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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPIFB1_chr20_33278214_33314871 | 33295878 | G | GAAGGGAA others(34): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0253 | 1 | 386 | 0.0026 | 41 | c.598 others(58): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424654 | T | TCCTCCTC others(34): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0132 | 1 | 292 | 0.0034 | 41 | c.121 others(60): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424657 | T | TCCTCCTC others(34): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 293 | 0.0034 | 41 | c.121 others(60): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424669 | T | TCCTCCTC others(34): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0191 | 1 | 312 | 0.0032 | 41 | c.121 others(60): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424672 | T | TCCTCCTC others(34): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18906.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 a0003c0003t0001g0042 |
2 | 323 | 0.0062 | 41 | c.121 others(60): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67917131 | C | CTTTTTTT others(34): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0206 | 1 | 99 | 0.0101 | 41 | c.530 others(60): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRCC3_chrX_155066508_155128077 | 155075291 | C | CCCCTGAA others(34): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 129 | 0.0078 | 41 | c.195 others(58): Show |
BRCC3 | ENSG00000185515.16 | transcript | ENST00000330045.12 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRCC3_chrX_155066508_155128077 | 155075291 | C | CCCCTGAA others(34): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 129 | 0.0078 | 41 | c.195 others(58): Show |
BRCC3 | ENSG00000185515.16 | transcript | ENST00000330045.12 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119249853 | A | AGGAAGGA others(34): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0188 | 1 | 226 | 0.0044 | 41 | c.219 others(56): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119249853 | A | AGGAAGGA others(34): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0181 | 1 | 226 | 0.0044 | 41 | c.219 others(56): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570772 | G | GGGGGTGG others(34): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 147 | 0.0068 | 41 | c.-18 others(52): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1823 | chr19 | TogoVar | |||||||
BTBD2_chr19_1980448_2020714 | 2014977 | A | AGGGAACT others(34): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0133 | 1 | 360 | 0.0028 | 41 | c.407 others(56): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23349764 | T | TAATTAAT others(34): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 324 | 0.0031 | 41 | c.-49 others(52): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 4968 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126576665 | A | AACCTGGG others(34): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0197 | 1 | 211 | 0.0047 | 41 | c.314 others(60): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
C11orf68_chr11_65911810_65924062 | 65918413 | G | GGGTTGCT others(34): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 404 | 0.0025 | 41 | c.123 others(56): Show |
C11orf68 | ENSG00000175573.7 | transcript | ENST00000438576.3 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64308940 | G | GAAAGAAA others(34): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0162 | 1 | 69 | 0.0145 | 41 | c.968 others(58): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
C17orf107_chr17_4894536_4907934 | 4907704 | T | TCATGTAT others(34): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 440 | 0.0023 | 41 | c.*71 others(52): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 4771 | chr17 | TogoVar | |||||||
C17orf78_chr17_37370985_37397708 | 37390304 | T | TTATATAT others(34): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 282 | 0.0035 | 41 | c.750 others(56): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37390304 | T | TTTTATAT others(34): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG02723.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0188 others(2): Show |
5 | 286 | 0.0175 | 41 | c.750 others(56): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C1QTNF12_chr1_1237453_1251722 | 1240648 | T | TCATTCAC others(34): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 82 | 0.0122 | 41 | c.*18 others(52): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 1804 | chr1 | TogoVar | |||||||
C1QTNF12_chr1_1237453_1251722 | 1240648 | T | TCATTCAC others(34): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 82 | 0.0122 | 41 | c.*18 others(52): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 1804 | chr1 | TogoVar | |||||||
C1orf100_chr1_244347635_244394663 | 244373332 | T | TTTATATA others(34): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 133 | 0.0075 | 41 | c.57- others(56): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf198_chr1_230832119_230873521 | 230846387 | G | GTCCTTTA others(34): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0155 | 1 | 426 | 0.0023 | 41 | c.385 others(58): Show |
C1orf198 | ENSG00000119280.17 | transcript | ENST00000366663.10 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
C20orf204_chr20_64031182_64044001 | 64042812 | G | GGGGGTCG others(34): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00738.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
39 | 329 | 0.1185 | 41 | c.*40 others(52): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3812 | chr20 | TogoVar | |||||||
C20orf204_chr20_64031182_64044001 | 64042833 | G | GGGGGTCG others(34): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 12 | 389 | 0.0308 | 41 | c.*40 others(52): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3833 | chr20 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46298434 | C | CTTTTTTT others(34): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 171 | 0.0058 | 41 | c.*35 others(52): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 2695 | chr21 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46302707 | T | TCCGTCTG others(34): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03540.hp1 NA18954.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0022a0003c0006t0002others(1): Show | a0001c0001t0002g0235 a0001c0001t0002g0261 a0001c0001t0022g0193 others(2): Show |
5 | 136 | 0.0368 | 41 | c.722 others(56): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32146152 | A | ATATTATT others(34): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018 | 1 | 371 | 0.0027 | 41 | c.*33 others(52): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2853 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(34): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0045 | 1 | 114 | 0.0088 | 41 | c.*16 others(52): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C2CD5_chr12_22443583_22549542 | 22505927 | T | TGGATTCC others(34): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 others(2): Show |
5 | 198 | 0.0253 | 41 | c.114 others(58): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 10/26 | chr12 | TogoVar | |||||||
C2orf16_chr2_27532386_27587722 | 27557917 | A | ATCCCCCC others(34): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00673.hp2 others(49): Show |
a0002a0010a0016others(4): Show | a0002c0002a0010c0009a0016c0019others(4): Show | a0002c0002t0001a0010c0009t0001a0016c0019t0001others(4): Show | a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 others(45): Show |
52 | 280 | 0.1857 | 41 | c.145 others(58): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
C2orf69_chr2_199906293_199933273 | 199913481 | A | AATATATA others(34): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0246 a0001c0001t0002g0247 others(3): Show |
9 | 84 | 0.1071 | 41 | c.333 others(58): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6689374 | T | TCTGTCTC others(34): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0151 | 1 | 341 | 0.0029 | 41 | c.348 others(60): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | |||||||
C4BPB_chr1_207083860_207104993 | 207084933 | C | CAAACCGC others(34): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 386 | 0.0026 | 41 | c.-40 others(52): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 3926 | chr1 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004602 | G | GTGGTGAT others(34): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(158): Show |
a0001a0002a0003others(66): Show | a0001c0001a0001c0106a0002c0002others(72): Show | a0001c0001t0001a0001c0106t0001a0002c0002t0001others(72): Show | a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0088 others(153): Show |
161 | 169 | 0.9527 | 41 | c.963 others(58): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1099090 | G | GCGACCTC others(34): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | 60 | 0.0333 | 41 | c.129 others(60): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1099090 | G | GCGGCCTC others(34): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(197): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(197): Show |
200 | 258 | 0.7752 | 41 | c.129 others(60): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1099253 | G | GCCGGCCT others(34): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0095 | 1 | 324 | 0.0031 | 41 | c.129 others(60): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48051821 | T | TCTCTTCT others(34): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0034 | 1 | 303 | 0.0033 | 41 | c.606 others(56): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
C8G_chr9_136940243_136951975 | 136951025 | G | GTGGGAGG others(34): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01168.hp2 HG01175.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
11 | 22 | 0.5000 | 41 | c.*42 others(52): Show |
C8G | ENSG00000176919.13 | transcript | ENST00000371634.7 | protein_coding | 4051 | chr9 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51874964 | T | TCTTTTCT others(34): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 89 | 0.0112 | 41 | c.279 others(60): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAAAGAA others(34): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0243 | 1 | 107 | 0.0093 | 41 | c.*29 others(52): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49346100 | G | GATATATA others(34): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 a0001c0001t0006g0104 a0001c0001t0006g0277 others(2): Show |
5 | 167 | 0.0299 | 41 | c.565 others(58): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
CACFD1_chr9_133454978_133475848 | 133460471 | C | CGGCGGGG others(34): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 1 | 189 | 0.0053 | 41 | c.121 others(56): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133460471 | C | CGGCGGGG others(34): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 | 1 | 189 | 0.0053 | 41 | c.121 others(56): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13413881 | G | GAAAAGAA others(34): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0145 | 1 | 199 | 0.0050 | 41 | c.539 others(60): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539206 | G | GAGGAGGG others(34): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0046 | 1 | 38 | 0.0263 | 41 | c.139 others(62): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539214 | C | CTTCATAA others(34): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0005a0001c0001t0021a0001c0003t0001others(5): Show | a0001c0001t0005g0043 a0001c0001t0021g0060 a0001c0003t0001g0009 others(5): Show |
8 | 99 | 0.0808 | 41 | c.139 others(62): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539255 | C | CTTCATAA others(34): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0029 | a0001c0029t0019 | a0001c0029t0019g0065 | 1 | 82 | 0.0122 | 41 | c.139 others(62): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539389 | T | TGCAGGCA others(34): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0016 | a0003c0016t0011 | a0003c0016t0011g0082 | 1 | 104 | 0.0096 | 41 | c.139 others(62): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |