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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFA_chr7_492258_524846 | 494182 | GGTCCCCG others(15): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00609.hp1 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(33): Show | a0001c0001t0001g0005a0001c0001t0001g0147a0001c0001t0001g0166others(71): Show | 75 | 302 | 0.2483 | -22 | c.*43 others(33): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3075 | chr7 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247875 | AAAAAAAA others(15): Show |
A | upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | -22 | c.-39 others(33): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2894 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247877 | AAAAAAAA others(15): Show |
A | upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 386 | 0.0026 | -22 | c.-39 others(33): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2896 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247879 | AAAAAAAA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 386 | 0.0026 | -22 | c.-39 others(33): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2898 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247883 | AAAAAAAA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 | 1 | 386 | 0.0026 | -22 | c.-39 others(33): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2902 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247889 | AATATATA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 386 | 0.0026 | -22 | c.-39 others(33): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2908 | chr22 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156824315 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 208 | 0.0048 | -22 | c.315 others(41): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156891279 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | NA19012.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0205a0001c0001t0007g0185 | 2 | 208 | 0.0096 | -22 | c.119 others(41): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156891304 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02896.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0087a0001c0002t0002g0106a0001c0002t0002g0149 | 3 | 208 | 0.0144 | -22 | c.119 others(41): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156920644 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0002 | a0001c0001t0020g0004a0001c0002t0002g0169 | 2 | 208 | 0.0096 | -22 | c.118 others(41): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156945342 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0076a0001c0001t0001g0078a0001c0001t0001g0079others(7): Show | 10 | 208 | 0.0481 | -22 | c.118 others(41): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 103955163 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0163a0001c0002t0001g0001 | 2 | 200 | 0.0100 | -22 | c.511 others(39): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104119382 | TATATAAT others(15): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 200 | 0.0050 | -22 | c.124 others(41): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFRA_chr4_54224293_54303245 | 54271968 | CCCCCCTC others(15): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01496.hp1 HG02135.hp2 others(8): Show |
a0001a0002 | a0001c0019a0002c0002 | a0001c0019t0024a0002c0002t0002 | a0001c0019t0024g0111a0002c0002t0002g0034a0002c0002t0002g0035others(8): Show | 11 | 300 | 0.0367 | -22 | c.123 others(39): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17578033 | GGTCTGGT others(15): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(162): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0057others(162): Show | 165 | 400 | 0.4125 | -22 | c.55+ others(35): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17638738 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02145.hp2 NA18977.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0333a0001c0002t0001g0298 | 2 | 400 | 0.0050 | -22 | c.940 others(39): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDHX_chr11_34911618_35001128 | 34964773 | ATATTAGC others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(138): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0018a0001c0024others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(126): Show | 141 | 314 | 0.4490 | -22 | c.642 others(39): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDK3_chrX_24460286_24539422 | 24518837 | GCACACAC others(15): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 258 | 0.0039 | -22 | c.596 others(35): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PDK3_chrX_24460286_24539422 | 24535920 | AGAAAAGA others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 258 | 0.0039 | -22 | c.*18 others(33): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 1499 | chrX | TogoVar | ||||||
PDK4_chr7_95578499_95601516 | 95580039 | TTATATAT others(15): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01106.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0010a0001c0001t0013others(4): Show | a0001c0001t0004g0005a0001c0001t0004g0046a0001c0001t0004g0118others(8): Show | 25 | 384 | 0.0651 | -22 | c.*55 others(33): Show |
PDK4 | ENSG00000004799.8 | transcript | ENST00000005178.6 | protein_coding | 3459 | chr7 | TogoVar | ||||||
PDLIM2_chr8_22575475_22599298 | 22599117 | TCCCTCTC others(15): Show |
T | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 380 | 0.0026 | -22 | c.*52 others(33): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 4820 | chr8 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185504990 | TACCCATG others(15): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02280.hp2 others(7): Show |
a0002a0005 | a0002c0003a0005c0009 | a0002c0003t0002a0005c0009t0002 | a0002c0003t0002g0018a0002c0003t0002g0056a0002c0003t0002g0065others(6): Show | 10 | 412 | 0.0243 | -22 | c.794 others(37): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 6/7 | chr4 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185530967 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG02622.hp2 NA19007.hp2 NA19070.hp1 |
a0001a0002 | a0001c0001a0001c0012a0002c0003 | a0001c0001t0001a0001c0012t0001a0002c0003t0004 | a0001c0001t0001g0138a0001c0012t0001g0202a0002c0003t0004g0298 | 3 | 412 | 0.0073 | -22 | c.93+ others(37): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94543778 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG01243.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0011a0001c0001t0002g0085a0001c0001t0002g0086others(15): Show | 18 | 218 | 0.0826 | -22 | c.248 others(41): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDLIM5_chr4_94446942_94673223 | 94571841 | TGCTCATT others(15): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01346.hp1 HG01981.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0040a0003c0004t0001g0073a0003c0004t0001g0075 | 3 | 218 | 0.0138 | -22 | c.249 others(39): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDLIM5_chr4_94446942_94673223 | 94659479 | AGTATATA others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0149 | 1 | 218 | 0.0046 | -22 | c.158 others(41): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDP2_chr16_66875515_66896101 | 66893509 | GTGTATAT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0023a0001c0001t0024others(5): Show | a0001c0001t0014g0003a0001c0001t0023g0003a0001c0001t0024g0003others(6): Show | 15 | 356 | 0.0421 | -22 | c.*76 others(33): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2409 | chr16 | TogoVar | ||||||
PDP2_chr16_66875515_66896101 | 66893523 | ATATATAT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0001 | 1 | 356 | 0.0028 | -22 | c.*76 others(33): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2423 | chr16 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39817880 | CTATATAT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG02300.hp1 NA18943.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0063a0001c0002t0003g0116a0001c0002t0003g0117others(7): Show | 10 | 356 | 0.0281 | -22 | c.*75 others(33): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 4982 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39829950 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 356 | 0.0028 | -22 | c.401 others(41): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 32/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39929519 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp1 others(49): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0008others(6): Show | a0001c0002t0002g0256a0001c0002t0002g0296a0001c0002t0005g0203others(49): Show | 52 | 356 | 0.1461 | -22 | c.139 others(39): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0115a0001c0001t0004g0317 | 2 | 334 | 0.0060 | -22 | c.-19 others(41): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDSS1_chr10_26692701_26751798 | 26703841 | GGAGGCCA others(15): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(131): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0025others(130): Show | 134 | 416 | 0.3221 | -22 | c.163 others(37): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDSS2_chr6_107147562_107464564 | 107429901 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0098others(4): Show | 7 | 260 | 0.0269 | -22 | c.296 others(41): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741359 | CGCGGGGG others(15): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0222 | 1 | 358 | 0.0028 | -22 | c.143 others(37): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXP_chr22_37653723_37671932 | 37661917 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0077 | 3 | 418 | 0.0072 | -22 | c.574 others(39): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31676108 | TATCCTTT others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG06807.hp1 others(1): Show |
a0002a0005a0007 | a0002c0002a0002c0003a0005c0045others(1): Show | a0002c0002t0008a0002c0003t0002a0005c0045t0038others(1): Show | a0002c0002t0008g0175a0002c0003t0002g0171a0005c0045t0038g0176others(1): Show | 4 | 216 | 0.0185 | -22 | c.-36 others(43): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31850051 | CGTGTATA others(15): Show |
C | intron_variant | MODIFIER | HG00544.hp1 NA18986.hp2 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0003c0004t0042 | a0002c0003t0002g0132a0003c0004t0042g0025 | 2 | 216 | 0.0093 | -22 | c.476 others(41): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD7_chr10_101002679_101036129 | 101017833 | AGGAAGGA others(15): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00733.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0063a0001c0001t0001g0064others(34): Show | 38 | 432 | 0.0880 | -22 | c.152 others(39): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101017891 | GAAAAGAA others(15): Show |
G | intron_variant | MODIFIER | HG00621.hp1 NA18999.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0003 | a0001c0001t0007g0036a0002c0002t0003g0038 | 2 | 432 | 0.0046 | -22 | c.152 others(39): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01175.hp2 others(13): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0003a0001c0001t0007a0001c0001t0018others(7): Show | a0001c0001t0003g0183a0001c0001t0007g0172a0001c0001t0007g0186others(13): Show | 16 | 322 | 0.0497 | -22 | c.872 others(41): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG01978.hp2 |
a0001a0011 | a0001c0001a0011c0011 | a0001c0001t0001a0011c0011t0058 | a0001c0001t0001g0201a0011c0011t0058g0213 | 2 | 322 | 0.0062 | -22 | c.872 others(41): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73562993 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0014 | 1 | 216 | 0.0046 | -22 | c.918 others(41): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73565786 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp2 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0035others(70): Show | 73 | 216 | 0.3380 | -22 | c.918 others(41): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73603870 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 216 | 0.0046 | -22 | c.811 others(39): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG02647.hp2 NA18906.hp1 |
a0002a0005 | a0002c0009a0002c0015a0005c0059 | a0002c0009t0001a0002c0015t0001a0005c0059t0001 | a0002c0009t0001g0172a0002c0015t0001g0146a0005c0059t0001g0193 | 3 | 206 | 0.0146 | -22 | c.844 others(43): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41545509 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0124 | 1 | 206 | 0.0049 | -22 | c.120 others(41): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEAK1_chr15_77103158_77425104 | 77407892 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0293 | 1 | 326 | 0.0031 | -22 | c.-66 others(43): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22751606 | GTGTCTGT others(15): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0110 | 1 | 278 | 0.0036 | -22 | c.358 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22751610 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00558.hp2 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(14): Show | a0001c0001t0001g0049a0001c0001t0001g0082a0001c0001t0001g0106others(24): Show | 27 | 278 | 0.0971 | -22 | c.358 others(41): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar |