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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1247512 | G | GGAGTGAT others(40): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | 47 | c.74- others(64): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1247759 | G | GGAGTGAT others(40): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0035 | 1 | 40 | 0.0250 | 47 | c.74- others(64): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1417628 | C | CCTCCAGG others(40): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0036 | 1 | 28 | 0.0357 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1417639 | G | GCACGGGG others(40): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 35 | 0.0286 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1417697 | C | CCACTCCT others(40): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 38 | 0.0263 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1449802 | C | CGTGAAGA others(40): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0030 | 1 | 39 | 0.0256 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1449841 | A | AGCGGAGC others(40): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02895.hp1 HG03516.hp2 |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0003c0005t0004 | a0001c0003t0001g0026 a0001c0003t0001g0027 a0003c0005t0004g0037 |
3 | 36 | 0.0833 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1449926 | G | GGTGGCTG others(40): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0001 | 1 | 39 | 0.0256 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1450442 | C | CGGCCTCG others(40): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 5 | 0.2000 | 47 | c.107 others(66): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32335640 | C | CATAACAT others(40): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0117 | 1 | 38 | 0.0263 | 47 | c.592 others(66): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32335640 | C | CATAACAT others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(82): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0021others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0020 others(82): Show |
85 | 122 | 0.6967 | 47 | c.592 others(66): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32335672 | T | TATGTATA others(40): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02723.hp1 others(4): Show |
a0003a0005a0014others(1): Show | a0003c0003a0003c0008a0005c0056others(3): Show | a0003c0003t0017a0003c0008t0003a0003c0008t0018others(4): Show | a0003c0003t0017g0087 a0003c0008t0003g0116 a0003c0008t0018g0001 others(4): Show |
7 | 126 | 0.0556 | 47 | c.592 others(66): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 915745 | A | ATATTTTT others(40): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0018 | 1 | 303 | 0.0033 | 47 | c.823 others(64): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 782170 | C | CGCCTCCC others(40): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19240.hp1 |
a0011a0017 | a0011c0018a0017c0029 | a0011c0018t0010a0017c0029t0010 | a0011c0018t0010g0120 a0017c0029t0010g0119 |
2 | 285 | 0.0070 | 47 | c.243 others(66): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 782348 | G | GCGGCGTG others(40): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0251 | 1 | 374 | 0.0027 | 47 | c.243 others(66): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 782395 | C | CTGGCGTG others(40): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0286 | 1 | 373 | 0.0027 | 47 | c.243 others(66): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
DNAAF5_chr7_721699_791475 | 782649 | C | CACGCGGC others(40): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02155.hp2 HG03130.hp2 others(3): Show |
a0002 | a0002c0002a0002c0017a0002c0025 | a0002c0002t0001a0002c0017t0001a0002c0025t0001 | a0002c0002t0001g0243 a0002c0002t0001g0273 a0002c0002t0001g0275 others(3): Show |
6 | 140 | 0.0429 | 47 | c.243 others(66): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123910707 | C | CAAGGGAC others(40): Show |
intron_variant | MODIFIER | HG01243.hp2 NA20300.hp2 |
a0033a0069 | a0033c0095a0069c0060 | a0033c0095t0001a0069c0060t0001 | a0033c0095t0001g0169 a0069c0060t0001g0044 |
2 | 168 | 0.0119 | 47 | c.101 others(64): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123912143 | G | GGGGGGGT others(40): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19030.hp2 |
a0027 | a0027c0022 | a0027c0022t0001 | a0027c0022t0001g0120 a0027c0022t0001g0121 |
2 | 137 | 0.0146 | 47 | c.101 others(66): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789798 | T | TTTCTTTC others(40): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0093 | a0093c0118 | a0093c0118t0001 | a0093c0118t0001g0045 | 1 | 295 | 0.0034 | 47 | c.100 others(66): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(40): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0297 | 1 | 47 | 0.0213 | 47 | c.100 others(66): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(40): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0045 | a0045c0234 | a0045c0234t0005 | a0045c0234t0005g0212 | 1 | 47 | 0.0213 | 47 | c.100 others(66): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(40): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01496.hp2 HG03017.hp1 others(1): Show |
a0016a0030a0074others(1): Show | a0016c0006a0030c0021a0074c0215others(1): Show | a0016c0006t0002a0030c0021t0004a0074c0215t0003others(1): Show | a0016c0006t0002g0248 a0030c0021t0004g0152 a0074c0215t0003g0202 others(1): Show |
4 | 50 | 0.0800 | 47 | c.100 others(66): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0007 | a0007c0027 | a0007c0027t0001 | a0007c0027t0001g0134 | 1 | 276 | 0.0036 | 47 | c.229 others(64): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0224 | 1 | 276 | 0.0036 | 47 | c.229 others(64): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02135.hp1 NA18952.hp2 others(2): Show |
a0003a0006a0011others(2): Show | a0003c0123a0006c0019a0011c0106others(2): Show | a0003c0123t0009a0006c0019t0002a0011c0106t0001others(2): Show | a0003c0123t0009g0143 a0006c0019t0002g0041 a0011c0106t0001g0141 others(2): Show |
5 | 280 | 0.0179 | 47 | c.229 others(64): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGA others(40): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 170 | 0.0059 | 47 | c.324 others(64): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGA others(40): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0053 | a0053c0082 | a0053c0082t0001 | a0053c0082t0001g0225 | 1 | 170 | 0.0059 | 47 | c.324 others(64): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25120317 | G | GAGAGAGA others(40): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 47 | 0.0213 | 47 | c.124 others(66): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157357261 | T | TTCCTTTC others(40): Show |
intron_variant | MODIFIER | HG02258.hp1 NA20129.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0010a0003c0006t0001 | a0001c0001t0010g0335 a0003c0006t0001g0336 |
2 | 366 | 0.0055 | 47 | c.-26 others(64): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(40): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 NA18959.hp2 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 236 | 0.0169 | 47 | c.*29 others(58): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(40): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 233 | 0.0043 | 47 | c.*29 others(58): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
DNASE1L1_chrX_154396236_154414254 | 154396712 | A | ATATATAT others(40): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 157 | 0.0064 | 47 | c.*59 others(58): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4523 | chrX | TogoVar | |||||||
DNM3_chr1_171836498_172417717 | 172389304 | G | GATTGATC others(40): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0047 | 1 | 134 | 0.0075 | 47 | c.252 others(64): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25300659 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0218 | 1 | 288 | 0.0035 | 47 | c.73- others(60): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
DNMT3A_chr2_25222874_25346925 | 25300671 | A | ATATATCT others(40): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0004 | a0001c0004t0197 | a0001c0004t0197g0214 | 1 | 291 | 0.0034 | 47 | c.73- others(60): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 127093239 | C | CTTTCTTT others(40): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0108 | 1 | 107 | 0.0093 | 47 | c.244 others(68): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 23/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK5_chr8_25179689_25420711 | 25210041 | T | TATATGTA others(40): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0051 | a0001c0004t0051g0174 | 1 | 198 | 0.0051 | 47 | c.43+ others(64): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | chr8 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400472 | C | CATCCACC others(40): Show |
intron_variant | MODIFIER | NA18997.hp2 NA19005.hp2 |
a0001a0003 | a0001c0003a0003c0001 | a0001c0003t0001a0003c0001t0001 | a0001c0003t0001g0103 a0003c0001t0001g0152 |
2 | 69 | 0.0290 | 47 | c.323 others(66): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(40): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0039 | a0004c0039t0001 | a0004c0039t0001g0216 | 1 | 68 | 0.0147 | 47 | c.323 others(66): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(40): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0115 | a0002c0115t0001 | a0002c0115t0001g0037 | 1 | 68 | 0.0147 | 47 | c.323 others(66): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98965924 | T | TGGGGGGG others(40): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 346 | 0.0029 | 47 | c.127 others(66): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 1/52 | chr13 | TogoVar | |||||||
DOK6_chr18_69395888_69854087 | 69617724 | A | AAAGAAAG others(40): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 168 | 0.0060 | 47 | c.289 others(66): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634658 | C | CCCTTCCT others(40): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0083 | 1 | 184 | 0.0054 | 47 | c.105 others(64): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634737 | C | CCCTTCCT others(40): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19009.hp1 NA19079.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 others(3): Show |
6 | 194 | 0.0309 | 47 | c.105 others(64): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634845 | T | TCCTTTCC others(40): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0156 | 1 | 246 | 0.0041 | 47 | c.105 others(64): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634850 | T | TCCCTTCC others(40): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 246 | 0.0041 | 47 | c.105 others(64): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635025 | C | CCCTTCCT others(40): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0073 |
2 | 230 | 0.0087 | 47 | c.105 others(62): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 55 | 0.0182 | 47 | c.312 others(66): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137551734 | A | AGCCCCGC others(40): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0237 | 1 | 177 | 0.0056 | 47 | c.*35 others(58): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 2709 | chr9 | TogoVar |