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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLCL2_chr3_16879955_17095604 | 17085738 | CATGCCCG others(47): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 250 | 0.0040 | -54 | c.320 others(73): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 287606 | AGATATAG others(47): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(67): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0046others(65): Show | 70 | 176 | 0.3977 | -54 | c.128 others(71): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PLD1_chr3_171595404_171815483 | 171764870 | AGAAAGAA others(47): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0014 | a0006c0014t0011 | a0006c0014t0011g0180 | 1 | 294 | 0.0034 | -54 | c.-31 others(73): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764883 | GAAAGAAA others(47): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0062 | 1 | 294 | 0.0034 | -54 | c.-31 others(73): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLEC_chr8_143910153_143978529 | 143955248 | AGGTGGAC others(47): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0026 | a0026c0068 | a0026c0068t0001 | a0026c0068t0001g0265 | 1 | 302 | 0.0033 | -54 | c.71- others(71): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 1/31 | chr8 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165152 | ACACTAAT others(47): Show |
A | intron_variant | MODIFIER | HG02818.hp2 NA18906.hp1 |
a0014a0021 | a0014c0027a0021c0026 | a0014c0027t0049a0021c0026t0060 | a0014c0027t0049g0171a0021c0026t0060g0169 | 2 | 210 | 0.0095 | -54 | c.347 others(73): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165243 | TGCTCTGA others(47): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0039 | a0039c0062 | a0039c0062t0010 | a0039c0062t0010g0165 | 1 | 210 | 0.0048 | -54 | c.347 others(73): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 166481 | CGGGGCGG others(47): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0005 | a0002c0005t0070 | a0002c0005t0070g0100 | 1 | 210 | 0.0048 | -54 | c.347 others(73): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | chr5 | TogoVar | ||||||
PLK3_chr1_44795377_44810990 | 44796029 | TATATATA others(47): Show |
T | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG01884.hp1 others(25): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(7): Show | 28 | 384 | 0.0729 | -54 | c.-44 others(65): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4347 | chr1 | TogoVar | ||||||
PLLP_chr16_57251097_57289672 | 57277185 | ACTGAGAG others(47): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 370 | 0.0027 | -54 | c.135 others(71): Show |
PLLP | ENSG00000102934.10 | transcript | ENST00000219207.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126483 | AACACACA others(47): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02080.hp1 HG03654.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0012a0001c0001t0014a0001c0001t0068others(11): Show | a0001c0001t0012g0028a0001c0001t0012g0176a0001c0001t0014g0019others(12): Show | 15 | 180 | 0.0833 | -54 | c.542 others(73): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXDC2_chr10_19811432_20294856 | 20126719 | CACGTTAT others(47): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01109.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0012a0001c0001t0014a0001c0001t0017others(33): Show | a0001c0001t0012g0028a0001c0001t0012g0176a0001c0001t0014g0019others(37): Show | 40 | 180 | 0.2222 | -54 | c.542 others(73): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | chr10 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94177149 | GTATATAT others(47): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0043 | a0001c0043t0001 | a0001c0043t0001g0173 | 1 | 298 | 0.0034 | -54 | c.120 others(73): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PNCK_chrX_153664733_153678813 | 153677860 | GTATATAT others(47): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0003g0052 | 3 | 276 | 0.0109 | -54 | c.-41 others(65): Show |
PNCK | ENSG00000130822.16 | transcript | ENST00000340888.8 | protein_coding | 4048 | chrX | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153398131 | GCTCCTGC others(47): Show |
G | disruptive_inframe_deletion | MODERATE | HG00735.hp1 HG02109.hp1 HG02717.hp1 |
a0007 | a0007c0007 | a0007c0007t0007 | a0007c0007t0007g0024 | 3 | 346 | 0.0087 | -54 | c.665 others(61): Show |
p.Gly others(13): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 2/2 | 896/3389 | 665/1944 | 222/647 | chrX | TogoVar | ||
POLR3F_chr20_18462390_18489646 | 18486127 | AATATATA others(47): Show |
A | downstream_gene_variant | MODIFIER | NA18957.hp1 NA18971.hp1 NA18978.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0015a0001c0002t0007g0046a0001c0002t0007g0047 | 3 | 452 | 0.0066 | -54 | c.*25 others(65): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 1482 | chr20 | TogoVar | ||||||
POLRMT_chr19_612221_638537 | 613578 | CGGGGATG others(47): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp2 HG03486.hp2 |
a0003a0004 | a0003c0002a0004c0029 | a0003c0002t0004a0004c0029t0002 | a0003c0002t0004g0152a0004c0029t0002g0208 | 2 | 422 | 0.0047 | -54 | c.*36 others(65): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3642 | chr19 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988932 | TGTGGAGG others(47): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0241a0001c0007t0001g0242a0001c0007t0001g0243others(2): Show | 5 | 278 | 0.0180 | -54 | c.*24 others(65): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2078 | chr7 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75988980 | GTGGGGGG others(47): Show |
G | downstream_gene_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0162 | 1 | 278 | 0.0036 | -54 | c.*25 others(65): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2126 | chr7 | TogoVar | ||||||
POTEI_chr2_130454455_130514328 | 130506800 | CCCGGCCT others(47): Show |
C | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0089 | 1 | 125 | 0.0080 | -54 | c.521 others(71): Show |
POTEI | ENSG00000196834.14 | transcript | ENST00000451531.7 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
POTEM_chr14_18962434_19008752 | 18969281 | ATACACAT others(47): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0008 | a0008c0010 | a0008c0010t0015 | a0008c0010t0015g0004 | 1 | 67 | 0.0149 | -54 | c.521 others(71): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39454655 | GATATATA others(47): Show |
G | intron_variant | MODIFIER | HG02615.hp2 NA21309.hp1 |
a0001a0002 | a0001c0005a0002c0008 | a0001c0005t0011a0002c0008t0030 | a0001c0005t0011g0060a0002c0008t0030g0051 | 2 | 170 | 0.0118 | -54 | c.148 others(73): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PP2D1_chr3_19980346_20017264 | 20014938 | TCCTTAAT others(47): Show |
T | upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | -54 | c.-29 others(65): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 2675 | chr3 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38895843 | TCCTCCTT others(47): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02630.hp2 NA18943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0021others(2): Show | 5 | 244 | 0.0205 | -54 | c.467 others(69): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38895905 | CCTTCTTT others(47): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01516.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0020a0001c0001t0001g0051a0001c0001t0001g0077others(4): Show | 7 | 244 | 0.0287 | -54 | c.467 others(69): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PPP2R3B_chrX_328933_391907 | 344207 | GGAGGCGG others(47): Show |
G | intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0011 | 1 | 25 | 0.0400 | -54 | c.103 others(73): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
PPP4R2_chr3_72991811_73074198 | 73004910 | CATGTGTG others(47): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0075 | 1 | 360 | 0.0028 | -54 | c.116 others(71): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(47): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00735.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0003t0011others(1): Show | a0001c0001t0001g0106a0001c0001t0001g0108a0001c0001t0001g0110others(19): Show | 22 | 394 | 0.0558 | -54 | c.135 others(71): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50338563 | GTGTGTGT others(47): Show |
G | upstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0065 | 1 | 340 | 0.0029 | -54 | c.-51 others(65): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 4763 | chr22 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41845168 | CACACACA others(47): Show |
C | intron_variant | MODIFIER | NA18940.hp1 NA19068.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0089a0001c0002t0002g0094 | 2 | 406 | 0.0049 | -54 | c.640 others(71): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41845224 | CACACAGC others(47): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0130 | 1 | 406 | 0.0025 | -54 | c.640 others(71): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3181370 | ACGCAGTC others(47): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0100 | 1 | 210 | 0.0048 | -54 | c.38- others(69): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKAG2_chr7_151551127_151882115 | 151820396 | CGGCCCCT others(47): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01074.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0053a0001c0001t0001g0175a0001c0001t0001g0184others(14): Show | 17 | 252 | 0.0675 | -54 | c.115 others(73): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151820593 | GGAACACC others(47): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0163a0001c0001t0002g0192a0001c0001t0004g0212others(1): Show | 4 | 252 | 0.0159 | -54 | c.115 others(73): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66798914 | GTGGTGAT others(47): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0147 | 1 | 178 | 0.0056 | -54 | c.185 others(73): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCG_chr19_53877197_53912652 | 53906048 | CCTCCTCC others(47): Show |
C | intron_variant | MODIFIER | HG02155.hp2 NA18969.hp2 NA18974.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052a0001c0003t0001g0277a0001c0003t0001g0287others(1): Show | 4 | 362 | 0.0111 | -54 | c.176 others(71): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2124335 | TGGTGGTT others(47): Show |
T | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0145 | 1 | 286 | 0.0035 | -54 | c.335 others(73): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRLR_chr5_35050702_35235487 | 35145762 | GCTTAATA others(47): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001a0001c0001t0005g0006a0001c0001t0005g0007 | 4 | 214 | 0.0187 | -54 | c.-10 others(75): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
PRR7_chr5_177441814_177461286 | 177451316 | CAGCCTGC others(47): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 332 | 0.0030 | -54 | c.-32 others(73): Show |
PRR7 | ENSG00000131188.12 | transcript | ENST00000323249.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PRR7_chr5_177441814_177461286 | 177451451 | GCCCACCC others(47): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 HG03669.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0001g0044a0001c0001t0001g0080others(1): Show | 4 | 332 | 0.0121 | -54 | c.-32 others(73): Show |
PRR7 | ENSG00000131188.12 | transcript | ENST00000323249.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PRR7_chr5_177441814_177461286 | 177451505 | ACCCACCC others(47): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01261.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035a0001c0001t0001g0046a0001c0001t0001g0055others(2): Show | 6 | 332 | 0.0181 | -54 | c.-32 others(73): Show |
PRR7 | ENSG00000131188.12 | transcript | ENST00000323249.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PRR7_chr5_177441814_177461286 | 177451781 | GCCCTCAG others(47): Show |
G | intron_variant | MODIFIER | NA18984.hp2 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0057 | 2 | 332 | 0.0060 | -54 | c.-32 others(73): Show |
PRR7 | ENSG00000131188.12 | transcript | ENST00000323249.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18865240 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0175 | 1 | 228 | 0.0044 | -54 | c.163 others(73): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865242 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0133 | 1 | 228 | 0.0044 | -54 | c.163 others(73): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSMB9_chr6_32849192_32864851 | 32859873 | CTTTAAGG others(47): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 455 | 0.0022 | -54 | c.*34 others(63): Show |
PSMB9 | ENSG00000240065.8 | transcript | ENST00000374859.3 | protein_coding | 23 | chr6 | TogoVar | ||||||
PSMD1_chr2_231051867_231177827 | 231165024 | TTATATAT others(47): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01070.hp1 others(47): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0248a0001c0001t0001g0281a0001c0001t0003g0003others(45): Show | 50 | 364 | 0.1374 | -54 | c.248 others(71): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD3_chr17_39975807_40002959 | 40000128 | GCATGCCT others(47): Show |
G | downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 418 | 0.0024 | -54 | c.*25 others(65): Show |
PSMD3 | ENSG00000108344.15 | transcript | ENST00000264639.9 | protein_coding | 2170 | chr17 | TogoVar | ||||||
PTGFR_chr1_78485974_78545701 | 78532412 | ATATATGT others(47): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0286 | 1 | 386 | 0.0026 | -54 | c.799 others(71): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PTK2_chr8_140652900_141006282 | 140983670 | GGAAGGAA others(47): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 290 | 0.0035 | -54 | c.-12 others(75): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908111 | AAAATATA others(47): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0148 | a0001c0001t0028g0137a0001c0001t0028g0138a0001c0001t0148g0117 | 3 | 354 | 0.0085 | -54 | c.*68 others(63): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 687 | chr1 | TogoVar |