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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL23A1_chr5_178232618_178595393 | 178585587 | A | ATGACGCT others(1868): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0062 | 1 | 185 | 0.0054 | 1875 | c.294 others(1892): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1868): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0132 | 1 | 2 | 0.5000 | 1875 | c.126 others(1892): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 81 | 0.0123 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 81 | 0.0123 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 81 | 0.0123 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 81 | 0.0123 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 81 | 0.0123 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 81 | 0.0123 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01943.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 others(2): Show |
5 | 85 | 0.0588 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 others(62): Show |
65 | 145 | 0.4483 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
2 | 82 | 0.0244 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01192.hp1 HG01258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0002g0186 a0001c0001t0002g0190 others(3): Show |
6 | 86 | 0.0698 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01168.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(39): Show |
43 | 123 | 0.3496 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0021 | 1 | 81 | 0.0123 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18944.hp1 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0140 others(4): Show |
7 | 87 | 0.0805 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110178783 | T | TTTTTTGT others(1868): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 81 | 0.0123 | 1875 | c.118 others(1894): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1868): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0013 | a0001c0013t0023 | a0001c0013t0023g0078 | 1 | 95 | 0.0105 | 1875 | c.*11 others(1896): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1868): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0216 | 1 | 3 | 0.3333 | 1875 | c.340 others(1892): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1868): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 3 | 0.3333 | 1875 | c.340 others(1892): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1868): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 3 | 0.3333 | 1875 | c.340 others(1892): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1868): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00558.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0023 others(44): Show |
47 | 49 | 0.9592 | 1875 | c.340 others(1892): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1868): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 48 | 0.0208 | 1875 | c.107 others(1894): 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(1868): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0014 | 1 | 9 | 0.1111 | 1875 | c.*39 others(1886): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 218124 | C | CTCGCTGA others(1868): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 123 | 0.0081 | 1875 | c.727 others(1892): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 218124 | C | CTCGCTGA others(1868): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01496.hp1 HG01978.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0002g0078 a0001c0001t0004g0021 a0001c0001t0004g0039 others(4): Show |
7 | 129 | 0.0543 | 1875 | c.727 others(1892): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169273 | C | CCCTCCCT others(1868): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0026 | 1 | 107 | 0.0093 | 1875 | c.*75 others(1884): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 670 | chrX | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1869): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0031 | 1 | 40 | 0.0250 | 1876 | c.179 others(1897): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758432 | T | TCACCTGC others(1869): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0054 | a0054c0079 | a0054c0079t0001 | a0054c0079t0001g0093 | 1 | 173 | 0.0058 | 1876 | c.655 others(1895): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333769 | T | TGAGGATA others(1869): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 327 | 0.0031 | 1876 | c.891 others(1891): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1869): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 2 | 0.5000 | 1876 | c.44- others(1889): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933856 | G | GTGAGCGG others(1869): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0035 | 1 | 376 | 0.0027 | 1876 | c.198 others(1891): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(1869): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0164 | 1 | 158 | 0.0063 | 1876 | c.126 others(1893): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1869): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01109.hp2 others(3): Show |
a0001a0002a0004 | a0001c0002a0001c0010a0001c0024others(2): Show | a0001c0002t0004a0001c0010t0001a0001c0024t0010others(3): Show | a0001c0002t0004g0002 a0001c0010t0001g0073 a0001c0024t0010g0062 others(3): Show |
6 | 8 | 0.7500 | 1876 | c.219 others(1895): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1869): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0003 | a0003c0038 | a0003c0038t0001 | a0003c0038t0001g0024 | 1 | 95 | 0.0105 | 1876 | c.*11 others(1897): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1869): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0214 |
3 | 5 | 0.6000 | 1876 | c.340 others(1893): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1869): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0114 | 1 | 3 | 0.3333 | 1876 | c.340 others(1893): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393252 | T | TCTCTCTC others(1869): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 151 | 0.0066 | 1876 | c.107 others(1895): 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(1869): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 5 | 0.2000 | 1876 | c.189 others(1895): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1869): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0167 | 1 | 5 | 0.2000 | 1876 | c.189 others(1895): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1869): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1876 | c.-20 others(1887): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79483442 | C | CCCTCCCT others(1869): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 54 | 0.0185 | 1876 | c.-31 others(1893): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 257294 | G | GTGACTAC others(1869): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015 | 1 | 130 | 0.0077 | 1876 | c.439 others(1895): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1302431 | A | ATTTCTAA others(1869): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0010 | a0010c0016 | a0010c0016t0003 | a0010c0016t0003g0301 | 1 | 341 | 0.0029 | 1876 | c.440 others(1893): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1869): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 277 | 0.0036 | 1876 | c.129 others(1893): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1869): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0167 |
2 | 147 | 0.0136 | 1876 | c.114 others(1893): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917075 | G | GTGGGGCT others(1869): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 330 | 0.0030 | 1876 | c.218 others(1891): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049591 | A | AGCCCCCC others(1870): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0027 | 1 | 21 | 0.0476 | 1877 | c.255 others(1894): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713593 | T | TCTGTGTG others(1870): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 318 | 0.0031 | 1877 | c.127 others(1894): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1870): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02486.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0020a0001c0006t0027others(1): Show | a0001c0006t0001g0041 a0001c0006t0001g0153 a0001c0006t0001g0159 others(4): Show |
7 | 79 | 0.0886 | 1877 | c.-56 others(1896): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478066 | A | AAAGAAGG others(1870): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0078 | 1 | 74 | 0.0135 | 1877 | c.158 others(1894): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar |