| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDGFRL_chr8_17572216_17648144 | 17638776 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18989.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0394a0001c0015t0001g0039 | 2 | 400 | 0.0050 | 18 | c.940 others(35): 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(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(86): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0032a0001c0001t0001g0037others(86): Show | 89 | 400 | 0.2225 | 18 | c.940 others(33): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PDHA1_chrX_19338927_19366718 | 19339563 | A | ATGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG02280.hp1 HG02293.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(1): Show | a0001c0002t0002g0006a0001c0002t0002g0016a0001c0002t0004g0068others(4): Show | 11 | 247 | 0.0445 | 18 | c.-44 others(29): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 4363 | chrX | TogoVar | ||||||
| PDHA1_chrX_19338927_19366718 | 19344654 | G | GAAATGTT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(243): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 246 | 247 | 0.9960 | 18 | c.57+ others(31): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PDIA2_chr16_278164_292215 | 282903 | T | TCCCCTGC others(11): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 18 | c.-26 others(27): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 260 | chr16 | TogoVar | ||||||
| PDIA5_chr3_123062025_123167104 | 123072912 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00733.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0290a0001c0001t0001g0291a0001c0001t0001g0295others(14): Show | 17 | 332 | 0.0512 | 18 | c.42+ others(33): 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(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0115a0001c0001t0001g0185a0001c0001t0001g0197others(16): Show | 19 | 332 | 0.0572 | 18 | c.609 others(35): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PDK1_chr2_172551090_172613669 | 172557610 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0207 | 1 | 342 | 0.0029 | 18 | c.197 others(35): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PDK1_chr2_172551090_172613669 | 172583281 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0041 | a0001c0001t0016g0265a0001c0001t0016g0267a0001c0001t0041g0263others(1): Show | 4 | 342 | 0.0117 | 18 | c.946 others(35): 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(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01346.hp2 HG02148.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0060a0001c0001t0002g0064a0001c0001t0002g0066others(13): Show | 16 | 258 | 0.0620 | 18 | c.248 others(35): 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(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02145.hp2 HG02293.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0003 | a0001c0001t0001g0272a0001c0001t0004g0218a0002c0003t0003g0266 | 3 | 338 | 0.0089 | 18 | c.533 others(35): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
| PDLIM2_chr8_22575475_22599298 | 22575902 | T | TTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG02027.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0145 | 3 | 380 | 0.0079 | 18 | c.-47 others(29): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 4572 | chr8 | TogoVar | ||||||
| PDLIM2_chr8_22575475_22599298 | 22592077 | C | CTTTTCTT others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02886.hp1 HG03486.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0002t0002a0002c0004t0002 | a0001c0001t0002g0250a0001c0002t0002g0249a0002c0004t0002g0240 | 3 | 380 | 0.0079 | 18 | c.881 others(33): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PDLIM4_chr5_132252696_132278454 | 132259137 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0102 | 1 | 410 | 0.0024 | 18 | c.93+ others(33): Show |
PDLIM4 | ENSG00000131435.13 | transcript | ENST00000253754.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDLIM5_chr4_94446942_94673223 | 94530510 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18959.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0006 | a0001c0002t0002g0091a0001c0006t0006g0042 | 2 | 218 | 0.0092 | 18 | c.248 others(35): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PDLIM7_chr5_177478394_177502604 | 177497008 | G | GGGAGGGG others(11): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 | 1 | 440 | 0.0023 | 18 | c.-11 others(33): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
| PDPK1_chr16_2533021_2608188 | 2533430 | A | ATTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01081.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(3): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(10): Show | 13 | 184 | 0.0707 | 18 | c.-46 others(29): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 4590 | chr16 | TogoVar | ||||||
| PDPK1_chr16_2533021_2608188 | 2533460 | T | TTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0130 | 2 | 184 | 0.0109 | 18 | c.-46 others(29): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 4560 | chr16 | TogoVar | ||||||
| PDPN_chr1_13578832_13622957 | 13599011 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03490.hp1 NA18990.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0003g0190a0001c0001t0003g0191a0001c0001t0003g0192others(3): Show | 6 | 446 | 0.0135 | 18 | c.68- others(33): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PDPR_chr16_70109332_70167537 | 70122854 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02109.hp1 HG02258.hp2 others(12): Show |
a0001a0002a0004 | a0001c0005a0002c0002a0004c0004 | a0001c0005t0017a0002c0002t0001a0002c0002t0014others(4): Show | a0001c0005t0017g0026a0001c0005t0017g0027a0001c0005t0017g0028others(11): Show | 15 | 289 | 0.0519 | 18 | c.227 others(35): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PDPR_chr16_70109332_70167537 | 70138207 | A | ATGTTTTT others(11): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 289 | 0.0035 | 18 | c.119 others(35): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PDPR_chr16_70109332_70167537 | 70138207 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0040 | 1 | 289 | 0.0035 | 18 | c.119 others(35): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PDS5A_chr4_39817863_39982911 | 39831875 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0347 | 1 | 356 | 0.0028 | 18 | c.401 others(37): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 32/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39842903 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18964.hp1 NA18964.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0004 | a0001c0002t0002g0285a0001c0002t0003g0156a0001c0002t0004g0313others(4): Show | 7 | 356 | 0.0197 | 18 | c.354 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39842909 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01358.hp2 HG01496.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0020a0001c0001t0001g0032a0001c0001t0001g0045others(5): Show | 8 | 356 | 0.0225 | 18 | c.354 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39923638 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG02132.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0256a0001c0002t0002g0296a0001c0002t0005g0252others(15): Show | 18 | 356 | 0.0506 | 18 | c.528 others(33): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 5/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39923638 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0175a0001c0001t0002g0176a0001c0001t0002g0185others(4): Show | 7 | 356 | 0.0197 | 18 | c.528 others(33): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 5/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39923642 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02004.hp2 others(12): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0002g0216a0001c0002t0002g0217a0001c0002t0002g0218others(12): Show | 15 | 356 | 0.0421 | 18 | c.528 others(33): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 5/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39929519 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01975.hp1 HG02004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0047others(2): Show | 5 | 356 | 0.0140 | 18 | c.139 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39929519 | C | CTCTATAT others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0202 | 1 | 356 | 0.0028 | 18 | c.139 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0147a0001c0002t0003g0169 | 2 | 356 | 0.0056 | 18 | c.139 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0165 | 1 | 356 | 0.0028 | 18 | c.139 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0131 | 1 | 356 | 0.0028 | 18 | c.139 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18948.hp1 NA19058.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0116a0001c0002t0003g0122a0001c0002t0003g0149 | 3 | 356 | 0.0084 | 18 | c.139 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
| PDS5B_chr13_32581452_32783019 | 32655359 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01257.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0055 | a0001c0001t0001g0012a0001c0001t0002g0150a0001c0001t0002g0162others(1): Show | 4 | 334 | 0.0120 | 18 | c.313 others(35): 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(11): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0313 | 1 | 334 | 0.0030 | 18 | c.313 others(35): 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(11): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0198 | 1 | 334 | 0.0030 | 18 | c.313 others(35): 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(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0197 | 1 | 334 | 0.0030 | 18 | c.313 others(35): 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(11): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0199 | 1 | 334 | 0.0030 | 18 | c.313 others(35): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATTTTT others(11): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0095 | 1 | 334 | 0.0030 | 18 | c.313 others(35): 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(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01433.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(3): Show | a0001c0001t0001g0071a0001c0001t0010g0332a0001c0001t0012g0287others(8): Show | 11 | 334 | 0.0329 | 18 | c.224 others(37): 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(11): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0197 | 2 | 416 | 0.0048 | 18 | c.-46 others(29): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | ||||||
| PDSS1_chr10_26692701_26751798 | 26693079 | T | TTTTATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246a0001c0001t0001g0247a0001c0001t0001g0251others(3): Show | 6 | 416 | 0.0144 | 18 | c.-46 others(29): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 4621 | chr10 | TogoVar | ||||||
| PDSS1_chr10_26692701_26751798 | 26704083 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02027.hp2 HG02083.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101others(7): Show | 10 | 416 | 0.0240 | 18 | c.163 others(33): 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(11): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 260 | 0.0039 | 18 | c.104 others(39): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107225135 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01168.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0159a0001c0001t0001g0185a0001c0001t0001g0236others(6): Show | 9 | 260 | 0.0346 | 18 | c.703 others(37): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107227278 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 260 | 0.0039 | 18 | c.703 others(37): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107276119 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 260 | 0.0039 | 18 | c.432 others(35): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107429901 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 260 | 0.0039 | 18 | c.296 others(37): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107458412 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0226a0001c0001t0005g0227 | 2 | 260 | 0.0077 | 18 | c.296 others(33): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar |