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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PXDNL_chr8_51314577_51814445 | 51377105 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG02896.hp2 others(1): Show |
a0003a0008a0021 | a0003c0003a0008c0008a0021c0022 | a0003c0003t0001a0008c0008t0001a0008c0008t0003others(1): Show | a0003c0003t0001g0080 a0008c0008t0001g0064 a0008c0008t0003g0007 others(1): Show |
4 | 122 | 0.0328 | -8 | c.355 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 17/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51381622 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01256.hp1 HG01496.hp1 others(23): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0004others(16): Show | a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0002g0114 others(23): Show |
26 | 122 | 0.2131 | -8 | c.355 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 17/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51448700 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01070.hp2 others(42): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0002c0021others(17): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(25): Show | a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0002g0101 others(42): Show |
45 | 122 | 0.3689 | -8 | c.136 others(25): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 11/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51473274 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0002g0098 |
2 | 122 | 0.0164 | -8 | c.695 others(23): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 7/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51486750 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG03017.hp1 HG03516.hp1 NA18948.hp1 |
a0001a0010a0011 | a0001c0001a0010c0009a0011c0017 | a0001c0001t0002a0010c0009t0001a0011c0017t0001 | a0001c0001t0002g0093 a0010c0009t0001g0088 a0011c0017t0001g0054 |
3 | 122 | 0.0246 | -8 | c.453 others(25): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51490727 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01109.hp1 others(24): Show |
a0001a0002a0005others(7): Show | a0001c0046a0002c0002a0002c0037others(8): Show | a0001c0046t0001a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0046t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0028 others(24): Show |
27 | 122 | 0.2213 | -8 | c.453 others(25): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51532556 | AGTTTGTT others(1): Show |
A | intron_variant | MODIFIER | HG03669.hp1 HG03669.hp2 NA18956.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0011a0002c0021a0003c0003others(1): Show | a0001c0011t0002a0002c0021t0002a0003c0003t0001others(1): Show | a0001c0011t0002g0100 a0002c0021t0002g0092 a0003c0003t0001g0021 others(2): Show |
5 | 122 | 0.0410 | -8 | c.380 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577923 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 NA19030.hp2 |
a0001a0003a0008 | a0001c0001a0003c0005a0008c0008 | a0001c0001t0002a0003c0005t0001a0008c0008t0003 | a0001c0001t0002g0102 a0003c0005t0001g0041 a0008c0008t0003g0007 |
3 | 122 | 0.0246 | -8 | c.308 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577995 | GAAAGAGG others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01975.hp2 |
a0029a0030 | a0029c0039a0030c0040 | a0029c0039t0002a0030c0040t0001 | a0029c0039t0002g0120 a0030c0040t0001g0060 |
2 | 122 | 0.0164 | -8 | c.308 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51577999 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01884.hp1 HG02109.hp2 others(3): Show |
a0001a0002a0003others(3): Show | a0001c0011a0002c0002a0003c0033others(3): Show | a0001c0011t0003a0002c0002t0001a0003c0033t0001others(3): Show | a0001c0011t0003g0008 a0002c0002t0001g0067 a0003c0033t0001g0035 others(3): Show |
6 | 122 | 0.0492 | -8 | c.308 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51580016 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02615.hp1 others(4): Show |
a0004a0021 | a0004c0004a0021c0022 | a0004c0004t0001a0004c0004t0003a0021c0022t0003 | a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 others(4): Show |
7 | 122 | 0.0574 | -8 | c.308 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51607854 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01884.hp1 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0011a0002c0002others(4): Show | a0001c0001t0002a0001c0011t0003a0002c0002t0001others(4): Show | a0001c0001t0002g0098 a0001c0011t0003g0008 a0002c0002t0001g0067 others(5): Show |
8 | 122 | 0.0656 | -8 | c.237 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51608054 | AAAGCAAG others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01167.hp1 others(20): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0001c0032others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0002others(9): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 others(20): Show |
23 | 122 | 0.1885 | -8 | c.237 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51659857 | GTATTTAT others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01192.hp2 HG01884.hp2 others(26): Show |
a0001a0003a0004others(11): Show | a0001c0001a0003c0003a0003c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 others(26): Show |
29 | 122 | 0.2377 | -8 | c.165 others(25): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51696805 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01256.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0033 | a0001c0001t0001a0002c0002t0002a0003c0033t0001 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 others(5): Show |
8 | 122 | 0.0656 | -8 | c.165 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51705832 | TGCGCGCG others(1): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03130.hp2 HG03516.hp1 |
a0011a0034 | a0011c0017a0034c0019 | a0011c0017t0001a0034c0019t0001 | a0011c0017t0001g0054 a0011c0017t0001g0075 a0034c0019t0001g0090 |
3 | 122 | 0.0246 | -8 | c.165 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51744028 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02109.hp1 others(12): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0037others(10): Show | a0001c0001t0003a0002c0002t0003a0002c0037t0001others(10): Show | a0001c0001t0003g0013 a0002c0002t0003g0016 a0002c0037t0001g0087 others(12): Show |
15 | 122 | 0.1230 | -8 | c.164 others(27): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1658027 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG02074.hp2 HG02132.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0243 a0001c0001t0001g0269 a0001c0001t0005g0300 others(15): Show |
18 | 322 | 0.0559 | -8 | c.183 others(27): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 14/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1679088 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp1 NA19240.hp1 NA20129.hp1 |
a0001 | a0001c0005a0001c0006a0001c0044 | a0001c0005t0004a0001c0006t0004a0001c0044t0025 | a0001c0005t0004g0247 a0001c0006t0004g0232 a0001c0044t0025g0210 |
3 | 322 | 0.0093 | -8 | c.730 others(25): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1716440 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(37): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0070 others(37): Show |
40 | 322 | 0.1242 | -8 | c.201 others(27): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1719960 | GGGAGATG others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0021a0001c0013t0001 | a0001c0001t0001g0162 a0001c0001t0021g0160 a0001c0013t0001g0163 |
3 | 322 | 0.0093 | -8 | c.200 others(27): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1720718 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG01928.hp2 HG02602.hp2 HG02735.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0031a0001c0002t0003a0001c0006t0004others(1): Show | a0001c0001t0031g0215 a0001c0002t0003g0142 a0001c0006t0004g0232 others(1): Show |
4 | 322 | 0.0124 | -8 | c.200 others(27): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1721960 | TCCCACAT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(5): Show | a0001c0001t0001g0292 a0001c0001t0001g0313 a0001c0001t0002g0293 others(6): Show |
9 | 322 | 0.0280 | -8 | c.200 others(27): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58334951 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 others(2): Show |
5 | 300 | 0.0167 | -8 | c.102 others(25): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58339216 | GGGTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01891.hp2 others(14): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0004t0005 | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 others(14): Show |
17 | 300 | 0.0567 | -8 | c.102 others(25): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58342634 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0287 a0001c0001t0006g0289 a0001c0001t0006g0290 others(7): Show |
10 | 300 | 0.0333 | -8 | c.102 others(25): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58351395 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0287 a0001c0001t0006g0290 a0001c0001t0006g0293 others(5): Show |
8 | 300 | 0.0267 | -8 | c.103 others(27): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXN_chr12_120205447_120270730 | 120237148 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01433.hp2 others(27): Show |
a0001 | a0001c0001a0001c0030 | a0001c0001t0001a0001c0001t0002a0001c0030t0004 | a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0190 others(22): Show |
30 | 324 | 0.0926 | -8 | c.14- others(25): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
PXN_chr12_120205447_120270730 | 120248492 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01243.hp2 HG01975.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0001a0002c0002t0001a0006c0009t0004 | a0001c0001t0001g0073 a0001c0001t0001g0226 a0001c0001t0001g0238 others(4): Show |
7 | 324 | 0.0216 | -8 | c.13+ others(25): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
PXT1_chr6_36385551_36447854 | 36387717 | CGCCCGGG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(118): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0353 others(111): Show |
121 | 390 | 0.3103 | -8 | c.*40 others(19): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 2833 | chr6 | TogoVar | |||||||
PXT1_chr6_36385551_36447854 | 36433167 | AAGAATCA others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02896.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0023 a0002c0002t0001g0360 a0002c0002t0002g0006 |
4 | 390 | 0.0103 | -8 | c.-10 others(25): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141248680 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG02735.hp2 HG02976.hp1 HG03130.hp2 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0012a0004c0005 | a0001c0001t0002a0001c0001t0003a0003c0012t0003others(1): Show | a0001c0001t0002g0012 a0001c0001t0002g0081 a0001c0001t0003g0245 others(3): Show |
6 | 384 | 0.0156 | -8 | c.-53 others(27): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141267888 | TCTCTCCC others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01928.hp2 HG02135.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0201 a0001c0001t0003g0238 a0001c0001t0004g0109 others(1): Show |
4 | 384 | 0.0104 | -8 | c.79+ others(23): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141268202 | AGAGAGTG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0013 | a0001c0001t0001g0311 a0001c0003t0013g0268 a0001c0003t0013g0269 |
3 | 384 | 0.0078 | -8 | c.79+ others(23): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141268206 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 NA18965.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0262 |
3 | 384 | 0.0078 | -8 | c.79+ others(23): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141299620 | AGCATCAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01192.hp2 others(49): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0003a0001c0003t0003a0001c0004t0003others(2): Show | a0001c0001t0003g0001 a0001c0001t0003g0024 a0001c0001t0003g0025 others(47): Show |
52 | 384 | 0.1354 | -8 | c.*64 others(19): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 4697 | chr3 | TogoVar | |||||||
PYCARD_chr16_31196486_31207760 | 31205946 | TTTTCTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01255.hp1 HG01346.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 354 | 0.0254 | -8 | c.-32 others(19): Show |
PYCARD | ENSG00000103490.14 | transcript | ENST00000247470.10 | protein_coding | 3187 | chr16 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463020 | CTCTTTCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG02155.hp2 NA19070.hp1 |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 3 | 434 | 0.0069 | -8 | c.*15 others(19): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1565 | chr3 | TogoVar | |||||||
PYGB_chr20_25243085_25303012 | 25270193 | TTTGTTTT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01515.hp2 HG01884.hp2 others(19): Show |
a0001 | a0001c0004a0001c0009a0001c0021 | a0001c0004t0002a0001c0004t0007a0001c0004t0011others(2): Show | a0001c0004t0002g0021 a0001c0004t0002g0040 a0001c0004t0002g0041 others(15): Show |
22 | 372 | 0.0591 | -8 | c.424 others(23): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PYGL_chr14_50900217_50949483 | 50914007 | CACTGGTA others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01981.hp2 HG01993.hp1 others(23): Show |
a0001 | a0001c0005a0001c0009a0001c0012 | a0001c0005t0002a0001c0009t0003a0001c0012t0002 | a0001c0005t0002g0004 a0001c0005t0002g0015 a0001c0005t0002g0040 others(16): Show |
26 | 390 | 0.0667 | -8 | c.151 others(25): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 12/19 | chr14 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55568320 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01358.hp2 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0031a0001c0007t0031a0002c0002t0012 | a0001c0001t0031g0116 a0001c0007t0031g0150 a0002c0002t0012g0357 others(1): Show |
4 | 412 | 0.0097 | -8 | c.50- others(25): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55574648 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01256.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0037 | a0002c0002t0012g0275 a0002c0002t0012g0357 a0002c0002t0012g0361 others(5): Show |
8 | 412 | 0.0194 | -8 | c.49+ others(25): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PYHIN1_chr1_158926552_158982059 | 158946547 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01175.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0078 a0001c0001t0001g0109 others(16): Show |
20 | 398 | 0.0503 | -8 | c.135 others(27): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PYROXD2_chr10_98378568_98420182 | 98386323 | GAGGGAGG others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02165.hp1 others(20): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0001a0003c0005t0001 | a0003c0003t0001g0066 a0003c0005t0001g0038 a0003c0005t0001g0039 others(18): Show |
23 | 418 | 0.0550 | -8 | c.155 others(25): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 14/15 | chr10 | TogoVar | |||||||
QDPR_chr4_17481395_17517090 | 17496022 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(101): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0052 others(47): Show |
104 | 406 | 0.2562 | -8 | c.437 others(25): Show |
QDPR | ENSG00000151552.13 | transcript | ENST00000281243.10 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
QKI_chr6_163409718_163583592 | 163489424 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02083.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0176 a0001c0001t0003g0027 a0001c0001t0010g0133 others(4): Show |
7 | 302 | 0.0232 | -8 | c.402 others(27): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
QKI_chr6_163409718_163583592 | 163553062 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0109 a0001c0001t0001g0163 a0001c0001t0001g0170 others(34): Show |
37 | 302 | 0.1225 | -8 | c.547 others(25): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
QNG1_chr9_83933311_83961742 | 83943331 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 others(60): Show |
109 | 394 | 0.2767 | -8 | c.793 others(25): Show |
QNG1 | ENSG00000165118.15 | transcript | ENST00000376344.8 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37340777 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01884.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0002 | a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0344 others(31): Show |
37 | 442 | 0.0837 | -8 | c.-39 others(19): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 3852 | chr2 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37345301 | TGCTGGGG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(125): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(100): Show |
128 | 442 | 0.2896 | -8 | c.120 others(23): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |