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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZD2_chr5_31634131_32115932 | 32002765 | C | CCACACAC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(164): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0005a0001c0007others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0046 others(164): Show |
167 | 210 | 0.7952 | 9 | c.125 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32063027 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00673.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0044a0001c0050others(8): Show | a0001c0001t0001a0001c0044t0001a0001c0050t0036others(20): Show | a0001c0001t0001g0146 a0001c0044t0001g0184 a0001c0050t0036g0187 others(24): Show |
27 | 103 | 0.2621 | 9 | c.245 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32103395 | T | TGCAATGC others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 NA19043.hp2 |
a0001 | a0001c0034a0001c0036 | a0001c0034t0019a0001c0036t0019 | a0001c0034t0019g0212 a0001c0036t0019g0211 |
2 | 214 | 0.0093 | 9 | c.835 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101017862 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03486.hp2 NA18939.hp2 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0219 a0001c0001t0004g0242 a0001c0001t0005g0201 others(3): Show |
6 | 413 | 0.0145 | 9 | c.152 others(26): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101017866 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02027.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0111 a0001c0001t0002g0204 a0001c0001t0005g0192 others(9): Show |
12 | 415 | 0.0289 | 9 | c.152 others(26): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101017870 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(3): Show |
a0002 | a0002c0002a0002c0021 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0003 a0002c0002t0001g0159 a0002c0002t0002g0164 others(2): Show |
6 | 415 | 0.0145 | 9 | c.152 others(26): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101019542 | G | GCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01943.hp2 HG01952.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0301 a0001c0001t0003g0320 a0001c0001t0003g0321 others(21): Show |
25 | 102 | 0.2451 | 9 | c.929 others(24): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 7/16 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117333118 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01106.hp1 others(45): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0025others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0188 a0001c0001t0001g0192 others(44): Show |
48 | 317 | 0.1514 | 9 | c.995 others(26): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117333126 | A | ACAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0184 a0001c0001t0020g0185 a0001c0001t0020g0186 |
3 | 320 | 0.0094 | 9 | c.995 others(26): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117366592 | T | TACCACCA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(135): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(39): Show | a0001c0001t0001g0196 a0001c0001t0006g0018 a0001c0001t0025g0195 others(135): Show |
138 | 317 | 0.4353 | 9 | c.872 others(26): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73386226 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0002g0050 a0001c0001t0002g0135 a0001c0001t0002g0171 others(14): Show |
17 | 75 | 0.2267 | 9 | c.151 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 8/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73390635 | A | AATGTGTG others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0013 | a0001c0001t0002a0001c0004t0002a0001c0013t0002 | a0001c0001t0002g0048 a0001c0001t0002g0129 a0001c0004t0002g0198 others(2): Show |
5 | 189 | 0.0265 | 9 | c.135 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 6/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73491592 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00735.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(18): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0040 others(45): Show |
48 | 113 | 0.4248 | 9 | c.919 others(28): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73563014 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03471.hp2 HG03490.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0005t0001a0002c0003t0005others(1): Show | a0001c0001t0002g0153 a0001c0005t0001g0199 a0002c0003t0005g0164 others(1): Show |
4 | 190 | 0.0211 | 9 | c.918 others(28): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41214430 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03195.hp1 HG03209.hp2 others(11): Show |
a0002a0006a0010others(1): Show | a0002c0002a0002c0016a0002c0061others(5): Show | a0002c0002t0001a0002c0016t0001a0002c0061t0001others(5): Show | a0002c0002t0001g0099 a0002c0016t0001g0101 a0002c0061t0001g0100 others(11): Show |
14 | 59 | 0.2373 | 9 | c.843 others(28): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41326150 | A | ATTTTTGC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(156): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0010others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(55): Show | a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0085 others(156): Show |
159 | 206 | 0.7718 | 9 | c.843 others(30): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41378520 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01109.hp1 others(40): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0113 others(40): Show |
43 | 107 | 0.4019 | 9 | c.844 others(30): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41390562 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02486.hp2 HG02622.hp2 others(7): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0004a0003c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0004g0006 others(7): Show |
10 | 77 | 0.1299 | 9 | c.844 others(30): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77182749 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0004a0001c0001t0012a0001c0001t0031others(15): Show | a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0012g0188 others(107): Show |
110 | 211 | 0.5213 | 9 | c.-11 others(26): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77225657 | G | GTATAATT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01258.hp1 others(5): Show |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0003a0008c0010t0003 | a0003c0003t0003g0125 a0003c0003t0003g0140 a0003c0003t0003g0149 others(5): Show |
8 | 269 | 0.0297 | 9 | c.-11 others(30): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77226044 | G | GATATATA others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01258.hp2 HG02523.hp2 others(13): Show |
a0001a0002a0004 | a0001c0004a0002c0002a0004c0005 | a0001c0004t0019a0001c0004t0021a0002c0002t0002others(1): Show | a0001c0004t0019g0307 a0001c0004t0019g0308 a0001c0004t0021g0305 others(13): Show |
16 | 188 | 0.0851 | 9 | c.-11 others(30): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
PEAR1_chr1_156888718_156921429 | 156911076 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01256.hp1 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0007a0002c0001others(10): Show | a0001c0002t0003a0001c0007t0003a0002c0001t0001others(12): Show | a0001c0002t0003g0002 a0001c0007t0003g0051 a0002c0001t0001g0001 others(24): Show |
44 | 227 | 0.1938 | 9 | c.195 others(26): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22795164 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01258.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0007others(7): Show | a0001c0001t0001g0118 a0001c0001t0002g0187 a0001c0001t0002g0202 others(9): Show |
12 | 230 | 0.0522 | 9 | c.357 others(28): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22910934 | A | ACTATGGA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0018a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0018t0002others(6): Show | a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0101 others(33): Show |
36 | 276 | 0.1304 | 9 | c.258 others(26): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PECAM1_chr17_64314415_64395860 | 64349587 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01952.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0115 a0001c0001t0001g0189 a0001c0001t0001g0198 others(3): Show |
6 | 47 | 0.1277 | 9 | c.204 others(26): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 12/15 | chr17 | TogoVar | |||||||
PELI1_chr2_64087652_64149420 | 64146493 | G | GCTTTTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(165): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(137): Show |
168 | 302 | 0.5563 | 9 | c.-24 others(20): Show |
PELI1 | ENSG00000197329.12 | transcript | ENST00000358912.5 | protein_coding | 2074 | chr2 | TogoVar | |||||||
PELI2_chr14_56113411_56306524 | 56168750 | C | CCCATAGC others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02055.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0003g0007 a0001c0001t0003g0078 a0001c0001t0008g0148 others(3): Show |
7 | 366 | 0.0191 | 9 | c.78- others(24): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4668957 | T | TATATAAC others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(3): Show |
a0001a0008 | a0001c0004a0001c0030a0008c0031 | a0001c0004t0004a0001c0030t0004a0008c0031t0004 | a0001c0004t0004g0040 a0001c0004t0004g0205 a0001c0004t0004g0207 others(3): Show |
6 | 311 | 0.0193 | 9 | c.*24 others(20): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 816 | chr17 | TogoVar | |||||||
PELP1_chr17_4664774_4709137 | 4685792 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(46): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0206 a0001c0001t0001g0244 a0001c0001t0001g0245 others(43): Show |
49 | 272 | 0.1801 | 9 | c.421 others(26): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 3/16 | chr17 | TogoVar | |||||||
PER1_chr17_8135472_8157404 | 8137081 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG02055.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0010a0001c0011others(5): Show | a0001c0001t0001a0001c0010t0002a0001c0011t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0034 others(12): Show |
20 | 310 | 0.0645 | 9 | c.*39 others(20): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 3390 | chr17 | TogoVar | |||||||
PER1_chr17_8135472_8157404 | 8139665 | G | GGGAACCA others(2): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 HG04115.hp2 HG04199.hp2 |
a0001a0011 | a0001c0001a0011c0025 | a0001c0001t0001a0011c0025t0001 | a0001c0001t0001g0004 a0001c0001t0001g0091 a0011c0025t0001g0087 |
3 | 424 | 0.0071 | 9 | c.*14 others(20): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 806 | chr17 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7796319 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01243.hp1 others(18): Show |
a0002a0004a0008others(1): Show | a0002c0002a0004c0006a0008c0015others(1): Show | a0002c0002t0001a0002c0002t0012a0004c0006t0001others(2): Show | a0002c0002t0001g0191 a0002c0002t0001g0203 a0002c0002t0001g0238 others(18): Show |
21 | 68 | 0.3088 | 9 | c.645 others(26): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806808 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18965.hp2 NA19087.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0299 a0002c0002t0001g0217 a0002c0002t0001g0260 |
3 | 301 | 0.0100 | 9 | c.113 others(28): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7806810 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01257.hp2 HG02083.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0009others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0277 a0001c0001t0001g0291 others(6): Show |
9 | 177 | 0.0508 | 9 | c.113 others(28): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7806812 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01358.hp2 HG02738.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 a0002c0002t0001g0206 a0002c0002t0001g0242 |
3 | 44 | 0.0682 | 9 | c.113 others(28): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10520148 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02809.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0106 a0001c0001t0001g0227 a0001c0001t0001g0229 others(4): Show |
7 | 139 | 0.0504 | 9 | c.85- others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX1_chr7_92482025_92533520 | 92516038 | G | GAAAAAAG others(2): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02074.hp2 HG02165.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0074 others(4): Show |
10 | 293 | 0.0341 | 9 | c.123 others(28): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
PEX5L_chr3_179789958_180041937 | 179874726 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02148.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0169 others(5): Show |
8 | 159 | 0.0503 | 9 | c.630 others(24): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196403 | T | TAATAATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00642.hp1 others(54): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0013 others(36): Show |
57 | 425 | 0.1341 | 9 | c.449 others(26): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PEX6_chr6_42958865_42984181 | 42961550 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01175.hp2 others(12): Show |
a0001a0016 | a0001c0003a0016c0024 | a0001c0003t0003a0016c0024t0003 | a0001c0003t0003g0004 a0001c0003t0003g0005 a0001c0003t0003g0013 others(5): Show |
15 | 130 | 0.1154 | 9 | c.*27 others(20): Show |
PEX6 | ENSG00000124587.14 | transcript | ENST00000304611.13 | protein_coding | 2314 | chr6 | TogoVar | |||||||
PFAS_chr17_8244289_8275486 | 8248410 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01891.hp1 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0078 others(11): Show |
17 | 84 | 0.2024 | 9 | c.-10 others(20): Show |
PFAS | ENSG00000178921.14 | transcript | ENST00000314666.11 | protein_coding | 878 | chr17 | TogoVar | |||||||
PFKL_chr21_44295053_44332373 | 44303440 | A | AGACTTGA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01070.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0300 others(28): Show |
41 | 386 | 0.1062 | 9 | c.86- others(24): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/21 | chr21 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3097077 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01433.hp2 others(29): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0002g0023 a0001c0001t0002g0224 a0001c0001t0002g0309 others(29): Show |
32 | 108 | 0.2963 | 9 | c.187 others(26): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3098672 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01361.hp1 HG01928.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0002g0301 a0001c0001t0004g0368 a0001c0001t0006g0130 others(13): Show |
16 | 24 | 0.6667 | 9 | c.187 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3102250 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01081.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0002g0296 a0001c0002t0002g0150 a0001c0002t0003g0109 others(5): Show |
8 | 46 | 0.1739 | 9 | c.454 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3134446 | T | TTAAATAG others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG00741.hp2 others(37): Show |
a0001a0005a0010 | a0001c0007a0001c0008a0001c0010others(9): Show | a0001c0007t0005a0001c0007t0019a0001c0008t0005others(10): Show | a0001c0007t0005g0011 a0001c0007t0005g0032 a0001c0007t0005g0094 others(37): Show |
40 | 400 | 0.1000 | 9 | c.202 others(24): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 19/21 | chr10 | TogoVar | |||||||
PFN1_chr17_4940652_4953530 | 4949611 | A | AGGGCGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0008 |
4 | 430 | 0.0093 | 9 | c.-12 others(20): Show |
PFN1 | ENSG00000108518.8 | transcript | ENST00000225655.6 | protein_coding | 1082 | chr17 | TogoVar | |||||||
PGA3_chr11_61198515_61218098 | 61201211 | A | AAAGTGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01496.hp2 HG02280.hp2 others(6): Show |
a0002 | a0002c0002a0002c0017 | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(1): Show | a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0083 others(5): Show |
9 | 310 | 0.0290 | 9 | c.-23 others(20): Show |
PGA3 | ENSG00000229859.10 | transcript | ENST00000325558.11 | protein_coding | 2303 | chr11 | TogoVar | |||||||
PGAM5_chr12_132705842_132727734 | 132707728 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01243.hp1 others(35): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(6): Show | a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0013 others(28): Show |
38 | 206 | 0.1845 | 9 | c.-31 others(20): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 3113 | chr12 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 381399 | C | CGGCGCCG others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02647.hp2 others(9): Show |
a0001a0015 | a0001c0001a0001c0004a0015c0031 | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(3): Show | a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0004t0001g0050 others(8): Show |
12 | 374 | 0.0321 | 9 | c.121 others(24): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar |