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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZRN3_chr3_73377431_73629941 | 73386226 | C | CTTTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01109.hp2 others(29): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0025a0001c0001t0001g0058a0001c0001t0001g0069others(29): Show | 32 | 216 | 0.1482 | 7 | c.151 others(24): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 8/9 | chr3 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73424367 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0004t0002others(1): Show | a0001c0001t0001g0072a0001c0002t0003g0077a0001c0002t0003g0134others(3): Show | 6 | 216 | 0.0278 | 7 | c.919 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73491592 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01106.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(6): Show | a0001c0001t0001g0060a0001c0001t0001g0069a0001c0001t0001g0079others(21): Show | 24 | 216 | 0.1111 | 7 | c.919 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41390562 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG02055.hp2 others(4): Show |
a0002a0003a0004others(1): Show | a0002c0022a0003c0005a0003c0006others(3): Show | a0002c0022t0001a0003c0005t0001a0003c0006t0002others(3): Show | a0002c0022t0001g0141a0003c0005t0001g0049a0003c0005t0001g0070others(4): Show | 7 | 206 | 0.0340 | 7 | c.844 others(28): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41402585 | T | TACTGAGC | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00673.hp2 others(21): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0001c0042others(11): Show | a0001c0001t0001a0001c0004t0001a0001c0042t0001others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0004t0001g0072others(21): Show | 24 | 206 | 0.1165 | 7 | c.844 others(28): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41402644 | A | ATACTGAG | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG03098.hp1 |
a0001a0003a0012 | a0001c0001a0003c0006a0012c0048 | a0001c0001t0001a0003c0006t0001a0012c0048t0001 | a0001c0001t0001g0151a0003c0006t0001g0124a0012c0048t0001g0144 | 3 | 206 | 0.0146 | 7 | c.844 others(28): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEAK1_chr15_77103158_77425104 | 77225657 | G | GTATAATT | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01074.hp2 others(15): Show |
a0003a0008a0011 | a0003c0003a0008c0010a0011c0019 | a0003c0003t0002a0003c0003t0006a0003c0003t0039others(2): Show | a0003c0003t0002g0117a0003c0003t0002g0129a0003c0003t0002g0133others(15): Show | 18 | 326 | 0.0552 | 7 | c.-11 others(28): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77226046 | T | TATATATA | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00738.hp1 others(11): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0036a0002c0002t0003a0002c0002t0004others(2): Show | a0001c0004t0036g0306a0002c0002t0003g0217a0002c0002t0003g0218others(11): Show | 14 | 326 | 0.0429 | 7 | c.-11 others(28): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
PEAR1_chr1_156888718_156921429 | 156890888 | T | TTTTTTTC | upstream_gene_variant | MODIFIER | HG02258.hp2 HG03453.hp1 HG03516.hp2 others(3): Show |
a0001a0003a0005 | a0001c0002a0001c0041a0003c0003others(1): Show | a0001c0002t0004a0001c0041t0001a0003c0003t0002others(1): Show | a0001c0002t0004g0239a0001c0041t0001g0168a0003c0003t0002g0001others(1): Show | 6 | 384 | 0.0156 | 7 | c.-29 others(18): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 2829 | chr1 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22795164 | T | TATATATA | intron_variant | MODIFIER | HG00544.hp2 HG03831.hp1 HG04228.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0002a0002c0002t0001a0004c0004t0004others(1): Show | a0001c0001t0002g0219a0002c0002t0001g0114a0004c0004t0004g0259others(1): Show | 4 | 278 | 0.0144 | 7 | c.357 others(26): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216048057 | C | CTTTTCTT | intron_variant | MODIFIER | HG02109.hp1 HG03486.hp2 HG03579.hp2 others(1): Show |
a0001a0006a0010 | a0001c0011a0006c0005a0010c0012 | a0001c0011t0006a0006c0005t0009a0010c0012t0003 | a0001c0011t0006g0383a0006c0005t0009g0217a0006c0005t0009g0381others(1): Show | 4 | 398 | 0.0101 | 7 | c.714 others(24): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
PEDS1_chr20_50113254_50158723 | 50155097 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(97): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0128a0001c0001t0001g0157a0001c0001t0001g0240others(88): Show | 100 | 366 | 0.2732 | 7 | c.-14 others(18): Show |
PEDS1 | ENSG00000240849.11 | transcript | ENST00000371652.9 | protein_coding | 1375 | chr20 | TogoVar | ||||||
PELI1_chr2_64087652_64149420 | 64140787 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG02074.hp1 HG02080.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0141a0001c0001t0001g0159a0001c0001t0002g0022others(2): Show | 6 | 304 | 0.0197 | 7 | c.-70 others(24): Show |
PELI1 | ENSG00000197329.12 | transcript | ENST00000358912.5 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
PELI3_chr11_66461905_66482337 | 66469791 | G | GTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01928.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010a0001c0002t0002g0014a0001c0002t0002g0040others(3): Show | 15 | 396 | 0.0379 | 7 | c.224 others(22): Show |
PELI3 | ENSG00000174516.15 | transcript | ENST00000320740.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PELO_chr5_52782916_52809044 | 52808676 | C | CTTTCTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00597.hp2 others(67): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0003g0001a0001c0001t0003g0009a0001c0001t0003g0025others(25): Show | 70 | 442 | 0.1584 | 7 | c.*68 others(18): Show |
PELO | ENSG00000152684.11 | transcript | ENST00000274311.3 | protein_coding | 4633 | chr5 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33485491 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0146a0001c0001t0001g0152a0001c0001t0001g0156others(11): Show | 14 | 314 | 0.0446 | 7 | c.503 others(24): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 6/14 | chr19 | TogoVar | ||||||
PER1_chr17_8135472_8157404 | 8139669 | T | TCTGAGCC | downstream_gene_variant | MODIFIER | HG03688.hp1 HG04115.hp2 HG04199.hp2 |
a0001a0013 | a0001c0001a0013c0025 | a0001c0001t0001a0013c0025t0001 | a0001c0001t0001g0004a0001c0001t0001g0091a0013c0025t0001g0087 | 3 | 426 | 0.0070 | 7 | c.*13 others(18): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 802 | chr17 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806808 | A | ATATATAT | intron_variant | MODIFIER | HG02027.hp2 HG02717.hp1 HG03017.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0339a0001c0007t0001g0261a0002c0002t0001g0183others(4): Show | 7 | 410 | 0.0171 | 7 | c.113 others(26): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806810 | A | ATATATAT | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG03195.hp1 others(9): Show |
a0001a0004a0014 | a0001c0001a0001c0007a0004c0006others(1): Show | a0001c0001t0001a0001c0007t0001a0004c0006t0001others(2): Show | a0001c0001t0001g0264a0001c0001t0001g0352a0001c0001t0001g0355others(8): Show | 12 | 410 | 0.0293 | 7 | c.113 others(26): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | ATATATAT | intron_variant | MODIFIER | HG00639.hp1 HG02155.hp1 HG03540.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0013a0001c0007t0001others(3): Show | a0001c0001t0001g0345a0001c0001t0013g0311a0001c0007t0001g0203others(4): Show | 7 | 410 | 0.0171 | 7 | c.113 others(26): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7812624 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG01891.hp1 others(6): Show |
a0002a0009a0016 | a0002c0002a0002c0013a0009c0015others(1): Show | a0002c0002t0001a0002c0013t0005a0009c0015t0001others(1): Show | a0002c0002t0001g0190a0002c0002t0001g0193a0002c0002t0001g0194others(6): Show | 9 | 410 | 0.0220 | 7 | c.152 others(26): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PERP_chr6_138083505_138112419 | 138106903 | C | CTTTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG01255.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0013a0001c0001t0018others(4): Show | a0001c0001t0004g0161a0001c0001t0013g0024a0001c0001t0013g0041others(8): Show | 17 | 430 | 0.0395 | 7 | c.214 others(22): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PET100_chr19_7624793_7636956 | 7628642 | A | AGGCCTCT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0014others(4): Show | 38 | 402 | 0.0945 | 7 | c.-11 others(18): Show |
PET100 | ENSG00000229833.11 | transcript | ENST00000594797.6 | protein_coding | 1150 | chr19 | TogoVar | ||||||
PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG02717.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0009others(1): Show | a0001c0002t0001g0095a0001c0002t0003g0013a0001c0002t0003g0096others(2): Show | 12 | 358 | 0.0335 | 7 | c.*44 others(18): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35581287 | T | TATATAAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015a0001c0001t0011g0032 | 4 | 436 | 0.0092 | 7 | c.-32 others(18): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2717 | chr17 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10537341 | A | ACCCCCCC | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0085others(13): Show | 16 | 258 | 0.0620 | 7 | c.169 others(24): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10570848 | G | GTTTGTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(69): Show | 72 | 258 | 0.2791 | 7 | c.170 others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10570848 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0093a0001c0001t0001g0116a0001c0001t0001g0250others(38): Show | 42 | 258 | 0.1628 | 7 | c.170 others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7196024 | C | CATTATAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(139): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0001c0010others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0011others(103): Show | 142 | 428 | 0.3318 | 7 | c.449 others(24): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7196033 | T | TTATATAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(221): Show | 275 | 428 | 0.6425 | 7 | c.449 others(24): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PFAS_chr17_8244289_8275486 | 8248410 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(77): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0002c0035others(9): Show | a0001c0001t0001a0001c0001t0013a0002c0002t0002others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0029others(42): Show | 80 | 388 | 0.2062 | 7 | c.-10 others(18): Show |
PFAS | ENSG00000178921.14 | transcript | ENST00000314666.11 | protein_coding | 878 | chr17 | TogoVar | ||||||
PFDN4_chr20_54203087_54224961 | 54207063 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00741.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0011others(9): Show | 32 | 438 | 0.0731 | 7 | c.-10 others(18): Show |
PFDN4 | ENSG00000101132.10 | transcript | ENST00000371419.7 | protein_coding | 1023 | chr20 | TogoVar | ||||||
PFDN4_chr20_54203087_54224961 | 54224204 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01167.hp2 HG02273.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0002g0100 | 6 | 438 | 0.0137 | 7 | c.*50 others(18): Show |
PFDN4 | ENSG00000101132.10 | transcript | ENST00000371419.7 | protein_coding | 4244 | chr20 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6199658 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01175.hp1 NA18944.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0254a0001c0001t0003g0388a0001c0001t0003g0389others(3): Show | 6 | 432 | 0.0139 | 7 | c.-36 others(18): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 3273 | chr10 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6208371 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01358.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0238a0001c0001t0001g0261a0001c0001t0002g0260others(9): Show | 12 | 432 | 0.0278 | 7 | c.76+ others(22): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKFB3_chr10_6197932_6240532 | 6235011 | T | TGGACGGG | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01069.hp1 others(19): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0007a0001c0001t0030a0001c0001t0062others(7): Show | a0001c0001t0007g0011a0001c0001t0007g0039a0001c0001t0007g0040others(18): Show | 22 | 432 | 0.0509 | 7 | c.*20 others(18): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 15/15 | 2079 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
PFKP_chr10_3062548_3141802 | 3081977 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01928.hp2 HG02145.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0027others(4): Show | a0001c0002t0004a0001c0005t0002a0001c0005t0003others(5): Show | a0001c0002t0004g0184a0001c0005t0002g0330a0001c0005t0003g0186others(6): Show | 9 | 402 | 0.0224 | 7 | c.113 others(22): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3087984 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0007others(2): Show | a0001c0002t0004a0001c0005t0002a0001c0005t0007others(3): Show | a0001c0002t0004g0184a0001c0005t0002g0004a0001c0005t0002g0330others(5): Show | 8 | 402 | 0.0199 | 7 | c.186 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3097077 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02056.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(7): Show | a0001c0001t0002g0109a0001c0001t0004g0385a0001c0002t0002g0044others(7): Show | 10 | 402 | 0.0249 | 7 | c.187 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3098672 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(76): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0002g0022a0001c0001t0002g0251a0001c0001t0002g0308others(76): Show | 79 | 402 | 0.1965 | 7 | c.187 others(22): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PGA3_chr11_61198515_61218098 | 61205994 | T | TTAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01496.hp2 HG02630.hp1 others(6): Show |
a0002a0003a0007 | a0002c0002a0003c0010a0007c0021 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(2): Show | a0002c0002t0001g0027a0002c0002t0001g0082a0002c0002t0001g0083others(5): Show | 9 | 311 | 0.0289 | 7 | c.220 others(22): Show |
PGA3 | ENSG00000229859.10 | transcript | ENST00000325558.11 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61223842 | T | TGGCACAG | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(157): Show |
a0000a0001a0003others(6): Show | a0000c0016a0001c0001a0001c0003others(10): Show | a0000c0016t0005a0001c0001t0001a0001c0001t0002others(17): Show | a0000c0016t0005g0058a0001c0001t0001g0001a0001c0001t0001g0003others(70): Show | 160 | 304 | 0.5263 | 7 | c.219 others(22): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PGA4_chr11_61217347_61236694 | 61224823 | T | TTAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(145): Show |
a0000a0001a0003others(5): Show | a0000c0016a0001c0001a0001c0003others(8): Show | a0000c0016t0005a0001c0001t0001a0001c0001t0002others(15): Show | a0000c0016t0005g0058a0001c0001t0001g0001a0001c0001t0001g0003others(62): Show | 148 | 304 | 0.4868 | 7 | c.220 others(22): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
PGA5_chr11_61236175_61256444 | 61242668 | T | TGGCACAG | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG01515.hp2 others(23): Show |
a0001a0010 | a0001c0001a0001c0005a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0002others(5): Show | a0001c0001t0001g0153a0001c0001t0001g0155a0001c0001t0001g0156others(16): Show | 26 | 406 | 0.0640 | 7 | c.219 others(22): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PGA5_chr11_61236175_61256444 | 61243649 | T | TTAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG02027.hp2 others(17): Show |
a0001a0010 | a0001c0001a0001c0005a0001c0013others(3): Show | a0001c0001t0003a0001c0005t0002a0001c0013t0002others(3): Show | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0050others(10): Show | 20 | 406 | 0.0493 | 7 | c.220 others(22): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97425907 | A | AACCCGCC | upstream_gene_variant | MODIFIER | HG02132.hp2 HG02258.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0006a0001c0001t0002g0028a0001c0003t0001g0038 | 5 | 438 | 0.0114 | 7 | c.-40 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 283 | chr10 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97425908 | A | ACCCGCCG | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00673.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(10): Show | 46 | 438 | 0.1050 | 7 | c.-40 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 282 | chr10 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97425912 | G | GCCGCCCT | upstream_gene_variant | MODIFIER | HG01934.hp1 NA18965.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0024a0001c0001t0001g0074 | 3 | 438 | 0.0069 | 7 | c.-39 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 278 | chr10 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97425919 | G | GCCGCCCT | upstream_gene_variant | MODIFIER | HG02523.hp1 HG03486.hp1 HG03540.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(3): Show | 9 | 438 | 0.0206 | 7 | c.-38 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 271 | chr10 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCT | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01433.hp1 HG02165.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(4): Show | 12 | 438 | 0.0274 | 7 | c.-38 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar |