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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSMA8_chr18_26128869_26198355 | 26180695 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(2): Show |
5 | 268 | 0.0187 | -8 | c.660 others(25): Show |
PSMA8 | ENSG00000154611.15 | transcript | ENST00000415576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PSMB1_chr6_170530120_170558307 | 170534989 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01891.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0061 a0001c0001t0001g0062 others(3): Show |
9 | 364 | 0.0247 | -8 | c.*22 others(17): Show |
PSMB1 | ENSG00000008018.9 | transcript | ENST00000262193.7 | protein_coding | 130 | chr6 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35641015 | ATCCACAT others(1): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02040.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0004g0261 a0001c0001t0004g0265 a0001c0001t0004g0274 others(28): Show |
33 | 300 | 0.1100 | -8 | c.91+ others(21): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PSMB3_chr17_38747741_38769225 | 38755680 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0022 a0001c0001t0001g0236 a0001c0001t0003g0020 others(3): Show |
10 | 431 | 0.0232 | -8 | c.189 others(23): Show |
PSMB3 | ENSG00000277791.5 | transcript | ENST00000619426.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PSMB4_chr1_151394573_151406937 | 151398423 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(90): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0002c0003t0001a0003c0005t0001 | a0001c0001t0001g0003 a0002c0003t0001g0001 a0002c0003t0001g0007 others(1): Show |
93 | 396 | 0.2349 | -8 | c.-11 others(19): Show |
PSMB4 | ENSG00000159377.11 | transcript | ENST00000290541.7 | protein_coding | 1149 | chr1 | TogoVar | |||||||
PSMB5_chr14_23020856_23039900 | 23036217 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(5): Show |
12 | 404 | 0.0297 | -8 | c.-13 others(19): Show |
PSMB5 | ENSG00000100804.19 | transcript | ENST00000361611.11 | protein_coding | 1318 | chr14 | TogoVar | |||||||
PSMB7_chr9_124348465_124420442 | 124350501 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(227): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(164): Show |
230 | 408 | 0.5637 | -8 | c.*30 others(19): Show |
PSMB7 | ENSG00000136930.13 | transcript | ENST00000259457.8 | protein_coding | 2963 | chr9 | TogoVar | |||||||
PSMC1_chr14_90251553_90280429 | 90274787 | TACACACA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0001t0047a0001c0001t0054others(6): Show | a0001c0001t0024g0003 a0001c0001t0047g0035 a0001c0001t0054g0024 others(10): Show |
17 | 390 | 0.0436 | -8 | c.*24 others(19): Show |
PSMC1 | ENSG00000100764.14 | transcript | ENST00000261303.13 | protein_coding | 11/11 | 2425 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMC2_chr7_103342643_103374395 | 103346818 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(109): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(80): Show |
112 | 382 | 0.2932 | -8 | c.-89 others(17): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 824 | chr7 | TogoVar | |||||||
PSMD12_chr17_67332916_67371577 | 67355969 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0302 a0001c0002t0005g0303 a0001c0002t0005g0304 others(3): Show |
6 | 398 | 0.0151 | -8 | c.297 others(25): Show |
PSMD12 | ENSG00000197170.10 | transcript | ENST00000356126.8 | protein_coding | 3/10 | chr17 | TogoVar | |||||||
PSMD12_chr17_67332916_67371577 | 67361873 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(52): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(47): Show |
55 | 398 | 0.1382 | -8 | c.109 others(25): Show |
PSMD12 | ENSG00000197170.10 | transcript | ENST00000356126.8 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
PSMD13_chr11_231976_257984 | 255986 | CATGGATG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(288): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(236): Show |
291 | 450 | 0.6467 | -8 | c.*33 others(19): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 3003 | chr11 | TogoVar | |||||||
PSMD13_chr11_231976_257984 | 256211 | TGGACGGA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(193): Show |
237 | 450 | 0.5267 | -8 | c.*36 others(19): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 3228 | chr11 | TogoVar | |||||||
PSMD14_chr2_161303425_161416717 | 161327946 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01261.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 others(7): Show |
10 | 268 | 0.0373 | -8 | c.48+ others(23): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD1_chr2_231051867_231177827 | 231165026 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02129.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
9 | 364 | 0.0247 | -8 | c.248 others(25): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD1_chr2_231051867_231177827 | 231165034 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01884.hp2 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0073 a0001c0001t0002g0109 |
3 | 364 | 0.0082 | -8 | c.248 others(25): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD2_chr3_184294241_184314050 | 184304478 | GTGTGTGC others(1): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0060 others(1): Show |
8 | 414 | 0.0193 | -8 | c.153 others(24): Show |
PSMD2 | ENSG00000175166.17 | transcript | ENST00000310118.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PSMD3_chr17_39975807_40002959 | 40001511 | AAAATAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 HG02965.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0003 | a0001c0001t0002g0080 a0001c0002t0001g0001 a0001c0002t0001g0167 others(2): Show |
7 | 418 | 0.0168 | -8 | c.*39 others(19): Show |
PSMD3 | ENSG00000108344.15 | transcript | ENST00000264639.9 | protein_coding | 3553 | chr17 | TogoVar | |||||||
PSMD6_chr3_64005551_64028494 | 64009903 | CTCTATCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG02486.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0067 a0001c0001t0002g0024 a0001c0001t0002g0064 others(4): Show |
10 | 426 | 0.0235 | -8 | c.*75 others(17): Show |
PSMD6 | ENSG00000163636.11 | transcript | ENST00000295901.9 | protein_coding | 647 | chr3 | TogoVar | |||||||
PSMD9_chr12_121883790_121923297 | 121912006 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG02080.hp2 others(20): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0004a0001c0001t0006a0002c0002t0002others(2): Show | a0001c0001t0004g0247 a0001c0001t0004g0297 a0001c0001t0006g0184 others(19): Show |
23 | 398 | 0.0578 | -8 | c.556 others(25): Show |
PSMD9 | ENSG00000110801.14 | transcript | ENST00000541212.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53898633 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 NA18969.hp1 NA20129.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0005 | a0001c0005t0001g0317 a0001c0005t0001g0326 a0001c0006t0005g0002 |
3 | 384 | 0.0078 | -8 | c.342 others(25): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 29/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53940944 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG02109.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0006a0001c0007a0001c0009 | a0001c0006t0005a0001c0006t0014a0001c0007t0001others(1): Show | a0001c0006t0005g0003 a0001c0006t0005g0005 a0001c0006t0014g0164 others(2): Show |
5 | 384 | 0.0130 | -8 | c.501 others(23): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 3/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53958356 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(63): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0022a0002c0003others(6): Show | a0001c0001t0001a0001c0022t0016a0002c0003t0001others(9): Show | a0001c0001t0001g0053 a0001c0022t0016g0111 a0002c0003t0001g0080 others(63): Show |
66 | 384 | 0.1719 | -8 | c.243 others(25): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 1/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53967649 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp1 HG01358.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 others(3): Show |
6 | 384 | 0.0156 | -8 | c.242 others(25): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 1/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53973855 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(116): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0007others(13): Show | a0001c0001t0001a0001c0006t0003a0001c0006t0005others(17): Show | a0001c0001t0001g0053 a0001c0001t0001g0191 a0001c0001t0001g0227 others(116): Show |
119 | 384 | 0.3099 | -8 | c.-30 others(19): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 2863 | chr2 | TogoVar | |||||||
PSMG1_chr21_39169769_39188451 | 39174092 | ACAATTCA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01175.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0004 a0001c0003t0003g0066 |
18 | 392 | 0.0459 | -8 | c.*14 others(19): Show |
PSMG1 | ENSG00000183527.12 | transcript | ENST00000331573.8 | protein_coding | 676 | chr21 | TogoVar | |||||||
PSMG2_chr18_12698042_12730740 | 12705545 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01978.hp2 HG02132.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 others(2): Show |
5 | 402 | 0.0124 | -8 | c.58- others(21): Show |
PSMG2 | ENSG00000128789.22 | transcript | ENST00000317615.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PSMG4_chr6_3253947_3273049 | 3258174 | GGGATGAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(255): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(108): Show |
258 | 412 | 0.6262 | -8 | c.-84 others(17): Show |
PSMG4 | ENSG00000180822.12 | transcript | ENST00000438998.7 | protein_coding | 772 | chr6 | TogoVar | |||||||
PSORS1C1_chr6_31109800_31145092 | 31132530 | GAATAAAT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00639.hp2 others(103): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0025 others(72): Show |
106 | 449 | 0.2361 | -8 | c.13+ others(23): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PSORS1C1_chr6_31109800_31145092 | 31140630 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(123): Show |
a0001a0008a0011 | a0001c0001a0008c0008a0011c0012 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(5): Show | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 others(78): Show |
126 | 449 | 0.2806 | -8 | c.*69 others(17): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 539 | chr6 | TogoVar | |||||||
PSORS1C2_chr6_31132534_31144066 | 31140630 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(130): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0026 others(14): Show |
133 | 461 | 0.2885 | -8 | c.-16 others(19): Show |
PSORS1C2 | ENSG00000204538.4 | transcript | ENST00000259845.5 | protein_coding | 1565 | chr6 | TogoVar | |||||||
PSPC1_chr13_19697500_19787945 | 19728439 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG03491.hp2 HG03492.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0009 others(2): Show |
6 | 258 | 0.0233 | -8 | c.115 others(27): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 6/8 | chr13 | TogoVar | |||||||
PSPC1_chr13_19697500_19787945 | 19730949 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01106.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0145 others(15): Show |
18 | 258 | 0.0698 | -8 | c.105 others(25): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
PSPH_chr7_56006064_56056444 | 56037706 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 others(39): Show |
45 | 392 | 0.1148 | -8 | c.-29 others(27): Show |
PSPH | ENSG00000146733.14 | transcript | ENST00000275605.8 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
PSTPIP2_chr18_45978536_46077260 | 45981553 | TTTTGTTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01169.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0001t0002g0034 a0001c0001t0002g0157 a0002c0002t0002g0017 others(16): Show |
19 | 316 | 0.0601 | -8 | c.*38 others(19): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 1982 | chr18 | TogoVar | |||||||
PSTPIP2_chr18_45978536_46077260 | 46006360 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01516.hp1 HG01517.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005a0002c0002t0006others(2): Show | a0001c0001t0001g0021 a0002c0002t0005g0002 a0002c0002t0005g0133 others(13): Show |
17 | 316 | 0.0538 | -8 | c.355 others(23): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 5/14 | chr18 | TogoVar | |||||||
PSTPIP2_chr18_45978536_46077260 | 46027297 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02486.hp2 HG02647.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0138 others(18): Show |
22 | 316 | 0.0696 | -8 | c.135 others(25): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 2/14 | chr18 | TogoVar | |||||||
PSTPIP2_chr18_45978536_46077260 | 46036099 | TATTAATT others(1): Show |
T | intron_variant | MODIFIER | HG02004.hp1 HG02129.hp1 NA18947.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0113 a0001c0005t0001g0114 a0001c0005t0001g0115 others(4): Show |
7 | 316 | 0.0222 | -8 | c.134 others(25): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 2/14 | chr18 | TogoVar | |||||||
PSTPIP2_chr18_45978536_46077260 | 46045671 | GTAAATAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(80): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 others(79): Show |
83 | 316 | 0.2627 | -8 | c.34- others(23): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 1/14 | chr18 | TogoVar | |||||||
PSTPIP2_chr18_45978536_46077260 | 46049008 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(52): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0013others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0040 others(51): Show |
55 | 316 | 0.1741 | -8 | c.34- others(23): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 1/14 | chr18 | TogoVar | |||||||
PTBP2_chr1_96716784_96820049 | 96746817 | TTGTCTGT others(1): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp2 HG03041.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0146 a0001c0002t0005g0002 a0001c0002t0005g0249 others(5): Show |
9 | 364 | 0.0247 | -8 | c.40- others(23): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96746867 | GTCTGTCC others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0254 a0001c0002t0005g0255 a0001c0002t0005g0256 others(2): Show |
5 | 364 | 0.0137 | -8 | c.40- others(23): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96746913 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp2 HG02970.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(1): Show | a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0176 others(12): Show |
16 | 364 | 0.0440 | -8 | c.40- others(23): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96761346 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(61): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0008a0001c0003t0001 | a0001c0002t0001g0004 a0001c0002t0001g0261 a0001c0002t0001g0263 others(61): Show |
64 | 364 | 0.1758 | -8 | c.116 others(25): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP2_chr1_96716784_96820049 | 96765708 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 a0001c0002t0005g0249 a0001c0002t0005g0251 others(2): Show |
6 | 364 | 0.0165 | -8 | c.116 others(25): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112233272 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01168.hp1 HG01175.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0257 a0001c0001t0003g0059 a0001c0001t0003g0068 others(36): Show |
39 | 342 | 0.1140 | -8 | c.881 others(25): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 8/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112239831 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG00741.hp2 others(20): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0244 others(20): Show |
23 | 342 | 0.0673 | -8 | c.803 others(25): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 7/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112247268 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00597.hp1 others(122): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0151 a0001c0001t0001g0253 a0001c0001t0001g0294 others(122): Show |
125 | 342 | 0.3655 | -8 | c.802 others(25): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 7/13 | chr9 | TogoVar | |||||||
PTBP3_chr9_112213435_112338619 | 112335271 | GTTTGTTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(102): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0103 a0001c0001t0001g0160 a0001c0001t0001g0270 others(102): Show |
105 | 342 | 0.3070 | -8 | c.-18 others(19): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1653 | chr9 | TogoVar | |||||||
PTCD1_chr7_99411739_99443798 | 99432269 | CGTCCCTG others(1): Show |
C | intron_variant | MODIFIER | HG02004.hp1 NA18945.hp1 NA19003.hp2 others(1): Show |
a0001a0012 | a0001c0001a0012c0019 | a0001c0001t0001a0012c0019t0001 | a0001c0001t0001g0072 a0001c0001t0001g0125 a0001c0001t0001g0127 others(1): Show |
4 | 380 | 0.0105 | -8 | c.594 others(25): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 3/7 | chr7 | TogoVar |