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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC52A1_chr17_5027602_5040426 | 5036829 | T | TTTTTATT others(2605): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0012 | 1 | 424 | 0.0024 | 2612 | c.-20 others(2623): Show |
SLC52A1 | ENSG00000132517.15 | transcript | ENST00000254853.10 | protein_coding | 1404 | chr17 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2606): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2613 | c.-17 others(2624): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2606): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0217 | 1 | 294 | 0.0034 | 2613 | c.153 others(2632): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2606): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 188 | 0.0053 | 2613 | c.147 others(2630): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2606): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 322 | 0.0031 | 2613 | c.178 others(2630): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1302498 | A | GTTTCTAA others(2606): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0035 | 1 | 350 | 0.0029 | 2613 | c.440 others(2630): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | chr20 | TogoVar | |||||||
STARD9_chr15_42570606_42725998 | 42624481 | A | ACCACCAA others(2606): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0029 | a0029c0050 | a0029c0050t0004 | a0029c0050t0004g0076 | 1 | 210 | 0.0048 | 2613 | c.235 others(2632): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2607): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 316 | 0.0032 | 2614 | c.44- others(2627): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGAGGGG others(2607): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0195 | 1 | 308 | 0.0033 | 2614 | c.157 others(2631): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2607): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0008 | a0008c0137 | a0008c0137t0001 | a0008c0137t0001g0130 | 1 | 282 | 0.0036 | 2614 | c.299 others(2629): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SLC52A1_chr17_5027602_5040426 | 5036829 | T | TTTTTATT others(2607): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0012 | 1 | 424 | 0.0024 | 2614 | c.-20 others(2625): Show |
SLC52A1 | ENSG00000132517.15 | transcript | ENST00000254853.10 | protein_coding | 1404 | chr17 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714756 | T | TACCACTG others(2608): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0085 | 1 | 344 | 0.0029 | 2615 | c.127 others(2632): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2608): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0051 | 1 | 364 | 0.0028 | 2615 | c.445 others(2630): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2608): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0124 | 1 | 364 | 0.0028 | 2615 | c.445 others(2630): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2608): Show |
intron_variant | MODIFIER | HG02523.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0070 | a0001c0001t0033g0032 a0001c0001t0070g0032 |
2 | 388 | 0.0052 | 2615 | c.114 others(2634): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2608): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02165.hp1 HG03491.hp1 others(21): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0020a0001c0001t0021a0001c0001t0031others(17): Show | a0001c0001t0020g0011 a0001c0001t0021g0004 a0001c0001t0031g0004 others(17): Show |
24 | 388 | 0.0619 | 2615 | c.114 others(2634): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43780661 | T | TTCCAGGT others(2608): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 274 | 0.0037 | 2615 | c.119 others(2634): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTCATTC others(2609): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0024 | a0024c0068 | a0024c0068t0001 | a0024c0068t0001g0062 | 1 | 300 | 0.0033 | 2616 | c.654 others(2635): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 443317 | T | TAACAATG others(2609): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 432 | 0.0023 | 2616 | c.*13 others(2627): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 676 | chr12 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2609): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0116 | 1 | 388 | 0.0026 | 2616 | c.114 others(2635): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2609): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0036 | a0001c0001t0034g0031 a0001c0001t0036g0031 |
2 | 388 | 0.0052 | 2616 | c.114 others(2635): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2609): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0127 | 1 | 388 | 0.0026 | 2616 | c.114 others(2635): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2609): Show |
intron_variant | MODIFIER | NA18989.hp1 NA18997.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0066 | a0001c0001t0032g0033 a0001c0001t0066g0115 |
3 | 388 | 0.0077 | 2616 | c.114 others(2635): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2609): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0021 | a0021c0055 | a0021c0055t0003 | a0021c0055t0003g0112 | 1 | 298 | 0.0034 | 2616 | c.126 others(2633): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(2609): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 290 | 0.0035 | 2616 | c.129 others(2635): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(2609): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 334 | 0.0030 | 2616 | c.-28 others(2635): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2610): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0126 | 1 | 388 | 0.0026 | 2617 | c.114 others(2636): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38680395 | C | CAAGAAGA others(2610): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 328 | 0.0031 | 2617 | c.346 others(2632): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2610): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0256 a0001c0001t0008g0258 |
2 | 368 | 0.0054 | 2617 | c.353 others(2634): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132896030 | C | CGGTGAGA others(2611): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0244 | 1 | 246 | 0.0041 | 2618 | c.321 others(2637): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132896030 | C | CGGTGAGA others(2611): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0243 | 1 | 246 | 0.0041 | 2618 | c.321 others(2637): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2611): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0122 | 1 | 388 | 0.0026 | 2618 | c.114 others(2637): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2611): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0261 | 1 | 388 | 0.0026 | 2618 | c.114 others(2637): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2611): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0165 | a0001c0001t0165g0259 | 1 | 388 | 0.0026 | 2618 | c.114 others(2637): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2611): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0099 | a0099c0075 | a0099c0075t0001 | a0099c0075t0001g0114 | 1 | 292 | 0.0034 | 2618 | c.218 others(2633): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 166237 | G | GGCTCACA others(2611): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0006 | a0006c0020 | a0006c0020t0018 | a0006c0020t0018g0198 | 1 | 210 | 0.0048 | 2618 | c.347 others(2637): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2611): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 322 | 0.0031 | 2618 | c.178 others(2635): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2612): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02970.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0116a0001c0001t0117others(2): Show | a0001c0001t0042g0252 a0001c0001t0116g0023 a0001c0001t0117g0023 others(2): Show |
5 | 388 | 0.0129 | 2619 | c.114 others(2638): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68475190 | T | TTTTTTGT others(2612): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0044 | 1 | 326 | 0.0031 | 2619 | c.-33 others(2630): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 3218 | chr10 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2612): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0111 | 1 | 322 | 0.0031 | 2619 | c.178 others(2636): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431795 | A | ATAGGATG others(2612): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0267 | 1 | 376 | 0.0027 | 2619 | c.101 others(2638): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431967 | T | TAGGATGG others(2612): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 2 | 376 | 0.0053 | 2619 | c.101 others(2636): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC25A16_chr10_68472998_68532523 | 68475190 | T | TTTTTTGT others(2612): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0011 | 1 | 312 | 0.0032 | 2619 | c.*82 others(2630): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2807 | chr10 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2612): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 433 | 0.0023 | 2619 | c.-16 others(2630): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2612): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 433 | 0.0023 | 2619 | c.-16 others(2630): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2613): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0014 | 1 | 388 | 0.0026 | 2620 | c.*31 others(2631): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2613): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01109.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0035 a0002c0002t0003g0168 a0002c0002t0003g0184 others(4): Show |
7 | 388 | 0.0180 | 2620 | c.*31 others(2631): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2613): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0166 | a0001c0001t0166g0103 | 1 | 388 | 0.0026 | 2620 | c.114 others(2639): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2613): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0047 | a0001c0001t0003g0026 a0001c0001t0047g0026 |
2 | 388 | 0.0052 | 2620 | c.114 others(2639): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2613): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 388 | 0.0026 | 2620 | c.114 others(2639): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |