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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(1898): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 305 | 0.0033 | 1905 | c.*35 others(1924): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(1899): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 233 | 0.0043 | 1906 | c.366 others(1923): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(1899): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 233 | 0.0043 | 1906 | c.366 others(1923): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(1899): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 248 | 0.0040 | 1906 | c.157 others(1921): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1899): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0047 | a0001c0002t0047g0118 | 1 | 48 | 0.0208 | 1906 | c.107 others(1925): 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(1899): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0011 | 1 | 48 | 0.0208 | 1906 | c.107 others(1925): 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(1899): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 48 | 0.0208 | 1906 | c.107 others(1925): 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(1899): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0032 a0001c0002t0003g0033 |
2 | 49 | 0.0408 | 1906 | c.107 others(1925): 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(1899): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 48 | 0.0208 | 1906 | c.107 others(1925): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ACTATATA others(1899): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 278 | 0.0036 | 1906 | c.-15 others(1917): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128154003 | T | TCAGAAGC others(1899): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0052 | 1 | 52 | 0.0192 | 1906 | c.116 others(1927): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 7/29 | chr6 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377606 | G | GCCCCACC others(1899): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 309 | 0.0032 | 1906 | c.-16 others(1917): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1581 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763771 | T | TCTTGTCC others(1900): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0007 | a0007c0026 | a0007c0026t0050 | a0007c0026t0050g0214 | 1 | 214 | 0.0047 | 1907 | c.108 others(1924): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1900): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092 | 1 | 69 | 0.0145 | 1907 | c.*52 others(1918): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586535 | G | GGTGAAAG others(1900): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0232 | 1 | 298 | 0.0034 | 1907 | c.157 others(1924): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCTCTCTC others(1900): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0016 | 1 | 132 | 0.0076 | 1907 | c.107 others(1926): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124289 | A | AGGATCAT others(1900): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0020 | 1 | 169 | 0.0059 | 1907 | c.335 others(1926): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1900): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 126 | 0.0079 | 1907 | c.45- others(1922): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917081 | C | CTCGGAGG others(1900): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0232 | 1 | 298 | 0.0034 | 1907 | c.218 others(1922): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1901): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0079 | 1 | 13 | 0.0769 | 1908 | c.354 others(1927): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1901): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 45 | 0.0222 | 1908 | c.289 others(1927): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1901): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0246 | 1 | 7 | 0.1429 | 1908 | c.*16 others(1919): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1901): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG04204.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0212 a0001c0002t0001g0220 |
2 | 8 | 0.2500 | 1908 | c.*16 others(1919): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 978012 | G | GGCTGGGT others(1901): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0006 | 1 | 39 | 0.0256 | 1908 | c.73+ others(1925): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911580 | G | GGGGGGGT others(1901): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0020 | a0020c0081 | a0020c0081t0002 | a0020c0081t0002g0155 | 1 | 126 | 0.0079 | 1908 | c.101 others(1927): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1901): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 7 | 0.1429 | 1908 | c.*22 others(1919): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1901): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG04204.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 2 | 8 | 0.2500 | 1908 | c.*22 others(1919): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586535 | G | GGTGAAAG others(1901): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0229 | 1 | 298 | 0.0034 | 1908 | c.157 others(1925): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435244 | A | AAGGAAGG others(1901): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0050 | 1 | 81 | 0.0123 | 1908 | c.-16 others(1929): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711815 | T | TCATACCA others(1901): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 77 | 0.0130 | 1908 | c.635 others(1927): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218008 | C | CCTCAACA others(1901): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0005 | 1 | 104 | 0.0096 | 1908 | c.*24 others(1919): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 839 | chr8 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197877454 | G | GCAGTGAT others(1901): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0164 | 1 | 195 | 0.0051 | 1908 | c.220 others(1927): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1901): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0019 | a0019c0017 | a0019c0017t0015 | a0019c0017t0015g0237 | 1 | 32 | 0.0313 | 1908 | c.218 others(1923): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CCTCTCTC others(1901): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02129.hp2 HG02155.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0019 | a0001c0002t0001g0026 a0001c0002t0001g0087 a0001c0002t0001g0102 others(3): Show |
6 | 53 | 0.1132 | 1908 | c.107 others(1927): 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(1901): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 a0001c0002t0001g0074 |
2 | 49 | 0.0408 | 1908 | c.107 others(1927): 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(1901): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0112 | 1 | 48 | 0.0208 | 1908 | c.107 others(1927): 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(1901): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0010 a0001c0002t0002g0105 |
2 | 49 | 0.0408 | 1908 | c.107 others(1927): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739406 | A | AACCTCCC others(1901): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 257 | 0.0039 | 1908 | c.-14 others(1925): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408425 | T | TAGATAGC others(1901): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 264 | 0.0038 | 1908 | c.*13 others(1919): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 406 | chr1 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248408572 | A | AGCATTTG others(1901): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0101 | 1 | 218 | 0.0046 | 1908 | c.*14 others(1919): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 553 | chr1 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1902): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 103 | 0.0097 | 1909 | c.300 others(1926): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1902): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0168 | 1 | 69 | 0.0145 | 1909 | c.*52 others(1920): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478063 | G | GGAGGGGA others(1902): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0007 | 1 | 88 | 0.0114 | 1909 | c.158 others(1926): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
GET4_chr7_871554_901436 | 890176 | C | CGGGGTCT others(1902): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 286 | 0.0035 | 1909 | c.467 others(1924): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890176 | C | CGGGGTCT others(1902): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0141 | 1 | 286 | 0.0035 | 1909 | c.467 others(1924): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890176 | C | CGGGGTCT others(1902): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 1 | 286 | 0.0035 | 1909 | c.467 others(1924): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1902): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0032 | 1 | 95 | 0.0105 | 1909 | c.*11 others(1930): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393244 | C | CTCTCTCT others(1902): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0115 | 1 | 48 | 0.0208 | 1909 | c.107 others(1928): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393286 | T | TCGGTTTC others(1902): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0039 | 1 | 132 | 0.0076 | 1909 | c.107 others(1928): 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(1902): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0038 | a0001c0001t0002g0124 a0001c0001t0038g0030 |
2 | 133 | 0.0150 | 1909 | c.107 others(1928): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |