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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSMB9_chr6_32849192_32864851 | 32863924 | CTGAGATC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(170): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0033others(35): Show | 173 | 455 | 0.3802 | -10 | c.*43 others(21): Show |
PSMB9 | ENSG00000240065.8 | transcript | ENST00000374859.3 | protein_coding | 4074 | chr6 | TogoVar | ||||||
PSMC1_chr14_90251553_90280429 | 90274787 | TACACACA others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01168.hp2 HG02300.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0046a0001c0002t0088 | a0001c0001t0025g0003a0001c0001t0025g0108a0001c0002t0046g0091others(2): Show | 6 | 390 | 0.0154 | -10 | c.*24 others(21): Show |
PSMC1 | ENSG00000100764.14 | transcript | ENST00000261303.13 | protein_coding | 11/11 | 2423 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
PSMC2_chr7_103342643_103374395 | 103346818 | ATGTGTGT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 382 | 0.0026 | -10 | c.-89 others(19): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 824 | chr7 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103359138 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0282 | 2 | 382 | 0.0052 | -10 | c.291 others(27): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PSMC3IP_chr17_42567310_42582729 | 42577750 | CCGGCGAC others(3): Show |
C | upstream_gene_variant | MODIFIER | NA18992.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0057 | 1 | 388 | 0.0026 | -10 | c.-74 others(17): Show |
PSMC3IP | ENSG00000131470.15 | transcript | ENST00000393795.8 | protein_coding | 22 | chr17 | TogoVar | ||||||
PSMC6_chr14_52702200_52733590 | 52714865 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 398 | 0.0025 | -10 | c.529 others(25): Show |
PSMC6 | ENSG00000100519.12 | transcript | ENST00000445930.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMC6_chr14_52702200_52733590 | 52720367 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03669.hp1 HG04184.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0206a0001c0002t0001g0037a0001c0002t0001g0111others(4): Show | 8 | 398 | 0.0201 | -10 | c.778 others(25): Show |
PSMC6 | ENSG00000100519.12 | transcript | ENST00000445930.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMD11_chr17_32439510_32488319 | 32476826 | ATGATCTT others(3): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 290 | 0.0035 | -10 | c.850 others(25): Show |
PSMD11 | ENSG00000108671.11 | transcript | ENST00000261712.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PSMD11_chr17_32439510_32488319 | 32485022 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 290 | 0.0035 | -10 | c.*42 others(21): Show |
PSMD11 | ENSG00000108671.11 | transcript | ENST00000261712.8 | protein_coding | 1704 | chr17 | TogoVar | ||||||
PSMD12_chr17_67332916_67371577 | 67361901 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(28): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(5): Show | a0001c0002t0003g0358a0001c0002t0004g0007a0001c0002t0004g0008others(24): Show | 31 | 398 | 0.0779 | -10 | c.109 others(27): Show |
PSMD12 | ENSG00000197170.10 | transcript | ENST00000356126.8 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
PSMD13_chr11_231976_257984 | 240101 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0285 | 1 | 450 | 0.0022 | -10 | c.174 others(27): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD13_chr11_231976_257984 | 244490 | ATACCTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(361): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(293): Show | 364 | 450 | 0.8089 | -10 | c.309 others(23): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD13_chr11_231976_257984 | 245641 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0127a0001c0001t0007g0169 | 2 | 450 | 0.0044 | -10 | c.396 others(25): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD13_chr11_231976_257984 | 245695 | CGTGTGTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0061others(159): Show | 207 | 450 | 0.4600 | -10 | c.396 others(25): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD13_chr11_231976_257984 | 257883 | CTGGCTCA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0376a0001c0001t0006g0377 | 2 | 450 | 0.0044 | -10 | c.*52 others(21): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 4900 | chr11 | TogoVar | ||||||
PSMD13_chr11_231976_257984 | 257898 | TCATCCTG others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(208): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(182): Show | 211 | 450 | 0.4689 | -10 | c.*52 others(21): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 4915 | chr11 | TogoVar | ||||||
PSMD14_chr2_161303425_161416717 | 161327975 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | NA18950.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102a0001c0001t0002g0103 | 2 | 268 | 0.0075 | -10 | c.48+ others(25): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD14_chr2_161303425_161416717 | 161414098 | ACAAAAGT others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 268 | 0.0037 | -10 | c.*26 others(21): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 2382 | chr2 | TogoVar | ||||||
PSMD1_chr2_231051867_231177827 | 231087777 | ACGGTGAA others(3): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 364 | 0.0028 | -10 | c.188 others(27): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD1_chr2_231051867_231177827 | 231143187 | GGGTTTGG others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0022a0001c0001t0001g0248a0001c0001t0001g0249others(38): Show | 43 | 364 | 0.1181 | -10 | c.199 others(29): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD1_chr2_231051867_231177827 | 231165021 | GATTTATA others(3): Show |
G | intron_variant | MODIFIER | HG02027.hp2 HG03195.hp2 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0168others(1): Show | 6 | 364 | 0.0165 | -10 | c.248 others(27): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD1_chr2_231051867_231177827 | 231165034 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029a0001c0001t0002g0067 | 2 | 364 | 0.0055 | -10 | c.248 others(27): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD1_chr2_231051867_231177827 | 231176642 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03130.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0023a0001c0002t0004g0024a0001c0002t0004g0025others(1): Show | 4 | 364 | 0.0110 | -10 | c.*41 others(21): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 3816 | chr2 | TogoVar | ||||||
PSMD3_chr17_39975807_40002959 | 39984199 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 418 | 0.0024 | -10 | c.221 others(23): Show |
PSMD3 | ENSG00000108344.15 | transcript | ENST00000264639.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PSMD4_chr1_151249734_151272479 | 151256353 | AAAATAAT others(3): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 420 | 0.0024 | -10 | c.26+ others(25): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PSMD5_chr9_120811053_120847922 | 120813370 | AGTGTGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0007 | a0001c0007t0011 | a0001c0007t0011g0041 | 1 | 356 | 0.0028 | -10 | c.*45 others(21): Show |
PSMD5 | ENSG00000095261.14 | transcript | ENST00000210313.8 | protein_coding | 2682 | chr9 | TogoVar | ||||||
PSMD6_chr3_64005551_64028494 | 64025960 | GAATTTGA others(3): Show |
G | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 426 | 0.0024 | -10 | c.-25 others(21): Show |
PSMD6 | ENSG00000163636.11 | transcript | ENST00000295901.9 | protein_coding | 2467 | chr3 | TogoVar | ||||||
PSMD8_chr19_38369571_38388824 | 38377742 | GCCTCAGC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(60): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0013others(23): Show | 63 | 424 | 0.1486 | -10 | c.536 others(27): Show |
PSMD8 | ENSG00000099341.13 | transcript | ENST00000215071.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PSMD9_chr12_121883790_121923297 | 121918260 | GACCTGGA others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0004a0001c0001t0011g0136 | 4 | 398 | 0.0101 | -10 | c.*19 others(21): Show |
PSMD9 | ENSG00000110801.14 | transcript | ENST00000541212.6 | protein_coding | 6/6 | 1950 | chr12 | TogoVar | |||||
PSME3IP1_chr16_57147466_57191039 | 57189588 | CTTTTCTT others(3): Show |
C | upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 364 | 0.0028 | -10 | c.-37 others(21): Show |
PSME3IP1 | ENSG00000172775.18 | transcript | ENST00000309137.13 | protein_coding | 3550 | chr16 | TogoVar | ||||||
PSME3_chr17_42828397_42848760 | 42848536 | TATATATA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0067 | 1 | 264 | 0.0038 | -10 | c.*69 others(21): Show |
PSME3 | ENSG00000131467.12 | transcript | ENST00000590720.6 | protein_coding | 4777 | chr17 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53872741 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(63): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0009a0002c0003others(6): Show | a0001c0005t0001a0001c0005t0007a0001c0005t0009others(8): Show | a0001c0005t0001g0182a0001c0005t0001g0311a0001c0005t0001g0313others(63): Show | 66 | 384 | 0.1719 | -10 | c.510 others(29): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 43/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53898633 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG03098.hp1 |
a0001a0010 | a0001c0009a0010c0026 | a0001c0009t0001a0010c0026t0001 | a0001c0009t0001g0369a0010c0026t0001g0013 | 2 | 384 | 0.0052 | -10 | c.342 others(27): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 29/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53923913 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp1 others(23): Show |
a0001a0004 | a0001c0005a0004c0008 | a0001c0005t0001a0001c0005t0007a0004c0008t0001 | a0001c0005t0001g0313a0001c0005t0001g0314a0001c0005t0001g0315others(23): Show | 26 | 384 | 0.0677 | -10 | c.181 others(27): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 14/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53933375 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(129): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0022a0002c0002others(13): Show | a0001c0001t0001a0001c0022t0016a0002c0002t0002others(20): Show | a0001c0001t0001g0053a0001c0001t0001g0225a0001c0022t0016g0111others(129): Show | 132 | 384 | 0.3438 | -10 | c.958 others(25): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 8/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53940942 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01106.hp1 others(18): Show |
a0001a0009a0011others(1): Show | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0001a0001c0006t0003a0001c0009t0001others(3): Show | a0001c0001t0001g0173a0001c0006t0003g0025a0001c0006t0003g0026others(18): Show | 21 | 384 | 0.0547 | -10 | c.501 others(25): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 3/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53973855 | ATGTGTGT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01081.hp2 others(40): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0006a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0003others(12): Show | a0001c0001t0001g0173a0001c0001t0001g0189a0001c0001t0001g0235others(40): Show | 43 | 384 | 0.1120 | -10 | c.-30 others(21): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 2863 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53973893 | GTGTGTGT others(3): Show |
G | upstream_gene_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0301 | 1 | 384 | 0.0026 | -10 | c.-31 others(21): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 2901 | chr2 | TogoVar | ||||||
PSMG2_chr18_12698042_12730740 | 12723390 | CTAGATAT others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047a0001c0002t0002g0207a0001c0002t0002g0208others(2): Show | 6 | 402 | 0.0149 | -10 | c.582 others(27): Show |
PSMG2 | ENSG00000128789.22 | transcript | ENST00000317615.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PSMG3_chr7_1562332_1575032 | 1570731 | GTTTTTTG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | -10 | c.-14 others(21): Show |
PSMG3 | ENSG00000157778.9 | transcript | ENST00000288607.3 | protein_coding | 700 | chr7 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19728437 | TAAACACA others(3): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0037 | 1 | 258 | 0.0039 | -10 | c.115 others(29): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 6/8 | chr13 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19728439 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0033 | 1 | 258 | 0.0039 | -10 | c.115 others(29): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 6/8 | chr13 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19730955 | AACAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01255.hp1 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0130a0001c0001t0001g0163a0001c0001t0001g0168others(16): Show | 20 | 258 | 0.0775 | -10 | c.105 others(27): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19765696 | TTACAAAT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00733.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0038a0001c0001t0002g0051a0001c0001t0002g0052others(26): Show | 29 | 258 | 0.1124 | -10 | c.675 others(27): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 2/8 | chr13 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19783255 | ATTTTGTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058a0001c0001t0002g0072 | 2 | 258 | 0.0078 | -10 | c.-50 others(19): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 311 | chr13 | TogoVar | ||||||
PSPH_chr7_56006064_56056444 | 56013156 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02056.hp2 HG02258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0013 | a0001c0001t0003g0280a0001c0001t0003g0341a0001c0001t0003g0342others(12): Show | 15 | 392 | 0.0383 | -10 | c.571 others(27): Show |
PSPH | ENSG00000146733.14 | transcript | ENST00000275605.8 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
PSTK_chr10_122975401_122995390 | 122980723 | CGCGGGGC others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0059a0002c0004t0001g0005a0002c0004t0001g0009others(6): Show | 31 | 416 | 0.0745 | -10 | c.216 others(23): Show |
PSTK | ENSG00000179988.15 | transcript | ENST00000406217.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PSTPIP2_chr18_45978536_46077260 | 46006360 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG01168.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0219a0001c0001t0001g0231a0001c0001t0001g0254others(5): Show | 9 | 316 | 0.0285 | -10 | c.355 others(25): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 5/14 | chr18 | TogoVar | ||||||
PSTPIP2_chr18_45978536_46077260 | 46049007 | CATGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 | 1 | 316 | 0.0032 | -10 | c.34- others(25): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 1/14 | chr18 | TogoVar | ||||||
PSTPIP2_chr18_45978536_46077260 | 46049008 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0016others(39): Show | 42 | 316 | 0.1329 | -10 | c.34- others(25): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 1/14 | chr18 | TogoVar |