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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PACSIN1_chr6_34461076_34540223 | 34531829 | CCTGGATT others(46): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0009g0171 others(7): Show |
10 | 308 | 0.0325 | -53 | c.122 others(70): Show |
PACSIN1 | ENSG00000124507.11 | transcript | ENST00000244458.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9766366 | TATATTCA others(46): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02486.hp2 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0022a0002c0001t0001a0002c0001t0005 | a0001c0002t0022g0059 a0002c0001t0001g0124 a0002c0001t0005g0185 |
3 | 188 | 0.0160 | -53 | c.-16 others(74): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PAPPA2_chr1_176458175_176850601 | 176696290 | ATGGCTGA others(46): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 a0001c0001t0007g0106 |
2 | 116 | 0.0172 | -53 | c.274 others(70): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116289133 | TATATATA others(46): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 NA18906.hp2 others(1): Show |
a0002a0012 | a0002c0003a0002c0004a0012c0043 | a0002c0003t0027a0002c0004t0017a0002c0004t0052others(1): Show | a0002c0003t0027g0040 a0002c0004t0017g0039 a0002c0004t0052g0038 others(1): Show |
4 | 232 | 0.0172 | -53 | c.295 others(74): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300614 | TTTCTTTC others(46): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02602.hp2 HG02895.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 others(7): Show |
10 | 260 | 0.0385 | -53 | c.-27 others(72): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 758342 | CTCCGGAC others(46): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0341 | 1 | 361 | 0.0028 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 758615 | TTCTTTCT others(46): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0336 | 1 | 363 | 0.0028 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 758680 | GCGCGGCC others(46): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0057others(3): Show | a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 others(39): Show |
42 | 364 | 0.1154 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 758708 | TTCCGGAC others(46): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0341 | 1 | 300 | 0.0033 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 758708 | TTCCGGAC others(46): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0053 | a0001c0003t0053g0134 | 1 | 300 | 0.0033 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 758814 | CTCCGGAC others(46): Show |
C | intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0297 | 1 | 228 | 0.0044 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 758920 | TTCCGGAC others(46): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02723.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0053 a0001c0001t0004g0258 a0001c0001t0004g0355 others(2): Show |
5 | 305 | 0.0164 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 758966 | CTTCTCGC others(46): Show |
C | intron_variant | MODIFIER | HG03041.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0286 a0001c0001t0004g0356 |
2 | 343 | 0.0058 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759178 | CTTCTCCT others(46): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0021a0001c0005t0021 | a0001c0001t0008g0317 a0001c0001t0021g0220 a0001c0005t0021g0265 |
3 | 310 | 0.0097 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759238 | TTCCGGAC others(46): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG01891.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0175 a0001c0001t0003g0018 a0001c0001t0003g0019 others(21): Show |
25 | 320 | 0.0781 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759291 | CTCCGGAC others(46): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00738.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0062 | a0001c0001t0002g0328 a0001c0001t0002g0331 a0001c0001t0002g0332 others(4): Show |
7 | 186 | 0.0376 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759291 | CTCCGGAC others(46): Show |
T | intron_variant | MODIFIER | HG03704.hp2 NA18946.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0176 |
3 | 182 | 0.0165 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 759496 | CTTCTCCT others(46): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0019 | a0001c0001t0002g0175 a0001c0001t0004g0004 a0001c0001t0004g0115 others(16): Show |
19 | 274 | 0.0693 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759549 | GTTCTCCT others(46): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0231 a0002c0002t0001g0232 |
2 | 183 | 0.0109 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759672 | CGGGTCTT others(46): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0025a0001c0003t0053 | a0001c0001t0007g0226 a0001c0001t0025g0116 a0001c0001t0025g0117 others(1): Show |
4 | 363 | 0.0110 | -53 | c.463 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCM1_chr8_17917988_18034948 | 18002025 | TTTTTTTT others(46): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 366 | 0.0027 | -53 | c.482 others(72): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46395543 | GTAATAAA others(46): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0043 | a0043c0086 | a0043c0086t0001 | a0043c0086t0001g0069 | 1 | 330 | 0.0030 | -53 | c.421 others(72): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 21/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17468305 | CGTAGACA others(46): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0259 | 1 | 246 | 0.0041 | -53 | c.143 others(72): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17468329 | TCAGCATC others(46): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0041a0001c0001t0057others(1): Show | a0001c0001t0003g0057 a0001c0001t0041g0221 a0001c0001t0057g0019 others(1): Show |
4 | 246 | 0.0163 | -53 | c.143 others(72): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PDE6G_chr17_81645459_81661542 | 81652798 | TCGCGATC others(46): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(333): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(64): Show |
336 | 432 | 0.7778 | -53 | c.146 others(68): Show |
PDE6G | ENSG00000185527.12 | transcript | ENST00000331056.10 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10782060 | AATTCTAG others(46): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0016 | a0001c0003t0008g0013 a0001c0003t0016g0283 |
4 | 340 | 0.0118 | -53 | c.*21 others(64): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1330 | chr2 | TogoVar | |||||||
PES1_chr22_30571625_30596910 | 30589688 | CACACAGC others(46): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02886.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0021 a0002c0002t0003g0057 a0002c0002t0003g0058 others(1): Show |
7 | 430 | 0.0163 | -53 | c.25- others(66): Show |
PES1 | ENSG00000100029.18 | transcript | ENST00000354694.12 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7201307 | ATACACAT others(46): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0187 | 1 | 426 | 0.0023 | -53 | c.552 others(68): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16312089 | CCCCCCCA others(46): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01433.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 a0001c0001t0003g0132 a0001c0001t0003g0133 others(5): Show |
8 | 244 | 0.0328 | -53 | c.427 others(70): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGM_chr1_160019953_160036990 | 160036878 | TGGTAAGA others(46): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 430 | 0.0023 | -53 | c.-51 others(64): Show |
PIGM | ENSG00000143315.8 | transcript | ENST00000368090.5 | protein_coding | 4889 | chr1 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631741 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 303 | 0.0033 | -53 | c.529 others(70): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PITPNA_chr17_1512718_1567792 | 1551005 | GTTGCGGG others(46): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(59): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(52): Show |
62 | 366 | 0.1694 | -53 | c.197 others(70): Show |
PITPNA | ENSG00000174238.16 | transcript | ENST00000313486.12 | protein_coding | 3/11 | chr17 | TogoVar | |||||||
PITPNM2_chr12_122978480_123156090 | 123027476 | GACTGGTA others(46): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0012 | 1 | 228 | 0.0044 | -53 | c.78+ others(68): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2128037 | CAGGGAGG others(46): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 214 | 0.0047 | -53 | c.215 others(70): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 1/45 | chr16 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51788711 | TACCTCAT others(46): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG02717.hp1 others(3): Show |
a0014a0018a0027others(3): Show | a0014c0071a0018c0070a0027c0073others(3): Show | a0014c0071t0013a0018c0070t0008a0027c0073t0005others(3): Show | a0014c0071t0013g0093 a0018c0070t0008g0090 a0027c0073t0005g0094 others(3): Show |
6 | 132 | 0.0455 | -53 | c.844 others(72): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 53/66 | chr6 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402106 | CCCCCGAC others(46): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0001 | 1 | 208 | 0.0048 | -53 | c.173 others(70): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402577 | CCCCGCTC others(46): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02027.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0004 | a0001c0001t0001g0072 a0001c0005t0001g0090 a0001c0005t0001g0091 others(1): Show |
4 | 200 | 0.0200 | -53 | c.173 others(70): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9168922 | CCAAGCAG others(46): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01175.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(23): Show |
26 | 138 | 0.1884 | -53 | c.-78 others(72): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298152 | TCTATCAC others(46): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0152 | 1 | 167 | 0.0060 | -53 | c.734 others(68): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 306222 | GCAGATTA others(46): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0051a0001c0003t0098 | a0001c0003t0051g0076 a0001c0003t0098g0087 |
2 | 174 | 0.0115 | -53 | c.*68 others(64): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 2867 | chrX | TogoVar | |||||||
PLEKHA7_chr11_16772297_17019414 | 16884000 | TCTTTTTA others(46): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(45): Show |
a0001a0008a0013 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0020 others(45): Show |
48 | 242 | 0.1983 | -53 | c.222 others(72): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 101008 | AAATCCAT others(46): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0048 | a0001c0048t0002 | a0001c0048t0002g0057 | 1 | 142 | 0.0070 | -53 | c.45+ others(68): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101498 | CCTGGGAA others(46): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0078 | a0001c0002t0078g0035 | 1 | 205 | 0.0049 | -53 | c.45+ others(68): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLXNA4_chr7_132118340_132581470 | 132563818 | CTCCTCCT others(46): Show |
C | intron_variant | MODIFIER | HG03831.hp2 HG03927.hp2 |
a0001a0005 | a0001c0031a0005c0015 | a0001c0031t0002a0005c0015t0001 | a0001c0031t0002g0083 a0005c0015t0001g0084 |
2 | 86 | 0.0233 | -53 | c.-87 others(72): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137511126 | TGCCTGGG others(46): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 186 | 0.0054 | -53 | c.122 others(72): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 12/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137511174 | ACCAGCGC others(46): Show |
A | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 186 | 0.0054 | -53 | c.122 others(72): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 12/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137550712 | GCCGCTGG others(46): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03098.hp2 NA18522.hp1 |
a0001a0003a0014 | a0001c0045a0003c0057a0014c0022 | a0001c0045t0001a0003c0057t0001a0014c0022t0001 | a0001c0045t0001g0175 a0003c0057t0001g0176 a0014c0022t0001g0174 |
3 | 186 | 0.0161 | -53 | c.-56 others(62): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 311 | chr9 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988712 | GGAAGGCC others(46): Show |
G | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02738.hp1 HG04204.hp2 others(2): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0231 a0001c0004t0001g0264 a0001c0006t0001g0202 others(2): Show |
5 | 272 | 0.0184 | -53 | c.*22 others(64): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1858 | chr7 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149809122 | GATAGATA others(46): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01106.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(18): Show | a0001c0001t0001g0053 a0001c0001t0001g0143 a0001c0001t0001g0240 others(35): Show |
38 | 311 | 0.1222 | -53 | c.79- others(70): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809179 | GATAGATA others(46): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01074.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0018a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018 a0001c0001t0001g0074 a0001c0001t0001g0149 others(17): Show |
20 | 317 | 0.0631 | -53 | c.79- others(70): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |