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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYM_chr18_49031387_49465645 | 49324138 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG01515.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0176a0001c0001t0003g0229a0001c0001t0003g0231others(5): Show | 8 | 290 | 0.0276 | 7 | c.763 others(24): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49393083 | G | GGGGAGGA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02004.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0025a0001c0001t0001g0037a0001c0001t0001g0038others(6): Show | 9 | 290 | 0.0310 | 7 | c.141 others(24): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 2/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49440837 | A | ATTTATAT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0142a0001c0001t0002g0287a0001c0001t0003g0115others(26): Show | 29 | 290 | 0.1000 | 7 | c.-53 others(26): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49441106 | T | TATATATA | intron_variant | MODIFIER | HG02015.hp1 HG03942.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210a0001c0001t0003g0226a0001c0001t0003g0227others(1): Show | 4 | 290 | 0.0138 | 7 | c.-53 others(26): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 101998879 | C | CTTTTTTT | intron_variant | MODIFIER | HG03098.hp1 HG03471.hp1 HG03516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0178a0001c0001t0002g0206a0001c0001t0002g0210others(4): Show | 7 | 280 | 0.0250 | 7 | c.380 others(26): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 16/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DYNC1H1_chr14_101959573_102061443 | 102053751 | G | GTTTGTTT | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG02273.hp2 HG03688.hp2 others(9): Show |
a0001a0007 | a0001c0006a0007c0019 | a0001c0006t0006a0007c0019t0025 | a0001c0006t0006g0257a0001c0006t0006g0258a0001c0006t0006g0259others(9): Show | 12 | 280 | 0.0429 | 7 | c.*31 others(18): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 78/78 | 3192 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
DYNC1H1_chr14_101959573_102061443 | 102057712 | C | CAACACCT | downstream_gene_variant | MODIFIER | HG01346.hp2 HG03688.hp1 NA18963.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0009 | a0001c0002t0001g0057a0001c0002t0001g0126a0001c0002t0001g0250others(1): Show | 4 | 280 | 0.0143 | 7 | c.*71 others(18): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 1270 | chr14 | TogoVar | ||||||
DYNC2H1_chr11_103104426_103484863 | 103288684 | T | TAAAAAAA | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02486.hp1 others(2): Show |
a0002 | a0002c0007a0002c0009a0002c0026 | a0002c0007t0001a0002c0009t0001a0002c0026t0001 | a0002c0007t0001g0070a0002c0007t0001g0071a0002c0009t0001g0251others(2): Show | 5 | 262 | 0.0191 | 7 | c.110 others(28): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 75/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103483022 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02015.hp2 HG02040.hp2 HG03139.hp1 others(3): Show |
a0002a0003a0013 | a0002c0003a0003c0002a0013c0019 | a0002c0003t0001a0003c0002t0001a0013c0019t0001 | a0002c0003t0001g0016a0002c0003t0001g0038a0002c0003t0001g0039others(3): Show | 6 | 262 | 0.0229 | 7 | c.*37 others(18): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 3160 | chr11 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158869820 | T | TTTTAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(158): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0012a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0003a0001c0001t0002g0105a0001c0001t0002g0106others(158): Show | 161 | 274 | 0.5876 | 7 | c.16- others(18): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158937622 | G | GAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(95): Show |
a0001a0002a0012others(4): Show | a0001c0001a0002c0002a0002c0017others(5): Show | a0001c0001t0005a0001c0001t0019a0002c0002t0001others(10): Show | a0001c0001t0005g0136a0001c0001t0005g0139a0001c0001t0005g0180others(95): Show | 98 | 274 | 0.3577 | 7 | c.277 others(26): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2I2_chr9_128628653_128661847 | 128640012 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(321): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(278): Show | 324 | 368 | 0.8804 | 7 | c.435 others(22): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 2/8 | chr9 | TogoVar | ||||||
DYNC2I2_chr9_128628653_128661847 | 128649688 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(58): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0005a0001c0003t0001others(4): Show | a0001c0002t0001g0001a0001c0002t0001g0026a0001c0002t0001g0027others(46): Show | 61 | 368 | 0.1658 | 7 | c.186 others(24): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATTT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02027.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0002t0001g0015a0001c0004t0001g0055 | 6 | 396 | 0.0152 | 7 | c.*75 others(16): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636070 | T | TATATATA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02257.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(1): Show | 5 | 396 | 0.0126 | 7 | c.*75 others(16): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 403 | chr6 | TogoVar | ||||||
DYNLT3_chrX_37833836_37852571 | 37834545 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG02818.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0042a0001c0002t0003g0090 | 2 | 324 | 0.0062 | 7 | c.*60 others(18): Show |
DYNLT3 | ENSG00000165169.11 | transcript | ENST00000378578.9 | protein_coding | 4290 | chrX | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37411049 | T | TAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp2 HG01361.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0140 | a0001c0001t0002g0207a0001c0001t0002g0209a0001c0001t0002g0219others(3): Show | 6 | 350 | 0.0171 | 7 | c.-76 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37416317 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0126a0001c0001t0002g0189a0001c0001t0002g0192others(19): Show | 23 | 350 | 0.0657 | 7 | c.-76 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37454085 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp1 others(23): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0117others(22): Show | 26 | 350 | 0.0743 | 7 | c.11- others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37479606 | G | GTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG02056.hp1 HG02293.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032a0001c0001t0046others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0054others(6): Show | 9 | 350 | 0.0257 | 7 | c.301 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37479612 | G | GTTTTTGT | intron_variant | MODIFIER | HG03098.hp2 HG03704.hp1 HG03704.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0086others(2): Show | a0001c0001t0002g0182a0001c0001t0003g0152a0001c0001t0003g0200others(3): Show | 6 | 350 | 0.0171 | 7 | c.301 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37479612 | G | GTTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01106.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0021others(3): Show | a0001c0001t0001g0070a0001c0001t0010g0334a0001c0001t0021g0243others(5): Show | 8 | 350 | 0.0229 | 7 | c.301 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37479617 | T | TGTTTTTG | intron_variant | MODIFIER | HG02015.hp1 HG02165.hp2 NA18943.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0037a0001c0001t0124others(3): Show | a0001c0001t0004g0220a0001c0001t0004g0222a0001c0001t0004g0227others(6): Show | 9 | 350 | 0.0257 | 7 | c.301 others(24): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | chr21 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4561462 | T | TTTTTTTC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01243.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0020a0001c0001t0001g0381a0001c0001t0001g0382others(11): Show | 15 | 414 | 0.0362 | 7 | c.-78 others(16): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 745 | chr12 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71537223 | G | GTTTTGTT | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp2 HG02280.hp2 others(2): Show |
a0001a0025 | a0001c0003a0001c0014a0001c0038others(1): Show | a0001c0003t0001a0001c0014t0001a0001c0038t0001others(1): Show | a0001c0003t0001g0091a0001c0003t0001g0117a0001c0014t0001g0169others(2): Show | 5 | 192 | 0.0260 | 7 | c.139 others(26): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 15/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71555062 | A | AGCATGGC | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp1 HG02965.hp2 others(3): Show |
a0001a0015 | a0001c0004a0001c0005a0001c0013others(1): Show | a0001c0004t0001a0001c0004t0003a0001c0005t0001others(2): Show | a0001c0004t0001g0149a0001c0004t0003g0065a0001c0004t0003g0084others(3): Show | 6 | 192 | 0.0313 | 7 | c.205 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 21/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71537223 | G | GTTTTGTT | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG02257.hp1 others(3): Show |
a0001a0028 | a0001c0003a0001c0004a0001c0014others(2): Show | a0001c0003t0001a0001c0004t0001a0001c0014t0002others(2): Show | a0001c0003t0001g0014a0001c0003t0001g0043a0001c0004t0001g0030others(3): Show | 6 | 208 | 0.0289 | 7 | c.149 others(26): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 16/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71555062 | A | AGCATGGC | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp1 HG02965.hp1 others(4): Show |
a0001a0016 | a0001c0004a0001c0005a0001c0009others(2): Show | a0001c0004t0003a0001c0005t0001a0001c0009t0001others(2): Show | a0001c0004t0003g0112a0001c0004t0003g0113a0001c0004t0003g0134others(4): Show | 7 | 208 | 0.0337 | 7 | c.211 others(24): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 21/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYTN_chr2_206646621_206723396 | 206673579 | C | CCTAAGAT | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01099.hp2 others(48): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0004a0003c0003others(3): Show | a0002c0002t0001a0002c0004t0001a0003c0003t0001others(3): Show | a0002c0002t0001g0010a0002c0002t0001g0074a0002c0002t0001g0159others(44): Show | 51 | 382 | 0.1335 | 7 | c.981 others(24): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18380791 | T | TCTAGAAG | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0007a0001c0015 | a0001c0007t0004a0001c0015t0004 | a0001c0007t0004g0022a0001c0007t0004g0117a0001c0007t0004g0201others(6): Show | 10 | 374 | 0.0267 | 7 | c.*36 others(18): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 2575 | chr20 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18409583 | C | CACACACA | intron_variant | MODIFIER | HG00735.hp2 HG02148.hp2 HG02698.hp1 others(11): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0272a0001c0001t0002g0283a0001c0001t0002g0290others(11): Show | 14 | 374 | 0.0374 | 7 | c.150 others(26): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 13/20 | chr20 | TogoVar | ||||||
DZANK1_chr20_18378367_18472030 | 18422799 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(71): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0007a0003c0016others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0002g0026a0001c0001t0002g0046a0001c0001t0002g0047others(68): Show | 74 | 374 | 0.1979 | 7 | c.101 others(26): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 10/20 | chr20 | TogoVar | ||||||
DZIP1_chr13_95573202_95649706 | 95600579 | A | AGATAGAT | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01981.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0183a0001c0001t0001g0235a0001c0001t0001g0241others(7): Show | 10 | 382 | 0.0262 | 7 | c.147 others(26): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 14/22 | chr13 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108619325 | T | TGTGTGTG | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG01891.hp2 others(3): Show |
a0001a0006 | a0001c0004a0006c0014 | a0001c0004t0004a0001c0004t0015a0006c0014t0004 | a0001c0004t0004g0012a0001c0004t0004g0013a0001c0004t0004g0014others(3): Show | 6 | 318 | 0.0189 | 7 | c.375 others(24): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | chr3 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108697439 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02735.hp2 HG03516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0002t0001g0225others(3): Show | 6 | 318 | 0.0189 | 7 | c.*40 others(18): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 2600 | chr3 | TogoVar | ||||||
E2F5_chr8_85172154_85219518 | 85213542 | T | TAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01106.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0066a0001c0001t0001g0077a0001c0001t0001g0085others(23): Show | 26 | 336 | 0.0774 | 7 | c.932 others(22): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EAF2_chr3_121830209_121891526 | 121845459 | A | AAAAAAAG | intron_variant | MODIFIER | HG01256.hp2 HG02738.hp1 HG03688.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0081others(3): Show | 6 | 318 | 0.0189 | 7 | c.201 others(22): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EBF1_chr5_158690920_159104916 | 158894396 | A | AAAAAAAT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00639.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(29): Show | a0001c0001t0001g0142a0001c0001t0002g0150a0001c0001t0006g0019others(51): Show | 54 | 196 | 0.2755 | 7 | c.555 others(26): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158940763 | G | GCCCCCCC | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG01884.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0107a0001c0001t0002g0168a0001c0001t0005g0159others(8): Show | 11 | 196 | 0.0561 | 7 | c.555 others(28): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25838165 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00597.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0021others(3): Show | a0001c0001t0002g0011a0001c0001t0002g0016a0001c0001t0002g0021others(36): Show | 39 | 220 | 0.1773 | 7 | c.*64 others(18): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3559 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25838189 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG03492.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0062a0001c0001t0002g0143a0001c0001t0004g0031 | 3 | 220 | 0.0136 | 7 | c.*64 others(18): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3535 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25986001 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01070.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0032a0001c0001t0002g0111a0001c0001t0003g0180others(7): Show | 10 | 220 | 0.0455 | 7 | c.551 others(26): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005320 | T | TATATATA | intron_variant | MODIFIER | HG02280.hp1 HG03486.hp2 NA21309.hp1 |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0011a0001c0004t0008a0001c0005t0008 | a0001c0002t0011g0219a0001c0004t0008g0154a0001c0005t0008g0155 | 3 | 220 | 0.0136 | 7 | c.551 others(26): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005346 | T | TTATATAA | intron_variant | MODIFIER | HG03130.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0033a0001c0005t0001g0034 | 2 | 220 | 0.0091 | 7 | c.551 others(26): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005545 | T | TATATATA | intron_variant | MODIFIER | NA18946.hp1 NA18970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0093a0001c0002t0001g0094 | 2 | 220 | 0.0091 | 7 | c.551 others(26): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26032480 | A | AAGTTAAT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0032a0001c0001t0001g0037a0001c0001t0001g0039others(49): Show | 52 | 220 | 0.2364 | 7 | c.551 others(22): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129878661 | C | CAAAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG02145.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0257a0001c0001t0002g0078a0001c0001t0006g0002others(3): Show | 6 | 338 | 0.0178 | 7 | c.555 others(22): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129878823 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG02148.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0157a0001c0001t0001g0264others(10): Show | 13 | 338 | 0.0385 | 7 | c.555 others(22): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129917651 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01258.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0012a0001c0001t0044others(2): Show | a0001c0001t0002g0006a0001c0001t0002g0042a0001c0001t0002g0096others(5): Show | 8 | 338 | 0.0237 | 7 | c.554 others(26): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF4_chr20_2687780_2765108 | 2700720 | T | TACCCCCA | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00741.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0339a0001c0001t0001g0376a0001c0001t0002g0002others(23): Show | 27 | 388 | 0.0696 | 7 | c.138 others(24): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 1/16 | chr20 | TogoVar |