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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLR2F_chr22_37948699_37974312 | 37967399 | TTCCTGCT others(24): Show |
T | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 404 | 0.0025 | -31 | c.294 others(46): Show |
POLR2F | ENSG00000100142.16 | transcript | ENST00000442738.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
POLR3A_chr10_77970149_78034515 | 78031542 | AAAAAAAT others(24): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0322 | 1 | 374 | 0.0027 | -31 | c.-21 others(42): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 2028 | chr10 | TogoVar | ||||||
POLRMT_chr19_612221_638537 | 617761 | CAGACTAC others(24): Show |
C | frameshift_variant others(3): Show |
HIGH | NA18965.hp1 | a0036 | a0036c0072 | a0036c0072t0004 | a0036c0072t0004g0156 | 1 | 422 | 0.0024 | -31 | c.348 others(43): Show |
p.Ser others(6): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 18/21 | 3480/3693 | 1160/1230 | chr19 | TogoVar | |||
POLRMT_chr19_612221_638537 | 623316 | AGCTCAGC others(24): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0265 | 1 | 422 | 0.0024 | -31 | c.129 others(48): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 6/20 | chr19 | TogoVar | ||||||
POMZP3_chr7_76604986_76632279 | 76626230 | AGACAAAT others(24): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0000 | a0000c0002 | a0000c0002t0004 | a0000c0002t0004g0240 | 1 | 423 | 0.0024 | -31 | c.-15 others(46): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 1/6 | chr7 | TogoVar | ||||||
POTEM_chr14_18962434_19008752 | 18969397 | TTTTTTGA others(24): Show |
T | intron_variant | MODIFIER | NA18944.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0034 | 1 | 67 | 0.0149 | -31 | c.521 others(48): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
POTEM_chr14_18962434_19008752 | 18978435 | TCTCTAGC others(24): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show |
a0004a0015 | a0004c0004a0015c0016 | a0004c0004t0033a0004c0004t0034a0004c0004t0035others(2): Show | a0004c0004t0033g0009a0004c0004t0034g0008a0004c0004t0035g0007others(2): Show | 5 | 67 | 0.0746 | -31 | c.105 others(48): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 5/10 | chr14 | TogoVar | ||||||
POU2AF3_chr11_111293546_111313735 | 111308987 | TAAAAATA others(24): Show |
T | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 468 | 0.0021 | -31 | c.*55 others(40): Show |
POU2AF3 | ENSG00000214290.9 | transcript | ENST00000610738.6 | protein_coding | 253 | chr11 | TogoVar | ||||||
PPBP_chr4_73981439_73993190 | 73982205 | AAAAAGAA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 368 | 0.0027 | -31 | c.*50 others(42): Show |
PPBP | ENSG00000163736.4 | transcript | ENST00000296028.4 | protein_coding | 4233 | chr4 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81296803 | ATTTTCCT others(24): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG01109.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0087a0001c0001t0001g0111a0001c0001t0002g0037others(26): Show | 29 | 168 | 0.1726 | -31 | c.272 others(50): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 23/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81415205 | AAAAAAAT others(24): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0105 | 1 | 168 | 0.0060 | -31 | c.646 others(48): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81584876 | AATTATAT others(24): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 168 | 0.0060 | -31 | c.303 others(50): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27685280 | CATATACA others(24): Show |
C | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 314 | 0.0032 | -31 | c.224 others(50): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPM1E_chr17_58750854_58990179 | 58816766 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0239a0001c0001t0001g0240a0001c0001t0001g0241others(8): Show | 11 | 312 | 0.0353 | -31 | c.464 others(50): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PPM1J_chr1_112704998_112720332 | 112706433 | ACACACAC others(24): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0014 | a0014c0010 | a0014c0010t0002 | a0014c0010t0002g0042 | 1 | 422 | 0.0024 | -31 | c.*36 others(42): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3564 | chr1 | TogoVar | ||||||
PPP1R14A_chr19_38246237_38261374 | 38259631 | ATATATAT others(24): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 426 | 0.0024 | -31 | c.-33 others(42): Show |
PPP1R14A | ENSG00000167641.11 | transcript | ENST00000301242.9 | protein_coding | 3258 | chr19 | TogoVar | ||||||
PPP1R1C_chr2_181980853_182122756 | 182076192 | CTTTTCTT others(24): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 344 | 0.0029 | -31 | c.241 others(50): Show |
PPP1R1C | ENSG00000150722.11 | transcript | ENST00000682840.1 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R2B_chr5_156845295_156857528 | 156857096 | GTTTTTTT others(24): Show |
G | downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | -31 | c.*59 others(42): Show |
PPP1R2B | ENSG00000231989.5 | transcript | ENST00000522232.3 | protein_coding | 4569 | chr5 | TogoVar | ||||||
PPP1R9A_chr7_94902594_95301400 | 95181640 | AATATATA others(24): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(186): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0004a0001c0008others(25): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(69): Show | a0001c0002t0001g0006a0001c0002t0003g0023a0001c0002t0003g0080others(186): Show | 189 | 290 | 0.6517 | -31 | c.175 others(52): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPP1R9A_chr7_94902594_95301400 | 95181778 | GTCACATA others(24): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 HG03139.hp1 |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0036a0003c0003t0006g0038a0003c0003t0006g0039 | 3 | 290 | 0.0103 | -31 | c.175 others(52): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131952658 | GGGGGGGT others(24): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01074.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0034others(9): Show | a0001c0001t0004g0003a0001c0001t0004g0012a0001c0001t0004g0057others(33): Show | 39 | 394 | 0.0990 | -31 | c.108 others(50): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131952846 | GCAGTGAC others(24): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01258.hp2 HG01346.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014a0001c0001t0021others(5): Show | a0001c0001t0007g0005a0001c0001t0007g0179a0001c0001t0007g0181others(17): Show | 23 | 394 | 0.0584 | -31 | c.108 others(50): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP4R3A_chr14_91452508_91515310 | 91507389 | GTATATGT others(24): Show |
G | intron_variant | MODIFIER | HG02071.hp2 HG02486.hp1 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0226a0001c0001t0001g0227a0001c0001t0001g0228others(1): Show | 4 | 370 | 0.0108 | -31 | c.142 others(48): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46389361 | AAACACAC others(24): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 394 | 0.0025 | -31 | c.135 others(48): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50340500 | GTGTGGTG others(24): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0009 | a0009c0030 | a0009c0030t0027 | a0009c0030t0027g0069 | 1 | 340 | 0.0029 | -31 | c.-31 others(42): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2826 | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50344805 | TTCCCCCC others(24): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(48): Show |
a0001a0006a0015 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0024others(10): Show | a0001c0001t0001g0234a0001c0001t0001g0235a0001c0001t0001g0236others(48): Show | 51 | 340 | 0.1500 | -31 | c.-14 others(50): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50344807 | CCCCCCCC others(24): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(33): Show | a0001c0001t0001g0074a0001c0001t0001g0076a0001c0001t0001g0077others(143): Show | 146 | 340 | 0.4294 | -31 | c.-14 others(50): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R3_chr11_68455752_68620334 | 68530287 | ATAGGAAT others(24): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016a0001c0001t0020 | a0001c0001t0014g0178a0001c0001t0014g0179a0001c0001t0016g0174others(3): Show | 6 | 252 | 0.0238 | -31 | c.-6- others(46): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 2/23 | chr11 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856108 | TCCTTCCT others(24): Show |
T | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0003 | a0001c0003t0033 | a0001c0003t0033g0056 | 1 | 406 | 0.0025 | -31 | c.285 others(48): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3269660 | GAGGACAG others(24): Show |
G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 210 | 0.0048 | -31 | c.438 others(50): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3403006 | GCCCTCCT others(24): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0011a0001c0006t0013a0001c0006t0024others(1): Show | a0001c0006t0011g0039a0001c0006t0011g0065a0001c0006t0013g0133others(2): Show | 5 | 210 | 0.0238 | -31 | c.884 others(44): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3403037 | ACCCTCCT others(24): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(71): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0026others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(36): Show | a0001c0001t0001g0055a0001c0001t0001g0119a0001c0001t0001g0183others(71): Show | 74 | 210 | 0.3524 | -31 | c.884 others(44): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRICKLE2_chr3_64087236_64230466 | 64207832 | GCTTTGAA others(24): Show |
G | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 340 | 0.0029 | -31 | c.-40 others(48): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
PRKAG3_chr2_218817308_218836803 | 218825563 | ACTTGAAC others(24): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG01975.hp1 HG02055.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003 | a0003c0004t0001g0036a0003c0004t0003g0007a0003c0004t0003g0033others(4): Show | 14 | 400 | 0.0350 | -31 | c.116 others(49): Show |
PRKAG3 | ENSG00000115592.13 | transcript | ENST00000439262.7 | protein_coding | 10/13 | chr2 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66562041 | TAATTATA others(24): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01928.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0020others(16): Show | a0001c0001t0004g0060a0001c0001t0004g0075a0001c0001t0004g0157others(20): Show | 23 | 178 | 0.1292 | -31 | c.288 others(50): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCA_chr17_66297613_66815743 | 66562184 | GTTATATA others(24): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG03540.hp1 |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0004a0003c0007t0003 | a0001c0003t0004g0101a0003c0007t0003g0018 | 2 | 178 | 0.0112 | -31 | c.288 others(50): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23866968 | CCCTTCCT others(24): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02738.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0019a0001c0002t0013a0001c0003t0047others(2): Show | a0001c0001t0019g0102a0001c0002t0013g0020a0001c0003t0047g0055others(2): Show | 5 | 148 | 0.0338 | -31 | c.205 others(50): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 45744469 | CTTTCTTT others(24): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0122 | 1 | 168 | 0.0060 | -31 | c.348 others(50): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 45744495 | CTTTCTTT others(24): Show |
C | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0156 | 1 | 168 | 0.0060 | -31 | c.348 others(50): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCG_chr19_53877197_53912652 | 53878631 | AAAAAAAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG02132.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0009 | a0001c0002t0001a0001c0003t0001a0001c0009t0001 | a0001c0002t0001g0075a0001c0002t0001g0101a0001c0002t0001g0120others(2): Show | 5 | 362 | 0.0138 | -31 | c.-38 others(42): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3565 | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53878633 | AAAAAAAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02027.hp1 HG02148.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0174a0001c0001t0001g0182others(10): Show | 13 | 362 | 0.0359 | -31 | c.-38 others(42): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3563 | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53878635 | AAAAAAAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG01074.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0095a0001c0001t0001g0168a0001c0001t0001g0186others(21): Show | 24 | 362 | 0.0663 | -31 | c.-38 others(42): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3561 | chr19 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53878637 | AAAAAAAA others(24): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01256.hp1 HG02004.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0022 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0255a0001c0001t0001g0341a0001c0001t0003g0039others(4): Show | 7 | 362 | 0.0193 | -31 | c.-38 others(42): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3559 | chr19 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2133611 | ATCCCTCG others(24): Show |
A | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 286 | 0.0035 | -31 | c.335 others(48): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKG1_chr10_51069487_52303350 | 51601721 | ATTTTTTT others(24): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0015a0001c0003t0002g0033 | 2 | 64 | 0.0313 | -31 | c.592 others(52): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRKN_chr6_161342417_162732766 | 161484838 | ACTCAAAG others(24): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0023 | 2 | 32 | 0.0625 | -31 | c.108 others(52): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161680745 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 32 | 0.0313 | -31 | c.871 others(52): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162553818 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 32 | 0.0313 | -31 | c.8-1 others(48): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162584215 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0012 | 1 | 32 | 0.0313 | -31 | c.8-1 others(48): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
PROK1_chr1_110446149_110462358 | 110458039 | CTTTTTTT others(24): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(151): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0015others(17): Show | 154 | 456 | 0.3377 | -31 | c.*16 others(42): Show |
PROK1 | ENSG00000143125.6 | transcript | ENST00000271331.4 | protein_coding | 682 | chr1 | TogoVar |