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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLPPR1_chr9_101023727_101330135 | 101167141 | G | GGGGTGTG others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0185 | 1 | 51 | 0.0196 | 30 | c.-45 others(49): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101167141 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 51 | 0.0196 | 30 | c.-45 others(49): 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(23): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01255.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0020 others(21): Show |
24 | 127 | 0.1890 | 30 | c.814 others(45): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR3_chr19_807488_826955 | 814169 | A | ACCCTGGG others(23): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02647.hp2 HG02922.hp1 others(4): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0002 | a0005c0006t0001g0009 a0005c0006t0002g0044 |
7 | 396 | 0.0177 | 30 | c.831 others(45): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
PLPPR5_chr1_98885245_99009861 | 98920593 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0091 | 1 | 84 | 0.0119 | 30 | c.798 others(47): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
PLPPR5_chr1_98885245_99009861 | 98928548 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00673.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0179 others(8): Show |
11 | 107 | 0.1028 | 30 | c.622 others(47): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PLS1_chr3_142591393_142718664 | 142600916 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 111 | 0.0090 | 30 | c.-37 others(47): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17382276 | A | AAGAAAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01258.hp1 HG01346.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0271 a0001c0001t0001g0310 others(6): Show |
9 | 172 | 0.0523 | 30 | c.-49 others(41): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4935 | chr19 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 20129529 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18959.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0004a0003c0003t0008 | a0002c0002t0004g0111 a0003c0003t0008g0114 |
2 | 158 | 0.0127 | 30 | c.542 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0110 | 1 | 113 | 0.0088 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0071 | a0001c0001t0055g0023 a0001c0001t0071g0074 |
2 | 114 | 0.0175 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238668 | T | TATATATG others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0046a0001c0001t0087others(1): Show | a0001c0001t0001g0132 a0001c0001t0046g0008 a0001c0001t0087g0095 others(1): Show |
4 | 116 | 0.0345 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238679 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 178 | 0.0056 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0019a0002c0002t0026 | a0002c0002t0019g0102 a0002c0002t0026g0157 |
2 | 135 | 0.0148 | 30 | c.131 others(49): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20284330 | T | TATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0066a0001c0001t0122 | a0001c0001t0066g0168 a0001c0001t0122g0051 |
2 | 83 | 0.0241 | 30 | c.*45 others(41): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 14/14 | 4513 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PLXNA4_chr7_132118340_132581470 | 132365360 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 50 | 0.0200 | 30 | c.137 others(51): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132562930 | C | CCCTCCTC others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0004a0001c0003t0002others(10): Show | a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0002t0004g0025 others(13): Show |
16 | 69 | 0.2319 | 30 | c.-87 others(49): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PM20D1_chr1_205823025_205855132 | 205853436 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01256.hp1 others(18): Show |
a0002a0004a0011others(2): Show | a0002c0001a0002c0009a0002c0016others(5): Show | a0002c0001t0001a0002c0001t0002a0002c0009t0001others(6): Show | a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0002g0001 others(15): Show |
21 | 237 | 0.0886 | 30 | c.-33 others(41): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3305 | chr1 | TogoVar | |||||||
PM20D1_chr1_205823025_205855132 | 205853447 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG03579.hp2 |
a0002a0009 | a0002c0009a0009c0011 | a0002c0009t0001a0009c0011t0001 | a0002c0009t0001g0029 a0009c0011t0001g0123 |
2 | 401 | 0.0050 | 30 | c.-33 others(41): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3316 | chr1 | TogoVar | |||||||
PM20D2_chr6_89141055_89170565 | 89141977 | A | ATTTATTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00733.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0014 others(17): Show |
56 | 301 | 0.1860 | 30 | c.-41 others(41): Show |
PM20D2 | ENSG00000146281.6 | transcript | ENST00000275072.5 | protein_coding | 4077 | chr6 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8827859 | T | TATATATT others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(2): Show |
5 | 403 | 0.0124 | 30 | c.639 others(49): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0074 | 1 | 45 | 0.0222 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0114 | 1 | 45 | 0.0222 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 NA20129.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0032a0002c0004t0001 | a0002c0002t0032g0063 a0002c0004t0001g0005 |
2 | 46 | 0.0435 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 NA20752.hp1 |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0039 | a0002c0004t0001g0069 a0002c0004t0039g0275 |
2 | 46 | 0.0435 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAAAATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 45 | 0.0222 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 1 | 45 | 0.0222 | 30 | c.-95 others(39): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218315038 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0260 others(3): Show |
6 | 11 | 0.5455 | 30 | c.237 others(49): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNLIPRP1_chr10_116585959_116614175 | 116599256 | G | GAAAATAA others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01081.hp2 others(23): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0004c0005t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0105 others(12): Show |
26 | 87 | 0.2989 | 30 | c.815 others(45): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153399278 | A | ATATTGAT others(23): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0015 | a0015c0020 | a0015c0020t0032 | a0015c0020t0032g0120 | 1 | 344 | 0.0029 | 30 | c.-71 others(45): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 1/1 | chrX | TogoVar | |||||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0007 | 1 | 351 | 0.0028 | 30 | c.-20 others(41): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | |||||||
PNOC_chr8_28312268_28348351 | 28330362 | C | CTTTATTT others(23): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0190 | 1 | 370 | 0.0027 | 30 | c.126 others(47): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00741.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0028others(3): Show | a0001c0001t0001g0187 a0002c0002t0001g0170 a0002c0002t0001g0196 others(4): Show |
7 | 138 | 0.0507 | 30 | c.776 others(47): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0202 | 1 | 132 | 0.0076 | 30 | c.776 others(47): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA6_chr19_7530717_7566764 | 7558907 | A | AGATACCA others(23): Show |
conservative_inframe_insertion | MODERATE | NA19010.hp2 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0137 | 1 | 414 | 0.0024 | 30 | c.345 others(39): Show |
p.Gln others(45): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 28/32 | 3529/4372 | 3457/4098 | 1153/1365 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
PNPLA7_chr9_137454952_137555402 | 137475010 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0024 | a0024c0036 | a0024c0036t0001 | a0024c0036t0001g0153 | 1 | 71 | 0.0141 | 30 | c.288 others(49): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 25/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137504178 | G | GAAGAAGA others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0173 | 1 | 186 | 0.0054 | 30 | c.147 others(49): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55695278 | T | TAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0158 a0001c0001t0008g0137 a0001c0001t0008g0161 |
3 | 151 | 0.0199 | 30 | c.-14 others(41): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1435 | chr2 | TogoVar | |||||||
PODNL1_chr19_13926187_13943417 | 13929777 | A | AGGGAGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0034 | 1 | 430 | 0.0023 | 30 | c.*19 others(41): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 1409 | chr19 | TogoVar | |||||||
PODNL1_chr19_13926187_13943417 | 13929867 | A | AGGGAGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 427 | 0.0047 | 30 | c.*18 others(41): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 1319 | chr19 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499777 | T | TTGTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG03710.hp2 |
a0004a0006 | a0004c0002a0006c0010 | a0004c0002t0003a0006c0010t0002 | a0004c0002t0003g0234 a0006c0010t0002g0006 |
3 | 363 | 0.0083 | 30 | c.*45 others(41): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 493 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499780 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG02723.hp1 |
a0003a0004 | a0003c0058a0004c0002 | a0003c0058t0006a0004c0002t0001 | a0003c0058t0006g0324 a0004c0002t0001g0248 |
2 | 204 | 0.0098 | 30 | c.*45 others(41): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 490 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0193 | 1 | 183 | 0.0055 | 30 | c.101 others(49): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACACAGA others(23): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19000.hp1 |
a0002a0005 | a0002c0001a0005c0004 | a0002c0001t0001a0005c0004t0001 | a0002c0001t0001g0062 a0005c0004t0001g0340 |
2 | 184 | 0.0109 | 30 | c.101 others(49): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | C | CACAGAGA others(23): Show |
intron_variant | MODIFIER | NA18940.hp1 NA19083.hp1 |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0002a0003c0006t0002 | a0001c0003t0002g0277 a0003c0006t0002g0368 |
2 | 184 | 0.0109 | 30 | c.101 others(49): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
POFUT2_chr21_45258935_45292895 | 45291299 | A | ATTTTGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 30 | c.-34 others(41): Show |
POFUT2 | ENSG00000186866.17 | transcript | ENST00000349485.10 | protein_coding | 3405 | chr21 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24921892 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 156 | 0.0064 | 30 | c.416 others(49): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74609372 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0196 | 1 | 316 | 0.0032 | 30 | c.220 others(47): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74632877 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0196 | 1 | 23 | 0.0435 | 30 | c.100 others(49): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POLD4_chr11_67345772_67358546 | 67347588 | C | CAACAGAG others(23): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | 30 | c.*44 others(41): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3183 | chr11 | TogoVar |