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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCBLD2_chr3_98790941_98906695 | 98837434 | A | ACCTCCCT others(224): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0166 | 1 | 330 | 0.0030 | 231 | c.571 others(250): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958127 | C | CACTACTA others(224): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0195 | 1 | 230 | 0.0044 | 231 | c.724 others(250): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50593816 | T | TCTCCCCT others(224): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 284 | 0.0035 | 231 | c.101 others(250): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522574 | A | ACCCAGCC others(224): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0164 | 1 | 358 | 0.0028 | 231 | c.236 others(250): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522574 | A | ACCCAGCC others(224): Show |
intron_variant | MODIFIER | HG04228.hp1 NA19060.hp1 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0002a0002c0011t0011 | a0002c0002t0002g0165 a0002c0011t0011g0137 |
2 | 358 | 0.0056 | 231 | c.236 others(250): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522574 | A | ACCCAGCC others(224): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0192 | 1 | 358 | 0.0028 | 231 | c.236 others(250): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522574 | A | ACCCAGCC others(224): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0048 | a0002c0048t0002 | a0002c0048t0002g0136 | 1 | 358 | 0.0028 | 231 | c.236 others(250): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522650 | G | GACCCAGC others(224): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0149 | 1 | 358 | 0.0028 | 231 | c.236 others(250): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522827 | G | GCCCAGCC others(224): Show |
intron_variant | MODIFIER | NA18949.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 a0001c0001t0003g0043 |
2 | 358 | 0.0056 | 231 | c.236 others(250): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084488 | G | GGTAGTAG others(224): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 298 | 0.0034 | 231 | c.126 others(248): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1180971 | A | ACACTTAC others(224): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01361.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0010others(3): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0023others(5): Show | a0001c0002t0002g0021 a0001c0002t0009g0039 a0001c0002t0023g0005 others(5): Show |
8 | 40 | 0.2000 | 231 | c.74- others(248): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 862107 | G | GGGAAGAG others(224): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0097 | 1 | 306 | 0.0033 | 231 | c.538 others(250): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78478100 | T | TCATCATC others(224): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02647.hp2 |
a0003a0038a0056 | a0003c0044a0038c0218a0056c0112 | a0003c0044t0001a0038c0218t0001a0056c0112t0001 | a0003c0044t0001g0106 a0038c0218t0001g0123 a0056c0112t0001g0072 |
3 | 252 | 0.0119 | 231 | c.799 others(248): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78478100 | T | TCATCATC others(224): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0122 | a0122c0198 | a0122c0198t0001 | a0122c0198t0001g0235 | 1 | 252 | 0.0040 | 231 | c.799 others(248): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25106532 | T | TTAAATAT others(224): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | 336 | 0.0060 | 231 | c.*20 others(242): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 1756 | chr12 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 127362839 | A | ACATGCAC others(224): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0053 | a0002c0053t0002 | a0002c0053t0002g0118 | 1 | 136 | 0.0074 | 231 | c.343 others(248): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 33/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400509 | C | CCACCTCC others(224): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0134 | 1 | 256 | 0.0039 | 231 | c.323 others(250): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400977 | T | TCACCACC others(224): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0018 | a0018c0085 | a0018c0085t0006 | a0018c0085t0006g0029 | 1 | 256 | 0.0039 | 231 | c.323 others(250): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556285 | A | AGTGTATA others(224): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG03516.hp1 |
a0001a0005 | a0001c0001a0005c0021 | a0001c0001t0008a0005c0021t0008 | a0001c0001t0008g0051 a0001c0001t0008g0052 a0005c0021t0008g0050 |
3 | 316 | 0.0095 | 231 | c.355 others(250): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716102 | G | GTTGGTGT others(224): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0128 | 1 | 170 | 0.0059 | 231 | c.86- others(244): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137781182 | G | GGACGTGT others(224): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0131 |
3 | 170 | 0.0177 | 231 | c.227 others(250): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137781182 | G | GGATGTGT others(224): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0169 | 1 | 170 | 0.0059 | 231 | c.227 others(250): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21180071 | T | TATACATA others(224): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0234 | 1 | 312 | 0.0032 | 231 | c.-38 others(242): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3175 | chr1 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108586574 | C | CCCCCTTT others(224): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0029 | a0029c0025 | a0029c0025t0045 | a0029c0025t0045g0112 | 1 | 314 | 0.0032 | 231 | c.119 others(248): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108586574 | C | CCCCCTTT others(224): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0109 | 1 | 314 | 0.0032 | 231 | c.119 others(248): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(224): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0171 | 1 | 218 | 0.0046 | 231 | c.-23 others(250): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98198909 | C | CCTGCTCC others(224): Show |
intron_variant | MODIFIER | HG01981.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0042 | a0001c0001t0022g0206 a0001c0001t0042g0172 |
2 | 218 | 0.0092 | 231 | c.-23 others(250): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177096932 | T | TTCCTCCT others(224): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0212 | 1 | 372 | 0.0027 | 231 | c.215 others(248): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240208028 | G | GGGCATAC others(224): Show |
disruptive_inframe_insertion | MODERATE | HG01168.hp2 | a0077 | a0077c0060 | a0077c0060t0001 | a0077c0060t0001g0140 | 1 | 174 | 0.0058 | 231 | c.323 others(240): Show |
p.Pro others(246): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3458/6429 | 3231/5169 | 1077/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
FOXN3_chr14_89151177_89422233 | 89361699 | A | ACCACCAC others(224): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 230 | 0.0044 | 231 | c.544 others(250): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FRAS1_chr4_78052323_78549269 | 78322566 | T | TTCTTTTT others(224): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03098.hp2 |
a0008a0023 | a0008c0006a0023c0021 | a0008c0006t0004a0023c0021t0015 | a0008c0006t0004g0171 a0023c0021t0015g0105 |
2 | 178 | 0.0112 | 231 | c.213 others(250): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 18/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46145735 | T | TGCCCTCC others(224): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0186 |
3 | 230 | 0.0130 | 231 | c.109 others(246): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46145757 | T | TTCCCCCT others(224): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02258.hp1 HG02451.hp1 others(3): Show |
a0001a0003 | a0001c0003a0001c0031a0003c0007others(1): Show | a0001c0003t0002a0001c0031t0001a0003c0007t0002others(1): Show | a0001c0003t0002g0081 a0001c0031t0001g0184 a0003c0007t0002g0078 others(3): Show |
6 | 230 | 0.0261 | 231 | c.109 others(246): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGAC others(224): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0015 |
2 | 364 | 0.0055 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0065 a0001c0001t0001g0112 a0001c0001t0001g0130 others(1): Show |
4 | 364 | 0.0110 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 |
2 | 364 | 0.0055 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0014 |
2 | 364 | 0.0055 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 HG02486.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(3): Show |
8 | 364 | 0.0220 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0106 a0001c0002t0001g0105 |
2 | 364 | 0.0055 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG02080.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(4): Show |
7 | 364 | 0.0192 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(224): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 364 | 0.0028 | 231 | c.-20 others(240): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar |