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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRKACA_chr19_14086688_14122762 | 14109958 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 320 | 0.0031 | -27 | c.47- others(42): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PRKACA_chr19_14086688_14122762 | 14109960 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 346 | 0.0029 | -27 | c.47- others(42): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855396 | CCACACAC others(20): Show |
C | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 240 | 0.0042 | -27 | c.114 others(46): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66302332 | GGCCGCCG others(20): Show |
G | upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 2 | 0.5000 | -27 | c.-51 others(36): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 280 | chr17 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66336634 | TTATATAG others(20): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG01884.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0021others(16): Show | a0001c0001t0004g0045 a0001c0001t0007g0006 a0001c0001t0021g0089 others(16): Show |
19 | 143 | 0.1329 | -27 | c.205 others(46): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66798462 | TGGTGGTG others(20): Show |
T | intron_variant | MODIFIER | HG02004.hp2 HG02083.hp2 NA18993.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0043a0001c0003t0005 | a0001c0001t0007g0029 a0001c0001t0043g0013 a0001c0003t0005g0081 |
3 | 167 | 0.0180 | -27 | c.185 others(46): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799079 | GTGGTGGT others(20): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0140 | 1 | 155 | 0.0065 | -27 | c.185 others(46): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799529 | ATGGTGGT others(20): Show |
A | intron_variant | MODIFIER | HG02148.hp2 HG02647.hp1 HG02895.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0006a0001c0002t0010a0001c0002t0014others(5): Show | a0001c0002t0006g0036 a0001c0002t0006g0083 a0001c0002t0010g0057 others(7): Show |
10 | 122 | 0.0820 | -27 | c.185 others(46): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23866951 | TCTTCCTT others(20): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03098.hp2 HG03540.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0010a0001c0002t0002a0001c0002t0055others(4): Show | a0001c0001t0010g0053 a0001c0002t0002g0017 a0001c0002t0055g0115 others(4): Show |
7 | 140 | 0.0500 | -27 | c.205 others(46): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23879482 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0140 | 1 | 3 | 0.3333 | -27 | c.205 others(46): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24011010 | ATGTGCCG others(20): Show |
A | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0085 | 1 | 146 | 0.0068 | -27 | c.289 others(46): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 3/16 | chr16 | TogoVar | |||||||
PRKCE_chr2_45646675_46192990 | 45744499 | CTTTTCTT others(20): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0151 a0001c0001t0002g0047 a0001c0001t0009g0033 others(2): Show |
5 | 162 | 0.0309 | -27 | c.348 others(46): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53878635 | AAAAAAAA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03516.hp1 NA19076.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0318 a0001c0002t0001g0052 |
3 | 331 | 0.0091 | -27 | c.-38 others(38): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3561 | chr19 | TogoVar | |||||||
PRKCG_chr19_53877197_53912652 | 53878637 | AAAAAAAA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0205 | 1 | 348 | 0.0029 | -27 | c.-38 others(38): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3559 | chr19 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2122156 | GGTGGTTA others(20): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG03831.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 a0001c0002t0001g0268 |
2 | 253 | 0.0079 | -27 | c.335 others(46): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122168 | CGTGGTGG others(20): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02004.hp2 HG04115.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0086 a0001c0001t0001g0248 a0001c0001t0002g0033 others(1): Show |
4 | 199 | 0.0201 | -27 | c.335 others(46): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122685 | GGTGGTTA others(20): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01256.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0206 a0001c0002t0001g0216 a0001c0002t0001g0218 others(5): Show |
8 | 255 | 0.0314 | -27 | c.335 others(46): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123460 | GGTGGTTA others(20): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG02976.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0119 a0001c0001t0001g0240 a0001c0002t0009g0286 |
3 | 239 | 0.0126 | -27 | c.335 others(46): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKD3_chr2_37245502_37329833 | 37317453 | TCAATGAA others(20): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01069.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0017 | a0001c0001t0007a0001c0003t0006a0001c0003t0008others(3): Show | a0001c0001t0007g0371 a0001c0001t0007g0372 a0001c0001t0007g0373 others(30): Show |
33 | 386 | 0.0855 | -27 | c.-65 others(44): Show |
PRKD3 | ENSG00000115825.11 | transcript | ENST00000234179.8 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51697545 | CAGAAAGA others(20): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0004 a0001c0001t0005g0064 |
2 | 64 | 0.0313 | -27 | c.593 others(48): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161710841 | TTTCCTTC others(20): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01884.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0017 others(12): Show |
15 | 32 | 0.4688 | -27 | c.871 others(46): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161821719 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02897.hp1 HG03041.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0022 a0001c0001t0006g0010 a0001c0001t0008g0020 others(2): Show |
5 | 7 | 0.7143 | -27 | c.735 others(46): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3652807 | TGATCCAA others(20): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 |
3 | 225 | 0.0133 | -27 | c.599 others(44): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PROK1_chr1_110446149_110462358 | 110458039 | CTTTTTTT others(20): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0038 | 1 | 155 | 0.0065 | -27 | c.*16 others(38): Show |
PROK1 | ENSG00000143125.6 | transcript | ENST00000271331.4 | protein_coding | 682 | chr1 | TogoVar | |||||||
PROSER2_chr10_11818356_11877277 | 11840938 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG01517.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0187 | 1 | 344 | 0.0029 | -27 | c.-81 others(46): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54127701 | ACTGTCGT others(20): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 226 | 0.0044 | -27 | c.946 others(42): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRPF4_chr9_113270658_113297905 | 113285343 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02135.hp2 HG02622.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0050 a0001c0002t0002g0053 a0001c0002t0002g0075 others(3): Show |
12 | 14 | 0.8571 | -27 | c.750 others(42): Show |
PRPF4 | ENSG00000136875.13 | transcript | ENST00000374198.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRPH2_chr6_42691598_42727597 | 42705582 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0002t0016a0001c0008t0002 | a0001c0001t0002g0063 a0001c0001t0002g0106 a0001c0001t0002g0136 others(4): Show |
7 | 385 | 0.0182 | -27 | c.582 others(42): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127285285 | CCTAAGCC others(20): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 430 | 0.0023 | -27 | c.53- others(40): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127285772 | TCAGAGGA others(20): Show |
T | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 430 | 0.0023 | -27 | c.53- others(42): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PRR29_chr17_63993351_64009305 | 63993629 | CTCTTAAC others(20): Show |
C | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 404 | 0.0025 | -27 | c.-47 others(38): Show |
PRR29 | ENSG00000224383.8 | transcript | ENST00000412177.6 | protein_coding | 4721 | chr17 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36334904 | TACTTCCA others(20): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01255.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(13): Show | a0001c0001t0001g0048 a0001c0001t0001g0187 a0001c0001t0001g0188 others(18): Show |
21 | 270 | 0.0778 | -27 | c.-12 others(48): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5_chr22_44697204_44742681 | 44712706 | GCAGCATC others(20): Show |
G | intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0415 | 1 | 440 | 0.0023 | -27 | c.135 others(44): Show |
PRR5 | ENSG00000186654.21 | transcript | ENST00000336985.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRRC1_chr5_127512640_127560085 | 127557325 | TAAAAAAA others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 338 | 0.0030 | -27 | c.*54 others(38): Show |
PRRC1 | ENSG00000164244.21 | transcript | ENST00000296666.13 | protein_coding | 2241 | chr5 | TogoVar | |||||||
PRRC2C_chr1_171480530_171598511 | 171595001 | ATGGATAA others(20): Show |
A | downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0134 | 1 | 334 | 0.0030 | -27 | c.*31 others(38): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 1491 | chr1 | TogoVar | |||||||
PRRG3_chrX_151690458_151710924 | 151703856 | GGTTTTTT others(20): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG01516.hp1 HG01517.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0022others(2): Show | a0001c0001t0001g0001 a0001c0001t0009g0002 a0001c0001t0009g0005 others(3): Show |
9 | 176 | 0.0511 | -27 | c.*28 others(38): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2824 | chrX | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151703889 | TTTTTTTT others(20): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01496.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0001 a0001c0001t0026g0005 |
2 | 334 | 0.0060 | -27 | c.*28 others(38): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 4/4 | 2858 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PRRX2_chr9_129660647_129727674 | 129720243 | AGCCTCTC others(20): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0282 a0001c0001t0009g0284 a0001c0001t0009g0285 |
3 | 356 | 0.0084 | -27 | c.448 others(42): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRTG_chr15_55606544_55748152 | 55640688 | CTTAAATA others(20): Show |
C | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0140 | 1 | 282 | 0.0035 | -27 | c.213 others(44): Show |
PRTG | ENSG00000166450.13 | transcript | ENST00000389286.9 | protein_coding | 12/19 | chr15 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865262 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02257.hp2 |
a0004 | a0004c0006a0004c0021 | a0004c0006t0005a0004c0021t0001 | a0004c0006t0005g0009 a0004c0021t0001g0100 |
2 | 224 | 0.0089 | -27 | c.163 others(46): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865264 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0004 | a0004c0006 | a0004c0006t0083 | a0004c0006t0083g0226 | 1 | 222 | 0.0045 | -27 | c.163 others(46): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202436 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02698.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 a0001c0001t0003g0198 a0001c0001t0003g0217 |
3 | 367 | 0.0082 | -27 | c.869 others(44): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202438 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01433.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0031 | a0001c0001t0003g0107 a0001c0001t0003g0193 a0001c0001t0003g0206 others(13): Show |
16 | 349 | 0.0458 | -27 | c.869 others(44): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202440 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 NA18939.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0203 a0001c0001t0003g0223 a0001c0001t0009g0197 others(1): Show |
4 | 373 | 0.0107 | -27 | c.869 others(44): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSG11_chr19_43002656_43031469 | 43025916 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG02886.hp1 NA20300.hp2 |
a0001a0006 | a0001c0006a0006c0007 | a0001c0006t0004a0006c0007t0005 | a0001c0006t0004g0153 a0006c0007t0005g0159 |
2 | 192 | 0.0104 | -27 | c.64+ others(40): Show |
PSG11 | ENSG00000243130.8 | transcript | ENST00000320078.12 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG4_chr19_43187702_43210638 | 43205079 | CCTTTTCT others(20): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01928.hp1 NA18948.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0020 a0002c0002t0003g0160 a0002c0002t0003g0161 others(1): Show |
6 | 262 | 0.0229 | -27 | c.64+ others(40): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG9_chr19_43248282_43274530 | 43269759 | CACACACA others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02886.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0059 a0001c0001t0010g0060 |
2 | 210 | 0.0095 | -27 | c.-35 others(36): Show |
PSG9 | ENSG00000183668.18 | transcript | ENST00000270077.8 | protein_coding | 230 | chr19 | TogoVar | |||||||
PSKH1_chr16_67888254_67934676 | 67933981 | TTCACGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 228 | 0.0044 | -27 | c.*63 others(38): Show |
PSKH1 | ENSG00000159792.10 | transcript | ENST00000291041.6 | protein_coding | 4306 | chr16 | TogoVar | |||||||
PSKH2_chr8_86042109_86074668 | 86049718 | GAAAGAAA others(20): Show |
G | intron_variant | MODIFIER | HG01943.hp1 HG02273.hp2 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0081 a0001c0001t0001g0092 |
4 | 414 | 0.0097 | -27 | c.853 others(42): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35595886 | CTGTTACC others(20): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01255.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0034 a0001c0001t0005g0032 a0001c0001t0005g0033 |
3 | 298 | 0.0101 | -27 | c.*73 others(38): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3654 | chr1 | TogoVar |