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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPB2_chr13_46048186_46110033 | 46073597 | T | TCAATGTA others(313): Show |
intron_variant | MODIFIER | NA19058.hp1 NA19063.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0164 a0002c0002t0002g0202 |
2 | 330 | 0.0061 | 320 | c.591 others(335): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587951 | C | CGTGTCAG others(313): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0304 | 1 | 348 | 0.0029 | 320 | c.928 others(335): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89597985 | C | CGTCCATC others(313): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03098.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0064 a0001c0007t0006g0071 a0001c0007t0006g0162 others(3): Show |
6 | 348 | 0.0172 | 320 | c.*13 others(331): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 740 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89597985 | C | CGTCCATC others(313): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0157 | 1 | 348 | 0.0029 | 320 | c.*13 others(331): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 740 | chr16 | TogoVar | |||||||
CRYBB1_chr22_26594278_26623027 | 26601643 | T | TCTAACAG others(313): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp1 others(61): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0002 | a0001c0001t0001a0001c0004t0001a0003c0002t0003 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0027 others(31): Show |
64 | 426 | 0.1502 | 320 | c.575 others(335): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CRYBB1_chr22_26594278_26623027 | 26601643 | T | TCTAACAG others(313): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 a0001c0001t0002g0142 |
2 | 426 | 0.0047 | 320 | c.575 others(335): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CRYGC_chr2_208123137_208134828 | 208125811 | A | AATACCTT others(313): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 444 | 0.0045 | 320 | c.*23 others(331): Show |
CRYGC | ENSG00000163254.5 | transcript | ENST00000282141.4 | protein_coding | 2325 | chr2 | TogoVar | |||||||
CRYGD_chr2_208116607_208129524 | 208125811 | A | AATACCTT others(313): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 2 | 454 | 0.0044 | 320 | c.-13 others(331): Show |
CRYGD | ENSG00000118231.5 | transcript | ENST00000264376.5 | protein_coding | 1288 | chr2 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3588097 | A | ATATCTTT others(313): Show |
intron_variant | MODIFIER | HG03540.hp2 HG06807.hp1 NA20129.hp2 |
a0001a0002a0009 | a0001c0111a0002c0035a0009c0113 | a0001c0111t0045a0002c0035t0047a0009c0113t0011 | a0001c0111t0045g0063 a0002c0035t0047g0076 a0009c0113t0011g0043 |
3 | 126 | 0.0238 | 320 | c.109 others(339): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149537754 | A | ACACATGA others(313): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00673.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 others(33): Show |
36 | 390 | 0.0923 | 320 | c.230 others(339): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66457640 | T | TAAAAAAA others(313): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0004t0001 | a0001c0001t0012g0038 a0001c0004t0001g0018 |
2 | 46 | 0.0435 | 320 | c.153 others(341): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66457640 | T | TAAAAAAA others(313): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02896.hp1 HG06807.hp1 |
a0001a0004 | a0001c0004a0001c0011a0004c0008 | a0001c0004t0007a0001c0011t0009a0004c0008t0005 | a0001c0004t0007g0005 a0001c0011t0009g0017 a0004c0008t0005g0033 |
3 | 46 | 0.0652 | 320 | c.153 others(341): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | |||||||
CTSV_chr9_97024677_97044142 | 97025951 | T | TAAAACCA others(313): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0033 | 1 | 410 | 0.0024 | 320 | c.*69 others(331): Show |
CTSV | ENSG00000136943.12 | transcript | ENST00000259470.6 | protein_coding | 3725 | chr9 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117716193 | A | AACTTTTT others(313): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01071.hp2 others(15): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0006a0003c0003others(2): Show | a0001c0001t0002a0001c0006t0002a0003c0003t0002others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0028 others(15): Show |
18 | 164 | 0.1098 | 320 | c.474 others(339): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 22/22 | chr7 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117716193 | A | AACTTTTT others(313): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 164 | 0.0061 | 320 | c.474 others(339): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 22/22 | chr7 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117716193 | A | AACTTTTT others(313): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0129 | 1 | 164 | 0.0061 | 320 | c.474 others(339): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 22/22 | chr7 | TogoVar | |||||||
CTTNBP2_chr7_117705651_117878441 | 117717035 | A | AACAAACC others(313): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 164 | 0.0061 | 320 | c.474 others(337): Show |
CTTNBP2 | ENSG00000077063.11 | transcript | ENST00000160373.8 | protein_coding | 22/22 | chr7 | TogoVar | |||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(313): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 264 | 0.0114 | 320 | c.*19 others(331): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
CXorf51A_chrX_146809106_146819744 | 146816232 | C | CCTATATA others(313): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 264 | 0.0114 | 320 | c.-15 others(331): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1489 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146808267 | T | TAATAAAA others(313): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 NA19077.hp1 |
a0000a0001 | a0000c0003a0001c0001 | a0000c0003t0002a0001c0001t0001 | a0000c0003t0002g0000 a0001c0001t0001g0001 |
2 | 272 | 0.0074 | 320 | c.-15 others(331): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1503 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146808270 | T | TAAAATTA others(313): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 320 | c.-15 others(331): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1500 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(313): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 272 | 0.0074 | 320 | c.*19 others(331): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932029 | A | GGAATGAG others(313): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0003 | a0003c0003 | a0003c0003t0060 | a0003c0003t0060g0110 a0003c0003t0060g0111 |
2 | 386 | 0.0052 | 320 | c.198 others(337): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932121 | T | TGGGCAGA others(313): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0006 | a0001c0006t0111 | a0001c0006t0111g0125 | 1 | 386 | 0.0026 | 320 | c.198 others(337): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932445 | G | GAGAGGAA others(313): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0001 | a0002c0001t0030 | a0002c0001t0030g0322 | 1 | 386 | 0.0026 | 320 | c.198 others(337): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932601 | T | TGAGGAGA others(313): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0003 | a0003c0003 | a0003c0003t0194 | a0003c0003t0194g0100 | 1 | 386 | 0.0026 | 320 | c.198 others(337): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932725 | G | GAGAGGAA others(313): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0001 | a0002c0001t0053 | a0002c0001t0053g0352 | 1 | 386 | 0.0026 | 320 | c.198 others(337): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932825 | G | GAGAGGAG others(313): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0001 | a0002c0001t0169 | a0002c0001t0169g0327 | 1 | 386 | 0.0026 | 320 | c.198 others(337): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932985 | G | GAGAGGAG others(313): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0001 | a0002c0001t0024 | a0002c0001t0024g0187 | 1 | 386 | 0.0026 | 320 | c.198 others(337): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933145 | G | GAGAGGAG others(313): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0160 | 1 | 386 | 0.0026 | 320 | c.198 others(337): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933952 | A | ATGAGTGA others(313): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0312 | 1 | 386 | 0.0026 | 320 | c.198 others(335): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933961 | C | CGGGCAGA others(313): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0051 | 1 | 386 | 0.0026 | 320 | c.198 others(335): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933981 | C | CGAGGAGA others(313): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0220 | 1 | 386 | 0.0026 | 320 | c.198 others(335): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933981 | C | CGAGGAGA others(313): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0239 | 1 | 386 | 0.0026 | 320 | c.198 others(335): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933981 | C | CGGGGAGA others(313): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0249 | 1 | 386 | 0.0026 | 320 | c.198 others(335): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F2_chr19_15873023_15903074 | 15883301 | T | TAAAAATG others(313): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0065 | 1 | 380 | 0.0026 | 320 | c.111 others(339): Show |
CYP4F2 | ENSG00000186115.13 | transcript | ENST00000221700.11 | protein_coding | 9/12 | chr19 | TogoVar | |||||||
DBX2_chr12_45009672_45056099 | 45025761 | T | TAGAAAGA others(313): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0082 | 1 | 416 | 0.0024 | 320 | c.500 others(337): Show |
DBX2 | ENSG00000185610.6 | transcript | ENST00000332700.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
DCC_chr18_52335197_53540899 | 52765030 | T | TTTTTTTT others(313): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0078 | 1 | 114 | 0.0088 | 320 | c.412 others(339): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53460169 | T | TGGGTCTT others(313): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01496.hp1 |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0025 a0001c0007t0003g0026 |
2 | 114 | 0.0175 | 320 | c.361 others(337): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24188358 | T | TAAAAGTT others(313): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0185 | 1 | 216 | 0.0046 | 320 | c.102 others(339): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 8/9 | chr6 | TogoVar | |||||||
DDR2_chr1_162627464_162792405 | 162791724 | T | TTTGTCTG others(313): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0133 | 1 | 302 | 0.0033 | 320 | c.*11 others(333): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 4320 | chr1 | TogoVar | |||||||
DDX60L_chr4_168351735_168485492 | 168472427 | T | TCCTTCTT others(313): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0038 | a0038c0092 | a0038c0092t0002 | a0038c0092t0002g0067 | 1 | 268 | 0.0037 | 320 | c.74+ others(331): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(313): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 367 | 0.0027 | 320 | c.-42 others(331): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397730 | G | GGGGTGGG others(313): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 367 | 0.0027 | 320 | c.-42 others(331): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4154 | chr16 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1164112 | G | GCCCCCCC others(313): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 40 | 0.0250 | 320 | c.74- others(337): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31452231 | T | TAAAAAAA others(313): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0029 | a0029c0044 | a0029c0044t0014 | a0029c0044t0014g0094 | 1 | 126 | 0.0079 | 320 | c.893 others(339): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 59/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31452231 | T | TAAAAAAA others(313): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | 320 | c.893 others(339): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 59/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31982955 | T | TTCAGAGC others(313): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0034 | 1 | 126 | 0.0079 | 320 | c.643 others(341): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21584948 | T | TAAAAAAA others(313): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0134 | a0134c0138 | a0134c0138t0005 | a0134c0138t0005g0011 | 1 | 298 | 0.0034 | 320 | c.171 others(339): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 9/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390450 | T | TATACACA others(313): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0031 | a0031c0041 | a0031c0041t0001 | a0031c0041t0001g0032 | 1 | 266 | 0.0038 | 320 | c.730 others(339): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar |