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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGAM5_chr12_132705842_132727734 | 132720250 | CCCCCTGG others(34): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0164 | 1 | 392 | 0.0026 | -41 | c.720 others(56): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230396231 | CCCCCACA others(34): Show |
C | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0110 | a0001c0002t0110g0245 | 1 | 286 | 0.0035 | -41 | c.331 others(60): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGM1_chr1_63588411_63665245 | 63633902 | GTGTGTGT others(34): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp1 HG03139.hp2 others(2): Show |
a0003a0006 | a0003c0003a0006c0007 | a0003c0003t0003a0006c0007t0001 | a0003c0003t0003g0141 a0006c0007t0001g0231 a0006c0007t0001g0249 others(2): Show |
5 | 359 | 0.0139 | -41 | c.683 others(56): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22230357 | TTACTTTG others(34): Show |
T | intron_variant | MODIFIER | HG02897.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0087 | a0001c0001t0003g0004 a0001c0001t0087g0022 |
2 | 229 | 0.0087 | -41 | c.207 others(60): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | chrX | TogoVar | |||||||
PICALM_chr11_85952175_86074084 | 86005417 | AGGCTGGG others(34): Show |
A | intron_variant | MODIFIER | NA18943.hp1 NA18970.hp1 NA18994.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0157 a0001c0001t0001g0158 others(4): Show |
7 | 356 | 0.0197 | -41 | c.808 others(58): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 8/19 | chr11 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88713210 | TGAGAGCC others(34): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0049 | a0049c0094 | a0049c0094t0001 | a0049c0094t0001g0127 | 1 | 222 | 0.0045 | -41 | c.*23 others(52): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2127 | chr16 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10795316 | ATTTTATT others(34): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0006 | 1 | 136 | 0.0074 | -41 | c.152 others(58): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 12/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10915927 | ACACAGAG others(34): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(148): Show |
a0001a0002a0003others(29): Show | a0001c0002a0001c0003a0001c0006others(86): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(99): Show | a0001c0002t0001g0097 a0001c0002t0001g0109 a0001c0002t0001g0132 others(148): Show |
151 | 158 | 0.9557 | -41 | c.287 others(58): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 3/55 | chr18 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631742 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 318 | 0.0031 | -41 | c.529 others(58): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631749 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 317 | 0.0032 | -41 | c.529 others(58): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631763 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG02056.hp2 NA18973.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0090 |
3 | 305 | 0.0098 | -41 | c.529 others(58): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631765 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 299 | 0.0033 | -41 | c.529 others(58): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196970432 | ATGCCCGG others(34): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 422 | 0.0024 | -41 | c.-17 others(52): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 1600 | chr3 | TogoVar | |||||||
PIK3CB_chr3_138647698_138839928 | 138693936 | AATATATA others(34): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0164 |
2 | 163 | 0.0123 | -41 | c.189 others(58): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | |||||||
PIK3R6_chr17_8797722_8872674 | 8827742 | GGAGAGAG others(34): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp1 HG03195.hp1 |
a0001a0003 | a0001c0005a0003c0004 | a0001c0005t0001a0003c0004t0001 | a0001c0005t0001g0342 a0003c0004t0001g0210 a0003c0004t0001g0218 |
3 | 320 | 0.0094 | -41 | c.139 others(58): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 12/19 | chr17 | TogoVar | |||||||
PIKFYVE_chr2_208261255_208363746 | 208264088 | AAGATGTG others(34): Show |
A | upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 286 | 0.0035 | -41 | c.-23 others(52): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 2166 | chr2 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130338422 | GGGGGCGA others(34): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0083 | 1 | 424 | 0.0024 | -41 | c.-13 others(56): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338464 | GGGGGCGA others(34): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0321 | 1 | 424 | 0.0024 | -41 | c.-13 others(56): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338548 | GGGGGCGA others(34): Show |
G | intron_variant | MODIFIER | HG01361.hp2 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0226 a0001c0001t0023g0225 |
2 | 423 | 0.0047 | -41 | c.-13 others(56): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338590 | GGGGGCGA others(34): Show |
G | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 422 | 0.0024 | -41 | c.-13 others(56): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100314993 | AGGAAGGA others(34): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 175 | 0.0057 | -41 | c.349 others(60): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51791953 | AAGCTATC others(34): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0009 | a0009c0056 | a0009c0056t0001 | a0009c0056t0001g0073 | 1 | 132 | 0.0076 | -41 | c.830 others(58): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
PLA2G5_chr1_20065194_20096911 | 20087511 | AGTCTCCC others(34): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 428 | 0.0023 | -41 | c.185 others(58): Show |
PLA2G5 | ENSG00000127472.11 | transcript | ENST00000375108.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298102 | GTCTATCA others(34): Show |
G | intron_variant | MODIFIER | HG02080.hp1 NA18988.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0023 | a0001c0001t0005g0035 a0001c0002t0023g0142 |
2 | 174 | 0.0115 | -41 | c.734 others(56): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298151 | GTCTATCA others(34): Show |
G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0166 | 1 | 164 | 0.0061 | -41 | c.734 others(56): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298249 | GTCTATCA others(34): Show |
G | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0111 | 1 | 174 | 0.0057 | -41 | c.734 others(56): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764920 | GAAAGGAA others(34): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01516.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0015 | a0002c0003t0003g0157 a0002c0003t0015g0040 |
2 | 283 | 0.0071 | -41 | c.-31 others(60): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLEK2_chr14_67381984_67417165 | 67398551 | TACCCTTC others(34): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(114): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0003others(2): Show | a0001c0001t0001a0001c0009t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(71): Show |
117 | 351 | 0.3333 | -41 | c.43- others(54): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
PLEK2_chr14_67381984_67417165 | 67399404 | CTCAGGTG others(34): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0074 a0001c0001t0001g0075 |
3 | 351 | 0.0085 | -41 | c.43- others(56): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
PLEK2_chr14_67381984_67417165 | 67399566 | GTCAGGTG others(34): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(112): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0006others(1): Show | a0001c0001t0001a0002c0003t0001a0005c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(68): Show |
115 | 352 | 0.3267 | -41 | c.43- others(56): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
PLEK2_chr14_67381984_67417165 | 67399646 | TTCTCAGG others(34): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02723.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0072 others(2): Show |
6 | 345 | 0.0174 | -41 | c.43- others(56): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
PLEK2_chr14_67381984_67417165 | 67399717 | GGTTTAGG others(34): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 352 | 0.0028 | -41 | c.43- others(56): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
PLEKHA7_chr11_16772297_17019414 | 16907406 | CGGCCAGC others(34): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0106 a0001c0001t0003g0154 |
2 | 241 | 0.0083 | -41 | c.222 others(60): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | |||||||
PLEKHA8_chr7_30023412_30089650 | 30056319 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | NA18990.hp1 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0168 a0001c0002t0003g0170 |
2 | 232 | 0.0086 | -41 | c.103 others(59): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PLEKHF2_chr8_95128785_95161685 | 95133664 | CGCGAGGG others(34): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 382 | 0.0026 | -41 | c.-38 others(50): Show |
PLEKHF2 | ENSG00000175895.5 | transcript | ENST00000315367.4 | protein_coding | 120 | chr8 | TogoVar | |||||||
PLEKHG3_chr14_64699424_64755249 | 64716481 | AACACACA others(34): Show |
A | intron_variant | MODIFIER | HG02622.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0073a0001c0002t0074 | a0001c0002t0073g0069 a0001c0002t0074g0071 |
2 | 241 | 0.0083 | -41 | c.-39 others(60): Show |
PLEKHG3 | ENSG00000126822.18 | transcript | ENST00000247226.13 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PLEKHS1_chr10_113746682_113788429 | 113785331 | TATATATA others(34): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02896.hp2 HG02897.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0001c0001t0022a0002c0002t0002 | a0001c0001t0012g0058 a0001c0001t0012g0059 a0001c0001t0012g0142 others(3): Show |
7 | 400 | 0.0175 | -41 | c.*45 others(52): Show |
PLEKHS1 | ENSG00000148735.16 | transcript | ENST00000694986.1 | protein_coding | 1903 | chr10 | TogoVar | |||||||
PLGRKT_chr9_5352971_5442925 | 5424417 | TATAATAT others(34): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 a0001c0001t0001g0253 |
2 | 411 | 0.0049 | -41 | c.81+ others(56): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 3/5 | chr9 | TogoVar | |||||||
PLOD3_chr7_101200984_101222581 | 101217002 | CAGGGTAG others(34): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 426 | 0.0023 | -41 | c.109 others(56): Show |
PLOD3 | ENSG00000106397.12 | transcript | ENST00000223127.8 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132188989 | GAAAGGAG others(34): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0016 | 1 | 86 | 0.0116 | -41 | c.285 others(60): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50285573 | AGCCGGCA others(34): Show |
A | intron_variant | MODIFIER | HG00621.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0076 | 1 | 263 | 0.0038 | -41 | c.208 others(58): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | |||||||
PNMA8B_chr19_46486191_46500867 | 46488499 | TCATCCTG others(34): Show |
T | downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0000 | 1 | 424 | 0.0024 | -41 | c.*50 others(52): Show |
PNMA8B | ENSG00000204851.7 | transcript | ENST00000599531.2 | protein_coding | 2691 | chr19 | TogoVar | |||||||
POF1B_chrX_85272396_85384665 | 85380006 | GCAAAGGT others(34): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0183 a0001c0001t0003g0184 a0001c0001t0013g0167 others(7): Show |
11 | 225 | 0.0489 | -41 | c.-45 others(50): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 342 | chrX | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 620882 | TGGGGGCG others(34): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01109.hp1 HG01168.hp2 others(61): Show |
a0002a0003a0004others(6): Show | a0002c0003a0002c0006a0002c0013others(14): Show | a0002c0003t0001a0002c0006t0003a0002c0013t0002others(20): Show | a0002c0003t0001g0032 a0002c0006t0003g0284 a0002c0006t0003g0285 others(61): Show |
64 | 417 | 0.1535 | -41 | c.264 others(58): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 10/20 | chr19 | TogoVar | |||||||
POM121L12_chr7_53030633_53041925 | 53039390 | TGGAAACA others(34): Show |
T | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 1 | 430 | 0.0023 | -41 | c.*28 others(52): Show |
POM121L12 | ENSG00000221900.6 | transcript | ENST00000408890.6 | protein_coding | 2466 | chr7 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149809134 | GATAGATA others(34): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0282 a0001c0001t0015g0180 |
2 | 317 | 0.0063 | -41 | c.79- others(58): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809191 | GATAGATA others(34): Show |
G | intron_variant | MODIFIER | HG02165.hp1 HG03491.hp2 NA18522.hp1 others(1): Show |
a0001a0002a0015 | a0001c0001a0002c0014a0015c0029 | a0001c0001t0044a0002c0014t0005a0015c0029t0008 | a0001c0001t0044g0064 a0002c0014t0005g0259 a0002c0014t0005g0260 others(1): Show |
4 | 316 | 0.0127 | -41 | c.79- others(58): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809362 | GATAGATA others(34): Show |
G | intron_variant | MODIFIER | HG02293.hp2 HG02738.hp1 HG02965.hp2 others(1): Show |
a0001a0005 | a0001c0004a0001c0006a0005c0026 | a0001c0004t0006a0001c0006t0001a0005c0026t0034 | a0001c0004t0006g0112 a0001c0004t0006g0193 a0001c0006t0001g0099 others(1): Show |
4 | 318 | 0.0126 | -41 | c.79- others(58): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809440 | CATAGATA others(34): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0100 | 1 | 270 | 0.0037 | -41 | c.79- others(58): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPIAL4A_chr1_120884771_120895530 | 120889446 | GAAAGAAA others(34): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01167.hp1 HG01169.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 |
38 | 276 | 0.1377 | -41 | c.-37 others(50): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 324 | chr1 | TogoVar |