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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYP4F11_chr19_15907377_15939529 | 15932201 | CGAGGAGA others(73): Show |
C | intron_variant | MODIFIER | HG02622.hp2 NA18948.hp1 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0124 | a0001c0002t0001g0229 a0003c0003t0124g0116 |
2 | 386 | 0.0052 | -80 | c.198 others(97): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932243 | GGGAGAGG others(73): Show |
G | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0149 | a0001c0002t0149g0289 | 1 | 386 | 0.0026 | -80 | c.198 others(97): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932469 | GGAATGAG others(73): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0008 | a0001c0008t0110 | a0001c0008t0110g0370 | 1 | 386 | 0.0026 | -80 | c.198 others(97): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932869 | GGAATGAG others(73): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0001 | a0002c0001t0173 | a0002c0001t0173g0376 | 1 | 386 | 0.0026 | -80 | c.198 others(97): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933009 | GGAATGAG others(73): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01952.hp2 HG01993.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0043a0001c0002t0051others(3): Show | a0001c0002t0001g0277 a0001c0002t0043g0232 a0001c0002t0051g0260 others(4): Show |
7 | 386 | 0.0181 | -80 | c.198 others(97): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933083 | AGGAGAAG others(73): Show |
A | intron_variant | MODIFIER | NA18948.hp1 NA18982.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0229 a0001c0002t0001g0304 |
2 | 386 | 0.0052 | -80 | c.198 others(97): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241742918 | GTGAGGGG others(73): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00639.hp1 others(71): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0002a0002c0009others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(25): Show | a0001c0001t0003g0235 a0001c0001t0004g0157 a0001c0001t0006g0236 others(68): Show |
74 | 412 | 0.1796 | -80 | c.490 others(95): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86205450 | CTCCCTCC others(73): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0107 others(4): Show |
7 | 166 | 0.0422 | -80 | c.488 others(99): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150250968 | CACACATC others(73): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 116 | 0.0086 | -80 | c.207 others(99): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
DDA1_chr19_17304563_17328298 | 17315257 | GTATATAC others(73): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 a0001c0001t0004g0204 |
3 | 388 | 0.0077 | -80 | c.137 others(95): Show |
DDA1 | ENSG00000130311.11 | transcript | ENST00000359866.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DDIAS_chr11_82896736_82939659 | 82937995 | CAATGGGA others(73): Show |
C | downstream_gene_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 368 | 0.0027 | -80 | c.*36 others(91): Show |
DDIAS | ENSG00000165490.13 | transcript | ENST00000533655.6 | protein_coding | 3337 | chr11 | TogoVar | |||||||
DGCR2_chr22_19031286_19127412 | 19084489 | GCCCCGTC others(73): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0039 | a0002c0002t0039g0110 | 1 | 344 | 0.0029 | -80 | c.202 others(97): Show |
DGCR2 | ENSG00000070413.21 | transcript | ENST00000263196.12 | protein_coding | 2/9 | chr22 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211816 | ACTCTCAT others(73): Show |
A | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 148 | 0.0068 | -80 | c.212 others(101): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14641228 | TTTTACAA others(73): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(69): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0043 others(69): Show |
72 | 148 | 0.4865 | -80 | c.113 others(101): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2228176 | GAGGGAGG others(73): Show |
G | intron_variant | MODIFIER | NA18943.hp1 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0023 |
2 | 50 | 0.0400 | -80 | c.805 others(97): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13453422 | ATGTGTAT others(73): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02615.hp1 others(7): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0027a0001c0001t0028a0001c0004t0003others(5): Show | a0001c0001t0027g0199 a0001c0001t0028g0198 a0001c0004t0003g0132 others(7): Show |
10 | 212 | 0.0472 | -80 | c.102 others(101): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1012566 | AACCAGCC others(73): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0034 | 1 | 40 | 0.0250 | -80 | c.73+ others(99): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1274396 | TATAAACC others(73): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01496.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0009a0001c0003t0001a0001c0011t0015others(5): Show | a0001c0002t0009g0039 a0001c0003t0001g0025 a0001c0011t0015g0002 others(5): Show |
8 | 40 | 0.2000 | -80 | c.106 others(99): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204841 | ATTATTTA others(73): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 296 | 0.0034 | -80 | c.-18 others(91): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1769 | chrX | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123851154 | CGTTAGCT others(73): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02965.hp2 others(5): Show |
a0010a0037a0056others(3): Show | a0010c0028a0010c0084a0037c0052others(4): Show | a0010c0028t0001a0010c0084t0002a0037c0052t0001others(4): Show | a0010c0028t0001g0067 a0010c0028t0001g0084 a0010c0084t0002g0104 others(5): Show |
8 | 170 | 0.0471 | -80 | c.629 others(97): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 35/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7765174 | TTCATGAG others(73): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01517.hp2 |
a0001 | a0001c0002a0001c0102 | a0001c0002t0001a0001c0102t0002 | a0001c0002t0001g0171 a0001c0102t0002g0032 |
2 | 316 | 0.0063 | -80 | c.333 others(96): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7765215 | GCATGAGA others(73): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0032 | a0001c0001t0001a0001c0032t0006 | a0001c0001t0001g0108 a0001c0032t0006g0192 |
2 | 316 | 0.0063 | -80 | c.333 others(96): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7765255 | TCATGAGA others(73): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG03098.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0184 a0001c0016t0001g0185 a0001c0016t0001g0186 others(1): Show |
4 | 316 | 0.0127 | -80 | c.333 others(95): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11711964 | ATATATTT others(73): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(25): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(17): Show | a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0082 others(25): Show |
28 | 178 | 0.1573 | -80 | c.555 others(99): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126938812 | TGAACACA others(73): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02257.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0002a0001c0004t0002a0001c0004t0010others(13): Show | a0001c0001t0002g0059 a0001c0004t0002g0122 a0001c0004t0010g0052 others(13): Show |
16 | 136 | 0.1177 | -80 | c.47- others(97): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127222775 | CTCACTTT others(73): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0006others(9): Show | a0001c0001t0002g0013 a0001c0002t0001g0097 a0001c0005t0006g0084 others(10): Show |
13 | 136 | 0.0956 | -80 | c.284 others(101): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 403892 | CTATATAT others(73): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0223 | 1 | 256 | 0.0039 | -80 | c.323 others(98): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 403914 | ATACATAT others(73): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01496.hp1 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0063a0002c0005others(12): Show | a0001c0002t0001a0001c0063t0002a0002c0005t0001others(12): Show | a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0063t0002g0163 others(13): Show |
16 | 256 | 0.0625 | -80 | c.323 others(98): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154061897 | TCCCTCTT others(73): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0008 | a0002c0008t0012 | a0002c0008t0012g0001 | 1 | 38 | 0.0263 | -80 | c.243 others(97): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP9_chr19_4670227_4728842 | 4672217 | ATATATAT others(73): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 others(1): Show |
4 | 314 | 0.0127 | -80 | c.*42 others(91): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3009 | chr19 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1349974 | TGGGAGGA others(73): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0017 | a0001c0017t0008 | a0001c0017t0008g0071 | 1 | 344 | 0.0029 | -80 | c.-98 others(89): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 557 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1351086 | AGGAGCGA others(73): Show |
A | upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 344 | 0.0029 | -80 | c.-21 others(91): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1669 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1351201 | GGGGCAGG others(73): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0017 | a0001c0017t0008 | a0001c0017t0008g0071 | 1 | 344 | 0.0029 | -80 | c.-22 others(91): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1784 | chr1 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1351281 | CGGGCAGG others(73): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp1 HG03516.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 3 | 344 | 0.0087 | -80 | c.-22 others(91): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1864 | chr1 | TogoVar | |||||||
DYNLT2B_chr3_196286219_196323240 | 196317396 | GTGTGTAA others(73): Show |
G | intron_variant | MODIFIER | HG03017.hp1 HG03704.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0139 |
3 | 330 | 0.0091 | -80 | c.113 others(95): Show |
DYNLT2B | ENSG00000213123.11 | transcript | ENST00000325318.10 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
DYSF_chr2_71448561_71691763 | 71571028 | ACACACAG others(73): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02615.hp2 HG02717.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0095 others(10): Show |
13 | 192 | 0.0677 | -80 | c.317 others(97): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 29/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71571028 | ACACACAG others(73): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02615.hp2 HG02717.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0082 others(10): Show |
13 | 208 | 0.0625 | -80 | c.322 others(97): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 29/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
E2F2_chr1_23501438_23536233 | 23504062 | TCTCCGCC others(73): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02630.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0009g0326 |
3 | 396 | 0.0076 | -80 | c.*57 others(91): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 2375 | chr1 | TogoVar | |||||||
EEF1D_chr8_143574728_143602415 | 143575773 | GGGGAAGG others(73): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0026 |
3 | 389 | 0.0077 | -80 | c.*39 others(91): Show |
EEF1D | ENSG00000104529.19 | transcript | ENST00000618139.4 | protein_coding | 3954 | chr8 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185187818 | GCTCATGC others(73): Show |
G | downstream_gene_variant | MODIFIER | HG02922.hp1 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0003 | a0001c0001t0001g0149 a0002c0004t0003g0306 |
2 | 348 | 0.0058 | -80 | c.*43 others(91): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 2805 | chr3 | TogoVar | |||||||
ELANE_chr19_847303_861243 | 848143 | CCCCACCG others(73): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 |
2 | 403 | 0.0050 | -80 | c.-41 others(91): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 4159 | chr19 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667256 | GTGATGGA others(73): Show |
G | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 418 | 0.0024 | -80 | c.*69 others(91): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3061 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43284664 | GCGCTACT others(73): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0005 | 1 | 188 | 0.0053 | -80 | c.144 others(101): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 12/16 | chr13 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212003128 | GGAAGGAA others(73): Show |
G | intron_variant | MODIFIER | HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0004t0021 | a0001c0001t0012g0001 a0001c0004t0021g0009 |
2 | 56 | 0.0357 | -80 | c.235 others(99): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675679 | GTGAGGAC others(73): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03017.hp1 HG03486.hp1 others(1): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0011 | a0001c0001t0001a0001c0002t0002a0012c0011t0002 | a0001c0001t0001g0133 a0001c0002t0002g0329 a0001c0002t0002g0340 others(1): Show |
4 | 378 | 0.0106 | -80 | c.305 others(97): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585032 | AAAAGAAA others(73): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0048 | 1 | 286 | 0.0035 | -80 | c.-15 others(97): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
EXD1_chr15_41177728_41235757 | 41179239 | GCTGCAGC others(73): Show |
G | downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0188 | 1 | 318 | 0.0031 | -80 | c.*46 others(91): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 3488 | chr15 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501145 | TATTATAT others(73): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA18998.hp2 NA19077.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0004a0001c0004t0004 | a0001c0001t0004g0042 a0001c0002t0004g0022 a0001c0004t0004g0210 others(1): Show |
4 | 272 | 0.0147 | -80 | c.238 others(99): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 601244 | ACGAATCC others(73): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0002g0166 a0001c0001t0002g0235 a0001c0001t0003g0217 others(2): Show |
5 | 272 | 0.0184 | -80 | c.743 others(97): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 602202 | GTGCGAAT others(73): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0197 a0001c0001t0008g0147 |
2 | 272 | 0.0074 | -80 | c.743 others(97): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar |