| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00741.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0028others(3): Show | a0001c0001t0001g0189a0002c0002t0001g0170a0002c0002t0001g0196others(4): Show | 7 | 386 | 0.0181 | 30 | c.776 others(47): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 386 | 0.0026 | 30 | c.776 others(47): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PNPLA6_chr19_7530717_7566764 | 7558907 | A | AGATACCA others(23): Show |
conservative_inframe_insertion | MODERATE | NA19010.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0310 | 1 | 416 | 0.0024 | 30 | c.345 others(39): Show |
p.Gln others(45): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 28/32 | 3529/4372 | 3457/4098 | 1153/1365 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| PNPLA7_chr9_137454952_137555402 | 137475010 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0029 | a0029c0038 | a0029c0038t0001 | a0029c0038t0001g0153 | 1 | 188 | 0.0053 | 30 | c.288 others(49): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 25/34 | chr9 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137504178 | G | GAAGAAGA others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0173 | 1 | 188 | 0.0053 | 30 | c.147 others(49): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
| PNPT1_chr2_55629061_55698844 | 55695278 | T | TAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0122a0001c0001t0008g0196a0001c0001t0008g0203 | 3 | 390 | 0.0077 | 30 | c.-14 others(41): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1435 | chr2 | TogoVar | ||||||
| PODNL1_chr19_13926187_13943417 | 13929777 | A | AGGGAGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0034 | 1 | 432 | 0.0023 | 30 | c.*19 others(41): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 1409 | chr19 | TogoVar | ||||||
| PODNL1_chr19_13926187_13943417 | 13929867 | A | AGGGAGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 432 | 0.0046 | 30 | c.*18 others(41): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 1319 | chr19 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131499777 | T | TTGTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG03710.hp2 |
a0003a0006 | a0003c0002a0006c0010 | a0003c0002t0003a0006c0010t0002 | a0003c0002t0003g0236a0006c0010t0002g0004 | 3 | 440 | 0.0068 | 30 | c.*45 others(41): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 493 | chr7 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131499780 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG02723.hp1 |
a0003a0005 | a0003c0002a0005c0058 | a0003c0002t0001a0005c0058t0006 | a0003c0002t0001g0250a0005c0058t0006g0326 | 2 | 440 | 0.0046 | 30 | c.*45 others(41): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 490 | chr7 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131524379 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0194 | 1 | 440 | 0.0023 | 30 | c.101 others(49): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131524379 | C | CACACAGA others(23): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19000.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0060a0004c0004t0001g0342 | 2 | 440 | 0.0046 | 30 | c.101 others(49): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131524379 | C | CACAGAGA others(23): Show |
intron_variant | MODIFIER | NA18940.hp1 NA19083.hp1 |
a0002a0005 | a0002c0003a0005c0006 | a0002c0003t0002a0005c0006t0002 | a0002c0003t0002g0279a0005c0006t0002g0370 | 2 | 440 | 0.0046 | 30 | c.101 others(49): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| POFUT2_chr21_45258935_45292895 | 45291299 | A | ATTTTGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 30 | c.-34 others(41): Show |
POFUT2 | ENSG00000186866.17 | transcript | ENST00000349485.10 | protein_coding | 3405 | chr21 | TogoVar | ||||||
| POLA1_chrX_24688918_25001986 | 24921892 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 197 | 0.0051 | 30 | c.416 others(49): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| POLD3_chr11_74587582_74648076 | 74609372 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0212 | 1 | 400 | 0.0025 | 30 | c.220 others(47): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POLD3_chr11_74587582_74648076 | 74632877 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0212 | 1 | 400 | 0.0025 | 30 | c.100 others(49): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POLD4_chr11_67345772_67358546 | 67347588 | C | CAACAGAG others(23): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 314 | 0.0032 | 30 | c.*44 others(41): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3183 | chr11 | TogoVar | ||||||
| POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01952.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0037a0001c0001t0002g0021a0001c0001t0002g0157others(3): Show | 10 | 340 | 0.0294 | 30 | c.438 others(45): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
| POLE4_chr2_74953643_74975128 | 74958402 | G | GCACAGGC others(23): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 476 | 0.0021 | 30 | c.-27 others(39): Show |
POLE4 | ENSG00000115350.12 | transcript | ENST00000483063.2 | protein_coding | 240 | chr2 | TogoVar | ||||||
| POLE_chr12_132618762_132692342 | 132658881 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0040 | a0002c0040t0001 | a0002c0040t0001g0263 | 1 | 292 | 0.0034 | 30 | c.327 others(47): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 26/48 | chr12 | TogoVar | ||||||
| POLN_chr4_2066918_2247121 | 2096686 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0147 | 1 | 194 | 0.0052 | 30 | c.198 others(47): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 19/25 | chr4 | TogoVar | ||||||
| POLR2D_chr2_127838553_127863155 | 127856290 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0074a0001c0001t0076 | a0001c0001t0074g0244a0001c0001t0076g0243 | 2 | 358 | 0.0056 | 30 | c.73+ others(45): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
| POLR2J_chr7_102468128_102483922 | 102473506 | G | GACACGTC others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(201): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0012others(42): Show | 204 | 410 | 0.4976 | 30 | c.*11 others(39): Show |
POLR2J | ENSG00000005075.16 | transcript | ENST00000292614.10 | protein_coding | 4/4 | 142 | chr7 | TogoVar | |||||
| POLR2J_chr7_102468128_102483922 | 102473508 | C | CACGTCGG others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0067 | 1 | 410 | 0.0024 | 30 | c.*14 others(39): Show |
POLR2J | ENSG00000005075.16 | transcript | ENST00000292614.10 | protein_coding | 4/4 | 140 | chr7 | TogoVar | |||||
| POLR3B_chr12_106352748_106515198 | 106479796 | C | CTTCTTTT others(23): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG01515.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0001g0030others(11): Show | 14 | 304 | 0.0461 | 30 | c.271 others(51): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| POLR3G_chr5_90469864_90519557 | 90514755 | A | AACACACA others(23): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02132.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0038 | a0001c0001t0010g0009a0001c0001t0038g0097 | 3 | 366 | 0.0082 | 30 | c.*26 others(41): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 199 | chr5 | TogoVar | ||||||
| POLRMT_chr19_612221_638537 | 626898 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0271 | 1 | 422 | 0.0024 | 30 | c.823 others(47): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3/20 | chr19 | TogoVar | ||||||
| POM121C_chr7_75411786_75491299 | 75442236 | T | TGGAGCGC others(23): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0016 | a0016c0027 | a0016c0027t0003 | a0016c0027t0003g0057 | 1 | 308 | 0.0033 | 30 | c.-15 others(47): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 3/14 | chr7 | TogoVar | ||||||
| POMZP3_chr7_76604986_76632279 | 76620861 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0064 | 1 | 423 | 0.0024 | 30 | c.228 others(47): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
| PON1_chr7_95292676_95329532 | 95302096 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 434 | 0.0023 | 30 | c.909 others(45): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 8/8 | chr7 | TogoVar | ||||||
| POP7_chr7_100701121_100712486 | 100710266 | G | GTGTGTAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 382 | 0.0052 | 30 | c.*30 others(41): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2781 | chr7 | TogoVar | ||||||
| POSTN_chr13_37557585_37603768 | 37564181 | C | CTTGTATA others(23): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0297a0001c0001t0003g0275 | 2 | 416 | 0.0048 | 30 | c.247 others(47): Show |
POSTN | ENSG00000133110.15 | transcript | ENST00000379747.9 | protein_coding | 22/22 | chr13 | TogoVar | ||||||
| POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG02698.hp1 NA18747.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0038others(1): Show | a0001c0003t0001g0001a0001c0003t0003g0001a0001c0003t0003g0019others(2): Show | 5 | 416 | 0.0120 | 30 | c.*47 others(41): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | ||||||
| POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG04115.hp1 |
a0008 | a0008c0009 | a0008c0009t0014 | a0008c0009t0014g0021a0008c0009t0014g0233 | 2 | 416 | 0.0048 | 30 | c.*47 others(41): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | ||||||
| POTEM_chr14_18962434_19008752 | 18969357 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03654.hp2 NA18994.hp2 |
a0004 | a0004c0004 | a0004c0004t0034a0004c0004t0035 | a0004c0004t0034g0008a0004c0004t0035g0007 | 2 | 67 | 0.0299 | 30 | c.521 others(47): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| POU2AF2_chr11_111240725_111291401 | 111280057 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0089 | 1 | 380 | 0.0026 | 30 | c.121 others(47): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POU6F2_chr7_38972909_39473601 | 39005484 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03654.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0034a0001c0001t0002g0040a0001c0001t0005g0033 | 3 | 170 | 0.0177 | 30 | c.105 others(49): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| POU6F2_chr7_38972909_39473601 | 39068490 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 170 | 0.0059 | 30 | c.106 others(49): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| POU6F2_chr7_38972909_39473601 | 39397814 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp1 |
a0001a0004 | a0001c0002a0004c0016 | a0001c0002t0001a0004c0016t0001 | a0001c0002t0001g0089a0004c0016t0001g0092 | 2 | 170 | 0.0118 | 30 | c.973 others(47): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PPA1_chr10_70197835_70238429 | 70206865 | A | AGGAGGGG others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01123.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0047others(40): Show | 48 | 408 | 0.1177 | 30 | c.726 others(45): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
| PPA2_chr4_105364077_105479062 | 105460856 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 366 | 0.0027 | 30 | c.158 others(47): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
| PPA2_chr4_105364077_105479062 | 105460858 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086a0001c0001t0002g0189a0001c0001t0002g0190others(1): Show | 4 | 366 | 0.0109 | 30 | c.158 others(47): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
| PPARA_chr22_46145526_46248755 | 46146490 | A | AGAAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0160 | 1 | 200 | 0.0050 | 30 | c.-43 others(41): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4035 | chr22 | TogoVar | ||||||
| PPARD_chr6_35337558_35433178 | 35377871 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 238 | 0.0042 | 30 | c.-10 others(51): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PPARD_chr6_35337558_35433178 | 35415778 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(3): Show | a0001c0002t0003g0016a0001c0002t0003g0035a0001c0002t0003g0036others(9): Show | 12 | 238 | 0.0504 | 30 | c.131 others(47): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PPARGC1B_chr5_149725310_149860022 | 149750453 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 320 | 0.0031 | 30 | c.78+ others(47): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PPARG_chr3_12284070_12439344 | 12406532 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 294 | 0.0034 | 30 | c.729 others(45): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPARG_chr3_12284070_12439344 | 12427211 | A | ATTCCGTT others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(183): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(183): Show | 186 | 294 | 0.6327 | 30 | c.118 others(49): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPDPF_chr20_63515765_63527206 | 63520752 | T | TCCGCGCG others(23): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 394 | 0.0025 | 30 | c.-16 others(39): Show |
PPDPF | ENSG00000125534.10 | transcript | ENST00000370179.8 | protein_coding | 12 | chr20 | TogoVar |