006c0007t0001 | a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0070 others(13): Show |
17 | 416 | 0.0409 | 26 | c.163 others(41): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107173572 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0149 a0001c0001t0001g0229 a0001c0001t0003g0123 others(2): Show |
5 | 260 | 0.0192 | 26 | c.104 others(47): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107225153 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0260 | 1 | 260 | 0.0039 | 26 | c.703 others(45): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107429901 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0002g0136 |
2 | 260 | 0.0077 | 26 | c.296 others(45): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107429901 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0118 a0001c0001t0002g0074 |
2 | 260 | 0.0077 | 26 | c.296 others(45): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107449576 | T | TAGCATAA others(19): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 260 | 0.0039 | 26 | c.296 others(43): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107458412 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 260 | 0.0039 | 26 | c.296 others(41): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDXDC1_chr16_14970026_15043332 | 14984476 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03654.hp1 HG03688.hp2 others(8): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0019a0002c0007t0001 | a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0046 others(8): Show |
11 | 279 | 0.0394 | 26 | c.21+ others(41): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 216 | 0.0046 | 26 | c.-36 others(47): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |