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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLOD1_chr1_11929717_11980537 | 11967597 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0318 | 1 | 380 | 0.0026 | 28 | c.175 others(45): Show |
PLOD1 | ENSG00000083444.17 | transcript | ENST00000196061.5 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLPP1_chr5_55419854_55539964 | 55436961 | A | AGAGATCC others(21): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 294 | 0.0034 | 28 | c.549 others(45): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
PLPP1_chr5_55419854_55539964 | 55444741 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03225.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0123 a0001c0001t0001g0152 |
3 | 294 | 0.0102 | 28 | c.492 others(45): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
PLPP1_chr5_55419854_55539964 | 55444743 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 294 | 0.0034 | 28 | c.492 others(45): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
PLPP1_chr5_55419854_55539964 | 55458887 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 294 | 0.0034 | 28 | c.491 others(45): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56518715 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0242 | 1 | 336 | 0.0030 | 28 | c.633 others(45): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56538959 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01255.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0269 a0001c0001t0004g0270 |
2 | 336 | 0.0060 | 28 | c.140 others(45): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557008 | A | AAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0239 | 1 | 336 | 0.0030 | 28 | c.140 others(47): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557040 | G | GAGAAAGA others(21): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 | 1 | 336 | 0.0030 | 28 | c.140 others(47): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557052 | G | GAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 a0001c0001t0003g0103 |
2 | 336 | 0.0060 | 28 | c.140 others(47): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPPR1_chr9_101023727_101330135 | 101167141 | G | GGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18974.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0187 a0001c0003t0001g0039 |
2 | 203 | 0.0099 | 28 | c.-45 others(47): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101316616 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 203 | 0.0049 | 28 | c.814 others(43): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR3_chr19_807488_826955 | 821798 | C | CGGGGGGG others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 398 | 0.0025 | 28 | c.-27 others(43): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
PLPPR5_chr1_98885245_99009861 | 98928548 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0056 others(27): Show |
30 | 280 | 0.1071 | 28 | c.622 others(45): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PLPPR5_chr1_98885245_99009861 | 98954677 | C | CAGTAAGA others(21): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0007 | a0003c0007t0010 | a0003c0007t0010g0191 | 1 | 280 | 0.0036 | 28 | c.371 others(45): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
PLS1_chr3_142591393_142718664 | 142630938 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001a0002c0003t0002 | a0001c0001t0002g0104 a0002c0003t0001g0121 a0002c0003t0002g0114 |
3 | 276 | 0.0109 | 28 | c.-36 others(47): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17382272 | A | AAAAGAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 a0001c0001t0001g0397 |
2 | 436 | 0.0046 | 28 | c.-49 others(39): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4931 | chr19 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17382276 | A | AAAAGAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0321 others(3): Show |
6 | 436 | 0.0138 | 28 | c.-49 others(39): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4935 | chr19 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17382276 | A | AGAAAGAA others(21): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 436 | 0.0023 | 28 | c.-49 others(39): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4935 | chr19 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128087 | C | CTATGTAT others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG02074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005 | a0001c0001t0001g0140 a0001c0001t0001g0183 a0001c0001t0001g0229 others(4): Show |
7 | 320 | 0.0219 | 28 | c.255 others(47): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128089 | C | CTATGTAT others(21): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03239.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0030 | a0001c0001t0010g0117 a0001c0002t0030g0138 |
2 | 320 | 0.0063 | 28 | c.255 others(47): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39128117 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 320 | 0.0031 | 28 | c.255 others(47): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129688 | A | AAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01928.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0002t0005a0001c0002t0033others(3): Show | a0001c0001t0004g0181 a0001c0002t0005g0214 a0001c0002t0005g0218 others(4): Show |
7 | 320 | 0.0219 | 28 | c.255 others(45): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129688 | A | AAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 320 | 0.0031 | 28 | c.255 others(45): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129691 | A | AGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0014a0001c0001t0022others(1): Show | a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0014g0262 others(4): Show |
7 | 320 | 0.0219 | 28 | c.255 others(45): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129711 | G | GGAAAGAA others(21): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01884.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0004g0081 others(7): Show |
10 | 320 | 0.0313 | 28 | c.255 others(45): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 20044122 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02486.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0001c0001t0084a0001c0001t0085others(2): Show | a0001c0001t0015g0164 a0001c0001t0084g0141 a0001c0001t0085g0103 others(2): Show |
5 | 180 | 0.0278 | 28 | c.325 others(45): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20044122 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01069.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(27): Show | a0001c0001t0001g0133 a0001c0001t0003g0168 a0001c0001t0010g0013 others(29): Show |
32 | 180 | 0.1778 | 28 | c.325 others(45): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20044211 | G | GTCTTTCT others(21): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 180 | 0.0056 | 28 | c.325 others(45): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20146488 | T | TTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0052 | 1 | 180 | 0.0056 | 28 | c.665 others(45): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATGTA others(21): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0099 | 1 | 180 | 0.0056 | 28 | c.131 others(47): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXNA2_chr1_208017242_208249384 | 208209983 | A | AATTTTTT others(21): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18522.hp1 NA18955.hp2 |
a0001a0007 | a0001c0001a0001c0018a0007c0017 | a0001c0001t0021a0001c0018t0003a0007c0017t0007 | a0001c0001t0021g0264 a0001c0018t0003g0087 a0007c0017t0007g0075 |
3 | 312 | 0.0096 | 28 | c.137 others(45): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 3/31 | chr1 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132132410 | C | CTGTTCTG others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 |
a0001 | a0001c0006a0001c0028 | a0001c0006t0005a0001c0028t0005 | a0001c0006t0005g0061 a0001c0028t0005g0073 |
2 | 88 | 0.0227 | 28 | c.558 others(45): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 31/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132191772 | A | ATCTCTCT others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0022 | 1 | 88 | 0.0114 | 28 | c.285 others(47): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132311193 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0042 | 1 | 88 | 0.0114 | 28 | c.137 others(49): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0061 | 1 | 88 | 0.0114 | 28 | c.137 others(49): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50303696 | A | AGGGCCCC others(21): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0009 | a0009c0020 | a0009c0020t0011 | a0009c0020t0011g0011 | 1 | 302 | 0.0033 | 28 | c.-74 others(45): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 1/36 | chr22 | TogoVar | |||||||
PLXNB3_chrX_153759249_153784341 | 153772123 | G | GGGTGGAG others(21): Show |
intron_variant | MODIFIER | NA20129.hp2 NA21309.hp1 |
a0002a0031 | a0002c0014a0031c0042 | a0002c0014t0002a0031c0042t0001 | a0002c0014t0002g0123 a0031c0042t0001g0062 |
2 | 308 | 0.0065 | 28 | c.267 others(43): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 15/35 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLXNB3_chrX_153759249_153784341 | 153772123 | G | GGGTGGAG others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(125): Show |
a0001a0006a0009others(10): Show | a0001c0001a0001c0004a0001c0007others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(60): Show |
128 | 308 | 0.4156 | 28 | c.267 others(43): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 15/35 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PM20D1_chr1_205823025_205855132 | 205853436 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01069.hp1 others(21): Show |
a0002a0004a0009others(2): Show | a0002c0001a0002c0009a0004c0004others(3): Show | a0002c0001t0001a0002c0001t0002a0002c0009t0001others(4): Show | a0002c0001t0001g0176 a0002c0001t0002g0001 a0002c0001t0002g0014 others(17): Show |
24 | 416 | 0.0577 | 28 | c.-33 others(39): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3305 | chr1 | TogoVar | |||||||
PM20D1_chr1_205823025_205855132 | 205853447 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0028 | 1 | 416 | 0.0024 | 28 | c.-33 others(39): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3316 | chr1 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(21): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 330 | 0.0061 | 28 | c.-45 others(39): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(21): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0021 |
2 | 330 | 0.0061 | 28 | c.-45 others(39): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8827866 | T | TGTATAAT others(21): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0034 | 1 | 408 | 0.0025 | 28 | c.639 others(47): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8851977 | C | CCTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 408 | 0.0025 | 28 | c.*41 others(39): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2653 | chr16 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8851977 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0263 |
2 | 408 | 0.0049 | 28 | c.*41 others(39): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2653 | chr16 | TogoVar | |||||||
PNCK_chrX_153664733_153678813 | 153677590 | A | ATATATAT others(21): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 276 | 0.0036 | 28 | c.-38 others(39): Show |
PNCK | ENSG00000130822.16 | transcript | ENST00000340888.8 | protein_coding | 3778 | chrX | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218315057 | T | TCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02040.hp2 HG02080.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0191 a0001c0001t0001g0228 a0001c0001t0001g0232 others(5): Show |
8 | 280 | 0.0286 | 28 | c.237 others(47): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNKD_chr2_218265519_218351793 | 218315057 | T | TCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01515.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0207 a0001c0001t0002g0176 a0001c0001t0002g0199 others(8): Show |
11 | 280 | 0.0393 | 28 | c.237 others(47): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNKD_chr2_218265519_218351793 | 218315057 | T | TCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 NA18973.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0100 a0001c0001t0001g0150 a0001c0001t0002g0171 others(2): Show |
5 | 280 | 0.0179 | 28 | c.237 others(47): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |