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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFRL_chr8_17572216_17648144 | 17592923 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0298 | 1 | 400 | 0.0025 | -13 | c.353 others(30): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17609634 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 400 | 0.0025 | -13 | c.354 others(32): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17609653 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG02148.hp2 HG02165.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0051 a0001c0001t0001g0081 a0001c0001t0001g0082 others(5): Show |
8 | 400 | 0.0200 | -13 | c.354 others(32): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDHA1_chrX_19338927_19366718 | 19360101 | TTTTAAAA others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp1 others(14): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0004a0001c0002t0018a0001c0002t0019others(1): Show | a0001c0002t0004g0011 a0001c0002t0004g0021 a0001c0002t0004g0022 others(10): Show |
17 | 247 | 0.0688 | -13 | c.*45 others(22): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 11/11 | 452 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PDHX_chr11_34911618_35001128 | 34915001 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18950.hp2 NA18957.hp2 NA18972.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0147 a0001c0002t0002g0175 a0001c0002t0002g0176 |
3 | 314 | 0.0096 | -13 | c.-16 others(24): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 1616 | chr11 | TogoVar | |||||||
PDIA5_chr3_123062025_123167104 | 123141304 | AGCCTCTC others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02630.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0001a0002c0007t0001 | a0001c0003t0001g0278 a0002c0007t0001g0267 a0002c0007t0001g0286 others(2): Show |
5 | 332 | 0.0151 | -13 | c.911 others(30): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10782829 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02257.hp2 others(14): Show |
a0001 | a0001c0004a0001c0012a0001c0013 | a0001c0004t0002a0001c0004t0015a0001c0012t0002others(1): Show | a0001c0004t0002g0023 a0001c0004t0002g0262 a0001c0004t0002g0268 others(13): Show |
17 | 342 | 0.0497 | -13 | c.*14 others(24): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 561 | chr2 | TogoVar | |||||||
PDILT_chr16_20354175_20409737 | 20367027 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0017 | 1 | 406 | 0.0025 | -13 | c.111 others(32): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
PDILT_chr16_20354175_20409737 | 20367087 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0137 | 1 | 406 | 0.0025 | -13 | c.111 others(32): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
PDK1_chr2_172551090_172613669 | 172568327 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0131 a0001c0001t0008g0132 |
2 | 342 | 0.0059 | -13 | c.770 others(28): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95235549 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG01256.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0155 a0001c0001t0001g0211 a0001c0001t0001g0262 others(20): Show |
23 | 338 | 0.0681 | -13 | c.*23 others(24): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 2022 | chr10 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22583854 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG03927.hp1 NA19074.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0002t0001g0217 |
3 | 380 | 0.0079 | -13 | c.246 others(28): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94527046 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 NA18522.hp2 |
a0001a0008 | a0001c0001a0008c0015 | a0001c0001t0002a0008c0015t0028 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0008c0015t0028g0004 |
3 | 218 | 0.0138 | -13 | c.248 others(30): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94543822 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp2 NA19002.hp1 |
a0003a0004 | a0003c0004a0004c0005 | a0003c0004t0001a0004c0005t0001 | a0003c0004t0001g0102 a0004c0005t0001g0069 |
2 | 218 | 0.0092 | -13 | c.248 others(32): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94621070 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(16): Show |
19 | 218 | 0.0872 | -13 | c.110 others(32): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177486931 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(64): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0012others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(7): Show | a0001c0001t0001g0168 a0001c0001t0001g0327 a0001c0002t0001g0187 others(42): Show |
67 | 440 | 0.1523 | -13 | c.105 others(32): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
PDLIM7_chr5_177478394_177502604 | 177490750 | GAAGGAAG others(6): Show |
G | intron_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0059 | 1 | 440 | 0.0023 | -13 | c.572 others(28): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 7/12 | chr5 | TogoVar | |||||||
PDP2_chr16_66875515_66896101 | 66893540 | TATATGTA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0008 | 1 | 356 | 0.0028 | -13 | c.*76 others(24): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2440 | chr16 | TogoVar | |||||||
PDPN_chr1_13578832_13622957 | 13612817 | ACTGGATA others(6): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 446 | 0.0022 | -13 | c.332 others(28): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PDPR_chr16_70109332_70167537 | 70111177 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0017 | a0001c0017t0063 | a0001c0017t0063g0029 | 1 | 289 | 0.0035 | -13 | c.-34 others(24): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 3154 | chr16 | TogoVar | |||||||
PDPR_chr16_70109332_70167537 | 70138207 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 a0001c0001t0002g0166 |
2 | 289 | 0.0069 | -13 | c.119 others(30): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39829950 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01169.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0006t0002 | a0001c0001t0001g0029 a0001c0002t0002g0216 a0001c0002t0002g0218 others(9): Show |
12 | 356 | 0.0337 | -13 | c.401 others(32): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 32/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39899851 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0068 | 1 | 356 | 0.0028 | -13 | c.158 others(30): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 14/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39971012 | TCCTCCCA others(6): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02132.hp2 NA18968.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0256 a0001c0002t0005g0254 a0001c0002t0005g0255 others(2): Show |
5 | 356 | 0.0140 | -13 | c.138 others(30): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02698.hp1 HG02970.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0016a0001c0002t0011others(4): Show | a0001c0001t0002g0186 a0001c0001t0002g0315 a0001c0001t0016g0295 others(7): Show |
10 | 334 | 0.0299 | -13 | c.-19 others(32): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32637218 | ATGATTTC others(6): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(231): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(54): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(230): Show |
234 | 334 | 0.7006 | -13 | c.-19 others(32): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | chr13 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32692414 | CCTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp2 |
a0001 | a0001c0002 | a0001c0002t0032a0001c0002t0033 | a0001c0002t0032g0221 a0001c0002t0033g0222 |
2 | 334 | 0.0060 | -13 | c.147 others(32): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 13/34 | chr13 | TogoVar | |||||||
PDSS1_chr10_26692701_26751798 | 26729904 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 416 | 0.0024 | -13 | c.832 others(30): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26737722 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02074.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0159 others(5): Show |
8 | 416 | 0.0192 | -13 | c.102 others(32): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107155877 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01257.hp1 HG01934.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 others(11): Show |
14 | 260 | 0.0539 | -13 | c.104 others(32): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43725298 | GGGCGACA others(6): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0083a0001c0001t0084 | a0001c0001t0007g0357 a0001c0001t0083g0355 a0001c0001t0084g0356 |
3 | 358 | 0.0084 | -13 | c.87+ others(28): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741187 | CGGGGGGG others(6): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0052 | a0001c0001t0014g0179 a0001c0001t0052g0358 |
2 | 358 | 0.0056 | -13 | c.143 others(28): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741267 | CGGGGGGG others(6): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 358 | 0.0028 | -13 | c.143 others(28): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741279 | CGGGGGGG others(6): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0179 | 1 | 358 | 0.0028 | -13 | c.143 others(28): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741394 | CGGGGGGG others(6): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02109.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0146 a0001c0001t0002g0228 a0001c0001t0005g0209 |
3 | 358 | 0.0084 | -13 | c.143 others(28): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXP_chr22_37653723_37671932 | 37661917 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0082 a0001c0001t0003g0017 a0001c0001t0003g0018 others(3): Show |
12 | 418 | 0.0287 | -13 | c.574 others(30): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31667843 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0025 | a0025c0019 | a0025c0019t0007 | a0025c0019t0007g0205 | 1 | 216 | 0.0046 | -13 | c.-36 others(34): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31740524 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 216 | 0.0046 | -13 | c.-36 others(34): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31823154 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03098.hp2 |
a0025a0028 | a0025c0019a0028c0054 | a0025c0019t0007a0028c0054t0009 | a0025c0019t0007g0205 a0028c0054t0009g0039 |
2 | 216 | 0.0093 | -13 | c.476 others(32): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32026894 | GTTGTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0007 | 1 | 216 | 0.0046 | -13 | c.140 others(34): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32091279 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 216 | 0.0046 | -13 | c.772 others(30): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32104716 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02451.hp1 others(8): Show |
a0001a0004a0025 | a0001c0001a0004c0006a0004c0029others(1): Show | a0001c0001t0010a0004c0006t0007a0004c0006t0010others(2): Show | a0001c0001t0010g0040 a0004c0006t0007g0179 a0004c0006t0007g0190 others(8): Show |
11 | 216 | 0.0509 | -13 | c.835 others(32): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD4_chrX_153797166_153835544 | 153833988 | ATTTTTTT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 281 | 0.0036 | -13 | c.-37 others(24): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 3445 | chrX | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101009599 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 |
a0004 | a0004c0016 | a0004c0016t0001a0004c0016t0024 | a0004c0016t0001g0181 a0004c0016t0024g0271 |
2 | 432 | 0.0046 | -13 | c.261 others(30): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 15/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101023070 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG02040.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0042 a0001c0001t0002g0114 a0001c0001t0004g0123 others(30): Show |
33 | 432 | 0.0764 | -13 | c.542 others(28): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117281351 | CAAAAAAA others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0020a0001c0002t0035others(3): Show | a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 others(35): Show |
38 | 322 | 0.1180 | -13 | c.*19 others(24): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 5/5 | 1904 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02486.hp1 HG02738.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0053a0004c0006t0001 | a0001c0001t0001g0212 a0001c0001t0001g0246 a0001c0001t0001g0261 others(3): Show |
6 | 322 | 0.0186 | -13 | c.872 others(32): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73563007 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA19043.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0005t0002 | a0001c0002t0003g0049 a0001c0005t0002g0214 |
2 | 216 | 0.0093 | -13 | c.918 others(32): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73581972 | TGCCTGTG others(6): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp2 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 others(66): Show |
69 | 216 | 0.3194 | -13 | c.918 others(32): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41402297 | ATACACAC others(6): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG02148.hp2 others(13): Show |
a0001a0003a0008 | a0001c0004a0003c0005a0003c0006others(4): Show | a0001c0004t0001a0003c0005t0001a0003c0006t0002others(4): Show | a0001c0004t0001g0157 a0003c0005t0001g0017 a0003c0005t0001g0018 others(13): Show |
16 | 206 | 0.0777 | -13 | c.844 others(34): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |