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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAH_chr12_102831889_102922244 | 102871938 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG01109.hp1 NA19030.hp1 |
a0001a0003 | a0001c0004a0003c0017 | a0001c0004t0001a0003c0017t0001 | a0001c0004t0001g0139 a0003c0017t0001g0137 |
2 | 306 | 0.0065 | -29 | c.442 others(46): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168709612 | GAAGGAAG others(22): Show |
G | intron_variant | MODIFIER | NA18989.hp2 | a0003 | a0003c0013 | a0003c0013t0006 | a0003c0013t0006g0109 | 1 | 129 | 0.0078 | -29 | c.162 others(46): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99652711 | AAAAGAAA others(22): Show |
A | intron_variant | MODIFIER | HG03540.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 a0001c0001t0001g0245 |
2 | 378 | 0.0053 | -29 | c.45+ others(44): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PANK4_chr1_2503537_2531596 | 2530936 | TGGAGCCC others(22): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00738.hp1 others(10): Show |
a0002 | a0002c0004a0002c0009 | a0002c0004t0001a0002c0009t0001 | a0002c0004t0001g0010 a0002c0004t0001g0145 a0002c0004t0001g0146 others(6): Show |
13 | 398 | 0.0327 | -29 | c.-43 others(40): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 4341 | chr1 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69300638 | TTTCTTTC others(22): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01346.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0074 others(12): Show |
15 | 282 | 0.0532 | -29 | c.-27 others(48): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69383357 | GTGGGCCT others(22): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 282 | 0.0035 | -29 | c.180 others(46): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 204763421 | TAAATAAA others(22): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0017 | a0007c0017t0012 | a0007c0017t0012g0006 | 1 | 54 | 0.0185 | -29 | c.222 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205037279 | TATATATA others(22): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 |
a0002a0003 | a0002c0016a0003c0005 | a0002c0016t0002a0003c0005t0001 | a0002c0016t0002g0037 a0003c0005t0001g0010 |
2 | 54 | 0.0370 | -29 | c.395 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205057447 | TACATATA others(22): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0028 | 1 | 52 | 0.0192 | -29 | c.504 others(46): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205330006 | TAAATAAA others(22): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01109.hp2 others(37): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0053 a0001c0001t0002g0033 a0001c0001t0004g0017 others(37): Show |
40 | 54 | 0.7407 | -29 | c.263 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205381041 | AATATATA others(22): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031 | 1 | 54 | 0.0185 | -29 | c.263 others(50): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARN_chr16_14430701_14635260 | 14451843 | TAAAAAAA others(22): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 others(28): Show |
31 | 131 | 0.2366 | -29 | c.167 others(48): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | |||||||
PARP1_chr1_226355691_226413093 | 226408309 | TCTTACTT others(22): Show |
T | upstream_gene_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0005 | 1 | 354 | 0.0028 | -29 | c.-40 others(38): Show |
PARP1 | ENSG00000143799.14 | transcript | ENST00000366794.10 | protein_coding | 217 | chr1 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44114580 | AAGGCCCT others(22): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(5): Show | a0001c0001t0005g0328 a0001c0001t0008g0149 a0001c0001t0017g0090 others(5): Show |
8 | 330 | 0.0242 | -29 | c.274 others(46): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVG_chr22_44175925_44213469 | 44197000 | GGTGCACA others(22): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0149 | 1 | 420 | 0.0024 | -29 | c.711 others(44): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613959 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 239 | 0.0042 | -29 | c.649 others(44): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613973 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0004 | 1 | 250 | 0.0040 | -29 | c.649 others(44): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613979 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0006 | 1 | 203 | 0.0049 | -29 | c.649 others(44): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52596436 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 33 | 0.0303 | -29 | c.282 others(48): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 19/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164603924 | ATTTCATT others(22): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0159 | 1 | 149 | 0.0067 | -29 | c.265 others(48): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | NA18981.hp2 NA18999.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0002 | a0001c0001t0001g0205 a0004c0005t0002g0048 |
2 | 6 | 0.3333 | -29 | c.843 others(46): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX4_chr19_19556713_19623687 | 19568377 | AGTATCCC others(22): Show |
A | intron_variant | MODIFIER | HG03942.hp2 HG04115.hp1 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0259 a0001c0001t0001g0272 |
3 | 374 | 0.0080 | -29 | c.768 others(46): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45705342 | AGGTCACA others(22): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0168 | 1 | 290 | 0.0034 | -29 | c.-19 others(50): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45814959 | GGTGAGTG others(22): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01361.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0287 a0001c0001t0001g0288 |
3 | 290 | 0.0103 | -29 | c.-12 others(50): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53964413 | TAAATTTT others(22): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 |
a0007a0013 | a0007c0010a0013c0014 | a0007c0010t0001a0013c0014t0001 | a0007c0010t0001g0092 a0013c0014t0001g0012 |
2 | 92 | 0.0217 | -29 | c.286 others(48): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 21/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53964413 | TAAATTTT others(22): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 |
a0001a0008 | a0001c0001a0008c0016 | a0001c0001t0001a0008c0016t0001 | a0001c0001t0001g0084 a0008c0016t0001g0012 |
2 | 86 | 0.0233 | -29 | c.286 others(48): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 21/32 | chr10 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31056429 | AAAAAGAA others(22): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 214 | 0.0047 | -29 | c.339 others(50): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31056494 | AAAGAAAG others(22): Show |
A | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 214 | 0.0047 | -29 | c.339 others(50): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31097604 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0098 | 1 | 214 | 0.0047 | -29 | c.339 others(50): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31097606 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG04204.hp2 NA18943.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0048others(2): Show | a0001c0001t0002g0173 a0001c0001t0003g0073 a0001c0001t0003g0088 others(4): Show |
7 | 214 | 0.0327 | -29 | c.339 others(50): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 66298765 | GAGATAGA others(22): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02965.hp1 HG02970.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0017a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0017g0077 a0001c0003t0001g0039 a0001c0004t0001g0043 others(1): Show |
4 | 80 | 0.0500 | -29 | c.*58 others(40): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4068 | chr13 | TogoVar | |||||||
PCED1B_chr12_47074621_47241660 | 47089458 | ATACATAT others(22): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0203 others(4): Show |
7 | 313 | 0.0224 | -29 | c.-60 others(48): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
PCSK2_chr20_17222040_17489578 | 17348031 | GAAGAAAG others(22): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 253 | 0.0040 | -29 | c.283 others(48): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24593437 | CTTTCTTT others(22): Show |
C | intron_variant | MODIFIER | NA19007.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0043 | a0001c0001t0027g0089 a0001c0001t0043g0091 |
2 | 241 | 0.0083 | -29 | c.335 others(46): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165384642 | GTGTGTGT others(22): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0108 | 1 | 220 | 0.0045 | -29 | c.261 others(48): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 17/21 | chr6 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165384643 | TGTGTGTG others(22): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 194 | 0.0052 | -29 | c.261 others(48): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 17/21 | chr6 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177631501 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0063 | 1 | 165 | 0.0061 | -29 | c.264 others(48): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20395496 | TACATAGT others(22): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0110 | a0002c0002t0110g0091 | 1 | 163 | 0.0061 | -29 | c.960 others(48): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14775093 | CTTTTTCC others(22): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 a0001c0001t0002g0294 |
2 | 330 | 0.0061 | -29 | c.102 others(48): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59031363 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0054 a0001c0001t0012g0061 |
2 | 74 | 0.0270 | -29 | c.921 others(46): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 6/14 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149923550 | TAACATAA others(22): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG00738.hp1 others(39): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(24): Show | a0001c0001t0001g0199 a0001c0001t0004g0107 a0001c0001t0004g0111 others(39): Show |
42 | 326 | 0.1288 | -29 | c.859 others(46): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247876 | AAAAAAAA others(22): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp2 HG02148.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0121 others(3): Show |
6 | 345 | 0.0174 | -29 | c.-39 others(40): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2895 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247878 | AAAAAAAA others(22): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01496.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0172 a0001c0001t0002g0220 a0001c0001t0003g0059 |
3 | 344 | 0.0087 | -29 | c.-39 others(40): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2897 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247880 | AAAAAAAA others(22): Show |
A | upstream_gene_variant | MODIFIER | NA18957.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0041 |
2 | 353 | 0.0057 | -29 | c.-39 others(40): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2899 | chr22 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156891279 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0168 a0001c0002t0002g0169 |
2 | 10 | 0.2000 | -29 | c.119 others(48): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103955163 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0073 a0001c0001t0010g0129 |
2 | 6 | 0.3333 | -29 | c.511 others(46): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 285902 | TCCCAACC others(22): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02717.hp2 others(11): Show |
a0001a0009 | a0001c0001a0001c0005a0001c0019others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0019t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0099 others(4): Show |
14 | 419 | 0.0334 | -29 | c.111 others(46): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(22): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0002 a0001c0002t0006g0214 a0001c0002t0006g0233 others(3): Show |
6 | 12 | 0.5000 | -29 | c.-19 others(48): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0274 |
2 | 213 | 0.0094 | -29 | c.872 others(48): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG02257.hp2 others(3): Show |
a0002a0004a0005 | a0002c0016a0002c0024a0004c0020others(2): Show | a0002c0016t0001a0002c0024t0002a0004c0020t0001others(2): Show | a0002c0016t0001g0186 a0002c0016t0001g0187 a0002c0024t0002g0134 others(3): Show |
6 | 7 | 0.8571 | -29 | c.844 others(50): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |