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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VAT1_chr17_43009607_43027385 | 43024257 | A | AATCTCGG others(670): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 NA20129.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0075 a0001c0004t0001g0053 |
2 | 165 | 0.0121 | 677 | c.-19 others(688): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 1873 | chr17 | TogoVar | |||||||
VAT1_chr17_43009607_43027385 | 43024257 | A | AATCTCGG others(670): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0106 others(28): Show |
47 | 210 | 0.2238 | 677 | c.-19 others(688): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 1873 | chr17 | TogoVar | |||||||
VAT1_chr17_43009607_43027385 | 43024257 | A | AATCTCGG others(670): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02622.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0028 others(3): Show |
6 | 169 | 0.0355 | 677 | c.-19 others(688): Show |
VAT1 | ENSG00000108828.16 | transcript | ENST00000355653.8 | protein_coding | 1873 | chr17 | TogoVar | |||||||
VCX3A_chrX_6528618_6540118 | 6533404 | T | TCCTCCTC others(670): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 62 | 0.0161 | 677 | c.*34 others(686): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 213 | chrX | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(670): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 100 | 0.0100 | 677 | c.-10 others(694): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(670): Show |
intron_variant | MODIFIER | HG01361.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0049 | a0001c0001t0014g0156 a0001c0001t0049g0155 |
2 | 45 | 0.0444 | 677 | c.-1- others(694): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6318734 | T | TGAGATCG others(671): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp1 HG02109.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0260 a0001c0001t0001g0263 others(1): Show |
4 | 206 | 0.0194 | 678 | c.94- others(693): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714421 | T | TAACCACT others(671): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0148 | 1 | 317 | 0.0032 | 678 | c.127 others(695): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 906607 | G | GGAGAAGA others(671): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 7 | 0.1429 | 678 | c.389 others(695): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(671): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0058 | 1 | 7 | 0.1429 | 678 | c.775 others(693): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(671): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0035 | 1 | 7 | 0.1429 | 678 | c.775 others(693): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(671): Show |
intron_variant | MODIFIER | NA18980.hp1 NA19005.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0103 |
3 | 139 | 0.0216 | 678 | c.248 others(693): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410916 | G | TGGGGTCT others(671): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 315 | 0.0032 | 678 | c.-19 others(689): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1769 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(671): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02056.hp2 HG02074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 a0001c0001t0002g0036 |
5 | 155 | 0.0323 | 678 | c.63+ others(691): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(671): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0104 | 1 | 94 | 0.0106 | 678 | c.907 others(693): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181959 | A | ACACATAC others(671): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0026 |
3 | 455 | 0.0066 | 678 | c.193 others(695): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802779 | A | AGGTCAAG others(671): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0021 | a0021c0036 | a0021c0036t0002 | a0021c0036t0002g0027 | 1 | 390 | 0.0026 | 678 | c.666 others(691): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803282 | T | TGGGGCCC others(671): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 | 1 | 147 | 0.0068 | 678 | c.666 others(693): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGAGA others(671): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0101 | 1 | 211 | 0.0047 | 678 | c.303 others(697): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CD2AP_chr6_47472789_47632263 | 47505616 | G | GGGGGGCC others(671): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0129 | 1 | 238 | 0.0042 | 678 | c.165 others(695): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505616 | G | GGGGGGCC others(671): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0298 | 1 | 238 | 0.0042 | 678 | c.165 others(695): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505616 | G | GGGGGGCC others(671): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0133 a0001c0001t0022g0104 |
2 | 239 | 0.0084 | 678 | c.165 others(695): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505616 | G | GGGGGGCC others(671): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0207 | 1 | 238 | 0.0042 | 678 | c.165 others(695): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924810 | G | GCCCCCCA others(671): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0190 | 1 | 324 | 0.0031 | 678 | c.489 others(693): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251096 | A | ACACCCCC others(671): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 107 | 0.0093 | 678 | c.207 others(697): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 665147 | G | GTCCTGGC others(671): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 216 | 0.0046 | 678 | c.150 others(697): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 665147 | G | GTCCTGGC others(671): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0005 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(82): Show |
87 | 302 | 0.2881 | 678 | c.150 others(697): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
DYSF_chr2_71448561_71691763 | 71618390 | T | TGTGTGTG others(671): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0025 | a0001c0001t0001a0001c0003t0001a0001c0025t0001 | a0001c0001t0001g0088 a0001c0003t0001g0111 a0001c0003t0001g0113 others(4): Show |
7 | 124 | 0.0565 | 678 | c.441 others(697): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618390 | T | TGTGTGTG others(671): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112 | 1 | 118 | 0.0085 | 678 | c.441 others(697): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618390 | T | TGTGTGTG others(671): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01074.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0025 | a0001c0001t0001a0001c0003t0001a0001c0025t0001 | a0001c0001t0001g0106 a0001c0003t0001g0006 a0001c0003t0001g0008 others(5): Show |
8 | 131 | 0.0611 | 678 | c.446 others(697): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618390 | T | TGTGTGTG others(671): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 124 | 0.0081 | 678 | c.446 others(697): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928218 | G | GTGGTGGT others(671): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0246 a0001c0003t0005g0247 |
2 | 146 | 0.0137 | 678 | c.190 others(697): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FBXO34_chr14_55266421_55358611 | 55331759 | A | ATACCACC others(671): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0203 a0001c0001t0005g0205 |
2 | 319 | 0.0063 | 678 | c.-10 others(697): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FBXO34_chr14_55266421_55358611 | 55331759 | A | ATACCACC others(671): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0204 | 1 | 318 | 0.0031 | 678 | c.-10 others(697): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27999113 | A | AACATATA others(671): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0011 | 1 | 24 | 0.0417 | 678 | c.*49 others(689): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4160 | chr13 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(671): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0025 | a0025c0042 | a0025c0042t0001 | a0025c0042t0001g0004 | 1 | 126 | 0.0079 | 678 | c.193 others(697): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586402 | G | GGGGGGGG others(671): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0012 | a0012c0014 | a0012c0014t0005 | a0012c0014t0005g0234 | 1 | 293 | 0.0034 | 678 | c.157 others(695): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GET4_chr7_871554_901436 | 889979 | G | GGGGCCTG others(671): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0024 | 1 | 325 | 0.0031 | 678 | c.467 others(693): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11637073 | G | GGGGCAGG others(671): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00733.hp2 others(37): Show |
a0004a0005a0006others(7): Show | a0004c0004a0004c0026a0004c0082others(11): Show | a0004c0004t0002a0004c0004t0004a0004c0004t0011others(17): Show | a0004c0004t0002g0183 a0004c0004t0002g0248 a0004c0004t0002g0255 others(37): Show |
40 | 265 | 0.1509 | 678 | c.534 others(695): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11637073 | G | GGGGCAGG others(671): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18989.hp2 |
a0003a0047 | a0003c0003a0047c0081 | a0003c0003t0001a0047c0081t0002 | a0003c0003t0001g0155 a0047c0081t0002g0208 |
2 | 227 | 0.0088 | 678 | c.534 others(695): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11637073 | G | GGGGCAGG others(671): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0227 | 1 | 226 | 0.0044 | 678 | c.534 others(695): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 309871 | T | TGAAATGA others(671): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 120 | 0.0083 | 678 | c.112 others(697): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
HCN2_chr19_584881_622159 | 602222 | C | CCCTCCTC others(671): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18522.hp1 |
a0001 | a0001c0003a0001c0020 | a0001c0003t0004a0001c0020t0008 | a0001c0003t0004g0012 a0001c0020t0008g0013 |
2 | 393 | 0.0051 | 678 | c.633 others(695): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(671): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0014 | a0004c0014t0028 | a0004c0014t0028g0152 | 1 | 56 | 0.0179 | 678 | c.*11 others(699): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(671): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0108 | 1 | 11 | 0.0909 | 678 | c.*52 others(689): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(671): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0001c0020others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0092 a0001c0001t0001g0113 a0001c0001t0001g0117 others(74): Show |
77 | 80 | 0.9625 | 678 | c.212 others(697): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(671): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18980.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 a0001c0001t0004g0036 a0001c0001t0004g0042 |
3 | 6 | 0.5000 | 678 | c.212 others(697): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 858987 | G | GAGTGGTG others(671): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 243 | 0.0041 | 678 | c.153 others(697): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(671): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0271 | 1 | 40 | 0.0250 | 678 | c.197 others(697): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGGAGAGG others(671): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0020 | 1 | 12 | 0.0833 | 678 | c.525 others(695): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar |