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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGAM1_chr10_97421191_97438444 | 97421856 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG00741.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(14): Show | 42 | 438 | 0.0959 | -8 | c.-44 others(19): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 4334 | chr10 | TogoVar | ||||||
PGAP1_chr2_196828004_196931707 | 196828230 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01515.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0026others(1): Show | a0001c0001t0003g0005a0001c0001t0003g0106a0001c0001t0003g0107others(14): Show | 18 | 188 | 0.0957 | -8 | c.*12 others(21): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 4773 | chr2 | TogoVar | ||||||
PGAP2_chr11_3803560_3831371 | 3814748 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG03041.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0024a0001c0001t0001g0047a0001c0001t0001g0200others(14): Show | 24 | 418 | 0.0574 | -8 | c.166 others(25): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PGAP2_chr11_3803560_3831371 | 3814808 | CTTTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00621.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(18): Show | 35 | 418 | 0.0837 | -8 | c.166 others(25): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PGAP3_chr17_39666122_39693057 | 39684124 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 HG03225.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0053a0001c0001t0001g0113others(5): Show | 9 | 376 | 0.0239 | -8 | c.432 others(23): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
PGAP4_chr9_101468170_101492173 | 101491812 | GATATATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02630.hp1 NA18942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0035 | a0001c0001t0001g0042a0001c0001t0001g0087a0001c0001t0006g0122others(1): Show | 4 | 460 | 0.0087 | -8 | c.-49 others(19): Show |
PGAP4 | ENSG00000165152.9 | transcript | ENST00000374848.8 | protein_coding | 4640 | chr9 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 382948 | GGATACGC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03225.hp1 NA20300.hp2 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0037a0002c0009t0001g0173a0002c0009t0001g0174 | 3 | 376 | 0.0080 | -8 | c.-11 others(19): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 971 | chr16 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230335586 | CACACAGA others(1): Show |
C | intron_variant | MODIFIER | NA18906.hp2 NA18956.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0041a0001c0001t0139 | a0001c0001t0008g0033a0001c0001t0041g0264a0001c0001t0041g0279others(1): Show | 4 | 288 | 0.0139 | -8 | c.107 others(27): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74940547 | GACACAGA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00673.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(26): Show | 77 | 406 | 0.1897 | -8 | c.*21 others(19): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 1286 | chr14 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74940561 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00621.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0070others(25): Show | 43 | 406 | 0.1059 | -8 | c.*21 others(19): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 1272 | chr14 | TogoVar | ||||||
PGGT1B_chr5_115199012_115267877 | 115201372 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01069.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0213a0001c0001t0003g0242others(9): Show | 13 | 372 | 0.0350 | -8 | c.*11 others(21): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 2639 | chr5 | TogoVar | ||||||
PGGT1B_chr5_115199012_115267877 | 115207180 | CATATATA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 HG03130.hp1 NA20129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0056a0001c0001t0082others(1): Show | a0001c0001t0055g0295a0001c0001t0056g0034a0001c0001t0082g0227others(1): Show | 4 | 372 | 0.0108 | -8 | c.*52 others(19): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 9/9 | 5214 | chr5 | TogoVar | |||||
PGK1_chrX_78099248_78134295 | 78122409 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(50): Show | 86 | 308 | 0.2792 | -8 | c.642 others(23): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PGK1_chrX_78099248_78134295 | 78132610 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 308 | 0.0033 | -8 | c.*67 others(19): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 3316 | chrX | TogoVar | ||||||
PGLS_chr19_17506649_17526288 | 17508983 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0085a0001c0002t0001g0003a0001c0002t0001g0008others(32): Show | 93 | 442 | 0.2104 | -8 | c.-26 others(19): Show |
PGLS | ENSG00000130313.7 | transcript | ENST00000252603.7 | protein_coding | 2665 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15470241 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG02074.hp2 HG02135.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0226a0001c0001t0001g0268 | 4 | 382 | 0.0105 | -8 | c.134 others(25): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15473470 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01169.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0114a0001c0001t0001g0252a0001c0001t0001g0280others(19): Show | 22 | 382 | 0.0576 | -8 | c.113 others(27): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482539 | CCTTTCTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG02004.hp1 HG02723.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0168a0002c0002t0001g0067a0003c0003t0001g0016others(2): Show | 5 | 382 | 0.0131 | -8 | c.-31 others(19): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3039 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482563 | TCTTCCTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02300.hp1 HG03098.hp1 HG03834.hp2 others(3): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0015 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0256a0001c0001t0001g0266a0001c0001t0003g0046others(3): Show | 6 | 382 | 0.0157 | -8 | c.-32 others(19): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3063 | chr19 | TogoVar | ||||||
PGLYRP2_chr19_15463645_15484501 | 15482612 | CTTCTTTC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02004.hp1 others(9): Show |
a0001a0003a0005 | a0001c0001a0001c0011a0003c0003others(2): Show | a0001c0001t0001a0001c0011t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0047others(9): Show | 12 | 382 | 0.0314 | -8 | c.-32 others(19): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3112 | chr19 | TogoVar | ||||||
PGLYRP3_chr1_153292116_153317952 | 153297499 | AAAGGAAG others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG02109.hp1 HG02486.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0063a0003c0006t0035 | a0001c0001t0063g0198a0003c0006t0035g0060 | 3 | 434 | 0.0069 | -8 | c.*44 others(17): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 449 | chr1 | TogoVar | |||||
PGLYRP3_chr1_153292116_153317952 | 153297546 | GGAAGGAA others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01175.hp2 others(14): Show |
a0002a0004a0006 | a0002c0002a0004c0004a0006c0010 | a0002c0002t0010a0002c0002t0049a0002c0002t0074others(3): Show | a0002c0002t0010g0017a0002c0002t0010g0062a0002c0002t0010g0200others(9): Show | 17 | 434 | 0.0392 | -8 | c.*40 others(17): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 402 | chr1 | TogoVar | |||||
PGLYRP3_chr1_153292116_153317952 | 153297557 | AAGAAAAA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01109.hp2 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0030a0001c0001t0033a0002c0002t0016others(5): Show | a0001c0001t0030g0026a0001c0001t0033g0072a0002c0002t0016g0035others(8): Show | 16 | 434 | 0.0369 | -8 | c.*39 others(17): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 391 | chr1 | TogoVar | |||||
PGLYRP3_chr1_153292116_153317952 | 153297577 | GAAAGAAG others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(50): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0111a0002c0002t0005a0002c0002t0010others(15): Show | a0001c0001t0111g0118a0002c0002t0005g0007a0002c0002t0005g0036others(30): Show | 53 | 434 | 0.1221 | -8 | c.*37 others(17): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 371 | chr1 | TogoVar | |||||
PGLYRP4_chr1_153325120_153353841 | 153350628 | GAAAGGAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02896.hp2 HG02897.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0043others(3): Show | 11 | 392 | 0.0281 | -8 | c.-21 others(19): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1788 | chr1 | TogoVar | ||||||
PGLYRP4_chr1_153325120_153353841 | 153352369 | AATTATTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02074.hp2 HG02080.hp1 HG02258.hp1 others(14): Show |
a0002a0010 | a0002c0002a0002c0005a0010c0012 | a0002c0002t0001a0002c0002t0004a0002c0005t0001others(3): Show | a0002c0002t0001g0044a0002c0002t0001g0122a0002c0002t0004g0131others(7): Show | 17 | 392 | 0.0434 | -8 | c.-38 others(19): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 3529 | chr1 | TogoVar | ||||||
PGM1_chr1_63588411_63665245 | 63594788 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG01952.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0128others(13): Show | 16 | 366 | 0.0437 | -8 | c.246 others(25): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM1_chr1_63588411_63665245 | 63604917 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01952.hp1 HG02004.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(7): Show | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0128others(17): Show | 20 | 366 | 0.0546 | -8 | c.246 others(27): Show |
PGM1 | ENSG00000079739.17 | transcript | ENST00000371084.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PGM2L1_chr11_74325316_74403433 | 74329222 | TAATAAAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00741.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0002a0001c0013t0031a0002c0002t0004others(3): Show | a0001c0001t0002g0127a0001c0013t0031g0343a0002c0002t0004g0285others(5): Show | 8 | 380 | 0.0211 | -8 | c.*74 others(19): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1093 | chr11 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37841072 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | NA18939.hp1 NA18947.hp2 NA18950.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0125a0001c0001t0001g0126others(9): Show | 14 | 446 | 0.0314 | -8 | c.719 others(23): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PGM2_chr4_37821686_37867937 | 37852133 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02132.hp1 NA18947.hp1 NA18994.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0340a0001c0001t0001g0352 | 7 | 446 | 0.0157 | -8 | c.160 others(27): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PGM2_chr4_37821686_37867937 | 37853359 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0010a0002c0003t0006others(3): Show | a0001c0001t0001g0130a0001c0001t0001g0198a0001c0002t0010g0115others(6): Show | 9 | 446 | 0.0202 | -8 | c.160 others(27): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68357912 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01081.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0024a0001c0002t0002a0001c0003t0014others(4): Show | a0001c0001t0024g0207a0001c0002t0002g0014a0001c0002t0002g0015others(7): Show | 10 | 246 | 0.0407 | -8 | c.261 others(23): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68376475 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01255.hp2 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(7): Show | a0001c0001t0001g0086a0001c0001t0001g0126a0001c0001t0001g0147others(25): Show | 28 | 246 | 0.1138 | -8 | c.262 others(25): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68376765 | ATTTCTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(22): Show |
a0001a0005 | a0001c0001a0001c0012a0005c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0143a0001c0001t0001g0146a0001c0001t0001g0147others(22): Show | 25 | 246 | 0.1016 | -8 | c.262 others(25): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68401885 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01106.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(8): Show | a0001c0001t0003g0200a0001c0001t0003g0201a0001c0001t0003g0202others(17): Show | 20 | 246 | 0.0813 | -8 | c.104 others(27): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68406670 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01346.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0102a0001c0001t0001g0190a0001c0001t0001g0194others(15): Show | 18 | 246 | 0.0732 | -8 | c.104 others(29): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68487463 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG03195.hp2 HG03471.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104a0001c0001t0004g0105a0001c0001t0004g0107 | 3 | 246 | 0.0122 | -8 | c.147 others(27): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68519897 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp1 HG02258.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0004g0104a0001c0001t0004g0105a0001c0001t0004g0107others(15): Show | 18 | 246 | 0.0732 | -8 | c.161 others(27): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGM5_chr9_68351611_68536061 | 68529164 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG02109.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0016a0001c0002t0002a0001c0003t0015others(2): Show | a0001c0001t0016g0092a0001c0002t0002g0060a0001c0002t0002g0063others(3): Show | 6 | 246 | 0.0244 | -8 | c.161 others(25): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGPEP1L_chr15_98963229_99012792 | 98968892 | GCCTCATG others(1): Show |
G | intron_variant | MODIFIER | NA18939.hp2 NA19000.hp1 NA19070.hp1 |
a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0124a0000c0002t0001g0127a0000c0002t0001g0129 | 3 | 398 | 0.0075 | -8 | c.210 others(23): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 4/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98971203 | GGGGGGGG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(102): Show |
a0000a0001a0002 | a0000c0002a0000c0005a0001c0001others(1): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0005others(10): Show | a0000c0002t0001g0001a0000c0002t0001g0003a0000c0002t0001g0004others(98): Show | 105 | 398 | 0.2638 | -8 | c.-14 others(23): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98972872 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0047a0001c0001t0001g0173others(8): Show | 12 | 398 | 0.0302 | -8 | c.-14 others(27): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98979633 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00741.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(23): Show | 26 | 398 | 0.0653 | -8 | c.-14 others(27): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 98996524 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(259): Show |
a0000a0001a0002others(3): Show | a0000c0002a0000c0005a0000c0010others(6): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0006others(35): Show | a0000c0002t0001g0001a0000c0002t0001g0003a0000c0002t0001g0004others(255): Show | 262 | 398 | 0.6583 | -8 | c.-14 others(27): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
PGRMC1_chrX_119231285_119249466 | 119236813 | AGGGTAGG others(1): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 264 | 0.0038 | -8 | c.328 others(23): Show |
PGRMC1 | ENSG00000101856.10 | transcript | ENST00000217971.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PGRMC2_chr4_128264242_128292813 | 128277157 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01433.hp1 HG01496.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0088a0001c0001t0002g0027a0001c0001t0004g0005others(5): Show | 21 | 436 | 0.0482 | -8 | c.419 others(25): Show |
PGRMC2 | ENSG00000164040.18 | transcript | ENST00000296425.10 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101045665 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02896.hp1 others(5): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0018 | a0001c0001t0027a0001c0001t0062a0001c0001t0063others(3): Show | a0001c0001t0027g0059a0001c0001t0027g0151a0001c0001t0062g0058others(4): Show | 8 | 254 | 0.0315 | -8 | c.248 others(27): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG02738.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0079a0001c0002t0001a0001c0002t0057others(1): Show | a0001c0001t0079g0040a0001c0002t0001g0112a0001c0002t0001g0113others(9): Show | 12 | 254 | 0.0472 | -8 | c.248 others(27): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101052269 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01175.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0027others(14): Show | a0001c0001t0003g0068a0001c0001t0004g0219a0001c0001t0004g0224others(20): Show | 24 | 254 | 0.0945 | -8 | c.221 others(25): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4/7 | chr11 | TogoVar |