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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRPSAP1_chr17_76304478_76358916 | 76320290 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0003g0286 a0001c0001t0005g0320 a0001c0001t0010g0039 others(4): Show |
7 | 218 | 0.0321 | -9 | c.782 others(26): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP2_chr17_18853131_18936287 | 18871653 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(173): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 others(172): Show |
176 | 367 | 0.4796 | -9 | c.173 others(24): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRR13_chr12_53436734_53451638 | 53451366 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 HG02922.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
3 | 386 | 0.0078 | -9 | c.*53 others(20): Show |
PRR13 | ENSG00000205352.11 | transcript | ENST00000429243.7 | protein_coding | 4729 | chr12 | TogoVar | |||||||
PRR20B_chr13_57142488_57155509 | 57146305 | CCCCGCCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01358.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0002g0006 others(5): Show |
10 | 168 | 0.0595 | -9 | c.-14 others(20): Show |
PRR20B | ENSG00000204918.3 | transcript | ENST00000377930.1 | protein_coding | 1182 | chr13 | TogoVar | |||||||
PRR20B_chr13_57142488_57155509 | 57152861 | AGCCCGCC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01070.hp1 others(9): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0026 a0001c0001t0004g0035 a0001c0001t0009g0005 others(8): Show |
12 | 149 | 0.0805 | -9 | c.*33 others(20): Show |
PRR20B | ENSG00000204918.3 | transcript | ENST00000377930.1 | protein_coding | 2353 | chr13 | TogoVar | |||||||
PRR20C_chr13_57149061_57162082 | 57152861 | AGCCCGCC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 123 | 0.0732 | -9 | c.-14 others(20): Show |
PRR20C | ENSG00000229665.8 | transcript | ENST00000544357.2 | protein_coding | 1199 | chr13 | TogoVar | |||||||
PRR22_chr19_5777960_5789746 | 5779062 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(118): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0003t0001g0007 others(15): Show |
121 | 191 | 0.6335 | -9 | c.*39 others(20): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 3897 | chr19 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36351775 | ATTTATAT others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01175.hp1 others(10): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 others(10): Show |
13 | 270 | 0.0481 | -9 | c.-12 others(30): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36391024 | AGAAGCTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(166): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 others(166): Show |
169 | 270 | 0.6259 | -9 | c.-12 others(28): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171522581 | CCAGCATG others(2): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02738.hp1 NA18946.hp1 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0012 a0004c0004t0001g0043 a0004c0004t0001g0044 others(7): Show |
10 | 334 | 0.0299 | -9 | c.833 others(24): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 7/34 | chr1 | TogoVar | |||||||
PRRC2C_chr1_171480530_171598511 | 171559505 | GTTTGTTT others(2): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01099.hp1 others(17): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0004a0005c0006others(3): Show | a0001c0001t0001a0004c0004t0001a0004c0004t0004others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0100 others(17): Show |
20 | 47 | 0.4255 | -9 | c.603 others(28): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151703856 | GGTTTTTT others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01070.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0013others(1): Show | a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0008g0008 others(4): Show |
10 | 177 | 0.0565 | -9 | c.*28 others(20): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2824 | chrX | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32837507 | AGATGATG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0008a0001c0001t0033others(2): Show | a0001c0001t0003g0017 a0001c0001t0003g0041 a0001c0001t0003g0074 others(11): Show |
24 | 273 | 0.0879 | -9 | c.267 others(24): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32837535 | GATGATGA others(2): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01175.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0003a0001c0001t0021a0001c0001t0050others(5): Show | a0001c0001t0003g0133 a0001c0001t0003g0143 a0001c0001t0021g0054 others(14): Show |
18 | 374 | 0.0481 | -9 | c.267 others(24): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32837538 | GATGATTA others(2): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0021a0001c0001t0049others(2): Show | a0001c0001t0003g0140 a0001c0001t0021g0054 a0001c0001t0049g0224 others(4): Show |
8 | 327 | 0.0245 | -9 | c.267 others(24): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRG4_chr11_32824927_32863120 | 32844467 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0031 others(43): Show |
65 | 86 | 0.7558 | -9 | c.449 others(26): Show |
PRRG4 | ENSG00000135378.4 | transcript | ENST00000257836.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRT2_chr16_29807193_29820881 | 29810105 | GGCAGCGG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG02165.hp2 HG02602.hp1 HG02683.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0002g0001 a0003c0003t0001g0001 |
5 | 320 | 0.0156 | -9 | c.-22 others(20): Show |
PRRT2 | ENSG00000167371.21 | transcript | ENST00000358758.12 | protein_coding | 2087 | chr16 | TogoVar | |||||||
PRSS12_chr4_118275038_118358003 | 118299799 | AAAATAAA others(2): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0170 a0001c0004t0001g0188 a0001c0004t0001g0240 others(1): Show |
4 | 345 | 0.0116 | -9 | c.163 others(26): Show |
PRSS12 | ENSG00000164099.3 | transcript | ENST00000296498.3 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
PRSS48_chr4_151272161_151296862 | 151275825 | CTATTATT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0095 |
3 | 417 | 0.0072 | -9 | c.-13 others(20): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 1335 | chr4 | TogoVar | |||||||
PRSS50_chr3_46707117_46722869 | 46709948 | CGTCCCTC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01891.hp2 others(17): Show |
a0002a0004 | a0002c0002a0002c0005a0002c0018others(1): Show | a0002c0002t0002a0002c0005t0001a0002c0018t0002others(1): Show | a0002c0002t0002g0004 a0002c0002t0002g0078 a0002c0005t0001g0009 others(3): Show |
20 | 418 | 0.0478 | -9 | c.*22 others(20): Show |
PRSS50 | ENSG00000283706.2 | transcript | ENST00000315170.13 | protein_coding | 2168 | chr3 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24934239 | AAGAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0035 a0001c0001t0005g0030 a0001c0001t0005g0314 others(1): Show |
4 | 336 | 0.0119 | -9 | c.339 others(26): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRTG_chr15_55606544_55748152 | 55709145 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02965.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0032a0001c0001t0033a0002c0002t0068others(3): Show | a0001c0001t0032g0098 a0001c0001t0032g0103 a0001c0001t0033g0101 others(6): Show |
9 | 50 | 0.1800 | -9 | c.398 others(28): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 2/19 | chr15 | TogoVar | |||||||
PRUNE1_chr1_151003449_151040713 | 151038000 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00741.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0270 others(8): Show |
11 | 53 | 0.2075 | -9 | c.*37 others(20): Show |
PRUNE1 | ENSG00000143363.17 | transcript | ENST00000271620.8 | protein_coding | 2288 | chr1 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76838645 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01168.hp1 others(57): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0011others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0114 a0001c0001t0001g0151 a0001c0001t0001g0230 others(57): Show |
60 | 151 | 0.3974 | -9 | c.508 others(26): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 4/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76897390 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02897.hp2 HG03704.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0002a0003c0003others(2): Show | a0001c0004t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0004t0001g0211 a0002c0002t0001g0208 a0002c0002t0002g0017 others(4): Show |
7 | 27 | 0.2593 | -9 | c.36+ others(24): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRXL2C_chr9_96634577_96660317 | 96644881 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01891.hp1 HG02257.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(6): Show | a0001c0001t0004g0061 a0001c0001t0006g0069 a0001c0001t0012g0130 others(11): Show |
16 | 67 | 0.2388 | -9 | c.553 others(26): Show |
PRXL2C | ENSG00000158122.12 | transcript | ENST00000375234.8 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40399904 | TTTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01168.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0020 others(2): Show |
6 | 303 | 0.0198 | -9 | c.185 others(26): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40405626 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02145.hp2 others(14): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0001a0005c0005t0001a0006c0006t0001 | a0001c0001t0001g0008 a0001c0001t0001g0055 a0001c0001t0001g0068 others(9): Show |
17 | 42 | 0.4048 | -9 | c.28- others(24): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
PRY_chrY_22485397_22519637 | 22513539 | TGGGATTA others(2): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 119 | 0.0084 | -9 | c.186 others(24): Show |
PRY | ENSG00000169789.10 | transcript | ENST00000303728.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PSAP_chr10_71811298_71856251 | 71839178 | GGCAAATT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp2 others(98): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0023 others(70): Show |
101 | 428 | 0.2360 | -9 | c.41- others(24): Show |
PSAP | ENSG00000197746.15 | transcript | ENST00000394936.8 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
PSAT1_chr9_78292125_78335093 | 78299144 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0154 others(39): Show |
49 | 135 | 0.3630 | -9 | c.61- others(24): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSAT1_chr9_78292125_78335093 | 78302733 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(237): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(195): Show |
240 | 329 | 0.7295 | -9 | c.191 others(24): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18524782 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01934.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0022others(7): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(16): Show | a0001c0001t0006g0173 a0001c0001t0006g0198 a0001c0001t0007g0102 others(21): Show |
24 | 146 | 0.1644 | -9 | c.*10 others(22): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2520 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18571363 | CCTCTGAT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(84): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(65): Show | a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0075 others(84): Show |
87 | 226 | 0.3850 | -9 | c.278 others(28): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 14/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18743959 | TCACCACC others(2): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02698.hp1 HG02922.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0015a0001c0001t0069a0003c0004t0001 | a0001c0001t0015g0169 a0001c0001t0015g0174 a0001c0001t0069g0018 others(2): Show |
5 | 39 | 0.1282 | -9 | c.217 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18752625 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01243.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0016a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(14): Show | a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0205 others(17): Show |
20 | 197 | 0.1015 | -9 | c.217 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18838802 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02083.hp1 HG02109.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0007a0002c0011others(4): Show | a0001c0001t0049a0002c0007t0031a0002c0011t0036others(6): Show | a0001c0001t0049g0154 a0002c0007t0031g0001 a0002c0011t0036g0160 others(6): Show |
9 | 87 | 0.1034 | -9 | c.163 others(30): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865271 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0012 a0001c0001t0003g0150 a0001c0001t0014g0210 |
3 | 224 | 0.0134 | -9 | c.163 others(28): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73212088 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01081.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0003g0304 others(14): Show |
17 | 60 | 0.2833 | -9 | c.112 others(26): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSENEN_chr19_35740651_35752519 | 35743373 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02015.hp1 HG02027.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0008 | a0001c0001t0004g0001 a0001c0001t0006g0001 a0001c0001t0008g0001 |
27 | 78 | 0.3462 | -9 | c.-24 others(20): Show |
PSENEN | ENSG00000205155.8 | transcript | ENST00000587708.7 | protein_coding | 2277 | chr19 | TogoVar | |||||||
PSG2_chr19_43059209_43087701 | 43082122 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(73): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(30): Show |
76 | 243 | 0.3128 | -9 | c.64+ others(22): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG8_chr19_42749233_42770678 | 42761820 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01071.hp1 others(14): Show |
a0003a0011a0018others(2): Show | a0003c0003a0003c0005a0011c0035others(3): Show | a0003c0003t0001a0003c0005t0001a0011c0035t0001others(3): Show | a0003c0003t0001g0024 a0003c0003t0001g0164 a0003c0003t0001g0165 others(9): Show |
17 | 140 | 0.1214 | -9 | c.430 others(26): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15486640 | TAAAGATG others(2): Show |
T | intron_variant | MODIFIER | HG00673.hp2 NA19055.hp1 NA19077.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0071 a0003c0005t0002g0073 a0003c0005t0002g0074 |
3 | 298 | 0.0101 | -9 | c.393 others(24): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 5/15 | chr9 | TogoVar | |||||||
PSMB1_chr6_170530120_170558307 | 170531229 | CAGCCCAG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02886.hp2 HG03041.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 6 | 362 | 0.0166 | -9 | c.*39 others(20): Show |
PSMB1 | ENSG00000008018.9 | transcript | ENST00000262193.7 | protein_coding | 3890 | chr6 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628593 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02145.hp2 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0002c0002t0006 | a0001c0001t0004g0244 a0001c0001t0004g0254 a0001c0001t0006g0023 others(5): Show |
10 | 269 | 0.0372 | -9 | c.285 others(26): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSMB4_chr1_151394573_151406937 | 151398423 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02630.hp2 HG02723.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0002t0001g0001 others(1): Show |
7 | 16 | 0.4375 | -9 | c.-11 others(20): Show |
PSMB4 | ENSG00000159377.11 | transcript | ENST00000290541.7 | protein_coding | 1149 | chr1 | TogoVar | |||||||
PSMB7_chr9_124348465_124420442 | 124350106 | CCTGCTGC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02922.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 a0002c0002t0001g0071 |
3 | 406 | 0.0074 | -9 | c.*34 others(20): Show |
PSMB7 | ENSG00000136930.13 | transcript | ENST00000259457.8 | protein_coding | 3358 | chr9 | TogoVar | |||||||
PSMC2_chr7_103342643_103374395 | 103359138 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02896.hp1 HG02965.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0047 others(8): Show |
16 | 27 | 0.5926 | -9 | c.291 others(26): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PSMD12_chr17_67332916_67371577 | 67361902 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0019others(1): Show | a0001c0002t0003g0297 a0001c0002t0004g0023 a0001c0002t0004g0321 others(4): Show |
8 | 396 | 0.0202 | -9 | c.109 others(26): Show |
PSMD12 | ENSG00000197170.10 | transcript | ENST00000356126.8 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
PSMD1_chr2_231051867_231177827 | 231145894 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00609.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0170 others(28): Show |
33 | 181 | 0.1823 | -9 | c.199 others(26): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |