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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDC16_chr13_114229897_114277723 | 114231306 | A | AGGTGGGG others(791): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 238 | 0.0042 | 798 | c.-37 others(809): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3590 | chr13 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(791): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0029 | 1 | 38 | 0.0263 | 798 | c.248 others(815): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(791): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0022 | 1 | 38 | 0.0263 | 798 | c.248 others(815): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(791): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18942.hp2 NA18969.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0007 | a0002c0003t0003g0012 a0002c0003t0003g0116 a0002c0003t0007g0126 |
3 | 40 | 0.0750 | 798 | c.248 others(815): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(791): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18953.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 a0001c0002t0002g0028 |
2 | 151 | 0.0132 | 798 | c.223 others(819): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(791): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01346.hp1 HG01884.hp1 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0067 a0001c0001t0002g0091 a0001c0001t0002g0145 others(12): Show |
15 | 18 | 0.8333 | 798 | c.342 others(817): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647539 | A | AGTGGAGA others(791): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 355 | 0.0028 | 798 | c.253 others(813): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648362 | A | ACACCCAG others(791): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0148 | 1 | 276 | 0.0036 | 798 | c.252 others(813): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(791): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0105 | 1 | 2 | 0.5000 | 798 | c.138 others(817): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(791): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19084.hp1 NA19089.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0005 | a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0006t0005g0104 |
3 | 4 | 0.7500 | 798 | c.138 others(817): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(791): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02155.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0141 a0001c0001t0001g0163 others(1): Show |
10 | 11 | 0.9091 | 798 | c.138 others(817): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(791): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0247 | 1 | 2 | 0.5000 | 798 | c.138 others(817): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(791): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02056.hp2 HG02071.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0146 a0001c0003t0003g0241 a0001c0003t0003g0246 others(21): Show |
24 | 25 | 0.9600 | 798 | c.138 others(817): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(791): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0244 | 1 | 2 | 0.5000 | 798 | c.138 others(817): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(791): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0006 | a0005c0006t0018 | a0005c0006t0018g0206 | 1 | 93 | 0.0108 | 798 | c.*65 others(809): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(791): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 NA19084.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0018 | a0001c0001t0001g0025 a0005c0006t0018g0207 |
2 | 94 | 0.0213 | 798 | c.*65 others(809): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(791): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG02155.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0037 others(6): Show |
9 | 101 | 0.0891 | 798 | c.*65 others(809): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(791): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0217 | 1 | 93 | 0.0108 | 798 | c.*65 others(809): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(791): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG02056.hp1 HG02071.hp1 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0029 | a0002c0002t0003g0013 a0002c0002t0003g0027 a0002c0002t0003g0028 others(17): Show |
21 | 113 | 0.1858 | 798 | c.*65 others(809): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(791): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0141 | 1 | 93 | 0.0108 | 798 | c.*65 others(809): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(791): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0167 | 1 | 2 | 0.5000 | 798 | c.162 others(819): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298296 | C | CTCTCCTA others(791): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01081.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0048 others(18): Show |
21 | 96 | 0.2188 | 798 | c.811 others(815): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298296 | C | CTCTCCTA others(791): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0044 | 1 | 76 | 0.0132 | 798 | c.811 others(815): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298296 | C | CTCTCCTA others(791): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 76 | 0.0132 | 798 | c.811 others(815): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298296 | C | CTCTCCTA others(791): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 76 | 0.0132 | 798 | c.811 others(815): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298419 | C | CCATGACC others(791): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0145 | 1 | 131 | 0.0076 | 798 | c.811 others(815): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1959775 | C | CCCACCTT others(791): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 223 | 0.0045 | 798 | c.-26 others(817): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88712912 | C | CCCCGAGA others(791): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp2 NA18522.hp2 |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0014 | 3 | 411 | 0.0073 | 798 | c.737 others(811): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(791): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 102 | 0.0098 | 798 | c.*19 others(809): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(791): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 118 | 0.0085 | 798 | c.*19 others(809): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168317504 | C | CTGAGGTC others(791): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0116 | 1 | 472 | 0.0021 | 798 | c.246 others(815): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251145 | C | CCCCACAC others(791): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0032 | 1 | 101 | 0.0099 | 798 | c.207 others(817): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 556272 | A | ACCCCTCC others(791): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0087 | 1 | 60 | 0.0167 | 798 | c.86- others(815): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1206322 | T | TGGGGTAG others(791): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03516.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0001a0001c0003t0024 | a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0024g0003 |
3 | 21 | 0.1429 | 798 | c.74- others(815): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1206322 | T | TGGGGTAG others(791): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG02074.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0010others(4): Show | a0001c0002t0009a0001c0003t0001a0001c0010t0025others(6): Show | a0001c0002t0009g0039 a0001c0003t0001g0025 a0001c0010t0025g0012 others(7): Show |
10 | 28 | 0.3571 | 798 | c.74- others(815): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55446361 | A | ACTCCTCA others(791): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03834.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0294 |
3 | 332 | 0.0090 | 798 | c.783 others(815): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438438 | A | AGGAGGAG others(791): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0079 | a0079c0194 | a0079c0194t0007 | a0079c0194t0007g0108 | 1 | 241 | 0.0041 | 798 | c.118 others(817): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400222 | A | ACCACCTC others(791): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0196 | 1 | 221 | 0.0045 | 798 | c.323 others(815): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400222 | A | ATCACCTC others(791): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0135 | 1 | 221 | 0.0045 | 798 | c.323 others(815): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | |||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(791): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0030others(1): Show | a0001c0001t0002g0282 a0001c0001t0005g0047 a0001c0001t0005g0119 others(4): Show |
7 | 379 | 0.0185 | 798 | c.332 others(813): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(791): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0118 a0001c0001t0005g0121 |
2 | 374 | 0.0053 | 798 | c.332 others(813): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(791): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 373 | 0.0027 | 798 | c.332 others(813): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(791): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02027.hp2 HG02040.hp2 others(3): Show |
a0003a0016 | a0003c0003a0016c0014 | a0003c0003t0004a0016c0014t0006 | a0003c0003t0004g0116 a0003c0003t0004g0221 a0003c0003t0004g0222 others(3): Show |
6 | 378 | 0.0159 | 798 | c.332 others(813): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(791): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0122 | 1 | 373 | 0.0027 | 798 | c.332 others(813): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(791): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 373 | 0.0027 | 798 | c.332 others(813): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3476128 | T | TCATGATG others(791): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0219 | 1 | 373 | 0.0027 | 798 | c.332 others(813): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716447 | G | GGTGGTGT others(791): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0153 | 1 | 166 | 0.0060 | 798 | c.86- others(811): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927978 | G | GTGGTGGT others(791): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0007 | a0001c0007t0018 | a0001c0007t0018g0240 | 1 | 283 | 0.0035 | 798 | c.190 others(817): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928176 | G | GTGGTGGT others(791): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0034 | 1 | 264 | 0.0038 | 798 | c.190 others(817): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(791): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0160 |
2 | 271 | 0.0074 | 798 | c.-51 others(809): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar |