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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPWD1_chr5_65558296_65592549 | 65591645 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 142 | 0.0070 | 30 | c.*42 others(41): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 4097 | chr5 | TogoVar | |||||||
PRAMEF20_chr1_13405450_13426328 | 13417908 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | NA19070.hp2 NA19075.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0075 a0002c0003t0001g0140 |
2 | 323 | 0.0062 | 30 | c.288 others(45): Show |
PRAMEF20 | ENSG00000204478.11 | transcript | ENST00000602960.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156787650 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 10 | 0.1000 | 30 | c.108 others(47): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156792053 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0048 |
2 | 32 | 0.0625 | 30 | c.117 others(47): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156795285 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 23 | 0.0435 | 30 | c.132 others(47): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRCP_chr11_82817936_82905430 | 82882875 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18975.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0026 a0001c0001t0002g0072 a0001c0001t0018g0073 |
3 | 151 | 0.0199 | 30 | c.168 others(49): Show |
PRCP | ENSG00000137509.12 | transcript | ENST00000313010.8 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
PRDM10_chr11_129894711_130007835 | 129963382 | G | GAAAAGAG others(23): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG03486.hp1 others(4): Show |
a0001 | a0001c0003a0001c0011a0001c0013others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0011t0002others(3): Show | a0001c0003t0001g0208 a0001c0003t0002g0157 a0001c0011t0002g0177 others(4): Show |
7 | 201 | 0.0348 | 30 | c.-11 others(49): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
PRDM12_chr9_130659594_130687983 | 130680659 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0244 | 1 | 122 | 0.0082 | 30 | c.683 others(45): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806048 | C | CCACCACC others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0038 | a0001c0038t0013 | a0001c0038t0013g0215 | 1 | 387 | 0.0026 | 30 | c.265 others(49): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41806307 | C | CCACCACC others(23): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0315 | 1 | 304 | 0.0033 | 30 | c.265 others(49): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41835940 | G | GCCGCTCT others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(107): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0006others(17): Show | a0001c0002t0002a0001c0002t0015a0001c0002t0028others(30): Show | a0001c0002t0002g0006 a0001c0002t0002g0043 a0001c0002t0002g0045 others(104): Show |
110 | 312 | 0.3526 | 30 | c.127 others(47): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 10/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41835973 | A | ACTCTCCT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0036 | 1 | 184 | 0.0054 | 30 | c.127 others(47): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 10/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41856158 | C | CTCCCCTC others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0029 | 1 | 404 | 0.0025 | 30 | c.285 others(47): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3111466 | T | TGGGGAGG others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp2 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(38): Show | a0001c0001t0001g0006 a0001c0001t0001g0203 a0001c0001t0003g0049 others(45): Show |
48 | 203 | 0.2365 | 30 | c.37+ others(47): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3146991 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0008a0001c0013 | a0001c0001t0011a0001c0001t0014a0001c0001t0020others(6): Show | a0001c0001t0011g0022 a0001c0001t0014g0069 a0001c0001t0020g0105 others(6): Show |
9 | 208 | 0.0433 | 30 | c.38- others(47): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3181448 | A | ACACGGTC others(23): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 |
a0001a0002 | a0001c0022a0002c0030 | a0001c0022t0057a0002c0030t0047 | a0001c0022t0057g0138 a0002c0030t0047g0206 |
2 | 188 | 0.0106 | 30 | c.38- others(45): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3255852 | C | CGACACCC others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0029 a0001c0001t0001g0095 a0001c0001t0001g0119 others(68): Show |
71 | 205 | 0.3463 | 30 | c.438 others(49): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDX4_chrX_23662493_23691397 | 23665838 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02056.hp1 HG02109.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0129 others(2): Show |
6 | 58 | 0.1034 | 30 | c.-17 others(41): Show |
PRDX4 | ENSG00000123131.13 | transcript | ENST00000379341.9 | protein_coding | 1654 | chrX | TogoVar | |||||||
PRELID2_chr5_145751344_145840342 | 145821149 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 255 | 0.0039 | 30 | c.134 others(47): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
PRELID2_chr5_145751344_145840342 | 145821152 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG01928.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0106 a0001c0001t0001g0159 a0001c0001t0001g0165 others(22): Show |
25 | 105 | 0.2381 | 30 | c.134 others(47): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
PREP_chr6_105268218_105408082 | 105334713 | T | TCAACAAC others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0160 | 1 | 115 | 0.0087 | 30 | c.824 others(47): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 7/14 | chr6 | TogoVar | |||||||
PREP_chr6_105268218_105408082 | 105371500 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0131 | 1 | 81 | 0.0123 | 30 | c.595 others(47): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48661444 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0037 | a0001c0037t0004 | a0001c0037t0004g0010 | 1 | 130 | 0.0077 | 30 | c.173 others(49): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 15/39 | chr20 | TogoVar | |||||||
PRICKLE4_chr6_41775782_41792452 | 41783779 | A | AAACTCAT others(23): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0078 | 1 | 452 | 0.0022 | 30 | c.132 others(45): Show |
PRICKLE4 | ENSG00000278224.7 | transcript | ENST00000458694.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57345506 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 111 | 0.0090 | 30 | c.459 others(49): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57542939 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 69 | 0.0145 | 30 | c.102 others(49): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIMPOL_chr4_184644738_184699952 | 184651290 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03139.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060 a0003c0003t0001g0061 |
2 | 319 | 0.0063 | 30 | c.-13 others(47): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRIMPOL_chr4_184644738_184699952 | 184676719 | T | TTCCTTCT others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01074.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 others(4): Show |
7 | 325 | 0.0215 | 30 | c.845 others(47): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
PRKACA_chr19_14086688_14122762 | 14109999 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 a0001c0001t0002g0256 |
2 | 226 | 0.0088 | 30 | c.47- others(45): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PRKACB_chr1_84139271_84243498 | 84180183 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01099.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0136 others(14): Show |
17 | 38 | 0.4474 | 30 | c.249 others(45): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKACB_chr1_84139271_84243498 | 84198931 | G | GTATATGT others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 a0001c0001t0002g0266 |
2 | 318 | 0.0063 | 30 | c.783 others(47): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAG1_chr12_48997274_49023776 | 49002545 | A | AGGGCCAA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0127 | 1 | 312 | 0.0032 | 30 | c.*32 others(39): Show |
PRKAG1 | ENSG00000181929.13 | transcript | ENST00000548065.7 | protein_coding | 12/12 | 353 | chr12 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151603132 | A | ACTCACCG others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(89): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0039 others(89): Show |
92 | 244 | 0.3770 | 30 | c.755 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151603279 | C | CGTCCTCA others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 | 1 | 250 | 0.0040 | 30 | c.755 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151603393 | A | ACGCTCCG others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0007 | a0001c0001t0005g0236 a0001c0002t0007g0013 a0001c0002t0007g0024 others(3): Show |
6 | 248 | 0.0242 | 30 | c.755 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151603467 | C | CCGCACAC others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02818.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0015 | a0001c0001t0006g0100 a0001c0001t0010g0174 a0001c0001t0015g0238 |
3 | 249 | 0.0120 | 30 | c.755 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151603483 | C | CCGCTCCG others(23): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 249 | 0.0040 | 30 | c.755 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151603543 | C | CCGCTCCG others(23): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 247 | 0.0040 | 30 | c.755 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151603633 | C | CCGCTCCG others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0021others(5): Show | a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0037 others(45): Show |
48 | 243 | 0.1975 | 30 | c.755 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151669882 | T | TTGCATGC others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(144): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(144): Show |
147 | 227 | 0.6476 | 30 | c.684 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151669887 | T | TGCACACA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(72): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 others(72): Show |
75 | 250 | 0.3000 | 30 | c.684 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151832265 | A | AAGGGAGG others(23): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 242 | 0.0041 | 30 | c.114 others(49): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151874183 | T | TATGTATA others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0141 |
2 | 224 | 0.0089 | 30 | c.114 others(47): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAR2A_chr3_48741586_48852874 | 48829590 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18612.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0125 a0001c0001t0001g0137 others(1): Show |
4 | 107 | 0.0374 | 30 | c.262 others(49): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
PRKAR2B_chr7_107039705_107166811 | 107158200 | T | TAGTAAAG others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01070.hp1 others(31): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0088 a0001c0001t0001g0275 a0001c0001t0002g0009 others(31): Show |
34 | 280 | 0.1214 | 30 | c.112 others(47): Show |
PRKAR2B | ENSG00000005249.14 | transcript | ENST00000265717.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66368364 | G | GTGTATGT others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0112 | 1 | 118 | 0.0085 | 30 | c.205 others(49): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66495525 | G | GTATTTTA others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0016a0001c0009t0034 | a0001c0001t0016g0098 a0001c0009t0034g0158 |
2 | 80 | 0.0250 | 30 | c.206 others(45): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66587683 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | 1 | 127 | 0.0079 | 30 | c.289 others(49): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66765418 | C | CTATCTAT others(23): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02083.hp2 HG02273.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0086a0001c0002t0083others(4): Show | a0001c0001t0007g0029 a0001c0001t0086g0122 a0001c0002t0083g0138 others(4): Show |
7 | 45 | 0.1556 | 30 | c.152 others(49): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799547 | G | GTGGTGGT others(23): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 150 | 0.0067 | 30 | c.185 others(49): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |