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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PEBP4_chr8_22708251_22932914 | 22810707 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 |
a0006a0007 | a0006c0007a0007c0009 | a0006c0007t0003a0007c0009t0002 | a0006c0007t0003g0048a0007c0009t0002g0165 | 2 | 278 | 0.0072 | -10 | c.357 others(27): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22855035 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp1 HG01891.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(9): Show | a0001c0001t0001g0066a0001c0001t0001g0152a0001c0001t0002g0221others(18): Show | 21 | 278 | 0.0755 | -10 | c.259 others(29): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22898389 | CCCAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp2 HG01928.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0021others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0063a0001c0001t0002g0196a0002c0002t0001g0067others(7): Show | 10 | 278 | 0.0360 | -10 | c.258 others(29): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
PECAM1_chr17_64314415_64395860 | 64353304 | GGTACACA others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020a0001c0001t0033 | a0001c0001t0004g0150a0001c0001t0004g0153a0001c0001t0004g0154others(3): Show | 6 | 288 | 0.0208 | -10 | c.191 others(27): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 10/15 | chr17 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216043049 | ATACACAT others(3): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0006 | a0006c0005 | a0006c0005t0009 | a0006c0005t0009g0381 | 1 | 398 | 0.0025 | -10 | c.826 others(25): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 7/7 | chr2 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216061311 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG03486.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010 | a0002c0002t0002g0175a0002c0002t0002g0376a0002c0002t0002g0378others(1): Show | 4 | 398 | 0.0101 | -10 | c.425 others(27): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 3/7 | chr2 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216061334 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01433.hp1 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0266a0001c0001t0004g0373a0001c0001t0004g0374 | 3 | 398 | 0.0075 | -10 | c.425 others(27): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 3/7 | chr2 | TogoVar | ||||||
PEF1_chr1_31624866_31649876 | 31637643 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 346 | 0.0029 | -10 | c.25- others(25): Show |
PEF1 | ENSG00000162517.13 | transcript | ENST00000373703.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
PEG3_chr19_56805082_56845726 | 56811062 | AAGAGGAG others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0004 | a0001c0004t0050 | a0001c0004t0050g0168 | 1 | 416 | 0.0024 | -10 | c.*26 others(21): Show |
PEG3 | ENSG00000198300.14 | transcript | ENST00000326441.15 | protein_coding | 10/10 | 2603 | chr19 | TogoVar | |||||
PELI1_chr2_64087652_64149420 | 64088942 | ATCTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0248 | 1 | 304 | 0.0033 | -10 | c.*57 others(21): Show |
PELI1 | ENSG00000197329.12 | transcript | ENST00000358912.5 | protein_coding | 3709 | chr2 | TogoVar | ||||||
PELI2_chr14_56113411_56306524 | 56119388 | TGCTCTGG others(3): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 368 | 0.0027 | -10 | c.77+ others(23): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELI2_chr14_56113411_56306524 | 56197916 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 368 | 0.0027 | -10 | c.207 others(29): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELI2_chr14_56113411_56306524 | 56197969 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01515.hp2 NA19065.hp1 NA20752.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0288a0001c0001t0001g0339a0001c0001t0005g0343others(1): Show | 4 | 368 | 0.0109 | -10 | c.207 others(29): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELP1_chr17_4664774_4709137 | 4668878 | CACATATA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009a0001c0001t0002g0254 | 2 | 316 | 0.0063 | -10 | c.*25 others(21): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 895 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17504488 | TGGCGGTG others(3): Show |
T | downstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 348 | 0.0029 | -10 | c.*12 others(21): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1074 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17534895 | CTATTTTA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00673.hp2 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0061a0001c0001t0001g0093others(33): Show | 36 | 348 | 0.1035 | -10 | c.205 others(29): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586274 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0063 | 1 | 348 | 0.0029 | -10 | c.96+ others(25): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586280 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02886.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0169a0001c0001t0001g0176a0001c0001t0001g0333others(1): Show | 4 | 348 | 0.0115 | -10 | c.96+ others(25): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17586284 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0090others(2): Show | 5 | 348 | 0.0144 | -10 | c.96+ others(25): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33385053 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0184 | 1 | 314 | 0.0032 | -10 | c.*22 others(21): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 1896 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33474981 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0146a0001c0001t0001g0152a0001c0001t0001g0153others(17): Show | 20 | 314 | 0.0637 | -10 | c.548 others(27): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 7/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33495987 | CAAAAAAC others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00733.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0186a0001c0001t0001g0187others(43): Show | 46 | 314 | 0.1465 | -10 | c.394 others(27): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 4/14 | chr19 | TogoVar | ||||||
PER1_chr17_8135472_8157404 | 8139019 | GCCGGCTC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0132 | 1 | 426 | 0.0024 | -10 | c.*20 others(21): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 1452 | chr17 | TogoVar | ||||||
PER1_chr17_8135472_8157404 | 8145084 | ACCCCTGG others(3): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 426 | 0.0024 | -10 | c.221 others(26): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 17/22 | chr17 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238247448 | GGAACGAC others(3): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03540.hp2 |
a0001 | a0001c0016a0001c0017 | a0001c0016t0036a0001c0017t0001 | a0001c0016t0036g0071a0001c0017t0001g0070 | 2 | 370 | 0.0054 | -10 | c.361 others(27): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 22/22 | chr2 | TogoVar | ||||||
PERP_chr6_138083505_138112419 | 138106461 | GAGTGTAG others(3): Show |
G | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 430 | 0.0023 | -10 | c.214 others(25): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PERP_chr6_138083505_138112419 | 138107361 | CGAGCGGA others(3): Show |
C | 5_prime_UTR_variant | MODIFIER | NA18974.hp2 NA18980.hp2 NA18983.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0028 | a0002c0002t0028g0021 | 4 | 430 | 0.0093 | -10 | c.-31 others(17): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 1/3 | 22 | chr6 | TogoVar | |||||
PET117_chr20_18132863_18148169 | 18135034 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | 424 | 0.0047 | -10 | c.-29 others(21): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 2828 | chr20 | TogoVar | ||||||
PET117_chr20_18132863_18148169 | 18139633 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 424 | 0.0024 | -10 | c.96+ others(25): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PEX10_chr1_2398974_2417564 | 2401200 | CTGTCCTC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02135.hp1 NA18747.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0028a0001c0001t0006g0088 | 3 | 358 | 0.0084 | -10 | c.*45 others(21): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2773 | chr1 | TogoVar | ||||||
PEX11B_chr1_145906350_145923717 | 145907759 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | -10 | c.*43 others(21): Show |
PEX11B | ENSG00000131779.11 | transcript | ENST00000369306.8 | protein_coding | 3590 | chr1 | TogoVar | ||||||
PEX11G_chr19_7471875_7494035 | 7490642 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 416 | 0.0024 | -10 | c.-16 others(21): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 1608 | chr19 | TogoVar | ||||||
PEX11G_chr19_7471875_7494035 | 7491263 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02523.hp2 NA18961.hp1 NA19089.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031a0001c0002t0001g0070 | 3 | 416 | 0.0072 | -10 | c.-22 others(21): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2229 | chr19 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35570720 | TTCTTTCT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01167.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0011others(6): Show | 18 | 436 | 0.0413 | -10 | c.*50 others(21): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4074 | chr17 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35570846 | CTTTCTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 436 | 0.0023 | -10 | c.*49 others(21): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 3948 | chr17 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35581273 | AATATATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | -10 | c.-32 others(21): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2703 | chr17 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35583514 | TTCTCTCT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0009others(2): Show | 66 | 436 | 0.1514 | -10 | c.-55 others(21): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 4944 | chr17 | TogoVar | ||||||
PEX13_chr2_61012720_61056990 | 61012861 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 354 | 0.0028 | -10 | c.-48 others(21): Show |
PEX13 | ENSG00000162928.9 | transcript | ENST00000295030.6 | protein_coding | 4858 | chr2 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10487481 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 258 | 0.0039 | -10 | c.37- others(25): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10498280 | TAAAACAA others(3): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0097a0001c0001t0001g0246others(1): Show | 4 | 258 | 0.0155 | -10 | c.84+ others(25): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10500373 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18999.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0066 | 2 | 258 | 0.0078 | -10 | c.84+ others(25): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10553640 | GCTTCTCC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(77): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(77): Show | 80 | 258 | 0.3101 | -10 | c.169 others(29): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10565404 | GTATAGCC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01070.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0077a0001c0001t0001g0082others(9): Show | 12 | 258 | 0.0465 | -10 | c.169 others(29): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577554 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp1 HG02809.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0008a0001c0001t0001g0048a0001c0001t0001g0227others(4): Show | 7 | 258 | 0.0271 | -10 | c.170 others(29): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577556 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 258 | 0.0039 | -10 | c.170 others(29): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577558 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 258 | 0.0039 | -10 | c.170 others(29): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577560 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 258 | 0.0039 | -10 | c.170 others(29): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG03669.hp1 NA18999.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0034a0001c0002t0001g0237a0001c0003t0001g0036 | 3 | 258 | 0.0116 | -10 | c.170 others(29): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10586628 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00733.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0039a0001c0001t0001g0054others(28): Show | 31 | 258 | 0.1202 | -10 | c.170 others(29): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10595008 | AGGATGTA others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 258 | 0.0039 | -10 | c.170 others(27): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | chr1 | TogoVar |