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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PEX5L_chr3_179789958_180041937 | 179797588 | TTAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG02965.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0016 | a0001c0001t0016g0197a0001c0001t0016g0200a0002c0002t0016g0187 | 3 | 220 | 0.0136 | -7 | c.*42 others(18): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 15/15 | 4233 | chr3 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7196969 | GTAATAAT | G | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0007 | a0001c0001t0007g0028a0001c0001t0007g0163a0001c0001t0007g0165others(1): Show | 5 | 428 | 0.0117 | -7 | c.449 others(24): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX5_chr12_7184686_7216459 | 7197460 | TAATTATA | T | intron_variant | MODIFIER | HG02738.hp2 NA18952.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033a0001c0001t0003g0188a0001c0001t0003g0196 | 4 | 428 | 0.0094 | -7 | c.449 others(24): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7203181 | ATGCACTG | A | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp2 HG01243.hp2 others(38): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0003a0001c0001t0004a0003c0003t0004others(1): Show | a0001c0001t0003g0005a0001c0001t0003g0010a0001c0001t0003g0016others(26): Show | 41 | 428 | 0.0958 | -7 | c.847 others(22): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7212464 | GAAAAAAA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(145): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(122): Show | 148 | 428 | 0.3458 | -7 | c.*22 others(18): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 1006 | chr12 | TogoVar | ||||||
PEX6_chr6_42958865_42984181 | 42961550 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(148): Show |
a0001a0002a0003others(8): Show | a0001c0005a0001c0008a0002c0002others(11): Show | a0001c0005t0001a0001c0008t0001a0002c0002t0001others(12): Show | a0001c0005t0001g0039a0001c0005t0001g0073a0001c0005t0001g0092others(94): Show | 151 | 378 | 0.3995 | -7 | c.*27 others(18): Show |
PEX6 | ENSG00000124587.14 | transcript | ENST00000304611.13 | protein_coding | 2314 | chr6 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6210349 | TTTTTTTG | T | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG01169.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0183a0001c0001t0001g0340a0001c0001t0002g0395others(12): Show | 16 | 432 | 0.0370 | -7 | c.77- others(22): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3081977 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00741.hp1 others(10): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(9): Show | a0001c0001t0002g0225a0001c0001t0002g0381a0001c0001t0003g0380others(10): Show | 13 | 402 | 0.0323 | -7 | c.113 others(22): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PFKP_chr10_3062548_3141802 | 3121824 | TTTTTTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(148): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(47): Show | a0001c0001t0002g0006a0001c0001t0002g0036a0001c0001t0002g0037others(148): Show | 151 | 402 | 0.3756 | -7 | c.168 others(26): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PGA4_chr11_61217347_61236694 | 61221891 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(40): Show | 105 | 304 | 0.3454 | -7 | c.-50 others(16): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 455 | chr11 | TogoVar | ||||||
PGA5_chr11_61236175_61256444 | 61240717 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01884.hp2 HG02165.hp2 others(13): Show |
a0001a0002a0007 | a0001c0001a0001c0006a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0002others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0105a0001c0001t0003g0001others(9): Show | 16 | 406 | 0.0394 | -7 | c.-50 others(16): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 457 | chr11 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97425908 | ACCCGCCG | A | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(3): Show | 12 | 438 | 0.0274 | -7 | c.-39 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 282 | chr10 | TogoVar | ||||||
PGAM1_chr10_97421191_97438444 | 97425926 | GCCGCCCT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01074.hp1 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(13): Show | 25 | 438 | 0.0571 | -7 | c.-38 others(16): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196912580 | TAAAAAAA | T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01069.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0005 | a0001c0001t0002a0001c0001t0011a0001c0001t0018others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0131a0001c0001t0002g0132others(39): Show | 43 | 188 | 0.2287 | -7 | c.649 others(22): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 4/26 | chr2 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 383843 | GGGTTTAC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(82): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0030a0002c0002others(8): Show | a0001c0001t0008a0001c0030t0003a0002c0002t0001others(18): Show | a0001c0001t0008g0033a0001c0030t0003g0113a0002c0002t0001g0003others(45): Show | 85 | 376 | 0.2261 | -7 | c.-20 others(18): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1866 | chr16 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230312430 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG02040.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0051a0001c0001t0052others(5): Show | a0001c0001t0029g0090a0001c0001t0029g0173a0001c0001t0051g0089others(6): Show | 9 | 288 | 0.0313 | -7 | c.*10 others(20): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 2059 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230382283 | ATTTTAAT | A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01192.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0010a0001c0001t0030a0001c0001t0049others(14): Show | a0001c0001t0010g0019a0001c0001t0030g0160a0001c0001t0049g0183others(19): Show | 22 | 288 | 0.0764 | -7 | c.332 others(26): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PGK1_chrX_78099248_78134295 | 78106898 | CAACTTGT | C | intron_variant | MODIFIER | HG01081.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0130a0001c0001t0013g0152 | 2 | 308 | 0.0065 | -7 | c.65+ others(22): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PGK1_chrX_78099248_78134295 | 78109603 | TACCACAA | T | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0133 | 1 | 308 | 0.0033 | -7 | c.66- others(20): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PGK1_chrX_78099248_78134295 | 78122408 | TTTGTGTG | T | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0126 | 1 | 308 | 0.0033 | -7 | c.642 others(22): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PGK2_chr6_49780660_49792285 | 49790660 | GACTAAAT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(218): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(6): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0003t0001g0000others(6): Show | 221 | 406 | 0.5443 | -7 | c.-34 others(18): Show |
PGK2 | ENSG00000170950.6 | transcript | ENST00000304801.6 | protein_coding | 3376 | chr6 | TogoVar | ||||||
PGLS_chr19_17506649_17526288 | 17510586 | CTACTTTA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02040.hp1 NA18943.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(3): Show | 10 | 442 | 0.0226 | -7 | c.-10 others(18): Show |
PGLS | ENSG00000130313.7 | transcript | ENST00000252603.7 | protein_coding | 1062 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15470238 | TTCTTTCC | T | intron_variant | MODIFIER | HG02148.hp2 HG02735.hp1 NA18951.hp1 others(8): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0005a0002c0002t0001g0050a0002c0002t0001g0054others(6): Show | 11 | 382 | 0.0288 | -7 | c.134 others(24): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01167.hp2 others(16): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0166a0001c0001t0001g0228a0001c0001t0001g0230others(16): Show | 19 | 382 | 0.0497 | -7 | c.113 others(26): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63615547 | CTTCTTTT | C | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02257.hp1 others(4): Show |
a0001a0005a0006others(2): Show | a0001c0006a0005c0005a0006c0013others(2): Show | a0001c0006t0003a0005c0005t0003a0006c0013t0001others(2): Show | a0001c0006t0003g0141a0001c0006t0003g0145a0001c0006t0003g0148others(4): Show | 7 | 366 | 0.0191 | -7 | c.247 others(26): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM2L1_chr11_74325316_74403433 | 74402439 | TATATATA | T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02896.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0042 | a0001c0001t0002g0273a0001c0001t0002g0306a0001c0001t0002g0327others(1): Show | 4 | 380 | 0.0105 | -7 | c.-42 others(18): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 4007 | chr11 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37853359 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(173): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(148): Show | 176 | 446 | 0.3946 | -7 | c.160 others(26): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68422457 | GTTTTGTT | G | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0109a0001c0001t0001g0116a0001c0004t0002g0238others(1): Show | 4 | 246 | 0.0163 | -7 | c.104 others(28): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGPEP1L_chr15_98963229_99012792 | 98971194 | TGGGGGGG | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(118): Show |
a0000a0001a0002others(2): Show | a0000c0002a0001c0001a0001c0008others(4): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(26): Show | a0000c0002t0001g0092a0000c0002t0001g0179a0000c0002t0001g0180others(116): Show | 121 | 398 | 0.3040 | -7 | c.-14 others(22): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98971204 | GGGGGGGT | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00735.hp1 others(57): Show |
a0000a0001 | a0000c0002a0000c0010a0001c0001 | a0000c0002t0001a0000c0002t0002a0000c0002t0017others(6): Show | a0000c0002t0001g0020a0000c0002t0001g0043a0000c0002t0001g0049others(57): Show | 60 | 398 | 0.1508 | -7 | c.-14 others(22): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98978726 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG03098.hp1 others(3): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0002a0001c0001t0001a0001c0001t0005 | a0000c0002t0002g0284a0001c0001t0001g0046a0001c0001t0001g0052others(3): Show | 6 | 398 | 0.0151 | -7 | c.-14 others(26): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98979633 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(80): Show |
a0000a0001a0005 | a0000c0002a0001c0001a0001c0009others(1): Show | a0000c0002t0002a0000c0002t0035a0001c0001t0001others(11): Show | a0000c0002t0002g0262a0000c0002t0002g0285a0000c0002t0002g0311others(78): Show | 83 | 398 | 0.2085 | -7 | c.-14 others(26): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98982700 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 HG02451.hp2 others(5): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0000c0002t0001g0039a0000c0002t0001g0071a0000c0002t0001g0152others(5): Show | 8 | 398 | 0.0201 | -7 | c.-14 others(28): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02647.hp1 others(4): Show |
a0001a0003a0011 | a0001c0002a0003c0005a0011c0009 | a0001c0002t0046a0001c0002t0048a0001c0002t0049others(4): Show | a0001c0002t0046g0101a0001c0002t0048g0079a0001c0002t0049g0080others(4): Show | 7 | 254 | 0.0276 | -7 | c.248 others(26): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101053360 | GCTACTCT | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01074.hp1 others(16): Show |
a0002a0007a0008others(1): Show | a0002c0004a0002c0015a0002c0016others(3): Show | a0002c0004t0005a0002c0004t0015a0002c0004t0020others(9): Show | a0002c0004t0005g0025a0002c0004t0005g0026a0002c0004t0005g0027others(16): Show | 19 | 254 | 0.0748 | -7 | c.221 others(26): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101055414 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG02717.hp2 HG02895.hp2 others(2): Show |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0022a0001c0002t0026a0006c0010t0004 | a0001c0002t0022g0043a0001c0002t0022g0055a0001c0002t0026g0042others(2): Show | 5 | 254 | 0.0197 | -7 | c.221 others(26): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78387428 | TAGCTGGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0217a0001c0001t0001g0333a0001c0001t0001g0334others(45): Show | 48 | 398 | 0.1206 | -7 | c.144 others(24): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PGS1_chr17_78373649_78429659 | 78410462 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(131): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0067others(128): Show | 134 | 398 | 0.3367 | -7 | c.140 others(26): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PGS1_chr17_78373649_78429659 | 78421898 | AGCGGGCG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0219a0001c0001t0001g0242a0001c0001t0001g0262others(44): Show | 49 | 398 | 0.1231 | -7 | c.*11 others(24): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PGS1_chr17_78373649_78429659 | 78425756 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01123.hp2 HG02055.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0337a0001c0001t0001g0338a0001c0001t0001g0347others(16): Show | 19 | 398 | 0.0477 | -7 | c.*17 others(18): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 1098 | chr17 | TogoVar | ||||||
PGS1_chr17_78373649_78429659 | 78428923 | TTAAAAAA | T | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02559.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0002g0345a0001c0002t0002g0073a0001c0003t0002g0079others(11): Show | 14 | 398 | 0.0352 | -7 | c.*48 others(18): Show |
PGS1 | ENSG00000087157.19 | transcript | ENST00000262764.11 | protein_coding | 4265 | chr17 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 12860896 | GATGTATT | G | intron_variant | MODIFIER | HG02486.hp1 HG02717.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0065a0001c0001t0002g0009others(3): Show | 6 | 108 | 0.0556 | -7 | c.250 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12889728 | CTTCTTCT | C | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01361.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0021a0001c0001t0001g0025a0001c0001t0001g0032others(6): Show | 9 | 108 | 0.0833 | -7 | c.250 others(28): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 12956418 | GAGATAAC | G | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0038others(3): Show | 6 | 108 | 0.0556 | -7 | c.251 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13195757 | CAAAAAAA | C | intron_variant | MODIFIER | HG02027.hp2 HG02258.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0002g0072a0001c0001t0003g0099a0001c0002t0001g0013others(6): Show | 9 | 108 | 0.0833 | -7 | c.665 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13231079 | GGAAGGAA | G | intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0046a0001c0001t0001g0051a0001c0001t0001g0058others(12): Show | 15 | 108 | 0.1389 | -7 | c.139 others(24): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13263238 | GTTTTTTT | G | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02109.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0016others(20): Show | 23 | 108 | 0.2130 | -7 | c.139 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13267838 | GAAAAAAA | G | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0046a0001c0001t0001g0101others(1): Show | 4 | 108 | 0.0370 | -7 | c.139 others(26): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13284544 | ATATATAT | A | intron_variant | MODIFIER | HG02027.hp2 HG03831.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0044a0001c0002t0003g0095 | 2 | 108 | 0.0185 | -7 | c.165 others(24): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 13/14 | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143736554 | ATTTTTTT | A | intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01515.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0006g0089a0001c0001t0008g0048a0001c0001t0010g0074others(14): Show | 17 | 310 | 0.0548 | -7 | c.215 others(26): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |