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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDF_chr16_69321913_69335588 | 69331453 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01515.hp2 HG02602.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0002 others(3): Show |
19 | 364 | 0.0522 | -7 | c.-89 others(16): Show |
ENSG00000258429.2 | transcript | ENST00000288022.2 | protein_coding | 866 | chr16 | TogoVar | ||||||||
PDGFA_chr7_492258_524846 | 511376 | GGGGTGGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(140): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0002c0019others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(77): Show | a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0231 others(138): Show |
143 | 302 | 0.4735 | -7 | c.266 others(22): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 514967 | AAGACCCC | A | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01074.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(20): Show | a0001c0001t0001g0166 a0001c0001t0007g0197 a0001c0001t0007g0199 others(24): Show |
28 | 302 | 0.0927 | -7 | c.160 others(24): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2/5 | chr7 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39244732 | GGCTGCGA | G | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00738.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0004g0013 a0001c0001t0004g0025 a0001c0001t0004g0082 others(30): Show |
39 | 386 | 0.1010 | -7 | c.-77 others(16): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 1/7 | 770 | chr22 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156851930 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01069.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0120 others(62): Show |
65 | 208 | 0.3125 | -7 | c.119 others(24): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156891279 | CAAAAAAA | C | intron_variant | MODIFIER | HG02129.hp1 HG02155.hp1 HG02723.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0078 others(15): Show |
18 | 208 | 0.0865 | -7 | c.119 others(26): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104087021 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0040 others(82): Show |
85 | 200 | 0.4250 | -7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119070 | TGGTATAA | T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0109 a0001c0001t0003g0074 a0001c0001t0003g0112 others(6): Show |
9 | 200 | 0.0450 | -7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119071 | GGTATAAT | G | intron_variant | MODIFIER | HG00323.hp1 NA18949.hp2 NA18980.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0118 others(5): Show |
8 | 200 | 0.0400 | -7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119156 | TGATATAA | T | intron_variant | MODIFIER | HG00408.hp1 HG02970.hp2 NA19062.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0132 a0001c0001t0003g0128 a0001c0001t0003g0148 others(1): Show |
4 | 200 | 0.0200 | -7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119189 | TGATATAA | T | intron_variant | MODIFIER | HG00323.hp1 HG01891.hp2 HG02109.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0109 others(13): Show |
16 | 200 | 0.0800 | -7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104135148 | ATAACATT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(196): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(22): Show | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0020 others(196): Show |
199 | 200 | 0.9950 | -7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRA_chr4_54224293_54303245 | 54261922 | TATATATA | T | intron_variant | MODIFIER | HG00609.hp1 NA18955.hp2 NA18964.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0003 | a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 others(2): Show |
5 | 300 | 0.0167 | -7 | c.367 others(22): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 3/22 | chr4 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17627650 | ATTTTTAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00673.hp1 others(52): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(52): Show |
55 | 400 | 0.1375 | -7 | c.506 others(22): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17644746 | GTTCTTTA | G | downstream_gene_variant | MODIFIER | NA18944.hp1 NA18951.hp2 NA18990.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0300 others(1): Show |
4 | 400 | 0.0100 | -7 | c.*19 others(18): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 1603 | chr8 | TogoVar | |||||||
PDHA1_chrX_19338927_19366718 | 19346287 | CGCTGTGT | C | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0129 | 1 | 247 | 0.0041 | -7 | c.57+ others(22): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PDHA1_chrX_19338927_19366718 | 19359941 | CCCAGCCA | C | 3_prime_UTR_variant | MODIFIER | HG01361.hp2 HG02451.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0045 a0001c0002t0006g0049 a0001c0002t0006g0050 others(1): Show |
4 | 247 | 0.0162 | -7 | c.*29 others(16): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 11/11 | 291 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PDIA4_chr7_148998062_149033505 | 149024814 | TAAAAAAA | T | intron_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG02738.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 others(3): Show |
6 | 352 | 0.0171 | -7 | c.88+ others(22): Show |
PDIA4 | ENSG00000155660.11 | transcript | ENST00000652332.1 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
PDIA4_chr7_148998062_149033505 | 149025084 | AAATATAT | A | intron_variant | MODIFIER | HG01256.hp1 HG01257.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0193 a0001c0001t0002g0042 a0001c0001t0002g0205 others(2): Show |
6 | 352 | 0.0171 | -7 | c.88+ others(22): Show |
PDIA4 | ENSG00000155660.11 | transcript | ENST00000652332.1 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10800574 | ATTTTGAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(136): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0005a0002c0002others(4): Show | a0001c0003t0001a0001c0003t0006a0001c0003t0008others(9): Show | a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 others(129): Show |
139 | 342 | 0.4064 | -7 | c.161 others(24): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10805915 | TGGGGGGA | T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(25): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 others(22): Show |
28 | 342 | 0.0819 | -7 | c.20- others(22): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10809645 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02145.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0014a0001c0004t0002others(1): Show | a0001c0001t0004g0002 a0001c0001t0004g0034 a0001c0001t0004g0035 others(9): Show |
16 | 342 | 0.0468 | -7 | c.19+ others(22): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10816077 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG01258.hp2 others(17): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0006a0002c0002t0006 | a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 others(15): Show |
20 | 342 | 0.0585 | -7 | c.-33 others(18): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 3293 | chr2 | TogoVar | |||||||
PDILT_chr16_20354175_20409737 | 20367018 | CTCTTTCT | C | intron_variant | MODIFIER | HG02055.hp2 NA18941.hp2 NA18989.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0002 | a0001c0001t0001g0007 a0001c0001t0001g0349 a0001c0001t0001g0351 others(2): Show |
6 | 406 | 0.0148 | -7 | c.111 others(26): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
PDILT_chr16_20354175_20409737 | 20367027 | CTTTCTTT | C | intron_variant | MODIFIER | HG03942.hp2 NA18612.hp1 NA18960.hp1 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0128 a0005c0008t0001g0193 a0005c0008t0001g0259 others(1): Show |
4 | 406 | 0.0099 | -7 | c.111 others(26): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
PDK1_chr2_172551090_172613669 | 172571823 | CTTTTTTT | C | intron_variant | MODIFIER | HG02559.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0027a0001c0001t0033others(1): Show | a0001c0001t0009g0095 a0001c0001t0027g0008 a0001c0001t0027g0029 others(3): Show |
6 | 342 | 0.0175 | -7 | c.945 others(24): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PDK2_chr17_50090351_50117152 | 50093976 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0008 | a0001c0002t0007g0007 a0001c0002t0008g0028 |
8 | 398 | 0.0201 | -7 | c.-14 others(18): Show |
PDK2 | ENSG00000005882.12 | transcript | ENST00000503176.6 | protein_coding | 1374 | chr17 | TogoVar | |||||||
PDK3_chrX_24460286_24539422 | 24506801 | CTTTTTTT | C | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 258 | 0.0039 | -7 | c.595 others(24): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PDK3_chrX_24460286_24539422 | 24537282 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 258 | 0.0039 | -7 | c.*32 others(18): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 2861 | chrX | TogoVar | |||||||
PDLIM1_chr10_95232572_95296003 | 95265593 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00597.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0155 a0001c0001t0004g0018 a0001c0002t0002g0003 others(44): Show |
50 | 338 | 0.1479 | -7 | c.334 others(24): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22593577 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(74): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 others(58): Show |
77 | 380 | 0.2026 | -7 | c.882 others(22): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185506122 | GCACAGAA | G | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02145.hp2 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(4): Show | a0001c0001t0001g0290 a0001c0002t0001g0261 a0001c0002t0001g0291 others(12): Show |
16 | 412 | 0.0388 | -7 | c.793 others(22): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
PDLIM3_chr4_185495660_185540507 | 185530966 | AAACACAC | A | intron_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG01255.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0171 others(3): Show |
6 | 412 | 0.0146 | -7 | c.93+ others(22): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94494432 | GTTTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0002t0002others(14): Show | a0001c0001t0004g0142 a0001c0001t0004g0154 a0001c0001t0005g0189 others(43): Show |
46 | 218 | 0.2110 | -7 | c.97- others(24): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94532378 | GGCTCCCT | G | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 |
3 | 218 | 0.0138 | -7 | c.248 others(24): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94538286 | TTTGAGTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(40): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0020a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0001t0020g0165 a0001c0001t0020g0195 a0001c0002t0002g0032 others(40): Show |
43 | 218 | 0.1973 | -7 | c.248 others(26): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDPK1_chr16_2533021_2608188 | 2600046 | ACCCAGCC | A | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02647.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 a0001c0002t0002g0155 a0001c0002t0002g0156 others(8): Show |
11 | 184 | 0.0598 | -7 | c.*22 others(18): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 14/14 | 2282 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDPN_chr1_13578832_13622957 | 13579423 | AATTTTTT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(173): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(160): Show |
176 | 446 | 0.3946 | -7 | c.-46 others(18): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 4408 | chr1 | TogoVar | |||||||
PDPN_chr1_13578832_13622957 | 13618179 | GTGGCACC | G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG02615.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0021a0001c0001t0040others(1): Show | a0001c0001t0015g0011 a0001c0001t0015g0151 a0001c0001t0015g0293 others(5): Show |
9 | 446 | 0.0202 | -7 | c.*22 others(18): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 223 | chr1 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39829950 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00558.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(7): Show | a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0002g0240 others(48): Show |
51 | 356 | 0.1433 | -7 | c.401 others(26): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 32/32 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT | G | intron_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0002g0134 a0001c0001t0002g0165 a0001c0001t0004g0205 others(3): Show |
6 | 334 | 0.0180 | -7 | c.-19 others(26): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32645992 | GGGTGTGT | G | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0110 a0001c0001t0014g0052 a0001c0001t0014g0053 others(2): Show |
5 | 334 | 0.0150 | -7 | c.-19 others(24): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32652577 | TAAAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(97): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0012a0001c0001t0022a0001c0002t0003others(20): Show | a0001c0001t0012g0286 a0001c0001t0012g0287 a0001c0001t0012g0288 others(96): Show |
100 | 334 | 0.2994 | -7 | c.312 others(22): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32752063 | AGTGTAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0009a0001c0002t0003a0001c0002t0005others(20): Show | a0001c0001t0009g0176 a0001c0002t0003g0001 a0001c0002t0003g0002 others(93): Show |
97 | 334 | 0.2904 | -7 | c.273 others(26): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107162494 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0099 a0001c0001t0003g0148 a0001c0001t0003g0150 others(3): Show |
6 | 260 | 0.0231 | -7 | c.104 others(26): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107185140 | AAAAGAAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0014others(1): Show | a0001c0001t0005g0071 a0001c0001t0005g0093 a0001c0001t0005g0095 others(5): Show |
8 | 260 | 0.0308 | -7 | c.104 others(26): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107197480 | CAAAAAAA | C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 a0001c0001t0001g0206 a0001c0001t0001g0207 others(2): Show |
5 | 260 | 0.0192 | -7 | c.100 others(26): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107225159 | ATATTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG02027.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0112 a0001c0001t0001g0214 a0001c0001t0002g0012 others(10): Show |
13 | 260 | 0.0500 | -7 | c.703 others(26): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107225161 | ATTTTTTT | A | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00673.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0041 others(22): Show |
25 | 260 | 0.0962 | -7 | c.703 others(26): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107429902 | ATATATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG00741.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(35): Show |
38 | 260 | 0.1462 | -7 | c.296 others(26): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar |