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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLR3K_chr16_41407_58608 | 52765 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01361.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0017 others(4): Show |
10 | 323 | 0.0310 | 9 | c.111 others(24): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 615946 | C | CCCGCCGC others(2): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 HG03927.hp2 NA19074.hp2 |
a0004a0030a0038 | a0004c0004a0030c0054a0038c0035 | a0004c0004t0001a0030c0054t0001a0038c0035t0003 | a0004c0004t0001g0035 a0030c0054t0001g0034 a0038c0035t0003g0264 |
3 | 416 | 0.0072 | 9 | c.*13 others(20): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 1274 | chr19 | TogoVar | |||||||
POM121C_chr7_75411786_75491299 | 75462038 | A | AAAAATAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01123.hp1 HG01168.hp2 others(49): Show |
a0002a0003a0005others(4): Show | a0002c0003a0002c0012a0002c0037others(9): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0030others(15): Show | a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0120 others(49): Show |
52 | 306 | 0.1699 | 9 | c.-15 others(30): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 3/14 | chr7 | TogoVar | |||||||
POM121_chr7_72920095_72953299 | 72925128 | C | CCGGCGGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00741.hp1 HG01109.hp2 others(3): Show |
a0014 | a0014c0014a0014c0044 | a0014c0014t0001a0014c0044t0044 | a0014c0014t0001g0045 a0014c0014t0001g0061 a0014c0014t0001g0114 others(2): Show |
6 | 421 | 0.0143 | 9 | c.17_ others(14): Show |
p.Ala others(9): Show |
POM121 | ENSG00000196313.13 | transcript | ENST00000434423.5 | protein_coding | 1/13 | 53/5842 | 26/3750 | 9/1249 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
POMC_chr2_25155860_25173580 | 25161587 | C | CGCCGCTG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00733.hp1 HG00735.hp2 HG01070.hp2 others(35): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 a0002c0003t0001g0014 a0002c0003t0001g0026 others(4): Show |
38 | 416 | 0.0913 | 9 | c.289 others(16): Show |
p.Gly others(21): Show |
POMC | ENSG00000115138.11 | transcript | ENST00000395826.7 | protein_coding | 3/3 | 400/1128 | 297/804 | 99/267 | chr2 | TogoVar | |||
POMGNT1_chr1_46183683_46203434 | 46198533 | C | CGGCGGCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02602.hp1 HG02738.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0003t0001g0006 others(1): Show |
5 | 401 | 0.0125 | 9 | c.-25 others(18): Show |
POMGNT1 | ENSG00000085998.15 | transcript | ENST00000371984.8 | protein_coding | 100 | chr1 | TogoVar | |||||||
POMGNT1_chr1_46183683_46203434 | 46202920 | G | GGGGTGGT others(2): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG01934.hp1 HG03490.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0011 |
13 | 249 | 0.0522 | 9 | c.-46 others(20): Show |
POMGNT1 | ENSG00000085998.15 | transcript | ENST00000371984.8 | protein_coding | 4487 | chr1 | TogoVar | |||||||
POMGNT1_chr1_46183683_46203434 | 46202920 | G | GGTGGTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG03017.hp2 NA18969.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0040 |
5 | 241 | 0.0207 | 9 | c.-46 others(20): Show |
POMGNT1 | ENSG00000085998.15 | transcript | ENST00000371984.8 | protein_coding | 4487 | chr1 | TogoVar | |||||||
POMP_chr13_28654130_28683959 | 28654886 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01074.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0047 others(3): Show |
10 | 59 | 0.1695 | 9 | c.-42 others(20): Show |
POMP | ENSG00000132963.9 | transcript | ENST00000380842.5 | protein_coding | 4243 | chr13 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76614564 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(62): Show |
a0002a0005a0009 | a0002c0002a0002c0013a0005c0005others(1): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(7): Show | a0002c0002t0003g0159 a0002c0002t0004g0024 a0002c0002t0004g0025 others(55): Show |
65 | 246 | 0.2642 | 9 | c.346 others(26): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
PON1_chr7_95292676_95329532 | 95302096 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01891.hp1 HG02965.hp1 others(5): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(2): Show | a0001c0001t0001g0151 a0001c0001t0004g0024 a0001c0001t0004g0130 others(4): Show |
8 | 158 | 0.0506 | 9 | c.909 others(24): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
PON1_chr7_95292676_95329532 | 95322326 | A | AATATGTA others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0017a0001c0001t0018a0002c0002t0009 | a0001c0001t0017g0050 a0001c0001t0018g0049 a0002c0002t0009g0047 others(1): Show |
4 | 372 | 0.0108 | 9 | c.74+ others(24): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75975814 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(11): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(12): Show | a0001c0002t0001g0042 a0001c0002t0001g0079 a0001c0002t0001g0090 others(41): Show |
44 | 82 | 0.5366 | 9 | c.228 others(26): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POT1_chr7_124817386_124934825 | 124884963 | C | CTAGGAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(13): Show |
16 | 344 | 0.0465 | 9 | c.124 others(26): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 6/18 | chr7 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAC others(2): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0016others(1): Show | a0001c0001t0007g0006 a0001c0001t0008g0032 a0001c0001t0008g0038 others(3): Show |
10 | 141 | 0.0709 | 9 | c.*47 others(20): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTEE_chr2_131204536_131270278 | 131212570 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0032 | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(1): Show | a0001c0001t0001g0164 a0001c0001t0001g0181 a0001c0001t0003g0199 others(3): Show |
6 | 55 | 0.1091 | 9 | c.-18 others(28): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POU1F1_chr3_87254404_87281584 | 87257942 | C | CAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01081.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0015 others(17): Show |
27 | 192 | 0.1406 | 9 | c.*19 others(20): Show |
POU1F1 | ENSG00000064835.12 | transcript | ENST00000350375.7 | protein_coding | 1461 | chr3 | TogoVar | |||||||
POU2AF2_chr11_111240725_111291401 | 111276453 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02056.hp2 NA18987.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0042 a0001c0001t0003g0166 a0001c0001t0003g0210 others(3): Show |
6 | 130 | 0.0462 | 9 | c.121 others(26): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111276453 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01255.hp2 HG01346.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0245 a0001c0001t0003g0005 a0001c0001t0003g0007 others(5): Show |
9 | 133 | 0.0677 | 9 | c.121 others(26): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111276453 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02055.hp2 HG02155.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0147 a0001c0001t0003g0176 others(1): Show |
4 | 128 | 0.0313 | 9 | c.121 others(26): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
POU2F1_chr1_167215886_167432340 | 167358737 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0152 others(46): Show |
49 | 163 | 0.3006 | 9 | c.128 others(26): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
POU2F3_chr11_120235140_120324945 | 120288128 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG01243.hp1 others(14): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0047 others(14): Show |
17 | 106 | 0.1604 | 9 | c.133 others(28): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120304330 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00673.hp2 others(89): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0026 others(89): Show |
92 | 270 | 0.3407 | 9 | c.445 others(24): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120304339 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01243.hp1 others(41): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0069 others(41): Show |
44 | 216 | 0.2037 | 9 | c.445 others(24): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU3F3_chr2_104849115_104863574 | 104863159 | A | AATTATTA others(2): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 NA18994.hp1 NA19087.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000 a0001c0002t0002g0000 |
3 | 104 | 0.0288 | 9 | c.*61 others(20): Show |
POU3F3 | ENSG00000198914.5 | transcript | ENST00000361360.4 | protein_coding | 4586 | chr2 | TogoVar | |||||||
POU4F2_chr4_146633893_146647474 | 146639305 | T | TGGCGGCG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00609.hp2 HG01168.hp2 HG01169.hp1 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0002 | a0004c0005t0001g0002 a0004c0005t0002g0001 |
6 | 112 | 0.0536 | 9 | c.192 others(16): Show |
p.Gly others(11): Show |
POU4F2 | ENSG00000151615.3 | transcript | ENST00000281321.3 | protein_coding | 1/2 | 449/3144 | 201/1230 | 67/409 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
POU4F3_chr5_146333839_146346728 | 146335079 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 others(6): Show |
103 | 245 | 0.4204 | 9 | c.-40 others(20): Show |
POU4F3 | ENSG00000091010.6 | transcript | ENST00000646991.2 | protein_coding | 3759 | chr5 | TogoVar | |||||||
POU4F3_chr5_146333839_146346728 | 146335113 | A | AATAATAA others(2): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 NA20300.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 |
3 | 334 | 0.0090 | 9 | c.-40 others(20): Show |
POU4F3 | ENSG00000091010.6 | transcript | ENST00000646991.2 | protein_coding | 3725 | chr5 | TogoVar | |||||||
POU5F1B_chr8_127410867_127421946 | 127417210 | A | AAAAAGAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(118): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(3): Show | a0001c0001t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 others(3): Show |
121 | 380 | 0.3184 | 9 | c.*26 others(18): Show |
POU5F1B | ENSG00000212993.6 | transcript | ENST00000696633.1 | protein_coding | 265 | chr8 | TogoVar | |||||||
POU5F1B_chr8_127410867_127421946 | 127417211 | G | GAAAGAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp2 others(108): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0002c0002t0001a0003c0006t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0006t0001g0000 |
111 | 202 | 0.5495 | 9 | c.*26 others(18): Show |
POU5F1B | ENSG00000212993.6 | transcript | ENST00000696633.1 | protein_coding | 266 | chr8 | TogoVar | |||||||
POU5F2_chr5_93728220_93746600 | 93744434 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01261.hp1 HG02055.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(4): Show |
24 | 234 | 0.1026 | 9 | c.-28 others(20): Show |
POU5F2 | ENSG00000248483.7 | transcript | ENST00000606183.4 | protein_coding | 2835 | chr5 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 38996035 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02071.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0002a0002c0003t0001a0002c0004t0003others(1): Show | a0001c0001t0002g0068 a0001c0001t0002g0074 a0002c0003t0001g0067 others(2): Show |
5 | 7 | 0.7143 | 9 | c.105 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39002336 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02071.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(8): Show | a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0139 others(14): Show |
17 | 157 | 0.1083 | 9 | c.105 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39190417 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0005t0001others(1): Show | a0001c0001t0002g0004 a0001c0001t0004g0093 a0001c0005t0001g0002 others(2): Show |
5 | 20 | 0.2500 | 9 | c.278 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39382043 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | NA18950.hp1 NA19080.hp2 |
a0001 | a0001c0007 | a0001c0007t0001a0001c0007t0010 | a0001c0007t0001g0071 a0001c0007t0010g0044 |
2 | 139 | 0.0144 | 9 | c.973 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70221077 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0106 |
3 | 376 | 0.0080 | 9 | c.124 others(26): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46198237 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01433.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0170 others(12): Show |
15 | 135 | 0.1111 | 9 | c.-42 others(22): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35377871 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0001g0086 a0001c0002t0002g0003 a0001c0002t0004g0004 others(8): Show |
11 | 135 | 0.0815 | 9 | c.-10 others(30): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35404951 | C | CGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0002t0006 | a0001c0001t0021g0047 a0001c0002t0006g0028 |
2 | 233 | 0.0086 | 9 | c.-10 others(28): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149799693 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01069.hp1 others(38): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0220 a0001c0001t0001g0240 a0001c0001t0001g0312 others(38): Show |
41 | 75 | 0.5467 | 9 | c.79- others(26): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809379 | A | ATCTCTAC others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02273.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0022 | a0001c0001t0020a0001c0004t0006a0001c0004t0030others(1): Show | a0001c0001t0020g0137 a0001c0004t0006g0210 a0001c0004t0030g0113 others(1): Show |
4 | 318 | 0.0126 | 9 | c.79- others(26): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12298298 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01243.hp1 HG01978.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show |
7 | 85 | 0.0824 | 9 | c.-83 others(26): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12298324 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 others(4): Show |
7 | 270 | 0.0259 | 9 | c.-83 others(26): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12406532 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18979.hp1 NA18982.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(4): Show |
7 | 103 | 0.0680 | 9 | c.729 others(24): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75893861 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(148): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0021a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0058 others(147): Show |
151 | 268 | 0.5634 | 9 | c.56- others(24): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2/16 | chr4 | TogoVar | |||||||
PPEF2_chr4_75854867_75907452 | 75903018 | C | CATTATTA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(77): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 others(77): Show |
80 | 83 | 0.9639 | 9 | c.-84 others(18): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 567 | chr4 | TogoVar | |||||||
PPFIA3_chr19_49114544_49156026 | 49154632 | T | TTCCTCCT others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG02723.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0018a0002c0002 | a0001c0001t0001a0001c0018t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0047 others(5): Show |
11 | 255 | 0.0431 | 9 | c.*44 others(20): Show |
PPFIA3 | ENSG00000177380.14 | transcript | ENST00000334186.9 | protein_coding | 3607 | chr19 | TogoVar | |||||||
PPFIBP1_chr12_27519206_27700564 | 27563277 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02027.hp2 others(23): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0102 others(23): Show |
26 | 63 | 0.4127 | 9 | c.-12 others(30): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27644244 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18747.hp2 NA18966.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0003a0006c0011t0001 | a0001c0001t0001g0285 a0001c0001t0003g0042 a0001c0001t0003g0083 others(3): Show |
6 | 26 | 0.2308 | 9 | c.271 others(26): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27670782 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG02165.hp1 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0068 others(18): Show |
21 | 33 | 0.6364 | 9 | c.114 others(26): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |