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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGGGGGGG others(1894): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 133 | 0.0075 | 1901 | c.147 others(1920): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803280 | G | GCCGGGGG others(1894): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0063 | 1 | 247 | 0.0040 | 1901 | c.-49 others(1912): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4667 | chr9 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1894): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0069 | 1 | 126 | 0.0079 | 1901 | c.45- others(1916): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1894): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 208 | 0.0048 | 1901 | c.115 others(1918): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50057338 | A | AGTCAGGT others(1894): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0193 | 1 | 195 | 0.0051 | 1901 | c.-38 others(1916): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1895): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0013 | a0013c0007 | a0013c0007t0001 | a0013c0007t0001g0004 | 1 | 13 | 0.0769 | 1902 | c.354 others(1921): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(1895): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0031 | 1 | 2 | 0.5000 | 1902 | c.126 others(1919): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCACCACC others(1895): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 174 | 0.0057 | 1902 | c.-25 others(1919): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1895): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0051 | a0003c0051t0001 | a0003c0051t0001g0003 | 1 | 95 | 0.0105 | 1902 | c.*11 others(1923): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCCTCACC others(1895): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0035 | a0004c0035t0005 | a0004c0035t0005g0020 | 1 | 17 | 0.0588 | 1902 | c.*11 others(1923): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1895): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0049 | a0049c0121 | a0049c0121t0001 | a0049c0121t0001g0195 | 1 | 32 | 0.0313 | 1902 | c.218 others(1917): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(1895): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0057 | a0057c0061 | a0057c0061t0003 | a0057c0061t0003g0101 | 1 | 83 | 0.0120 | 1902 | c.377 others(1919): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1895): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0068 | a0001c0068t0001 | a0001c0068t0001g0333 | 1 | 12 | 0.0833 | 1902 | c.228 others(1919): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1895): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0129 | 1 | 48 | 0.0208 | 1902 | c.107 others(1921): 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(1895): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18969.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0024 a0001c0002t0007g0086 |
2 | 49 | 0.0408 | 1902 | c.107 others(1921): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79257520 | G | GTGGTGGT others(1895): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023 | 1 | 10 | 0.1000 | 1902 | c.326 others(1925): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1895): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 126 | 0.0079 | 1902 | c.45- others(1917): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356715 | T | TGGTCACA others(1896): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 234 | 0.0043 | 1903 | c.351 others(1922): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(1896): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 312 | 0.0032 | 1903 | c.513 others(1918): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1896): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18945.hp1 NA18956.hp1 others(5): Show |
a0001a0017 | a0001c0007a0001c0016a0001c0017others(1): Show | a0001c0007t0013a0001c0007t0015a0001c0016t0004others(2): Show | a0001c0007t0013g0065 a0001c0007t0013g0208 a0001c0007t0013g0245 others(5): Show |
8 | 80 | 0.1000 | 1903 | c.-56 others(1922): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586401 | C | CCGGGGGG others(1896): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0105 | 1 | 227 | 0.0044 | 1903 | c.157 others(1920): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
HHLA2_chr3_108291548_108383285 | 108328774 | G | GAGAAAAT others(1896): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0210 | 1 | 320 | 0.0031 | 1903 | c.-27 others(1922): Show |
HHLA2 | ENSG00000114455.15 | transcript | ENST00000467761.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1896): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 48 | 0.0208 | 1903 | c.107 others(1922): 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(1896): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 150 | 0.0067 | 1903 | c.107 others(1922): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393291 | C | CTCTCTCG others(1896): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0132 | 1 | 149 | 0.0067 | 1903 | c.107 others(1922): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1896): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01106.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 11 | 18 | 0.6111 | 1903 | c.-20 others(1914): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1896): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1903 | c.-20 others(1914): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1896): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0001 | a0003c0001t0048 | a0003c0001t0048g0141 | 1 | 192 | 0.0052 | 1903 | c.89- others(1916): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(1896): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 315 | 0.0032 | 1903 | c.115 others(1920): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930709 | C | CCGGGGTT others(1896): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 434 | 0.0023 | 1903 | c.*48 others(1914): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4660 | chr11 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(1897): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0036 | 1 | 243 | 0.0041 | 1904 | c.666 others(1919): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803223 | C | CCCAGGGC others(1897): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0007 | a0007c0011 | a0007c0011t0002 | a0007c0011t0002g0118 | 1 | 355 | 0.0028 | 1904 | c.666 others(1919): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1897): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0005g0049 others(2): Show |
5 | 34 | 0.1471 | 1904 | c.445 others(1919): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642717 | G | GAGGAAGG others(1897): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0023 | a0023c0024 | a0023c0024t0005 | a0023c0024t0005g0043 | 1 | 419 | 0.0024 | 1904 | c.*21 others(1915): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2012 | chr11 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1897): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0130 | 1 | 48 | 0.0208 | 1904 | c.107 others(1923): 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(1897): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 48 | 0.0208 | 1904 | c.107 others(1923): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1897): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1904 | c.-20 others(1915): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1897): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1904 | c.-20 others(1915): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803223 | C | CCCAGGGC others(1897): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0111 | 1 | 295 | 0.0034 | 1904 | c.-49 others(1915): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4724 | chr9 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(1897): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 305 | 0.0033 | 1904 | c.*35 others(1923): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1898): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19030.hp1 |
a0019 | a0019c0030 | a0019c0030t0007 | a0019c0030t0007g0032 a0019c0030t0007g0239 |
2 | 43 | 0.0465 | 1905 | c.179 others(1920): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1898): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0083 | 1 | 73 | 0.0137 | 1905 | c.-56 others(1924): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393240 | T | TCTCTCTC others(1898): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0117 | 1 | 153 | 0.0065 | 1905 | c.107 others(1924): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1898): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 132 | 0.0076 | 1905 | c.107 others(1924): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1898): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 132 | 0.0076 | 1905 | c.107 others(1924): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1898): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 210 | 0.0048 | 1905 | c.*22 others(1916): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(1898): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0040 | 1 | 82 | 0.0122 | 1905 | c.147 others(1922): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(1898): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0013 | a0013c0016 | a0013c0016t0003 | a0013c0016t0003g0135 | 1 | 82 | 0.0122 | 1905 | c.147 others(1922): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(1898): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 a0001c0001t0003g0009 |
2 | 14 | 0.1429 | 1905 | c.*13 others(1918): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971327 | G | TGAGCTGC others(1898): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0175 | 1 | 181 | 0.0055 | 1905 | c.157 others(1924): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | chr11 | TogoVar |