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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO7A_chr11_77123246_77220241 | 77178228 | C | CCCATCCA others(1874): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0008 | a0008c0115 | a0008c0115t0001 | a0008c0115t0001g0269 | 1 | 344 | 0.0029 | 1881 | c.228 others(1898): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393243 | C | CTCTCTCT others(1874): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0097 | 1 | 154 | 0.0065 | 1881 | c.107 others(1900): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1874): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0069 a0001c0001t0004g0081 |
2 | 49 | 0.0408 | 1881 | c.107 others(1900): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1874): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 6 | 0.3333 | 1881 | c.189 others(1900): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151626784 | C | CCCTCCCT others(1874): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 232 | 0.0043 | 1881 | c.754 others(1898): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431814 | C | CAGGGTGG others(1874): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0241 | 1 | 185 | 0.0054 | 1881 | c.101 others(1900): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(1874): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG03927.hp2 |
a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0127 a0007c0016t0001g0129 a0007c0016t0001g0130 |
3 | 34 | 0.0882 | 1881 | c.291 others(1900): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1874): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205 | 1 | 146 | 0.0068 | 1881 | c.114 others(1898): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1875): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03669.hp2 HG03942.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0003t0003others(1): Show | a0001c0001t0001g0295 a0001c0001t0007g0292 a0001c0003t0003g0294 others(1): Show |
4 | 92 | 0.0435 | 1882 | c.128 others(1897): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1875): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02280.hp1 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0001c0003t0008a0002c0002t0001 | a0001c0003t0001g0325 a0001c0003t0008g0327 a0002c0002t0001g0062 others(1): Show |
4 | 92 | 0.0435 | 1882 | c.128 others(1897): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1875): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 a0001c0003t0001g0048 |
2 | 90 | 0.0222 | 1882 | c.128 others(1897): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1875): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18949.hp1 NA18964.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0003 | a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0330 others(3): Show |
6 | 94 | 0.0638 | 1882 | c.128 others(1897): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1875): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 89 | 0.0112 | 1882 | c.128 others(1897): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1875): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0026 |
2 | 90 | 0.0222 | 1882 | c.128 others(1897): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1875): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01361.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0006others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0075 a0001c0001t0001g0110 others(17): Show |
21 | 109 | 0.1927 | 1882 | c.128 others(1897): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1875): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG03834.hp2 |
a0001a0003 | a0001c0001a0001c0004a0003c0014 | a0001c0001t0007a0001c0004t0001a0003c0014t0004 | a0001c0001t0007g0087 a0001c0004t0001g0261 a0003c0014t0004g0097 |
3 | 91 | 0.0330 | 1882 | c.128 others(1897): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1875): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 a0001c0001t0001g0323 |
2 | 90 | 0.0222 | 1882 | c.128 others(1897): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(1875): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 117 | 0.0085 | 1882 | c.183 others(1901): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(1875): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG02523.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0025 | a0001c0001t0001g0174 a0001c0001t0011g0155 a0001c0001t0011g0172 others(1): Show |
4 | 254 | 0.0157 | 1882 | c.635 others(1901): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(1875): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0173 |
2 | 252 | 0.0079 | 1882 | c.635 others(1901): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1875): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0324 | 1 | 202 | 0.0050 | 1882 | c.-28 others(1901): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1875): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 202 | 0.0050 | 1882 | c.-28 others(1901): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1875): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG02486.hp1 others(9): Show |
a0001a0002a0016 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0123 others(9): Show |
12 | 213 | 0.0563 | 1882 | c.-28 others(1901): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393246 | T | TCTCTCTC others(1875): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0095 a0001c0001t0015g0096 |
2 | 139 | 0.0144 | 1882 | c.107 others(1901): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393256 | T | TCTCTCTC others(1875): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0013 | 1 | 150 | 0.0067 | 1882 | c.107 others(1901): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1875): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0181 | 1 | 9 | 0.1111 | 1882 | c.*39 others(1893): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1875): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0331 | 1 | 326 | 0.0031 | 1882 | c.119 others(1899): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1875): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03195.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0333 a0001c0001t0004g0351 a0001c0001t0004g0352 |
3 | 328 | 0.0091 | 1882 | c.119 others(1899): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9792131 | G | GCATAGCA others(1875): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 253 | 0.0040 | 1882 | c.165 others(1899): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | chrX | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1875): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 146 | 0.0068 | 1882 | c.114 others(1899): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
BAIAP2L2_chr22_38079900_38115684 | 38110067 | C | CAGAGACA others(1876): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0018 | 1 | 12 | 0.0833 | 1883 | c.51+ others(1896): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1876): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0029 | 1 | 89 | 0.0112 | 1883 | c.128 others(1898): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1876): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 30 | 0.0333 | 1883 | c.445 others(1898): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1876): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 2 | 5 | 0.4000 | 1883 | c.972 others(1896): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1876): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0004 | a0004c0036 | a0004c0036t0001 | a0004c0036t0001g0039 | 1 | 95 | 0.0105 | 1883 | c.*11 others(1904): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1876): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 202 | 0.0050 | 1883 | c.-28 others(1902): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1876): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111 | 1 | 202 | 0.0050 | 1883 | c.-28 others(1902): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1876): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 | 1 | 3 | 0.3333 | 1883 | c.340 others(1900): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1876): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0332 | 1 | 326 | 0.0031 | 1883 | c.119 others(1900): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1876): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02683.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 others(10): Show |
13 | 338 | 0.0385 | 1883 | c.119 others(1900): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAB2A_chr8_60511987_60628644 | 60567703 | A | AGGCCTTA others(1876): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0327 a0001c0001t0004g0328 |
2 | 327 | 0.0061 | 1883 | c.119 others(1900): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1877): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 50 | 0.0200 | 1884 | c.147 others(1901): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1877): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0264 |
3 | 91 | 0.0330 | 1884 | c.128 others(1899): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1877): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02559.hp1 |
a0001 | a0001c0013a0001c0026 | a0001c0013t0023a0001c0026t0001 | a0001c0013t0023g0170 a0001c0013t0023g0171 a0001c0026t0001g0279 |
3 | 75 | 0.0400 | 1884 | c.-56 others(1903): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1877): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 73 | 0.0137 | 1884 | c.-56 others(1903): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478065 | A | AGGGGAAA others(1877): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 87 | 0.0115 | 1884 | c.158 others(1901): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315642 | C | CCCCATCC others(1877): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 a0001c0001t0001g0236 |
2 | 201 | 0.0100 | 1884 | c.259 others(1903): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1877): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0324 | 1 | 96 | 0.0104 | 1884 | c.119 others(1903): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1877): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0202 | 1 | 77 | 0.0130 | 1884 | c.635 others(1903): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1877): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0005a0001c0003t0035 | a0001c0001t0005g0205 a0001c0003t0005g0215 a0001c0003t0005g0216 others(10): Show |
13 | 89 | 0.1461 | 1884 | c.635 others(1903): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |