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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRDM16_chr1_3064203_3443621 | 3190175 | C | CTTACTTC others(17): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02886.hp2 |
a0001a0002 | a0001c0022a0002c0003a0002c0030 | a0001c0022t0057a0002c0003t0004a0002c0030t0047 | a0001c0022t0057g0139 a0002c0003t0004g0128 a0002c0030t0047g0206 |
3 | 210 | 0.0143 | 24 | c.387 others(41): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM5_chr4_120686915_120927726 | 120699944 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18977.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0207 a0001c0002t0001g0088 |
2 | 298 | 0.0067 | 24 | c.172 others(43): Show |
PRDM5 | ENSG00000138738.11 | transcript | ENST00000264808.8 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
PRDM5_chr4_120686915_120927726 | 120734395 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0124 a0001c0001t0005g0176 |
2 | 298 | 0.0067 | 24 | c.162 others(45): Show |
PRDM5 | ENSG00000138738.11 | transcript | ENST00000264808.8 | protein_coding | 14/15 | chr4 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123143148 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0042 | 1 | 312 | 0.0032 | 24 | c.901 others(43): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRDM8_chr4_80192503_80209329 | 80199709 | A | ATATGTGT others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 4 | 420 | 0.0095 | 24 | c.-2- others(37): Show |
PRDM8 | ENSG00000152784.16 | transcript | ENST00000415738.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRDM8_chr4_80192503_80209329 | 80208321 | T | TACACACA others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01891.hp1 others(30): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0003g0004 others(15): Show |
33 | 420 | 0.0786 | 24 | c.*47 others(35): Show |
PRDM8 | ENSG00000152784.16 | transcript | ENST00000415738.3 | protein_coding | 3993 | chr4 | TogoVar | |||||||
PRDX4_chrX_23662493_23691397 | 23665838 | A | AAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01256.hp1 others(22): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0004 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 others(20): Show |
25 | 349 | 0.0716 | 24 | c.-17 others(35): Show |
PRDX4 | ENSG00000123131.13 | transcript | ENST00000379341.9 | protein_coding | 1654 | chrX | TogoVar | |||||||
PRELID2_chr5_145751344_145840342 | 145817220 | A | AAAAAATA others(17): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0057 | 1 | 258 | 0.0039 | 24 | c.368 others(39): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
PRELID2_chr5_145751344_145840342 | 145817220 | A | AAAATATA others(17): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0055 | a0001c0003t0055g0056 | 1 | 258 | 0.0039 | 24 | c.368 others(39): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
PRELID2_chr5_145751344_145840342 | 145821152 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01928.hp1 HG02132.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0138 others(12): Show |
15 | 258 | 0.0581 | 24 | c.134 others(41): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 2/6 | chr5 | TogoVar | |||||||
PRELID2_chr5_145751344_145840342 | 145825225 | C | CAAAAAAC others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0052 | 1 | 258 | 0.0039 | 24 | c.76- others(39): Show |
PRELID2 | ENSG00000186314.12 | transcript | ENST00000683046.1 | protein_coding | 1/6 | chr5 | TogoVar | |||||||
PRELID3A_chr18_12402929_12437234 | 12405803 | A | AAAAGAAA others(17): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 NA19082.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0002g0134 |
3 | 394 | 0.0076 | 24 | c.-21 others(35): Show |
PRELID3A | ENSG00000141391.14 | transcript | ENST00000440960.6 | protein_coding | 2125 | chr18 | TogoVar | |||||||
PREP_chr6_105268218_105408082 | 105334713 | T | TCAACAAC others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02109.hp1 others(13): Show |
a0001a0002a0003 | a0001c0004a0001c0006a0001c0008others(5): Show | a0001c0004t0029a0001c0006t0001a0001c0006t0054others(11): Show | a0001c0004t0029g0191 a0001c0006t0001g0132 a0001c0006t0001g0133 others(13): Show |
16 | 212 | 0.0755 | 24 | c.824 others(41): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 7/14 | chr6 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48634168 | A | ATGGATGG others(17): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03710.hp1 |
a0008 | a0008c0019 | a0008c0019t0008a0008c0019t0015 | a0008c0019t0008g0071 a0008c0019t0015g0141 |
2 | 268 | 0.0075 | 24 | c.426 others(41): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 33/39 | chr20 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48659233 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp2 HG02015.hp2 others(14): Show |
a0001a0004a0005others(1): Show | a0001c0006a0001c0024a0004c0004others(2): Show | a0001c0006t0005a0001c0024t0005a0004c0004t0001others(2): Show | a0001c0006t0005g0062 a0001c0006t0005g0139 a0001c0006t0005g0180 others(13): Show |
17 | 268 | 0.0634 | 24 | c.188 others(41): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 16/39 | chr20 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48659262 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01255.hp2 others(14): Show |
a0002a0010 | a0002c0002a0002c0013a0002c0014others(1): Show | a0002c0002t0003a0002c0002t0009a0002c0013t0003others(2): Show | a0002c0002t0003g0016 a0002c0002t0003g0020 a0002c0002t0003g0021 others(14): Show |
17 | 268 | 0.0634 | 24 | c.188 others(41): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 16/39 | chr20 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48661468 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0003 | a0003c0003 | a0003c0003t0017 | a0003c0003t0017g0198 | 1 | 268 | 0.0037 | 24 | c.173 others(43): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 15/39 | chr20 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48661468 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0179 | 1 | 268 | 0.0037 | 24 | c.173 others(43): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 15/39 | chr20 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48733705 | C | CTGTTGTT others(17): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03492.hp2 NA19000.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0002c0002t0003a0004c0004t0001 | a0001c0001t0002g0195 a0002c0002t0003g0021 a0004c0004t0001g0155 |
3 | 268 | 0.0112 | 24 | c.519 others(39): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 4/39 | chr20 | TogoVar | |||||||
PREX2_chr8_67947046_68242032 | 67951936 | C | CGCGCGCG others(17): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0016 | a0001c0016t0007 | a0001c0016t0007g0041 | 1 | 190 | 0.0053 | 24 | c.-45 others(33): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 109 | chr8 | TogoVar | |||||||
PRF1_chr10_70592348_70607741 | 70601840 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01256.hp1 HG01975.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0003t0001 | a0001c0001t0005g0021 a0001c0002t0001g0046 a0001c0003t0001g0027 |
6 | 442 | 0.0136 | 24 | c.-31 others(39): Show |
PRF1 | ENSG00000180644.8 | transcript | ENST00000441259.2 | protein_coding | 1/2 | chr10 | TogoVar | |||||||
PRG4_chr1_186291279_186319567 | 186307610 | A | AAGCCCGC others(17): Show |
disruptive_inframe_insertion | MODERATE | HG06807.hp2 | a0025 | a0025c0034 | a0025c0034t0001 | a0025c0034t0001g0112 | 1 | 428 | 0.0023 | 24 | c.189 others(33): Show |
p.Lys others(37): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 1940/5049 | 1895/4215 | 632/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PRIM1_chr12_56726580_56757323 | 56757178 | A | ATTCTTGG others(17): Show |
upstream_gene_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0254 | 1 | 336 | 0.0030 | 24 | c.-49 others(35): Show |
PRIM1 | ENSG00000198056.16 | transcript | ENST00000338193.11 | protein_coding | 4856 | chr12 | TogoVar | |||||||
PRIM2_chr6_57312630_57651850 | 57345506 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02965.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0284 |
3 | 300 | 0.0100 | 24 | c.459 others(43): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57418383 | G | GGTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 a0001c0001t0002g0289 |
2 | 300 | 0.0067 | 24 | c.693 others(43): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
PRIM2_chr6_57312630_57651850 | 57542939 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 300 | 0.0033 | 24 | c.102 others(43): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57627279 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 a0001c0001t0003g0272 |
2 | 300 | 0.0067 | 24 | c.123 others(43): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93782291 | A | AATACATA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG02683.hp2 others(3): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0002a0001c0006t0003 | a0001c0005t0001g0277 a0001c0005t0001g0278 a0001c0005t0001g0279 others(3): Show |
6 | 397 | 0.0151 | 24 | c.94- others(39): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
PRKAA2_chr1_56640314_56720335 | 56695166 | C | CTCTATAT others(17): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0178 | a0001c0001t0178g0299 | 1 | 412 | 0.0024 | 24 | c.564 others(39): Show |
PRKAA2 | ENSG00000162409.12 | transcript | ENST00000371244.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKACA_chr19_14086688_14122762 | 14109999 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0305 | 1 | 358 | 0.0028 | 24 | c.47- others(39): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PRKACB_chr1_84139271_84243498 | 84180183 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02129.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0055 others(10): Show |
14 | 320 | 0.0438 | 24 | c.249 others(39): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKACB_chr1_84139271_84243498 | 84199120 | T | TATATGCA others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01361.hp2 HG02148.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0289 others(8): Show |
12 | 320 | 0.0375 | 24 | c.783 others(41): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151773023 | A | AAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0217 | 1 | 252 | 0.0040 | 24 | c.466 others(41): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151782339 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0110 a0001c0001t0002g0124 |
3 | 252 | 0.0119 | 24 | c.187 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151782339 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG02735.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0151 a0001c0001t0003g0111 |
2 | 252 | 0.0079 | 24 | c.187 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151782339 | A | AGGAGGGA others(17): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0034 | 1 | 252 | 0.0040 | 24 | c.187 others(39): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151832218 | G | GGGGAGGA others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0237 | 1 | 252 | 0.0040 | 24 | c.114 others(43): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAR1A_chr17_68507430_68538431 | 68510159 | C | CAGAGAGA others(17): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG03942.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0088 others(1): Show |
6 | 412 | 0.0146 | 24 | c.-23 others(35): Show |
PRKAR1A | ENSG00000108946.17 | transcript | ENST00000589228.6 | protein_coding | 2270 | chr17 | TogoVar | |||||||
PRKAR2A_chr3_48741586_48852874 | 48836419 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01515.hp2 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0006 a0001c0001t0004g0035 |
2 | 166 | 0.0121 | 24 | c.262 others(43): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
PRKAR2B_chr7_107039705_107166811 | 107126420 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 282 | 0.0036 | 24 | c.397 others(41): Show |
PRKAR2B | ENSG00000005249.14 | transcript | ENST00000265717.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66406585 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0037 | 1 | 178 | 0.0056 | 24 | c.206 others(43): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66424565 | T | TCAGACAC others(17): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02622.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0023a0001c0001t0029 | a0001c0001t0016g0098 a0001c0001t0023g0094 a0001c0001t0029g0171 |
3 | 178 | 0.0169 | 24 | c.206 others(43): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66677075 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01515.hp1 HG02083.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0015a0001c0002t0010others(5): Show | a0001c0001t0005g0176 a0001c0001t0015g0100 a0001c0002t0010g0068 others(6): Show |
9 | 178 | 0.0506 | 24 | c.530 others(43): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66765420 | A | ATCTATAT others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0132 | 1 | 178 | 0.0056 | 24 | c.152 others(43): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66781887 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0090 | a0001c0002t0090g0119 | 1 | 178 | 0.0056 | 24 | c.160 others(43): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 14/16 | chr17 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66799550 | G | GTGGTGGT others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0035 | 1 | 178 | 0.0056 | 24 | c.185 others(43): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23847577 | C | CATCCATC others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0033a0001c0001t0040a0001c0002t0002others(2): Show | a0001c0001t0033g0060 a0001c0001t0040g0018 a0001c0002t0002g0017 others(2): Show |
5 | 148 | 0.0338 | 24 | c.205 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | chr16 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23882021 | T | TCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02155.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0029a0001c0001t0058a0001c0003t0085 | a0001c0001t0029g0083 a0001c0001t0058g0072 a0001c0003t0085g0073 |
3 | 148 | 0.0203 | 24 | c.205 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23902728 | T | TCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG01123.hp1 NA20752.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0007a0001c0005t0003 | a0001c0004t0007g0041 a0001c0005t0003g0042 |
2 | 148 | 0.0135 | 24 | c.205 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23902732 | C | CCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02809.hp2 HG03017.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0046a0001c0002t0013a0001c0005t0001others(1): Show | a0001c0001t0046g0029 a0001c0002t0013g0020 a0001c0005t0001g0013 others(1): Show |
4 | 148 | 0.0270 | 24 | c.205 others(43): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |