| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PRICKLE1_chr12_42451757_42594746 | 42560103 | AATTATTA others(20): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02698.hp1 NA18940.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0011a0001c0001t0022a0003c0006t0031 | a0001c0001t0011g0292a0001c0001t0011g0294a0001c0001t0011g0295others(7): Show | 10 | 300 | 0.0333 | -27 | c.-49 others(46): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| PRICKLE2_chr3_64087236_64230466 | 64219216 | ATTCTGAA others(20): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 340 | 0.0029 | -27 | c.-41 others(44): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
| PRKACA_chr19_14086688_14122762 | 14109958 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 | 1 | 358 | 0.0028 | -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 | a0001c0001t0002g0311 | 1 | 358 | 0.0028 | -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 | a0001c0001t0003g0056 | 1 | 252 | 0.0040 | -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 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 178 | 0.0056 | -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 |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0021others(16): Show | a0001c0001t0003g0045a0001c0001t0007g0008a0001c0001t0021g0089others(16): Show | 19 | 178 | 0.1067 | -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 | a0001c0001t0007g0029a0001c0001t0043g0013a0001c0003t0005g0082 | 3 | 178 | 0.0169 | -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 | a0001c0001t0028g0141 | 1 | 178 | 0.0056 | -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 | a0001c0002t0006a0001c0002t0010a0001c0002t0011others(5): Show | a0001c0002t0006g0036a0001c0002t0006g0083a0001c0002t0010g0057others(7): Show | 10 | 178 | 0.0562 | -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 | a0001c0001t0010g0053a0001c0002t0002g0017a0001c0002t0055g0114others(4): Show | 7 | 148 | 0.0473 | -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 | 148 | 0.0068 | -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 | a0001c0001t0081g0081 | 1 | 148 | 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 | a0001c0001t0001g0076a0001c0001t0002g0049a0001c0001t0009g0028others(2): Show | 5 | 168 | 0.0298 | -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 | a0001c0001t0001g0325a0001c0001t0001g0327a0001c0002t0001g0045 | 3 | 362 | 0.0083 | -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 | a0001c0003t0005g0206 | 1 | 362 | 0.0028 | -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 | a0001c0002t0001g0208a0001c0002t0001g0271 | 2 | 286 | 0.0070 | -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 | a0001c0001t0001g0086a0001c0001t0001g0248a0001c0001t0002g0033others(1): Show | 4 | 286 | 0.0140 | -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 | a0001c0002t0001g0206a0001c0002t0001g0216a0001c0002t0001g0218others(5): Show | 8 | 286 | 0.0280 | -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 | a0001c0001t0001g0119a0001c0001t0001g0240a0001c0002t0009g0286 | 3 | 286 | 0.0105 | -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 | a0001c0001t0007g0371a0001c0001t0007g0372a0001c0001t0007g0373others(30): Show | 33 | 388 | 0.0851 | -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 | a0001c0001t0002g0005a0001c0001t0005g0064 | 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(10): Show | a0001c0001t0001g0017a0001c0001t0002g0005a0001c0001t0002g0007others(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 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0003g0022a0001c0001t0007g0020a0001c0001t0008g0010others(2): Show | 5 | 32 | 0.1563 | -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 | a0001c0001t0002g0082a0001c0001t0002g0085a0001c0001t0002g0086 | 3 | 227 | 0.0132 | -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 | 456 | 0.0022 | -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 | 348 | 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 | a0001c0001t0001g0062 | 1 | 227 | 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 | a0001c0001t0001g0050a0001c0002t0002g0053a0001c0002t0002g0075others(3): Show | 12 | 426 | 0.0282 | -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 | a0001c0001t0002g0041a0001c0001t0002g0095a0001c0001t0002g0134others(4): Show | 7 | 392 | 0.0179 | -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 | 432 | 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 | 432 | 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 | 406 | 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 | a0001c0001a0001c0003a0001c0013others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(13): Show | a0001c0001t0001g0048a0001c0001t0001g0187a0001c0001t0001g0188others(18): Show | 21 | 272 | 0.0772 | -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 | a0002c0003t0002g0417 | 1 | 442 | 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 | a0001c0001t0004g0052 | 1 | 340 | 0.0029 | -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 | 336 | 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 | a0001c0001t0037a0001c0001t0041a0001c0001t0133others(4): Show | a0001c0001t0037g0001a0001c0001t0041g0005a0001c0001t0133g0001others(4): Show | 9 | 336 | 0.0268 | -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 | a0001c0001t0145a0001c0001t0171 | a0001c0001t0145g0001a0001c0001t0171g0005 | 2 | 336 | 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 | a0001c0001t0009g0287a0001c0001t0009g0289a0001c0001t0009g0290 | 3 | 358 | 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 | a0001c0001t0090 | a0001c0001t0090g0139 | 1 | 284 | 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 homoSapiens_chm13v2.hp1 |
a0004 | a0004c0006a0004c0021 | a0004c0006t0005a0004c0006t0008a0004c0021t0001 | a0004c0006t0005g0034a0004c0006t0008g0035a0004c0021t0001g0112 | 3 | 228 | 0.0132 | -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 | a0004c0006t0083g0225 | 1 | 228 | 0.0044 | -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 | a0001c0001t0003g0126a0001c0001t0003g0199a0001c0001t0003g0216 | 3 | 378 | 0.0079 | -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 | a0001c0001t0003g0108a0001c0001t0003g0194a0001c0001t0003g0208others(13): Show | 16 | 378 | 0.0423 | -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 | a0001c0001t0003g0204a0001c0001t0003g0224a0001c0001t0009g0198others(1): Show | 4 | 378 | 0.0106 | -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 | 73202442 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0197 | 1 | 378 | 0.0027 | -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 | a0001c0006t0004g0154a0006c0007t0005g0160 | 2 | 400 | 0.0050 | -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 | a0002c0002t0003g0021a0002c0002t0003g0162a0002c0002t0003g0163others(1): Show | 6 | 300 | 0.0200 | -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 | a0001c0001t0001g0059a0001c0001t0010g0060 | 2 | 212 | 0.0094 | -27 | c.-35 others(36): Show |
PSG9 | ENSG00000183668.18 | transcript | ENST00000270077.8 | protein_coding | 230 | chr19 | TogoVar |