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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP2R2B_chr5_146575742_146883757 | 146596374 | CATTAACT others(29): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01361.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0058a0001c0001t0095others(3): Show | a0001c0001t0023g0161a0001c0001t0023g0162a0001c0001t0058g0057others(4): Show | 7 | 170 | 0.0412 | -36 | c.961 others(53): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 8/9 | chr5 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6337108 | GTGTGTAT others(29): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 298 | 0.0034 | -36 | c.791 others(53): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131917931 | GCGGGTGG others(29): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(52): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(15): Show | a0001c0001t0004g0003a0001c0001t0004g0012a0001c0001t0004g0057others(45): Show | 55 | 394 | 0.1396 | -36 | c.101 others(55): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131918307 | TCTCACGT others(29): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02976.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0064 | a0001c0001t0026g0039a0001c0001t0026g0190a0001c0001t0064g0038 | 3 | 394 | 0.0076 | -36 | c.101 others(55): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131918727 | GCGGGTGG others(29): Show |
G | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 394 | 0.0025 | -36 | c.101 others(55): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131952205 | GCGGGTGT others(29): Show |
G | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 1 | 394 | 0.0025 | -36 | c.108 others(55): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131958089 | CCCCCGTC others(29): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0101 | 1 | 394 | 0.0025 | -36 | c.*21 others(47): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 2152 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
PPP2R5A_chr1_212280410_212366853 | 212322229 | AGAGGGAG others(29): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 384 | 0.0026 | -36 | c.182 others(53): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PPP2R5C_chr14_101756709_101932977 | 101922481 | TCTGTGTC others(29): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 138 | 0.0073 | -36 | c.160 others(55): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | chr14 | TogoVar | ||||||
PPP2R5D_chr6_42979570_43017342 | 42998035 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 306 | 0.0033 | -36 | c.105 others(53): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP2R5D_chr6_42979570_43017342 | 42998037 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02015.hp1 HG02083.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0246others(7): Show | 12 | 306 | 0.0392 | -36 | c.105 others(53): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP2R5D_chr6_42979570_43017342 | 42998039 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0256 | 2 | 306 | 0.0065 | -36 | c.105 others(53): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP3R1_chr2_68173857_68257532 | 68198369 | ATGTACAT others(29): Show |
A | intron_variant | MODIFIER | HG02129.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105a0001c0001t0003g0116 | 2 | 398 | 0.0050 | -36 | c.44- others(51): Show |
PPP3R1 | ENSG00000221823.11 | transcript | ENST00000234310.8 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(29): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01168.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0114a0001c0001t0001g0299a0001c0001t0001g0347others(2): Show | 5 | 394 | 0.0127 | -36 | c.135 others(53): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PPP6R1_chr19_55224779_55264017 | 55260750 | AGCTGTGG others(29): Show |
A | upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 378 | 0.0027 | -36 | c.-23 others(47): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 1734 | chr19 | TogoVar | ||||||
PPP6R3_chr11_68455752_68620334 | 68508770 | TTGACAGG others(29): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0003g0022others(2): Show | 5 | 252 | 0.0198 | -36 | c.-15 others(57): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRAM1_chr19_8485056_8507640 | 8499451 | CGGCTTCT others(29): Show |
C | disruptive_inframe_deletion | MODERATE | HG00609.hp2 HG00735.hp2 HG01943.hp2 others(1): Show |
a0015a0057 | a0015c0014a0057c0088 | a0015c0014t0001a0057c0088t0002 | a0015c0014t0001g0031a0015c0014t0001g0102a0057c0088t0002g0208 | 4 | 422 | 0.0095 | -36 | c.321 others(43): Show |
p.Pro others(13): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 2/10 | 405/2195 | 321/2013 | 107/670 | chr19 | TogoVar | ||
PRAMEF1_chr1_12786397_12801628 | 12789385 | CTTCCTTC others(29): Show |
C | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0039 | 1 | 382 | 0.0026 | -36 | c.-21 others(47): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 2011 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789397 | CTTCCTTC others(29): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01106.hp1 HG02074.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0003others(1): Show | a0001c0001t0001g0001a0002c0002t0002g0002a0003c0003t0003g0003others(1): Show | 5 | 382 | 0.0131 | -36 | c.-21 others(47): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 1999 | chr1 | TogoVar | ||||||
PRAMEF1_chr1_12786397_12801628 | 12789435 | TCTTTCTT others(29): Show |
T | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -36 | c.-20 others(47): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 1961 | chr1 | TogoVar | ||||||
PRAME_chr22_22542701_22564265 | 22557956 | AATGGGGG others(29): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG01358.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0039a0002c0004t0005g0040a0002c0004t0005g0130others(5): Show | 10 | 399 | 0.0251 | -36 | c.-11 others(53): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
PRAME_chr22_22542701_22564265 | 22558004 | AAGACAGG others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(268): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(141): Show | 271 | 399 | 0.6792 | -36 | c.-11 others(53): Show |
PRAME | ENSG00000185686.18 | transcript | ENST00000405655.8 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089108 | TCTCTCTC others(29): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp2 | a0003 | a0003c0003 | a0003c0003t0016 | a0003c0003t0016g0008 | 1 | 312 | 0.0032 | -36 | c.-42 others(45): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 132 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089110 | TCTCTCTC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02976.hp2 others(1): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0021a0002c0002t0061a0005c0007t0064 | a0002c0002t0021g0010a0002c0002t0061g0278a0005c0007t0064g0244 | 4 | 312 | 0.0128 | -36 | c.-42 others(45): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 130 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089112 | TCTCTCTC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG01981.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0175a0001c0001t0039g0167 | 2 | 312 | 0.0064 | -36 | c.-42 others(45): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 128 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089114 | TCTCTCTC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG01978.hp2 HG03942.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0010 | a0001c0001t0001g0103a0002c0002t0010g0294 | 2 | 312 | 0.0064 | -36 | c.-42 others(45): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 126 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089116 | TCTCTCTC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02622.hp2 HG03540.hp2 others(8): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0001c0001t0073a0002c0002t0001others(4): Show | a0001c0001t0001g0082a0001c0001t0001g0090a0001c0001t0001g0164others(8): Show | 11 | 312 | 0.0353 | -36 | c.-41 others(45): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 124 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089118 | TCTCTCTC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp1 NA19007.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0016 | a0001c0001t0001g0003a0002c0002t0016g0261 | 2 | 312 | 0.0064 | -36 | c.-41 others(45): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 122 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089120 | TCTCTCTC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG01256.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0267a0002c0002t0001g0272a0002c0002t0002g0231others(2): Show | 5 | 312 | 0.0160 | -36 | c.-41 others(45): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 120 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089122 | TCTCTCAC others(29): Show |
T | upstream_gene_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0243 | 1 | 312 | 0.0032 | -36 | c.-41 others(45): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 118 | chr5 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089124 | TCTCACAC others(29): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0027 | 1 | 312 | 0.0032 | -36 | c.-41 others(45): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 116 | chr5 | TogoVar | ||||||
PREP_chr6_105268218_105408082 | 105374632 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02602.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0011 | a0001c0001t0001a0002c0003t0003a0002c0003t0024others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0002c0003t0003g0001others(9): Show | 14 | 212 | 0.0660 | -36 | c.386 others(53): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48641840 | GAGGAAGG others(29): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01243.hp1 others(6): Show |
a0001a0008 | a0001c0006a0001c0024a0008c0012 | a0001c0006t0005a0001c0024t0005a0008c0012t0001 | a0001c0006t0005g0062a0001c0006t0005g0136a0001c0006t0005g0177others(6): Show | 9 | 268 | 0.0336 | -36 | c.377 others(53): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 29/39 | chr20 | TogoVar | ||||||
PREX1_chr20_48619252_48832999 | 48815131 | AAAAAGTA others(29): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 268 | 0.0037 | -36 | c.219 others(55): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 1/39 | chr20 | TogoVar | ||||||
PRICKLE1_chr12_42451757_42594746 | 42477482 | GTATATAT others(29): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00673.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(16): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0052others(73): Show | 76 | 300 | 0.2533 | -36 | c.-48 others(53): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57381503 | ATAGCAAA others(29): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01169.hp1 HG02145.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0262a0001c0001t0001g0265a0001c0001t0001g0266others(16): Show | 19 | 300 | 0.0633 | -36 | c.556 others(51): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRKAG2_chr7_151551127_151882115 | 151874417 | TATGTATA others(29): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 252 | 0.0040 | -36 | c.114 others(53): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151874438 | TATGTATA others(29): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(65): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0015others(65): Show | 68 | 252 | 0.2698 | -36 | c.114 others(53): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKAR1A_chr17_68507430_68538431 | 68531912 | GAGTGACT others(29): Show |
G | 3_prime_UTR_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0005 | 1 | 412 | 0.0024 | -36 | c.*14 others(47): Show |
PRKAR1A | ENSG00000108946.17 | transcript | ENST00000589228.6 | protein_coding | 11/11 | 1465 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
PRKCA_chr17_66297613_66815743 | 66799077 | TGGTGGTG others(29): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0107 | 1 | 178 | 0.0056 | -36 | c.185 others(55): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23865493 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | NA20905.hp2 NA21309.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0026 | a0001c0003t0001g0069a0001c0003t0026g0113 | 2 | 148 | 0.0135 | -36 | c.205 others(55): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23865495 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02965.hp2 HG03209.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0019a0001c0002t0055others(3): Show | a0001c0001t0008g0054a0001c0001t0019g0102a0001c0002t0055g0114others(3): Show | 6 | 148 | 0.0405 | -36 | c.205 others(55): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23865497 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0086 | 1 | 148 | 0.0068 | -36 | c.205 others(55): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 23865505 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01071.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0105a0001c0001t0004g0106a0001c0001t0005g0104others(1): Show | 4 | 148 | 0.0270 | -36 | c.205 others(55): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCB_chr16_23830983_24225611 | 24049285 | TACCACTA others(29): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0146 | 1 | 148 | 0.0068 | -36 | c.529 others(55): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PRKCE_chr2_45646675_46192990 | 45744413 | TTTTCTTT others(29): Show |
T | intron_variant | MODIFIER | HG03688.hp2 HG03710.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0138a0001c0002t0001g0031 | 2 | 168 | 0.0119 | -36 | c.348 others(55): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2121730 | ACTTAGGG others(29): Show |
A | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0010 | 1 | 286 | 0.0035 | -36 | c.335 others(55): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123870 | TGGCGGTT others(29): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 286 | 0.0035 | -36 | c.335 others(55): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2124213 | AGTTAGCG others(29): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 286 | 0.0035 | -36 | c.335 others(55): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2124338 | TGGTTAGG others(29): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02572.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0048a0001c0001t0001g0075a0001c0001t0001g0076others(16): Show | 19 | 286 | 0.0664 | -36 | c.335 others(55): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |