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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(1883): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0270 | 1 | 322 | 0.0031 | 1890 | c.101 others(1909): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(1883): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0314 | 1 | 184 | 0.0054 | 1890 | c.101 others(1907): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGGATGA others(1883): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0179 | 1 | 95 | 0.0105 | 1890 | c.206 others(1909): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222982 | T | TGCAGTGA others(1883): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0182 | 1 | 168 | 0.0060 | 1890 | c.719 others(1909): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1883): Show |
stop_gained others(1): Show |
HIGH | HG02109.hp1 HG02280.hp2 HG02559.hp2 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0010 a0003c0003t0003g0027 a0003c0003t0003g0068 others(2): Show |
11 | 373 | 0.0295 | 1890 | c.435 others(1897): Show |
p.His others(1903): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1883): Show |
stop_gained others(1): Show |
HIGH | HG02055.hp2 | a0003 | a0003c0022 | a0003c0022t0003 | a0003c0022t0003g0070 | 1 | 363 | 0.0028 | 1890 | c.435 others(1897): Show |
p.His others(1903): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
ADGRA1_chr10_133082924_133136675 | 133111297 | C | CACCACGG others(1884): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0003 | a0003c0028 | a0003c0028t0014 | a0003c0028t0014g0064 | 1 | 234 | 0.0043 | 1891 | c.401 others(1908): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1884): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0007 | a0004c0007t0011 | a0004c0007t0011g0032 | 1 | 89 | 0.0112 | 1891 | c.128 others(1906): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1884): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0197 | 1 | 89 | 0.0112 | 1891 | c.128 others(1906): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1884): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 2 | 3 | 0.6667 | 1891 | c.44- others(1904): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 320273 | G | GGACCGAA others(1884): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0009 | a0009c0059 | a0009c0059t0003 | a0009c0059t0003g0241 | 1 | 166 | 0.0060 | 1891 | c.827 others(1908): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377541 | A | ACCCAGAC others(1884): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 249 | 0.0040 | 1891 | c.228 others(1912): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377647 | G | GCACACGC others(1884): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 288 | 0.0035 | 1891 | c.228 others(1912): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(1884): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 162 | 0.0062 | 1891 | c.-19 others(1902): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393237 | C | CCCTCTCC others(1884): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 151 | 0.0066 | 1891 | c.107 others(1910): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1884): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0131 | 1 | 48 | 0.0208 | 1891 | c.107 others(1910): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(1884): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 151 | 0.0066 | 1891 | c.361 others(1910): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(1884): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02723.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0007 | a0001c0002t0001g0042 a0001c0003t0007g0233 |
2 | 152 | 0.0132 | 1891 | c.361 others(1910): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1884): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0265 | 1 | 2 | 0.5000 | 1891 | c.162 others(1910): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1884): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0188 | 1 | 34 | 0.0294 | 1891 | c.299 others(1906): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1884): Show |
frameshift_variant others(1): Show |
HIGH | HG02145.hp2 | a0003 | a0003c0024 | a0003c0024t0003 | a0003c0024t0003g0072 | 1 | 363 | 0.0028 | 1891 | c.435 others(1898): Show |
p.Leu others(5): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1884): Show |
frameshift_variant others(1): Show |
HIGH | HG02451.hp2 NA18906.hp1 |
a0003 | a0003c0011 | a0003c0011t0003 | a0003c0011t0003g0028 | 2 | 364 | 0.0055 | 1891 | c.435 others(1898): Show |
p.Leu others(5): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | chr19 | TogoVar | |||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(1885): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0007 | a0007c0016 | a0007c0016t0002 | a0007c0016t0002g0229 | 1 | 82 | 0.0122 | 1892 | c.106 others(1911): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1885): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03486.hp1 NA20129.hp2 |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0001a0003c0006t0004 | a0001c0003t0001g0361 a0001c0003t0001g0363 a0003c0006t0004g0362 |
3 | 91 | 0.0330 | 1892 | c.128 others(1907): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647733 | G | GACCCAGT others(1885): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 356 | 0.0028 | 1892 | c.253 others(1907): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1885): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0126 | 1 | 73 | 0.0137 | 1892 | c.-56 others(1911): 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(1885): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 73 | 0.0137 | 1892 | c.-56 others(1911): 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(1885): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02976.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0002others(2): Show | a0001c0001t0001g0124 a0001c0001t0025g0032 a0001c0002t0002g0027 others(3): Show |
6 | 78 | 0.0769 | 1892 | c.-56 others(1911): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725467 | C | CGGTGGAT others(1885): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0272 | 1 | 257 | 0.0039 | 1892 | c.340 others(1909): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377541 | A | ACCCAGAC others(1885): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 249 | 0.0040 | 1892 | c.228 others(1913): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393236 | G | GCCCTCTC others(1885): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0088 | 1 | 148 | 0.0068 | 1892 | c.107 others(1911): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393237 | C | CCCTCTCT others(1885): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0042 | 1 | 151 | 0.0066 | 1892 | c.107 others(1911): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1885): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 a0001c0002t0001g0139 |
2 | 49 | 0.0408 | 1892 | c.107 others(1911): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393246 | T | TCTCTCTC others(1885): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 138 | 0.0072 | 1892 | c.107 others(1911): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393248 | T | TCTCTCTC others(1885): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18983.hp2 |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0020 | a0001c0002t0013g0035 a0001c0002t0020g0120 |
2 | 151 | 0.0132 | 1892 | c.107 others(1911): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150219 | C | CGCCGCCT others(1885): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0001 | 1 | 265 | 0.0038 | 1892 | c.902 others(1907): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150321 | C | CACCACAC others(1885): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 251 | 0.0040 | 1892 | c.902 others(1907): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150717 | C | CACCACAC others(1885): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 219 | 0.0046 | 1892 | c.902 others(1907): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841603 | C | CGACCACG others(1885): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 a0001c0001t0003g0182 |
2 | 152 | 0.0132 | 1892 | c.361 others(1911): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(1885): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0197 | 1 | 151 | 0.0066 | 1892 | c.361 others(1911): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1885): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0144 | 1 | 2 | 0.5000 | 1892 | c.162 others(1911): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1886): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0023 | 1 | 89 | 0.0112 | 1893 | c.128 others(1908): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1886): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0334 | 1 | 89 | 0.0112 | 1893 | c.128 others(1908): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1886): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03486.hp2 NA19240.hp2 |
a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0027 a0005c0008t0004g0332 a0005c0008t0004g0349 |
3 | 91 | 0.0330 | 1893 | c.128 others(1908): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1886): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0112 | 1 | 89 | 0.0112 | 1893 | c.128 others(1908): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1886): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0111 | 1 | 89 | 0.0112 | 1893 | c.128 others(1908): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1886): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02896.hp2 others(3): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0007 | a0001c0003t0003a0002c0002t0001a0004c0007t0005 | a0001c0003t0003g0021 a0002c0002t0001g0015 a0004c0007t0005g0016 others(3): Show |
6 | 94 | 0.0638 | 1893 | c.128 others(1908): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(1886): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0112 | 1 | 332 | 0.0030 | 1893 | c.666 others(1908): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1886): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0022 | a0002c0022t0002 | a0002c0022t0002g0060 | 1 | 2 | 0.5000 | 1893 | c.126 others(1910): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1886): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0082 | 1 | 2 | 0.5000 | 1893 | c.126 others(1910): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |