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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDSS2_chr6_107147562_107464564 | 107225155 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02738.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0002g0073 a0001c0001t0002g0074 |
3 | 243 | 0.0123 | -17 | c.703 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107225157 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0003 a0001c0001t0014g0223 |
2 | 233 | 0.0086 | -17 | c.703 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107227278 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0105 others(25): Show |
28 | 41 | 0.6829 | -17 | c.703 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107429894 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 258 | 0.0039 | -17 | c.296 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDXP_chr22_37653723_37671932 | 37661917 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 55 | 0.0182 | -17 | c.574 others(34): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31641460 | GCTAAGGA others(10): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG02523.hp2 NA18948.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0003a0002c0003t0020a0003c0004t0005others(1): Show | a0001c0001t0003g0032 a0002c0003t0020g0033 a0003c0004t0005g0031 others(1): Show |
4 | 214 | 0.0187 | -17 | c.-36 others(36): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31730575 | TGTGTGTG others(10): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03098.hp2 HG03471.hp1 others(2): Show |
a0001a0002a0028 | a0001c0001a0002c0002a0028c0054 | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0001g0070 a0001c0001t0008g0065 a0001c0001t0016g0096 others(2): Show |
5 | 214 | 0.0234 | -17 | c.-36 others(38): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31908082 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0086 a0002c0002t0005g0007 |
2 | 64 | 0.0313 | -17 | c.477 others(36): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02523.hp2 HG02630.hp1 others(2): Show |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0012a0002c0003t0013a0003c0005t0014 | a0002c0003t0012g0300 a0002c0003t0013g0301 a0003c0005t0014g0130 others(2): Show |
5 | 116 | 0.0431 | -17 | c.872 others(36): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01993.hp1 HG01993.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0224 a0001c0001t0001g0286 a0001c0001t0010g0004 |
3 | 214 | 0.0140 | -17 | c.872 others(36): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73416875 | GGTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 205 | 0.0049 | -17 | c.919 others(36): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73453407 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0162 | 1 | 214 | 0.0047 | -17 | c.919 others(36): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73565117 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(133): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 others(133): Show |
136 | 153 | 0.8889 | -17 | c.918 others(36): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73608370 | CCAAACAG others(10): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp2 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 others(22): Show |
25 | 214 | 0.1168 | -17 | c.810 others(32): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 2/9 | chr3 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 2 | 0.5000 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402135 | ATATATAC others(10): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0147 | 1 | 206 | 0.0049 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402160 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0009a0003c0005others(3): Show | a0001c0004t0001a0001c0004t0005a0002c0009t0001others(5): Show | a0001c0004t0001g0011 a0001c0004t0001g0157 a0001c0004t0005g0051 others(13): Show |
16 | 206 | 0.0777 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402266 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01192.hp2 NA18612.hp2 |
a0003a0023 | a0003c0006a0023c0050 | a0003c0006t0001a0023c0050t0001 | a0003c0006t0001g0124 a0023c0050t0001g0023 |
2 | 206 | 0.0097 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402293 | ATATATAC others(10): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02886.hp2 HG03195.hp2 others(2): Show |
a0002a0003a0004 | a0002c0016a0003c0005a0004c0003 | a0002c0016t0001a0003c0005t0001a0004c0003t0001 | a0002c0016t0001g0186 a0002c0016t0001g0187 a0003c0005t0001g0053 others(2): Show |
5 | 205 | 0.0244 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402318 | ATATACAC others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18978.hp1 |
a0010a0020 | a0010c0051a0020c0062 | a0010c0051t0001a0020c0062t0001 | a0010c0051t0001g0021 a0020c0062t0001g0202 |
2 | 191 | 0.0105 | -17 | c.844 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77226053 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA19068.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0193 | 1 | 232 | 0.0043 | -17 | c.-11 others(38): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77298197 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01069.hp1 NA18975.hp1 NA19011.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0008 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0086 others(1): Show |
4 | 6 | 0.6667 | -17 | c.-60 others(38): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77377520 | TCAGCTCA others(10): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(2): Show | a0001c0001t0005g0317 a0001c0001t0010g0313 a0001c0001t0010g0315 others(4): Show |
7 | 318 | 0.0220 | -17 | c.-66 others(38): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77391476 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG03540.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022a0001c0001t0030 | a0001c0001t0004g0246 a0001c0001t0022g0289 a0001c0001t0030g0259 |
3 | 77 | 0.0390 | -17 | c.-66 others(38): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22727310 | GAGGAGGA others(10): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp2 HG02004.hp1 others(11): Show |
a0002a0004a0006others(2): Show | a0002c0002a0002c0021a0004c0003others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0021t0002others(7): Show | a0002c0002t0001g0077 a0002c0002t0002g0167 a0002c0002t0002g0245 others(11): Show |
14 | 276 | 0.0507 | -17 | c.358 others(31): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22898389 | CCCAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG03225.hp2 |
a0002a0003 | a0002c0002a0003c0007a0003c0033 | a0002c0002t0002a0003c0007t0003a0003c0033t0008 | a0002c0002t0002g0245 a0003c0007t0003g0097 a0003c0033t0008g0026 |
3 | 84 | 0.0357 | -17 | c.258 others(36): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEG3_chr19_56805082_56845726 | 56836969 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(252): Show |
a0001a0002a0006others(20): Show | a0001c0001a0001c0003a0001c0004others(29): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(58): Show | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0031 others(121): Show |
255 | 271 | 0.9410 | -17 | c.-24 others(34): Show |
PEG3 | ENSG00000198300.14 | transcript | ENST00000326441.15 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
PELP1_chr17_4664774_4709137 | 4668936 | TATATATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(111): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0006a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(97): Show |
114 | 258 | 0.4419 | -17 | c.*24 others(28): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 837 | chr17 | TogoVar | |||||||
PER1_chr17_8135472_8157404 | 8147684 | TGTGGCGG others(10): Show |
T | frameshift_variant | HIGH | NA18972.hp1 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0121 | 1 | 424 | 0.0024 | -17 | c.136 others(26): Show |
p.Phe others(5): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 11/23 | 1584/4676 | 1361/3873 | 454/1290 | chr17 | TogoVar | |||
PERCC1_chr16_1426078_1439441 | 1432886 | GGCGGTAC others(10): Show |
G | frameshift_variant | HIGH | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0002 | 1 | 376 | 0.0027 | -17 | c.294 others(24): Show |
p.Arg others(4): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 372/1926 | 294/804 | 98/267 | chr16 | TogoVar | |||
PERM1_chr1_970198_987093 | 984609 | TTCTTATT others(10): Show |
T | upstream_gene_variant | MODIFIER | NA19240.hp1 | a0023 | a0023c0023 | a0023c0023t0002 | a0023c0023t0002g0052 | 1 | 406 | 0.0025 | -17 | c.-27 others(28): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2517 | chr1 | TogoVar | |||||||
PES1_chr22_30571625_30596910 | 30574607 | GCCGCGCC others(10): Show |
G | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 429 | 0.0023 | -17 | c.*24 others(28): Show |
PES1 | ENSG00000100029.18 | transcript | ENST00000354694.12 | protein_coding | 2017 | chr22 | TogoVar | |||||||
PEX11G_chr19_7471875_7494035 | 7483063 | GCCCCCTT others(10): Show |
G | intron_variant | MODIFIER | NA18951.hp1 NA19056.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 a0001c0002t0001g0121 |
2 | 413 | 0.0048 | -17 | c.250 others(32): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PEX12_chr17_35569795_35583571 | 35581473 | TTTATATA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01123.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0010a0001c0001t0017others(1): Show | a0001c0001t0008g0029 a0001c0001t0010g0013 a0001c0001t0017g0037 others(1): Show |
9 | 434 | 0.0207 | -17 | c.-34 others(28): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2903 | chr17 | TogoVar | |||||||
PEX12_chr17_35569795_35583571 | 35583115 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0002 a0001c0001t0004g0004 a0001c0001t0005g0014 others(4): Show |
24 | 104 | 0.2308 | -17 | c.-51 others(28): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4545 | chr17 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10496738 | CTGTACTG others(10): Show |
C | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 256 | 0.0039 | -17 | c.84+ others(32): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0146 |
2 | 232 | 0.0086 | -17 | c.170 others(36): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0251 | 1 | 226 | 0.0044 | -17 | c.170 others(36): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 179874726 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 152 | 0.0066 | -17 | c.630 others(32): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 6/14 | chr3 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7189771 | GGGCCCGG others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(123): Show |
156 | 426 | 0.3662 | -17 | c.-17 others(30): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7203181 | ATGCACTG others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00621.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0183 a0001c0001t0003g0189 a0001c0001t0004g0208 others(26): Show |
34 | 340 | 0.1000 | -17 | c.847 others(32): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 7 | 31 | 0.2258 | -17 | c.-22 others(26): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | |||||||
PFDN4_chr20_54203087_54224961 | 54223120 | ACCCCACA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG01891.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 others(9): Show |
22 | 234 | 0.0940 | -17 | c.*39 others(28): Show |
PFDN4 | ENSG00000101132.10 | transcript | ENST00000371419.7 | protein_coding | 3160 | chr20 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6200672 | GGGGCGGG others(10): Show |
G | upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 1 | 430 | 0.0023 | -17 | c.-25 others(28): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 2259 | chr10 | TogoVar | |||||||
PFKFB4_chr3_48512684_48561803 | 48529316 | AAGTCATA others(10): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 244 | 0.0041 | -17 | c.988 others(34): Show |
PFKFB4 | ENSG00000114268.12 | transcript | ENST00000232375.8 | protein_coding | 9/13 | chr3 | TogoVar | |||||||
PFKL_chr21_44295053_44332373 | 44300726 | GGCTGCCC others(10): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00733.hp2 others(126): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0065 others(104): Show |
129 | 390 | 0.3308 | -17 | c.85+ others(30): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PFKL_chr21_44295053_44332373 | 44304732 | CGGGGGGC others(10): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01496.hp1 others(20): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0065 a0001c0001t0001g0116 a0001c0001t0001g0119 others(18): Show |
23 | 390 | 0.0590 | -17 | c.86- others(32): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PFKM_chr12_48114364_48151404 | 48129210 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0179 a0001c0001t0001g0180 others(2): Show |
6 | 52 | 0.1154 | -17 | c.86- others(32): Show |
PFKM | ENSG00000152556.17 | transcript | ENST00000359794.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3106872 | ACCCCTGC others(10): Show |
A | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0097 | 1 | 400 | 0.0025 | -17 | c.775 others(32): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3121814 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0151 | 1 | 400 | 0.0025 | -17 | c.168 others(36): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |