view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(288): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0246 | 1 | 242 | 0.0041 | 295 | c.129 others(314): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LTBP1_chr2_32941953_33404509 | 33179655 | T | TAGAAATT others(288): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01884.hp2 others(5): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0011a0001c0001t0014a0001c0002t0001others(5): Show | a0001c0001t0011g0006 a0001c0001t0014g0105 a0001c0002t0001g0059 others(5): Show |
8 | 156 | 0.0513 | 295 | c.120 others(314): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LYAR_chr4_4262701_4295154 | 4281315 | A | AAGAACTT others(288): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0159 |
3 | 427 | 0.0070 | 295 | c.237 others(310): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
LYAR_chr4_4262701_4295154 | 4281315 | A | AAGAACTT others(288): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0007t0001 | a0001c0001t0001g0044 a0001c0001t0001g0261 a0001c0001t0005g0160 others(1): Show |
5 | 429 | 0.0117 | 295 | c.237 others(310): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(288): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 87 | 0.0115 | 295 | c.525 others(312): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894908 | T | TATATATA others(288): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0082 | 1 | 73 | 0.0137 | 295 | c.-38 others(314): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894908 | T | TATATATA others(288): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0069 | 1 | 73 | 0.0137 | 295 | c.-38 others(314): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113250552 | T | TAAAAAGT others(288): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0014 | a0003c0014t0005 | a0003c0014t0005g0026 | 1 | 158 | 0.0063 | 295 | c.627 others(314): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCUB_chr4_109555246_109693719 | 109597441 | C | CGGCTGGC others(288): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0263 | 1 | 287 | 0.0035 | 295 | c.99+ others(312): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MED15_chr22_20502610_20592619 | 20521097 | T | TTTTTTTT others(288): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02572.hp2 HG02809.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0274 a0006c0010t0001g0273 a0006c0010t0001g0275 |
3 | 339 | 0.0088 | 295 | c.68+ others(312): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(288): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 102 | 0.0098 | 295 | c.107 others(314): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544549 | A | ACAGTGGC others(288): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 261 | 0.0038 | 295 | c.153 others(314): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MMD2_chr7_4900998_4964187 | 4959821 | G | GGGTGGAG others(288): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 275 | 0.0036 | 295 | c.-80 others(304): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 635 | chr7 | TogoVar | |||||||
MROH2A_chr2_233773330_233838418 | 233787963 | T | TATTATAT others(288): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0062 | a0062c0173 | a0062c0173t0001 | a0062c0173t0001g0090 | 1 | 315 | 0.0032 | 295 | c.277 others(312): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | chr2 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767820 | C | CGCGTGGG others(288): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 364 | 0.0027 | 295 | c.159 others(312): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MYL2_chr12_110905845_110925579 | 110905910 | T | TTATATTA others(288): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 344 | 0.0029 | 295 | c.*51 others(306): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4934 | chr12 | TogoVar | |||||||
MYL2_chr12_110905845_110925579 | 110905933 | A | ATATATAA others(288): Show |
downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 322 | 0.0031 | 295 | c.*51 others(306): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4911 | chr12 | TogoVar | |||||||
MYL2_chr12_110905845_110925579 | 110905933 | A | ATATATAA others(288): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0032 others(3): Show |
38 | 359 | 0.1059 | 295 | c.*51 others(306): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4911 | chr12 | TogoVar | |||||||
MYL2_chr12_110905845_110925579 | 110905933 | A | ATATATAA others(288): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 322 | 0.0031 | 295 | c.*51 others(306): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4911 | chr12 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64190716 | C | CCCAGCAC others(288): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02735.hp2 HG03017.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0017 | a0001c0001t0001a0001c0005t0001a0001c0005t0003others(2): Show | a0001c0001t0001g0162 a0001c0005t0001g0030 a0001c0005t0001g0031 others(3): Show |
6 | 222 | 0.0270 | 295 | c.-1+ others(308): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NBAS_chr2_15161916_15566334 | 15183709 | A | AGAGTTCT others(288): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 221 | 0.0045 | 295 | c.671 others(314): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 50/51 | chr2 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667722 | T | TCCCTTAC others(288): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0359 a0005c0008t0001g0361 |
2 | 183 | 0.0109 | 295 | c.148 others(314): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124417086 | G | GTCACTCC others(288): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0027 | a0001c0027t0021 | a0001c0027t0021g0104 | 1 | 207 | 0.0048 | 295 | c.148 others(314): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 15/48 | chr12 | TogoVar | |||||||
NDUFC1_chr4_139284931_139307477 | 139289133 | A | AAAAAAAA others(288): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0056 a0001c0001t0002g0006 |
2 | 374 | 0.0053 | 295 | c.*97 others(304): Show |
NDUFC1 | ENSG00000109390.13 | transcript | ENST00000394223.2 | protein_coding | 797 | chr4 | TogoVar | |||||||
NEK7_chr1_198151998_198327420 | 198274158 | T | TTCTAGTT others(288): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 a0001c0001t0001g0279 |
2 | 254 | 0.0079 | 295 | c.373 others(312): Show |
NEK7 | ENSG00000151414.15 | transcript | ENST00000367385.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(288): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0085 | 1 | 32 | 0.0313 | 295 | c.563 others(314): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(288): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017a0001c0001t0028others(2): Show | a0001c0001t0006g0080 a0001c0001t0017g0009 a0001c0001t0028g0065 others(3): Show |
6 | 37 | 0.1622 | 295 | c.563 others(314): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(288): Show |
intron_variant | MODIFIER | HG01981.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0024 a0001c0001t0017g0025 |
2 | 33 | 0.0606 | 295 | c.563 others(314): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(288): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0029a0001c0001t0058others(1): Show | a0001c0001t0003g0016 a0001c0001t0029g0015 a0001c0001t0058g0002 others(1): Show |
4 | 35 | 0.1143 | 295 | c.563 others(314): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(288): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18979.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0150 a0001c0001t0001g0182 a0001c0001t0005g0230 |
3 | 34 | 0.0882 | 295 | c.563 others(314): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(288): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0264 | 1 | 32 | 0.0313 | 295 | c.563 others(314): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(288): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0110 | 1 | 32 | 0.0313 | 295 | c.563 others(314): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NFIB_chr9_14076848_14319141 | 14205256 | G | GGGGAAGG others(288): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG01934.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0075others(2): Show | a0001c0001t0002g0143 a0001c0001t0002g0187 a0001c0001t0014g0135 others(4): Show |
7 | 38 | 0.1842 | 295 | c.563 others(314): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995533 | C | CTGTATAT others(288): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0021 | 1 | 84 | 0.0119 | 295 | c.-75 others(314): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCCCC others(288): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0114 | 1 | 299 | 0.0033 | 295 | c.*55 others(306): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993521 | C | CCCCACCT others(288): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0003 | a0002c0003t0031 | a0002c0003t0031g0241 | 1 | 293 | 0.0034 | 295 | c.*56 others(306): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4893 | chr19 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(288): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 157 | 0.0064 | 295 | c.91+ others(308): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397733 | T | TGGGGGTG others(288): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 344 | 0.0029 | 295 | c.91+ others(308): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(288): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0042 | 1 | 30 | 0.0333 | 295 | c.433 others(312): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NUDCD1_chr8_109235919_109339087 | 109337068 | T | TCATTTAA others(288): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0192 | 1 | 313 | 0.0032 | 295 | c.-30 others(306): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2982 | chr8 | TogoVar | |||||||
NXN_chr17_794310_984776 | 891873 | C | CTAACCCC others(288): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 190 | 0.0053 | 295 | c.361 others(314): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(288): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0051 | 1 | 319 | 0.0031 | 295 | c.487 others(312): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 42981486 | G | TGGGGGTC others(288): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0023 | a0001c0005t0005g0280 a0001c0005t0005g0281 a0001c0005t0005g0282 others(3): Show |
6 | 292 | 0.0205 | 295 | c.-78 others(314): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(288): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0009 | a0001c0001t0005g0239 a0001c0001t0007g0238 a0001c0001t0009g0218 |
3 | 70 | 0.0429 | 295 | c.226 others(314): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45896443 | A | ACTGTAGG others(288): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 183 | 0.0055 | 295 | c.165 others(310): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(288): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0156 | 1 | 202 | 0.0050 | 295 | c.20- others(310): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741362 | G | GGGGGGGC others(288): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0201 | 1 | 352 | 0.0028 | 295 | c.143 others(310): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7203222 | T | TAGACTAG others(288): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 267 | 0.0037 | 295 | c.847 others(310): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7203222 | T | TAGACTAG others(288): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 267 | 0.0037 | 295 | c.847 others(310): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59821980 | G | GATCCCAC others(288): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 115 | 0.0087 | 295 | c.132 others(316): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |