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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNKP_chr19_49856204_49872576 | 49871755 | TTGTGTCG others(30): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -37 | c.-43 others(48): Show |
PNKP | ENSG00000039650.12 | transcript | ENST00000322344.8 | protein_coding | 4180 | chr19 | TogoVar | |||||||
PNMA3_chrX_153051470_153065462 | 153063051 | TTGTTTCC others(30): Show |
T | downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | -37 | c.*46 others(48): Show |
PNMA3 | ENSG00000183837.10 | transcript | ENST00000593810.3 | protein_coding | 2590 | chrX | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46464525 | GATCTGCC others(30): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0017 | 1 | 452 | 0.0022 | -37 | c.*39 others(48): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1977 | chr19 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137551669 | CGCCCCGC others(30): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0182 | 1 | 167 | 0.0060 | -37 | c.-15 others(48): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1268 | chr9 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131529915 | AGAGGGCT others(30): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0012a0001c0016others(27): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(65): Show | a0001c0003t0001g0184 a0001c0003t0001g0206 a0001c0003t0001g0284 others(253): Show |
262 | 436 | 0.6009 | -37 | c.101 others(56): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24806053 | GTTTTTTT others(30): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG03195.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 |
3 | 7 | 0.4286 | -37 | c.296 others(56): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLK_chr5_75506891_75614991 | 75528500 | AACATTGA others(30): Show |
A | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0310 | 1 | 354 | 0.0028 | -37 | c.-14 others(56): Show |
POLK | ENSG00000122008.16 | transcript | ENST00000241436.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
POLR1A_chr2_86015216_86110886 | 86041235 | GCTACAGT others(30): Show |
G | intron_variant | MODIFIER | HG01258.hp2 HG02922.hp1 HG02976.hp1 others(1): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0001a0010c0014t0029a0010c0014t0070 | a0001c0001t0001g0182 a0010c0014t0029g0114 a0010c0014t0029g0115 others(1): Show |
4 | 338 | 0.0118 | -37 | c.357 others(54): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 24/33 | chr2 | TogoVar | |||||||
POLR2G_chr11_62756580_62771710 | 62757088 | ATATATAT others(30): Show |
A | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 366 | 0.0027 | -37 | c.-45 others(48): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 4491 | chr11 | TogoVar | |||||||
POTEM_chr14_18962434_19008752 | 19008715 | GCTGGTTG others(30): Show |
G | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02027.hp1 HG04115.hp1 |
a0003a0016a0021 | a0003c0003a0016c0011a0021c0019 | a0003c0003t0020a0016c0011t0019a0021c0019t0009 | a0003c0003t0020g0035 a0016c0011t0019g0039 a0021c0019t0009g0002 |
3 | 66 | 0.0455 | -37 | c.*10 others(50): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 4964 | chr14 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149809195 | GATAGATA others(30): Show |
G | intron_variant | MODIFIER | HG03195.hp1 NA19009.hp1 |
a0001a0009 | a0001c0001a0009c0020 | a0001c0001t0003a0009c0020t0008 | a0001c0001t0003g0057 a0009c0020t0008g0004 |
2 | 318 | 0.0063 | -37 | c.79- others(54): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809366 | GATAGATA others(30): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03579.hp1 HG04184.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0004t0006a0003c0003t0033others(1): Show | a0001c0001t0001g0010 a0001c0004t0006g0115 a0003c0003t0033g0292 others(1): Show |
4 | 318 | 0.0126 | -37 | c.79- others(54): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPBP_chr4_73981439_73993190 | 73990112 | GAGTAAAG others(30): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -37 | c.-20 others(48): Show |
PPBP | ENSG00000163736.4 | transcript | ENST00000296028.4 | protein_coding | 1923 | chr4 | TogoVar | |||||||
PPHLN1_chr12_42321167_42447181 | 42411360 | CTACAGCA others(30): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(87): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0117 others(87): Show |
90 | 374 | 0.2406 | -37 | c.909 others(56): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPIAL4A_chr1_120884771_120895530 | 120889450 | GAAAGAAA others(30): Show |
G | upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 278 | 0.0036 | -37 | c.-37 others(46): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 320 | chr1 | TogoVar | |||||||
PPIAL4F_chr1_144587893_144598652 | 144592581 | GAAAGAAA others(30): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0000 | 1 | 158 | 0.0063 | -37 | c.-36 others(46): Show |
PPIAL4F | ENSG00000279782.3 | transcript | ENST00000581138.4 | protein_coding | 311 | chr1 | TogoVar | |||||||
PPIF_chr10_79342469_79360334 | 79357898 | TCAAGCTC others(30): Show |
T | downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 405 | 0.0025 | -37 | c.*40 others(48): Show |
PPIF | ENSG00000108179.14 | transcript | ENST00000225174.8 | protein_coding | 2565 | chr10 | TogoVar | |||||||
PPIG_chr2_169579351_169646406 | 169603483 | CATATACT others(30): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(30): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(306): Show |
322 | 380 | 0.8474 | -37 | c.-69 others(51): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPIL6_chr6_109385215_109445628 | 109443521 | AGCAGAGA others(30): Show |
A | upstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 394 | 0.0025 | -37 | c.-29 others(48): Show |
PPIL6 | ENSG00000185250.16 | transcript | ENST00000521072.7 | protein_coding | 2894 | chr6 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112720217 | CAGGTTCT others(30): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0042 | 1 | 420 | 0.0024 | -37 | c.-49 others(48): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 4886 | chr1 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131939071 | TACGGCAG others(30): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0234 | 1 | 321 | 0.0031 | -37 | c.199 others(52): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131939088 | AGCAGACC others(30): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 2 | 278 | 0.0072 | -37 | c.199 others(52): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131958020 | GTCCCCCT others(30): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0053 a0001c0001t0026g0054 |
2 | 392 | 0.0051 | -37 | c.*20 others(48): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 2063 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131958182 | GGAGGTGT others(30): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00738.hp2 HG00741.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0062 | a0001c0001t0001g0013 a0001c0001t0001g0036 a0001c0001t0001g0265 others(16): Show |
21 | 392 | 0.0536 | -37 | c.*22 others(48): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 2229 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131958869 | GCCATCCC others(30): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 2 | 390 | 0.0051 | -37 | c.*29 others(48): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 2914 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131959131 | ATCCCCCT others(30): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 392 | 0.0051 | -37 | c.*32 others(48): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 3204 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131959279 | GTCCCCCT others(30): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 a0001c0001t0006g0178 a0001c0001t0006g0179 others(7): Show |
13 | 390 | 0.0333 | -37 | c.*33 others(48): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 3345 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R5E_chr14_63366364_63548377 | 63522588 | GCCCCGCC others(30): Show |
G | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 250 | 0.0040 | -37 | c.157 others(56): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 2/13 | chr14 | TogoVar | |||||||
PPP4C_chr16_30070994_30090376 | 30084219 | AGCCTCTG others(30): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01928.hp1 HG01993.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0070 a0001c0001t0001g0101 others(1): Show |
7 | 366 | 0.0191 | -37 | c.605 others(52): Show |
PPP4C | ENSG00000149923.14 | transcript | ENST00000279387.12 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46389361 | AAACACAC others(30): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 377 | 0.0027 | -37 | c.135 others(54): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP6R1_chr19_55224779_55264017 | 55224937 | ACCCCAGC others(30): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 HG03540.hp1 |
a0007 | a0007c0008 | a0007c0008t0001a0007c0008t0004 | a0007c0008t0001g0289 a0007c0008t0004g0036 |
2 | 376 | 0.0053 | -37 | c.*55 others(48): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 4841 | chr19 | TogoVar | |||||||
PPP6R1_chr19_55224779_55264017 | 55255360 | GCAGAGTT others(30): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 376 | 0.0027 | -37 | c.-7+ others(52): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 1/23 | chr19 | TogoVar | |||||||
PPWD1_chr5_65558296_65592549 | 65590452 | CAAAAAGT others(30): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 382 | 0.0026 | -37 | c.*30 others(48): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 2904 | chr5 | TogoVar | |||||||
PRAMEF17_chr1_13384632_13397629 | 13395004 | TCAGACGG others(30): Show |
T | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 428 | 0.0023 | -37 | c.*25 others(48): Show |
PRAMEF17 | ENSG00000204479.4 | transcript | ENST00000376098.4 | protein_coding | 2376 | chr1 | TogoVar | |||||||
PRAME_chr22_22542701_22564265 | 22558089 | GGAGGGGT others(30): Show |
G | intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0130 | 1 | 398 | 0.0025 | -37 | c.-11 others(54): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
PRAME_chr22_22542701_22564265 | 22558320 | CGGGGGAG others(30): Show |
C | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 397 | 0.0025 | -37 | c.-11 others(54): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
PRC1_chr15_90961040_90999535 | 90976273 | GAGACCAG others(30): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01175.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0014others(1): Show | a0001c0001t0001a0002c0003t0002a0002c0003t0004others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0062 a0002c0003t0002g0152 others(14): Show |
18 | 374 | 0.0481 | -37 | c.120 others(54): Show |
PRC1 | ENSG00000198901.14 | transcript | ENST00000394249.8 | protein_coding | 9/14 | chr15 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3443225 | GCCGTCCT others(30): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0055 others(153): Show |
156 | 195 | 0.8000 | -37 | c.*94 others(48): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 4605 | chr1 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089114 | TCTCTCTC others(30): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0296 | 1 | 276 | 0.0036 | -37 | c.-42 others(46): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 126 | chr5 | TogoVar | |||||||
PRDM7_chr16_90051566_90082331 | 90052501 | ATCTCTGT others(30): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 | 1 | 361 | 0.0028 | -37 | c.*57 others(48): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 4064 | chr16 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23866986 | CCCTTCCT others(30): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0146 | 1 | 129 | 0.0078 | -37 | c.205 others(56): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744471 | TTCTTTCT others(30): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0132 | 1 | 154 | 0.0065 | -37 | c.348 others(56): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744475 | TTCTTTCT others(30): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0064 a0001c0001t0007g0015 |
2 | 164 | 0.0122 | -37 | c.348 others(56): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744479 | TTCTTTCT others(30): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG03239.hp1 NA19011.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0003 a0001c0001t0003g0115 a0001c0002t0001g0012 |
3 | 160 | 0.0188 | -37 | c.348 others(56): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53878631 | AAAAAAAA others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 355 | 0.0028 | -37 | c.-38 others(48): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3565 | chr19 | TogoVar | |||||||
PRKCG_chr19_53877197_53912652 | 53878633 | AAAAAAAA others(30): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02647.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 a0001c0001t0003g0050 a0001c0001t0003g0051 |
3 | 341 | 0.0088 | -37 | c.-38 others(48): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 3563 | chr19 | TogoVar | |||||||
PRKG1_chr10_51069487_52303350 | 51393111 | TGCCGGGC others(30): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0055 |
2 | 64 | 0.0313 | -37 | c.479 others(56): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51858053 | AATATATA others(30): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01496.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0003 | a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0009g0039 others(1): Show |
4 | 57 | 0.0702 | -37 | c.699 others(56): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161680738 | TATATATA others(30): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0007 | a0002c0007t0012 | a0002c0007t0012g0018 | 1 | 32 | 0.0313 | -37 | c.871 others(58): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162267300 | ACAGTGGA others(30): Show |
A | intron_variant | MODIFIER | HG02258.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0001 | a0001c0001t0013g0012 a0001c0003t0001g0025 |
2 | 32 | 0.0625 | -37 | c.172 others(54): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar |