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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDK1_chr7_3296252_4274000 | 3977260 | C | CCACGCAG others(1888): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0066 | a0002c0066t0023 | a0002c0066t0023g0088 | 1 | 96 | 0.0104 | 1895 | c.199 others(1914): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3977260 | C | CGAGGCTG others(1888): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0030 | a0030c0086 | a0030c0086t0046 | a0030c0086t0046g0012 | 1 | 96 | 0.0104 | 1895 | c.199 others(1914): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1889): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 89 | 0.0112 | 1896 | c.128 others(1911): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1889): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 89 | 0.0112 | 1896 | c.128 others(1911): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1889): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 | 1 | 89 | 0.0112 | 1896 | c.128 others(1911): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1889): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 89 | 0.0112 | 1896 | c.128 others(1911): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39845369 | A | AACCCCAT others(1889): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 | 1 | 73 | 0.0137 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0036 | 1 | 73 | 0.0137 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(42): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0007others(12): Show | a0001c0001t0001g0035 a0001c0001t0001g0086 a0001c0001t0001g0088 others(42): Show |
45 | 117 | 0.3846 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01261.hp2 HG01515.hp2 others(12): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0003others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0106 a0001c0001t0001g0127 others(11): Show |
15 | 87 | 0.1724 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 |
a0001a0009 | a0001c0004a0009c0019 | a0001c0004t0003a0009c0019t0003 | a0001c0004t0003g0116 a0009c0019t0003g0037 |
2 | 74 | 0.0270 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG03831.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0226 |
2 | 74 | 0.0270 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG03486.hp1 HG06807.hp1 |
a0004a0014 | a0004c0020a0014c0021 | a0004c0020t0001a0014c0021t0001 | a0004c0020t0001g0276 a0014c0021t0001g0296 |
2 | 74 | 0.0270 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01255.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0013 a0001c0001t0001g0195 a0001c0001t0001g0251 others(3): Show |
6 | 78 | 0.0769 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01361.hp2 HG02280.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0019a0001c0005t0011a0001c0009t0009others(4): Show | a0001c0001t0019g0051 a0001c0001t0019g0122 a0001c0005t0011g0031 others(9): Show |
12 | 84 | 0.1429 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0010 | a0010c0047 | a0010c0047t0001 | a0010c0047t0001g0067 | 1 | 73 | 0.0137 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0216 | 1 | 73 | 0.0137 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0032 | a0001c0032t0009 | a0001c0032t0009g0169 | 1 | 73 | 0.0137 | 1896 | c.-56 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0158 | 1 | 73 | 0.0137 | 1896 | c.-56 others(1915): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1889): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0319 | 1 | 77 | 0.0130 | 1896 | c.635 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0028 | a0001c0001t0003g0302 a0001c0001t0003g0305 a0001c0001t0019g0304 others(1): Show |
4 | 80 | 0.0500 | 1896 | c.635 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 77 | 0.0130 | 1896 | c.635 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 77 | 0.0130 | 1896 | c.635 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 77 | 0.0130 | 1896 | c.635 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(109): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(108): Show |
112 | 188 | 0.5957 | 1896 | c.635 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0314 a0002c0002t0004g0316 a0002c0002t0004g0317 |
3 | 79 | 0.0380 | 1896 | c.635 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02055.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0009a0002c0002t0012others(3): Show | a0002c0002t0006g0232 a0002c0002t0009g0001 a0002c0002t0009g0231 others(7): Show |
11 | 87 | 0.1264 | 1896 | c.635 others(1915): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(1889): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0116 | 1 | 5 | 0.2000 | 1896 | c.297 others(1913): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953105 | A | ACACGGAC others(1889): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0091 | 1 | 273 | 0.0037 | 1896 | c.503 others(1913): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(1889): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0082 | 1 | 242 | 0.0041 | 1896 | c.129 others(1915): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393241 | C | CTCCCTCT others(1889): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0076 | 1 | 154 | 0.0065 | 1896 | c.107 others(1915): 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(1889): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 48 | 0.0208 | 1896 | c.107 others(1915): 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(1889): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0108 | 1 | 48 | 0.0208 | 1896 | c.107 others(1915): 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(1889): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0003 | 1 | 138 | 0.0072 | 1896 | c.107 others(1915): 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(1889): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1896 | c.-20 others(1907): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1889): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 NA19005.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 10 | 0.3000 | 1896 | c.-20 others(1907): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1889): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 126 | 0.0079 | 1896 | c.45- others(1911): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1889): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 317 | 0.0032 | 1896 | c.114 others(1913): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1890): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0201 a0001c0005t0001g0258 |
2 | 90 | 0.0222 | 1897 | c.128 others(1912): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1890): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0042 | 1 | 89 | 0.0112 | 1897 | c.128 others(1912): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1890): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 77 | 0.0130 | 1897 | c.635 others(1916): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACAGA others(1890): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0002 | 2 | 68 | 0.0294 | 1897 | c.487 others(1912): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
MIER2_chr19_300573_349796 | 310052 | G | GCACACAG others(1890): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 376 | 0.0027 | 1897 | c.985 others(1914): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 10/13 | chr19 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1890): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19055.hp2 |
a0001a0004 | a0001c0003a0004c0007 | a0001c0003t0001a0004c0007t0001 | a0001c0003t0001g0200 a0004c0007t0001g0055 |
2 | 13 | 0.1538 | 1897 | c.228 others(1914): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393236 | G | GCCCTCTC others(1890): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 148 | 0.0068 | 1897 | c.107 others(1916): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393236 | G | GCCCTCTC others(1890): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 148 | 0.0068 | 1897 | c.107 others(1916): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393242 | T | TCTCTCTC others(1890): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0052 | 1 | 154 | 0.0065 | 1897 | c.107 others(1916): 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(1890): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0148 | 1 | 150 | 0.0067 | 1897 | c.107 others(1916): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGCGGGGG others(1890): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 133 | 0.0075 | 1897 | c.147 others(1916): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TACATATT others(1890): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1897 | c.-20 others(1908): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar |