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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGAP1_chr2_196828004_196931707 | 196828228 | TCTCACAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 188 | 0.0053 | -10 | c.*12 others(23): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 4775 | chr2 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196828230 | TCACACAC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006a0001c0001t0005g0120a0001c0001t0005g0128others(2): Show | 6 | 188 | 0.0319 | -10 | c.*12 others(23): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 4773 | chr2 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196911606 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03225.hp2 HG03453.hp1 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0176a0001c0003t0007g0177a0001c0003t0007g0178 | 3 | 188 | 0.0160 | -10 | c.649 others(27): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 4/26 | chr2 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196914619 | CAAACAAA others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(125): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0021others(121): Show | 128 | 188 | 0.6809 | -10 | c.478 others(27): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 3/26 | chr2 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196922577 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02135.hp1 HG03486.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019a0001c0001t0020 | a0001c0001t0008g0012a0001c0001t0019g0015a0001c0001t0020g0014 | 3 | 188 | 0.0160 | -10 | c.148 others(27): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 1/26 | chr2 | TogoVar | ||||||
PGAP2_chr11_3803560_3831371 | 3823024 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02080.hp1 HG02083.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0033a0001c0001t0003g0074a0001c0001t0003g0101others(2): Show | 6 | 418 | 0.0144 | -10 | c.349 others(25): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PGAP3_chr17_39666122_39693057 | 39682225 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 376 | 0.0027 | -10 | c.432 others(27): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39683075 | CAAATAAA others(3): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 376 | 0.0027 | -10 | c.432 others(27): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39684124 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18988.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0143 | 2 | 376 | 0.0053 | -10 | c.432 others(25): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
PGAP4_chr9_101468170_101492173 | 101491812 | GATATATA others(3): Show |
G | upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 460 | 0.0022 | -10 | c.-49 others(21): Show |
PGAP4 | ENSG00000165152.9 | transcript | ENST00000374848.8 | protein_coding | 4640 | chr9 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 381807 | GCCAGCCC others(3): Show |
G | frameshift_variant | HIGH | HG02132.hp1 | a0005 | a0005c0012 | a0005c0012t0023 | a0005c0012t0023g0176 | 1 | 376 | 0.0027 | -10 | c.5_1 others(14): Show |
p.Gly others(3): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/13 | 171/3672 | 5/2316 | 2/771 | chr16 | TogoVar | ||
PGBD1_chr6_28276572_28307549 | 28297816 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01074.hp2 others(33): Show |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0001a0004c0004t0002 | a0002c0003t0001g0024a0002c0003t0001g0052a0002c0003t0001g0053others(7): Show | 36 | 408 | 0.0882 | -10 | c.773 others(23): Show |
PGBD1 | ENSG00000137338.6 | transcript | ENST00000682144.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230329453 | ATATAAGA others(3): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0131 | a0001c0001t0131g0269 | 1 | 288 | 0.0035 | -10 | c.127 others(29): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230335148 | TACACATA others(3): Show |
T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0026 | 1 | 288 | 0.0035 | -10 | c.107 others(29): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230335370 | GACTTACA others(3): Show |
G | intron_variant | MODIFIER | HG03139.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0089 | a0001c0001t0044g0004a0001c0001t0089g0134 | 2 | 288 | 0.0069 | -10 | c.107 others(29): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230335520 | TACACATA others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0009a0001c0001t0085others(2): Show | a0001c0001t0008g0025a0001c0001t0008g0041a0001c0001t0008g0050others(7): Show | 10 | 288 | 0.0347 | -10 | c.107 others(29): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230335648 | CGCACAAA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01261.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0001t0019a0001c0001t0030others(6): Show | a0001c0001t0006g0023a0001c0001t0006g0053a0001c0001t0006g0099others(14): Show | 17 | 288 | 0.0590 | -10 | c.107 others(29): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230335920 | GACACAGA others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0042a0001c0001t0090 | a0001c0001t0028g0018a0001c0001t0028g0051a0001c0001t0042g0003others(1): Show | 4 | 288 | 0.0139 | -10 | c.107 others(29): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230343162 | GTTCTTGG others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0009a0001c0001t0085others(2): Show | a0001c0001t0008g0025a0001c0001t0008g0041a0001c0001t0008g0050others(7): Show | 10 | 288 | 0.0347 | -10 | c.895 others(27): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
PGC_chr6_41731711_41752397 | 41738156 | ACATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01358.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043a0001c0001t0001g0087a0001c0001t0001g0132others(5): Show | 10 | 464 | 0.0216 | -10 | c.916 others(25): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | ||||||
PGC_chr6_41731711_41752397 | 41748953 | CCCCAGAG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 464 | 0.0022 | -10 | c.-16 others(21): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 1557 | chr6 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74940553 | GACACACA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(8): Show | 24 | 406 | 0.0591 | -10 | c.*21 others(21): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 1280 | chr14 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74940561 | GACACACA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01346.hp2 HG01496.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0068a0001c0001t0003g0006a0001c0001t0003g0035others(3): Show | 12 | 406 | 0.0296 | -10 | c.*21 others(21): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 1272 | chr14 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74950711 | GAAGGTTG others(3): Show |
G | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 406 | 0.0025 | -10 | c.119 others(27): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74951164 | GCTGCTCC others(3): Show |
G | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 406 | 0.0025 | -10 | c.119 others(27): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
PGGHG_chr11_284126_301107 | 297042 | AGCACAGG others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0063 | 1 | 450 | 0.0022 | -10 | c.*22 others(21): Show |
PGGHG | ENSG00000142102.16 | transcript | ENST00000409548.7 | protein_coding | 936 | chr11 | TogoVar | ||||||
PGGT1B_chr5_115199012_115267877 | 115201372 | CGTGTGTG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0217 | 1 | 372 | 0.0027 | -10 | c.*11 others(23): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 2639 | chr5 | TogoVar | ||||||
PGGT1B_chr5_115199012_115267877 | 115207180 | CATATATA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0154 | 1 | 372 | 0.0027 | -10 | c.*52 others(21): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 9/9 | 5212 | chr5 | TogoVar | |||||
PGGT1B_chr5_115199012_115267877 | 115238291 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0046a0001c0001t0117others(3): Show | a0001c0001t0025g0193a0001c0001t0025g0194a0001c0001t0025g0195others(6): Show | 9 | 372 | 0.0242 | -10 | c.328 others(25): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
PGK1_chrX_78099248_78134295 | 78122409 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG03579.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0036a0001c0001t0008g0056a0001c0001t0011g0036 | 3 | 308 | 0.0097 | -10 | c.642 others(25): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PGK1_chrX_78099248_78134295 | 78132610 | CTGTGTGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03017.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0012 | 2 | 308 | 0.0065 | -10 | c.*67 others(21): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 3316 | chrX | TogoVar | ||||||
PGLS_chr19_17506649_17526288 | 17518122 | AGCATTCA others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02922.hp2 HG02970.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0056a0001c0003t0002g0030 | 3 | 442 | 0.0068 | -10 | c.639 others(25): Show |
PGLS | ENSG00000130313.7 | transcript | ENST00000252603.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PGLS_chr19_17506649_17526288 | 17525547 | GTCTTTTC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 442 | 0.0023 | -10 | c.*44 others(21): Show |
PGLS | ENSG00000130313.7 | transcript | ENST00000252603.7 | protein_coding | 4260 | chr19 | TogoVar | ||||||
PGLYRP1_chr19_46014153_46028053 | 46021606 | ACCTGCTT others(3): Show |
A | intron_variant | MODIFIER | HG03017.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0044 | 2 | 456 | 0.0044 | -10 | c.287 others(27): Show |
PGLYRP1 | ENSG00000008438.5 | transcript | ENST00000008938.5 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15471103 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0020 | a0020c0020 | a0020c0020t0001 | a0020c0020t0001g0151 | 1 | 382 | 0.0026 | -10 | c.134 others(27): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG00738.hp1 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0202a0002c0002t0001g0001a0002c0002t0001g0004others(32): Show | 47 | 382 | 0.1230 | -10 | c.113 others(29): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482561 | TTTCTTCC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01257.hp2 others(13): Show |
a0001a0004a0011others(1): Show | a0001c0001a0004c0004a0011c0012others(1): Show | a0001c0001t0001a0004c0004t0001a0011c0012t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0076a0001c0001t0001g0208others(13): Show | 16 | 382 | 0.0419 | -10 | c.-32 others(21): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3061 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482607 | CCTTCCTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 382 | 0.0026 | -10 | c.-32 others(21): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3107 | chr19 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63604917 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02886.hp1 HG02896.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0002c0002t0003a0004c0004t0003 | a0001c0001t0003g0140a0002c0002t0003g0152a0004c0004t0003g0158 | 3 | 366 | 0.0082 | -10 | c.246 others(29): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63615550 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 HG03098.hp2 others(4): Show |
a0001a0007a0010 | a0001c0001a0001c0006a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0003others(4): Show | a0001c0001t0001g0351a0001c0001t0003g0082a0001c0006t0003g0346others(4): Show | 7 | 366 | 0.0191 | -10 | c.247 others(29): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63633866 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01993.hp2 HG02040.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0229a0001c0001t0001g0270others(6): Show | 9 | 366 | 0.0246 | -10 | c.683 others(25): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63633912 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00733.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0203 | 1 | 366 | 0.0027 | -10 | c.683 others(25): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63633914 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03195.hp2 HG03225.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0003a0005c0005t0001 | a0001c0001t0001g0085a0001c0001t0001g0155a0001c0001t0001g0156others(3): Show | 6 | 366 | 0.0164 | -10 | c.683 others(25): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63647259 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02293.hp2 NA19080.hp2 NA19085.hp1 others(1): Show |
a0001a0013 | a0001c0001a0013c0019 | a0001c0001t0001a0013c0019t0001 | a0001c0001t0001g0007a0001c0001t0001g0061a0001c0001t0001g0185others(1): Show | 4 | 366 | 0.0109 | -10 | c.114 others(29): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63656598 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0171 | 1 | 366 | 0.0027 | -10 | c.159 others(29): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM2L1_chr11_74325316_74403433 | 74343769 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0090 | 1 | 380 | 0.0026 | -10 | c.121 others(27): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 9/13 | chr11 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74350889 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG02148.hp2 HG03669.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0145a0002c0002t0004g0168 | 2 | 380 | 0.0053 | -10 | c.749 others(25): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 6/13 | chr11 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74351303 | ACACTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0010a0001c0004t0008g0011a0001c0004t0008g0012others(5): Show | 11 | 380 | 0.0290 | -10 | c.749 others(23): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 6/13 | chr11 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74355570 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(82): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0042a0001c0001t0043others(8): Show | a0001c0001t0002g0110a0001c0001t0002g0127a0001c0001t0002g0139others(76): Show | 85 | 380 | 0.2237 | -10 | c.556 others(27): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 5/13 | chr11 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74385425 | ACAATTTA others(3): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0356 | 1 | 380 | 0.0026 | -10 | c.112 others(29): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar |