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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP6C_chr9_125141573_125194803 | 125165795 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0101 a0001c0001t0002g0257 a0001c0001t0002g0261 others(23): Show |
27 | 181 | 0.1492 | 7 | c.172 others(24): Show |
PPP6C | ENSG00000119414.12 | transcript | ENST00000373547.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
PPP6C_chr9_125141573_125194803 | 125168755 | C | CTTATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00733.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0021 a0001c0001t0007g0197 a0001c0001t0007g0198 others(7): Show |
11 | 392 | 0.0281 | 7 | c.171 others(24): Show |
PPP6C | ENSG00000119414.12 | transcript | ENST00000373547.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
PPP6C_chr9_125141573_125194803 | 125184966 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 NA18949.hp1 NA19003.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0008a0001c0002t0009 | a0001c0002t0005g0182 a0001c0002t0005g0183 a0001c0002t0005g0184 others(3): Show |
6 | 172 | 0.0349 | 7 | c.75+ others(22): Show |
PPP6C | ENSG00000119414.12 | transcript | ENST00000373547.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
PPP6R1_chr19_55224779_55264017 | 55243404 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02922.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0007a0002c0003t0013 | a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0126 others(4): Show |
7 | 350 | 0.0200 | 7 | c.619 others(22): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 5/23 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50375832 | A | ATTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG02155.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0019others(4): Show | a0001c0001t0001g0259 a0001c0001t0007g0025 a0001c0002t0019g0083 others(5): Show |
8 | 115 | 0.0696 | 7 | c.-17 others(24): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50446377 | C | CCGGGTCT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(84): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(30): Show | a0001c0001t0002g0133 a0001c0001t0002g0144 a0001c0001t0010g0009 others(84): Show |
87 | 332 | 0.2620 | 7 | c.*21 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1288 | chr22 | TogoVar | |||||||
PPP6R3_chr11_68455752_68620334 | 68478647 | G | GTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01081.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0070 a0001c0001t0002g0002 a0001c0001t0002g0003 others(27): Show |
30 | 32 | 0.9375 | 7 | c.-15 others(28): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPP6R3_chr11_68455752_68620334 | 68506414 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01081.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(11): Show |
14 | 24 | 0.5833 | 7 | c.-15 others(28): Show |
PPP6R3 | ENSG00000110075.15 | transcript | ENST00000393800.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPWD1_chr5_65558296_65592549 | 65573516 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00621.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0061 a0001c0001t0001g0134 a0001c0002t0001g0009 others(14): Show |
24 | 185 | 0.1297 | 7 | c.969 others(24): Show |
PPWD1 | ENSG00000113593.12 | transcript | ENST00000261308.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRAC2_chr17_48718185_48729758 | 48728875 | T | TCTCTCTC | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01258.hp1 HG01978.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0008 |
4 | 94 | 0.0426 | 7 | c.*41 others(18): Show |
PRAC2 | ENSG00000229637.4 | transcript | ENST00000422730.4 | protein_coding | 4118 | chr17 | TogoVar | |||||||
PRAG1_chr8_8312736_8391439 | 8388333 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01192.hp1 others(15): Show |
a0002a0003a0004others(5): Show | a0002c0002a0002c0058a0003c0003others(8): Show | a0002c0002t0001a0002c0058t0001a0003c0003t0001others(8): Show | a0002c0002t0001g0009 a0002c0002t0001g0249 a0002c0002t0001g0268 others(15): Show |
18 | 70 | 0.2571 | 7 | c.-21 others(18): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 1895 | chr8 | TogoVar | |||||||
PRAMEF8_chr1_13276304_13290137 | 13286211 | A | AGGGAGGG | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01358.hp1 HG01515.hp2 others(10): Show |
a0001a0002a0019 | a0001c0001a0001c0027a0002c0002others(1): Show | a0001c0001t0002a0001c0027t0002a0002c0002t0001others(1): Show | a0001c0001t0002g0001 a0001c0027t0002g0037 a0002c0002t0001g0003 others(1): Show |
13 | 315 | 0.0413 | 7 | c.-11 others(18): Show |
PRAMEF8 | ENSG00000182330.11 | transcript | ENST00000357367.7 | protein_coding | 1075 | chr1 | TogoVar | |||||||
PRCC_chr1_156762535_156805815 | 156779129 | T | TATATATA | intron_variant | MODIFIER | HG01109.hp1 HG02723.hp1 HG04115.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0093 a0001c0001t0001g0153 a0001c0001t0001g0162 others(2): Show |
5 | 293 | 0.0171 | 7 | c.469 others(24): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PRDM10_chr11_129894711_130007835 | 129985803 | A | ATATATAT | intron_variant | MODIFIER | HG02155.hp2 NA18953.hp2 NA19009.hp2 |
a0001a0003 | a0001c0004a0003c0002 | a0001c0004t0002a0001c0004t0003a0003c0002t0001 | a0001c0004t0002g0114 a0001c0004t0003g0116 a0003c0002t0001g0078 |
3 | 250 | 0.0120 | 7 | c.-11 others(28): Show |
PRDM10 | ENSG00000170325.16 | transcript | ENST00000360871.8 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
PRDM12_chr9_130659594_130687983 | 130674492 | T | TGTGTGTG | intron_variant | MODIFIER | HG00673.hp2 HG02056.hp1 NA18966.hp2 |
a0001a0003 | a0001c0002a0001c0003a0003c0004 | a0001c0002t0002a0001c0003t0001a0003c0004t0001 | a0001c0002t0002g0115 a0001c0003t0001g0056 a0003c0004t0001g0161 |
3 | 45 | 0.0667 | 7 | c.571 others(24): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41806376 | C | CCACGTGG | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01243.hp1 others(8): Show |
a0001 | a0001c0010a0001c0018 | a0001c0010t0012a0001c0010t0025a0001c0010t0026others(2): Show | a0001c0010t0012g0012 a0001c0010t0012g0016 a0001c0010t0012g0018 others(8): Show |
11 | 392 | 0.0281 | 7 | c.265 others(26): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41806648 | C | CCATCACT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0004a0001c0001t0027a0001c0002t0002others(9): Show | a0001c0001t0004g0198 a0001c0001t0027g0049 a0001c0002t0002g0042 others(36): Show |
39 | 369 | 0.1057 | 7 | c.265 others(26): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41874525 | A | ATTTTTTT | intron_variant | MODIFIER | HG01192.hp1 HG02071.hp2 HG02109.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0010a0001c0001t0016a0001c0002t0002others(3): Show | a0001c0001t0010g0274 a0001c0001t0016g0150 a0001c0001t0016g0152 others(8): Show |
11 | 90 | 0.1222 | 7 | c.-10 others(24): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 1/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3079404 | C | CTTCGGGG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(101): Show | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0095 others(168): Show |
171 | 208 | 0.8221 | 7 | c.37+ others(24): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3088448 | A | ATTATTAT | intron_variant | MODIFIER | HG01891.hp2 HG03471.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0001t0012a0001c0004t0073 | a0001c0001t0011g0047 a0001c0001t0012g0129 a0001c0004t0073g0143 |
3 | 150 | 0.0200 | 7 | c.37+ others(24): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3148023 | T | TTTTGAGG | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(78): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(62): Show | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0150 others(78): Show |
81 | 208 | 0.3894 | 7 | c.38- others(24): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3284104 | G | GCCCGCCA | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02615.hp2 others(2): Show |
a0001a0002 | a0001c0004a0001c0008a0001c0021others(1): Show | a0001c0004t0007a0001c0004t0055a0001c0008t0001others(2): Show | a0001c0004t0007g0038 a0001c0004t0055g0004 a0001c0008t0001g0005 others(2): Show |
5 | 208 | 0.0240 | 7 | c.438 others(26): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM2_chr1_13695188_13830079 | 13700591 | A | AGCCGCGC | intron_variant | MODIFIER | HG03225.hp1 HG03516.hp1 NA18906.hp2 |
a0001 | a0001c0002a0001c0038 | a0001c0002t0001a0001c0038t0004 | a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0038t0004g0317 |
3 | 322 | 0.0093 | 7 | c.-66 others(22): Show |
PRDM2 | ENSG00000116731.23 | transcript | ENST00000311066.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM2_chr1_13695188_13830079 | 13741720 | T | TGTGTGTG | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 NA19083.hp1 |
a0001 | a0001c0002a0001c0026 | a0001c0002t0001a0001c0002t0003a0001c0026t0001 | a0001c0002t0001g0028 a0001c0002t0003g0293 a0001c0026t0001g0017 |
3 | 30 | 0.1000 | 7 | c.232 others(22): Show |
PRDM2 | ENSG00000116731.23 | transcript | ENST00000311066.10 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
PRDM5_chr4_120686915_120927726 | 120904189 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01169.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0001g0145 a0001c0001t0001g0197 a0001c0001t0001g0254 others(5): Show |
8 | 20 | 0.4000 | 7 | c.177 others(24): Show |
PRDM5 | ENSG00000138738.11 | transcript | ENST00000264808.8 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
PRDM5_chr4_120686915_120927726 | 120923880 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 others(13): Show |
16 | 20 | 0.8000 | 7 | c.-12 others(18): Show |
PRDM5 | ENSG00000138738.11 | transcript | ENST00000264808.8 | protein_coding | 1155 | chr4 | TogoVar | |||||||
PRDX1_chr1_45506051_45526884 | 45509416 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0016 others(8): Show |
17 | 73 | 0.2329 | 7 | c.*19 others(18): Show |
PRDX1 | ENSG00000117450.15 | transcript | ENST00000319248.13 | protein_coding | 1634 | chr1 | TogoVar | |||||||
PRDX4_chrX_23662493_23691397 | 23688330 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01975.hp2 HG03490.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0023 others(4): Show |
8 | 127 | 0.0630 | 7 | c.*19 others(18): Show |
PRDX4 | ENSG00000123131.13 | transcript | ENST00000379341.9 | protein_coding | 1934 | chrX | TogoVar | |||||||
PRDX5_chr11_64313121_64326811 | 64324797 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01358.hp2 HG02630.hp2 HG04115.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(2): Show |
7 | 85 | 0.0824 | 7 | c.*31 others(18): Show |
PRDX5 | ENSG00000126432.14 | transcript | ENST00000265462.9 | protein_coding | 2987 | chr11 | TogoVar | |||||||
PREB_chr2_27125756_27139636 | 27134629 | C | CGCGCACT | 5_prime_UTR_variant | MODIFIER | HG02451.hp1 HG03209.hp2 NA18906.hp2 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0010 | 3 | 390 | 0.0077 | 7 | c.-21 others(16): Show |
PREB | ENSG00000138073.14 | transcript | ENST00000260643.7 | protein_coding | 1/9 | 209 | chr2 | TogoVar | ||||||
PREPL_chr2_44312607_44366494 | 44340927 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01192.hp1 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0264 a0001c0001t0003g0168 a0001c0001t0005g0040 others(21): Show |
26 | 349 | 0.0745 | 7 | c.485 others(24): Show |
PREPL | ENSG00000138078.16 | transcript | ENST00000409411.6 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
PREP_chr6_105268218_105408082 | 105330619 | G | GCGGGGGA | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG02145.hp1 others(12): Show |
a0001a0002 | a0001c0004a0001c0008a0002c0002others(4): Show | a0001c0004t0008a0001c0004t0027a0001c0008t0002others(8): Show | a0001c0004t0008g0158 a0001c0004t0008g0169 a0001c0004t0008g0170 others(12): Show |
15 | 210 | 0.0714 | 7 | c.101 others(26): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 8/14 | chr6 | TogoVar | |||||||
PREP_chr6_105268218_105408082 | 105349898 | T | TAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG02280.hp2 others(10): Show |
a0001a0002 | a0001c0004a0001c0008a0002c0002others(1): Show | a0001c0004t0001a0001c0004t0066a0001c0004t0067others(8): Show | a0001c0004t0001g0065 a0001c0004t0066g0206 a0001c0004t0067g0204 others(10): Show |
13 | 119 | 0.1092 | 7 | c.823 others(24): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 7/14 | chr6 | TogoVar | |||||||
PREP_chr6_105268218_105408082 | 105397185 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01169.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(8): Show | a0001c0001t0001g0012 a0001c0001t0002g0142 a0001c0004t0001g0005 others(13): Show |
16 | 122 | 0.1311 | 7 | c.120 others(22): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
PREP_chr6_105268218_105408082 | 105397185 | C | CCAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01070.hp2 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0002c0002others(4): Show | a0001c0004t0001a0001c0004t0008a0001c0004t0014others(29): Show | a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0057 others(44): Show |
47 | 153 | 0.3072 | 7 | c.120 others(22): Show |
PREP | ENSG00000085377.15 | transcript | ENST00000652536.2 | protein_coding | 2/14 | chr6 | TogoVar | |||||||
PREX1_chr20_48619252_48832999 | 48792815 | A | ATACACAC | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01515.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0002a0001c0006t0005a0002c0002t0003others(2): Show | a0001c0001t0002g0202 a0001c0001t0002g0209 a0001c0001t0002g0210 others(11): Show |
14 | 245 | 0.0571 | 7 | c.219 others(26): Show |
PREX1 | ENSG00000124126.14 | transcript | ENST00000371941.4 | protein_coding | 1/39 | chr20 | TogoVar | |||||||
PREX2_chr8_67947046_68242032 | 67953173 | C | CCCCCCCG | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00642.hp1 others(42): Show |
a0001a0002a0005others(2): Show | a0001c0006a0001c0015a0001c0016others(27): Show | a0001c0006t0002a0001c0006t0003a0001c0006t0004others(37): Show | a0001c0006t0002g0034 a0001c0006t0003g0055 a0001c0006t0003g0057 others(42): Show |
45 | 188 | 0.2394 | 7 | c.141 others(22): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PREX2_chr8_67947046_68242032 | 68152289 | G | GAAAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG02486.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0024others(2): Show | a0001c0001t0002a0001c0003t0009a0001c0024t0002others(2): Show | a0001c0001t0002g0171 a0001c0003t0009g0144 a0001c0024t0002g0040 others(3): Show |
6 | 32 | 0.1875 | 7 | c.423 others(26): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PREX2_chr8_67947046_68242032 | 68228970 | A | AAAAAATG | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp1 others(43): Show |
a0001a0002a0005others(2): Show | a0001c0005a0001c0007a0001c0010others(24): Show | a0001c0005t0001a0001c0007t0001a0001c0010t0001others(27): Show | a0001c0005t0001g0015 a0001c0005t0001g0150 a0001c0005t0001g0164 others(43): Show |
46 | 188 | 0.2447 | 7 | c.477 others(26): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 39/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRF1_chr10_70592348_70607741 | 70604631 | C | CTTTTTCT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(128): Show |
a0001a0007a0009others(1): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0002a0001c0001t0014a0001c0002t0001others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0012 others(17): Show |
131 | 344 | 0.3808 | 7 | c.-20 others(18): Show |
PRF1 | ENSG00000180644.8 | transcript | ENST00000441259.2 | protein_coding | 1891 | chr10 | TogoVar | |||||||
PRF1_chr10_70592348_70607741 | 70604797 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(27): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0037 a0001c0001t0004g0007 others(5): Show |
30 | 43 | 0.6977 | 7 | c.-21 others(18): Show |
PRF1 | ENSG00000180644.8 | transcript | ENST00000441259.2 | protein_coding | 2057 | chr10 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42456261 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0017 | a0001c0001t0001g0059 a0001c0001t0001g0164 a0001c0001t0001g0193 others(4): Show |
7 | 89 | 0.0787 | 7 | c.*35 others(18): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 495 | chr12 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42477390 | A | AACAAAAT | intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0036 | a0001c0001t0014g0122 a0001c0001t0014g0198 a0001c0001t0014g0199 others(2): Show |
5 | 118 | 0.0424 | 7 | c.-48 others(24): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42514894 | T | TATCTATC | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00741.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0002g0014 others(7): Show |
10 | 298 | 0.0336 | 7 | c.-48 others(26): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRICKLE1_chr12_42451757_42594746 | 42519193 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00558.hp2 others(52): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0043 others(52): Show |
55 | 113 | 0.4867 | 7 | c.-48 others(26): Show |
PRICKLE1 | ENSG00000139174.12 | transcript | ENST00000345127.9 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PRICKLE2_chr3_64087236_64230466 | 64089533 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01167.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0010a0001c0001t0036others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0219 a0001c0001t0010g0065 others(5): Show |
8 | 89 | 0.0899 | 7 | c.*95 others(18): Show |
PRICKLE2 | ENSG00000163637.13 | transcript | ENST00000638394.2 | protein_coding | 2702 | chr3 | TogoVar | |||||||
PRIM1_chr12_56726580_56757323 | 56736298 | T | TAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01257.hp2 HG01258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034 a0001c0001t0001g0154 a0001c0001t0001g0155 others(5): Show |
9 | 80 | 0.1125 | 7 | c.114 others(26): Show |
PRIM1 | ENSG00000198056.16 | transcript | ENST00000338193.11 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
PRIM2_chr6_57312630_57651850 | 57374304 | T | TTTATTTA | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 others(5): Show |
8 | 295 | 0.0271 | 7 | c.460 others(24): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57418383 | G | GGTTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01261.hp2 HG01517.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0199 a0001c0001t0002g0214 a0001c0001t0002g0242 others(10): Show |
13 | 48 | 0.2708 | 7 | c.693 others(26): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | chr6 | TogoVar | |||||||
PRIM2_chr6_57312630_57651850 | 57462349 | A | ACCATATT | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 others(6): Show |
9 | 298 | 0.0302 | 7 | c.694 others(26): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | chr6 | TogoVar |