regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSRNP3_chr2_165464698_165694407 | 165658194 | AAACTTAC others(56): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0082 | a0001c0002t0082g0199 | 1 | 246 | 0.0041 | -63 | c.408 others(78): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CST9L_chr20_23559732_23573484 | 23561021 | TTCTTTCC others(56): Show |
T | downstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 392 | 0.0026 | -63 | c.*38 others(74): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3710 | chr20 | TogoVar | ||||||
CXCL13_chr4_77600820_77616834 | 77610363 | ACCTCTGA others(56): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 366 | 0.0027 | -63 | c.198 others(78): Show |
CXCL13 | ENSG00000156234.8 | transcript | ENST00000682537.1 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
CYBRD1_chr2_171517474_171563129 | 171558414 | ATATCATA others(56): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01496.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0030others(30): Show | 42 | 394 | 0.1066 | -63 | c.*35 others(74): Show |
CYBRD1 | ENSG00000071967.12 | transcript | ENST00000321348.9 | protein_coding | 286 | chr2 | TogoVar | ||||||
CYLD_chr16_50737086_50806935 | 50801687 | ATTTTCTA others(56): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0003 | 1 | 302 | 0.0033 | -63 | c.*51 others(74): Show |
CYLD | ENSG00000083799.18 | transcript | ENST00000427738.8 | protein_coding | 19/19 | 5180 | chr16 | TogoVar | |||||
CYSLTR1_chrX_78266468_78332611 | 78266849 | ATGGTTTG others(56): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 240 | 0.0042 | -63 | c.*58 others(74): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 4618 | chrX | TogoVar | ||||||
DACT2_chr6_168301904_168324777 | 168321862 | TCTCCTTC others(56): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0015 | a0002c0015t0004 | a0002c0015t0004g0162 | 1 | 476 | 0.0021 | -63 | c.-22 others(74): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2086 | chr6 | TogoVar | ||||||
DBF4_chr7_87871493_87914553 | 87899491 | TAAGCATA others(56): Show |
T | intron_variant | MODIFIER | NA18975.hp2 | a0009 | a0009c0008 | a0009c0008t0014 | a0009c0008t0014g0054 | 1 | 292 | 0.0034 | -63 | c.681 others(78): Show |
DBF4 | ENSG00000006634.8 | transcript | ENST00000265728.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DCBLD2_chr3_98790941_98906695 | 98837033 | TGGCCGGG others(56): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(111): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0005a0001c0011others(5): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(21): Show | a0001c0002t0002g0009a0001c0002t0002g0010a0001c0002t0002g0011others(108): Show | 114 | 330 | 0.3455 | -63 | c.572 others(82): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53193647 | TTGCTGGC others(56): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0097 | 1 | 114 | 0.0088 | -63 | c.157 others(84): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 9/28 | chr18 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3775131 | GTGAGCTA others(56): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01361.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0004a0001c0001t0021a0001c0002t0001others(11): Show | a0001c0001t0004g0053a0001c0001t0021g0106a0001c0002t0001g0006others(26): Show | 29 | 324 | 0.0895 | -63 | c.955 others(80): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3775542 | GCTGTGGC others(56): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02055.hp1 HG02135.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0004a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0004g0294a0001c0001t0006g0293a0001c0002t0001g0134others(7): Show | 10 | 324 | 0.0309 | -63 | c.955 others(80): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14211769 | TTTTACTC others(56): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0120 | 1 | 148 | 0.0068 | -63 | c.212 others(84): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14211875 | TTTTACTC others(56): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 148 | 0.0068 | -63 | c.212 others(84): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14211896 | TTTTACTC others(56): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0094 | 1 | 148 | 0.0068 | -63 | c.212 others(84): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212175 | ATTTACTC others(56): Show |
A | intron_variant | MODIFIER | HG03041.hp1 NA18984.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0002 | a0001c0002t0003g0003a0001c0004t0002g0131 | 2 | 148 | 0.0135 | -63 | c.212 others(84): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42181816 | CTGCTGGC others(56): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG02083.hp1 others(12): Show |
a0001a0002a0012 | a0001c0002a0001c0004a0001c0025others(2): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0019others(8): Show | a0001c0002t0001g0129a0001c0002t0001g0140a0001c0002t0012g0049others(12): Show | 15 | 316 | 0.0475 | -63 | c.153 others(82): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DHRSX_chrX_2214506_2505976 | 2228031 | AGGAAGGG others(56): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0001 | 1 | 50 | 0.0200 | -63 | c.805 others(80): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579627 | AAAAAAAA others(56): Show |
A | intron_variant | MODIFIER | NA18969.hp2 | a0005 | a0005c0016 | a0005c0016t0004 | a0005c0016t0004g0215 | 1 | 284 | 0.0035 | -63 | c.101 others(82): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50579629 | AAAAAAAA others(56): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01975.hp2 others(23): Show |
a0001a0008a0010 | a0001c0002a0001c0010a0001c0015others(2): Show | a0001c0002t0003a0001c0002t0004a0001c0010t0004others(3): Show | a0001c0002t0003g0184a0001c0002t0003g0189a0001c0002t0003g0239others(23): Show | 26 | 284 | 0.0916 | -63 | c.101 others(82): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50579631 | AAAAAAAA others(56): Show |
A | intron_variant | MODIFIER | HG00544.hp2 NA19057.hp1 |
a0001 | a0001c0002 | a0001c0002t0041a0001c0002t0042 | a0001c0002t0041g0244a0001c0002t0042g0253 | 2 | 284 | 0.0070 | -63 | c.101 others(82): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50579633 | AAAAAAAA others(56): Show |
A | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0112 | 1 | 284 | 0.0035 | -63 | c.101 others(82): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50579635 | AAAAAAAA others(56): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0187 | 1 | 284 | 0.0035 | -63 | c.101 others(82): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50593228 | TGGGTGCA others(56): Show |
T | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0234 | 1 | 284 | 0.0035 | -63 | c.101 others(82): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1014800 | TGTGACCA others(56): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0010 | a0001c0010t0025 | a0001c0010t0025g0012 | 1 | 40 | 0.0250 | -63 | c.73+ others(82): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1074016 | AGCTGAAC others(56): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01361.hp1 others(9): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(8): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0003t0001g0025others(9): Show | 12 | 40 | 0.3000 | -63 | c.73+ others(82): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMD_chrX_31114222_33216549 | 33190942 | AATATATA others(56): Show |
A | intron_variant | MODIFIER | HG02083.hp1 NA19005.hp1 |
a0006a0012 | a0006c0006a0012c0040 | a0006c0006t0001a0012c0040t0001 | a0006c0006t0001g0047a0012c0040t0001g0048 | 2 | 126 | 0.0159 | -63 | c.31+ others(80): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78437244 | TGTACTCC others(56): Show |
T | intron_variant | MODIFIER | HG03490.hp1 | a0116 | a0116c0191 | a0116c0191t0001 | a0116c0191t0001g0158 | 1 | 252 | 0.0040 | -63 | c.120 others(82): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 74/80 | chr17 | TogoVar | ||||||
DNAJB4_chr1_77999939_78022964 | 78020506 | CTCACTAG others(56): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 424 | 0.0024 | -63 | c.*42 others(74): Show |
DNAJB4 | ENSG00000162616.9 | transcript | ENST00000370763.6 | protein_coding | 2543 | chr1 | TogoVar | ||||||
DNM3_chr1_171836498_172417717 | 171950053 | GCAATGGA others(56): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 136 | 0.0074 | -63 | c.235 others(82): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DOCK4_chr7_111721110_112211399 | 112013766 | ACATCCTC others(56): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0006t0004 | a0001c0001t0001g0013a0001c0002t0002g0024a0001c0006t0004g0055 | 3 | 106 | 0.0283 | -63 | c.38- others(78): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 1/52 | chr7 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54481031 | CTATCATC others(56): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01074.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0002g0115a0001c0001t0004g0110a0001c0001t0004g0114others(14): Show | 17 | 130 | 0.1308 | -63 | c.66+ others(78): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137549693 | CAGAATTG others(56): Show |
C | downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 340 | 0.0029 | -63 | c.*54 others(74): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 4750 | chr9 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 114773319 | AACTCATC others(56): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01192.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(11): Show | a0001c0002t0001g0019a0001c0002t0001g0025a0001c0002t0001g0038others(21): Show | 24 | 56 | 0.4286 | -63 | c.60+ others(82): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 114773363 | GCCTGACT others(56): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02809.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0001a0005c0008others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0002t0001g0004a0001c0002t0001g0017a0002c0001t0001g0040others(3): Show | 6 | 56 | 0.1071 | -63 | c.60+ others(82): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DUSP22_chr6_287487_356355 | 326437 | GGAGTCAT others(56): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02280.hp2 |
a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0139a0002c0004t0009g0140 | 2 | 221 | 0.0091 | -63 | c.139 others(80): Show |
DUSP22 | ENSG00000112679.15 | transcript | ENST00000419235.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DUSP22_chr6_287487_356355 | 326490 | GGGTGCCT others(56): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01109.hp2 others(25): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0135a0001c0002t0002g0136a0001c0002t0002g0137others(25): Show | 28 | 221 | 0.1267 | -63 | c.139 others(80): Show |
DUSP22 | ENSG00000112679.15 | transcript | ENST00000419235.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
E2F2_chr1_23501438_23536233 | 23531849 | CGTTGTTT others(56): Show |
C | upstream_gene_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 396 | 0.0025 | -63 | c.-11 others(74): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 617 | chr1 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377499 | ATGCTGTG others(56): Show |
A | intron_variant | MODIFIER | HG02895.hp2 NA18522.hp1 NA19003.hp1 |
a0001a0014 | a0001c0009a0014c0023 | a0001c0009t0001a0014c0023t0001 | a0001c0009t0001g0182a0001c0009t0001g0198a0014c0023t0001g0234 | 3 | 384 | 0.0078 | -63 | c.215 others(80): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378008 | ATGCTGTG others(56): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0257 | 1 | 384 | 0.0026 | -63 | c.215 others(80): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | ||||||
ELP1_chr9_108862517_108939124 | 108900755 | CACACACA others(56): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0293 | 1 | 416 | 0.0024 | -63 | c.201 others(80): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 18/36 | chr9 | TogoVar | ||||||
ELP6_chr3_47490640_47518712 | 47497417 | ACCTCCGC others(56): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0165 | 2 | 374 | 0.0054 | -63 | c.672 others(78): Show |
ELP6 | ENSG00000163832.16 | transcript | ENST00000296149.9 | protein_coding | 6/6 | chr3 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928152 | GTGGTGAT others(56): Show |
G | intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0102 | 1 | 288 | 0.0035 | -63 | c.190 others(82): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ENOSF1_chr18_665318_717630 | 666998 | GAGATGGT others(56): Show |
G | downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0289a0002c0002t0005g0290 | 2 | 418 | 0.0048 | -63 | c.*72 others(74): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3319 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667400 | TGATGGTG others(56): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp1 NA18993.hp1 |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0002a0009c0014t0027 | a0001c0001t0002g0126a0009c0014t0027g0156 | 2 | 418 | 0.0048 | -63 | c.*68 others(74): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2917 | chr18 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43293079 | CCTCACCA others(56): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0141 | 1 | 188 | 0.0053 | -63 | c.144 others(82): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 12/16 | chr13 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131995581 | ACCGTTCA others(56): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0061 | a0005c0061t0002 | a0005c0061t0002g0071 | 1 | 208 | 0.0048 | -63 | c.282 others(80): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66018519 | AATATATA others(56): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0223 | 1 | 306 | 0.0033 | -63 | c.534 others(80): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERICH1_chr8_659200_736224 | 696337 | CCTCCACT others(56): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03579.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253a0001c0001t0002g0355a0001c0001t0002g0359others(2): Show | 5 | 378 | 0.0132 | -63 | c.170 others(80): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 696371 | GCTCGCTC others(56): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 378 | 0.0027 | -63 | c.170 others(80): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar |