regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 51608054 | AAAGCAAG others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0047a0002c0002t0001g0039 | 2 | 122 | 0.0164 | -12 | c.237 others(31): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51744028 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG03486.hp2 others(1): Show |
a0002a0005a0009others(1): Show | a0002c0002a0005c0015a0009c0012others(1): Show | a0002c0002t0004a0005c0015t0001a0009c0012t0001others(1): Show | a0002c0002t0004g0015a0005c0015t0001g0030a0009c0012t0001g0038others(1): Show | 4 | 122 | 0.0328 | -12 | c.164 others(31): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1644071 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0033 | 1 | 322 | 0.0031 | -12 | c.374 others(29): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 18/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1645728 | GTCGGGAG others(5): Show |
G | intron_variant | MODIFIER | NA18991.hp2 | a0012 | a0012c0038 | a0012c0038t0001 | a0012c0038t0001g0238 | 1 | 322 | 0.0031 | -12 | c.360 others(29): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1658027 | GCTCTCTC others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00642.hp1 others(34): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(11): Show | a0001c0001t0001g0078a0001c0001t0001g0125a0001c0001t0001g0194others(34): Show | 37 | 322 | 0.1149 | -12 | c.183 others(31): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 14/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1659701 | AACTTAAT others(5): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0023 | a0001c0023t0004 | a0001c0023t0004g0231 | 1 | 322 | 0.0031 | -12 | c.183 others(31): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 14/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1690648 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0320 | 1 | 322 | 0.0031 | -12 | c.344 others(29): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 3/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1716440 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG01433.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0001 | a0001c0001t0004g0302a0001c0003t0001g0086 | 2 | 322 | 0.0062 | -12 | c.201 others(31): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1719834 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0320 | 1 | 322 | 0.0031 | -12 | c.200 others(31): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1720315 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG01516.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0072a0001c0001t0009g0073 | 2 | 322 | 0.0062 | -12 | c.200 others(31): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1720718 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | NA19087.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0034a0001c0013t0001g0163 | 2 | 322 | 0.0062 | -12 | c.200 others(31): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58334947 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 300 | 0.0033 | -12 | c.102 others(29): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXK_chr3_58327892_58431127 | 58335018 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 300 | 0.0033 | -12 | c.102 others(29): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXK_chr3_58327892_58431127 | 58336071 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 300 | 0.0033 | -12 | c.102 others(29): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXMP4_chr20_33697758_33725310 | 33698476 | TGCTCTCG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0205 | 1 | 388 | 0.0026 | -12 | c.*92 others(23): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 4281 | chr20 | TogoVar | ||||||
PXMP4_chr20_33697758_33725310 | 33702755 | ATATTTAT others(5): Show |
A | splice_region_variant | LOW | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0195 | 1 | 388 | 0.0026 | -12 | c.*49 others(23): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 4/4 | chr20 | TogoVar | ||||||
PXT1_chr6_36385551_36447854 | 36426355 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(122): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0016others(114): Show | 125 | 390 | 0.3205 | -12 | c.-9- others(25): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141248606 | CACACGTA others(5): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 384 | 0.0026 | -12 | c.-53 others(31): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141257904 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0309 | 1 | 384 | 0.0026 | -12 | c.-53 others(29): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268168 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01496.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0004t0001a0001c0004t0003others(1): Show | a0001c0001t0001g0108a0001c0004t0001g0224a0001c0004t0003g0221others(2): Show | 5 | 384 | 0.0130 | -12 | c.79+ others(27): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268196 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(47): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0071a0001c0001t0001g0072others(43): Show | 50 | 384 | 0.1302 | -12 | c.79+ others(27): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268198 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02148.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0066a0001c0001t0001g0316a0001c0001t0002g0293others(5): Show | 8 | 384 | 0.0208 | -12 | c.79+ others(27): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268200 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0319a0001c0001t0003g0242a0001c0001t0003g0324 | 3 | 384 | 0.0078 | -12 | c.79+ others(27): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268202 | AGAGAGTG others(5): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0305 | 1 | 384 | 0.0026 | -12 | c.79+ others(27): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268206 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 | 1 | 384 | 0.0026 | -12 | c.79+ others(27): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PYCARD_chr16_31196486_31207760 | 31205946 | TTTTCTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG02056.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 354 | 0.0226 | -12 | c.-32 others(23): Show |
PYCARD | ENSG00000103490.14 | transcript | ENST00000247470.10 | protein_coding | 3187 | chr16 | TogoVar | ||||||
PYCR1_chr17_81927391_81942300 | 81930533 | GCACACCT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | -12 | c.*26 others(23): Show |
PYCR1 | ENSG00000183010.17 | transcript | ENST00000329875.13 | protein_coding | 1857 | chr17 | TogoVar | ||||||
PYDC2_chr3_191456163_191466456 | 191463020 | CTCTTTCT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp2 HG03669.hp1 NA18969.hp1 |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 3 | 434 | 0.0069 | -12 | c.*15 others(23): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1565 | chr3 | TogoVar | ||||||
PYGL_chr14_50900217_50949483 | 50901763 | AAGACTAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02738.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261a0001c0001t0001g0270 | 2 | 390 | 0.0051 | -12 | c.*36 others(23): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 3453 | chr14 | TogoVar | ||||||
PYGL_chr14_50900217_50949483 | 50926725 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG02056.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0109a0001c0001t0001g0213a0001c0001t0002g0133others(10): Show | 16 | 390 | 0.0410 | -12 | c.529 others(29): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 4/19 | chr14 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55534095 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(117): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0056others(116): Show | 120 | 412 | 0.2913 | -12 | c.*11 others(25): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 4788 | chr15 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55548707 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(67): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0056others(65): Show | 70 | 412 | 0.1699 | -12 | c.135 others(27): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55554468 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18956.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0062 | a0001c0001t0003g0309a0001c0001t0062g0229 | 2 | 412 | 0.0049 | -12 | c.50- others(27): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55572463 | AGAGGAAA others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0107 | 1 | 412 | 0.0024 | -12 | c.49+ others(29): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55591511 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0028others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0102a0001c0001t0020g0074others(3): Show | 7 | 412 | 0.0170 | -12 | c.-36 others(23): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 3167 | chr15 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55593010 | CCATTTGA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0028others(1): Show | a0001c0001t0002g0102a0001c0001t0020g0074a0001c0001t0020g0075others(2): Show | 5 | 412 | 0.0121 | -12 | c.-51 others(23): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 4666 | chr15 | TogoVar | ||||||
PYHIN1_chr1_158926552_158982059 | 158946547 | TTAGATAG others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG04204.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0003 | a0001c0001t0001g0285a0003c0002t0003g0318 | 2 | 398 | 0.0050 | -12 | c.135 others(31): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PYHIN1_chr1_158926552_158982059 | 158976855 | TCTGGTTG others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01261.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0009 | a0001c0001t0004g0144a0001c0001t0004g0146a0001c0001t0004g0162others(11): Show | 14 | 398 | 0.0352 | -12 | c.*16 others(21): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 9/9 | 3092 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
PYHIN1_chr1_158926552_158982059 | 158976868 | CTATATAT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18962.hp2 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0056a0001c0001t0017g0210 | 2 | 398 | 0.0050 | -12 | c.*21 others(21): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 9/9 | 3139 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
PYM1_chr12_55896413_55932894 | 55907648 | AAAATTGG others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02559.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0001a0001c0002t0002g0017a0001c0002t0002g0038others(2): Show | 16 | 344 | 0.0465 | -12 | c.38- others(27): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
PYM1_chr12_55896413_55932894 | 55910252 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0184 | 2 | 344 | 0.0058 | -12 | c.38- others(27): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
PYROXD1_chr12_21432655_21476250 | 21433787 | ATGCCCAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0027 | 1 | 416 | 0.0024 | -12 | c.-39 others(23): Show |
PYROXD1 | ENSG00000121350.16 | transcript | ENST00000240651.14 | protein_coding | 3867 | chr12 | TogoVar | ||||||
PYROXD1_chr12_21432655_21476250 | 21449858 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(233): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0012others(127): Show | 236 | 416 | 0.5673 | -12 | c.414 others(27): Show |
PYROXD1 | ENSG00000121350.16 | transcript | ENST00000240651.14 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PYROXD2_chr10_98378568_98420182 | 98386323 | GAGGGAGG others(5): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0054 | 1 | 418 | 0.0024 | -12 | c.155 others(29): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 14/15 | chr10 | TogoVar | ||||||
PYROXD2_chr10_98378568_98420182 | 98387624 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02155.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0072 | 1 | 418 | 0.0024 | -12 | c.144 others(29): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 13/15 | chr10 | TogoVar | ||||||
PYURF_chr4_88515998_88528776 | 88516483 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19001.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | 446 | 0.0045 | -12 | c.*53 others(23): Show |
PYURF | ENSG00000145337.5 | transcript | ENST00000273968.5 | protein_coding | 4514 | chr4 | TogoVar | ||||||
QARS1_chr3_49090932_49109757 | 49096798 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01258.hp1 HG01258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0076 | 5 | 284 | 0.0176 | -12 | c.227 others(29): Show |
QARS1 | ENSG00000172053.18 | transcript | ENST00000306125.12 | protein_coding | 23/23 | chr3 | TogoVar | ||||||
QDPR_chr4_17481395_17517090 | 17496442 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0001a0001c0001t0003g0019a0001c0001t0003g0021others(21): Show | 70 | 406 | 0.1724 | -12 | c.437 others(29): Show |
QDPR | ENSG00000151552.13 | transcript | ENST00000281243.10 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
QKI_chr6_163409718_163583592 | 163415053 | CGCGGGAG others(5): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(18): Show | a0001c0001t0003g0006a0001c0001t0003g0011a0001c0001t0003g0015others(74): Show | 77 | 302 | 0.2550 | -12 | c.-13 others(21): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 1/8 | 120 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
QKI_chr6_163409718_163583592 | 163431493 | CATCTACA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0067a0001c0001t0001g0071a0001c0001t0001g0105others(85): Show | 88 | 302 | 0.2914 | -12 | c.142 others(31): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 1/7 | chr6 | TogoVar |