| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DYSF_chr2_71448561_71691763 | 71618901 | A | ACTCCCAG others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03139.hp2 |
a0001a0002 | a0001c0064a0002c0022 | a0001c0064t0001a0002c0022t0001 | a0001c0064t0001g0046a0002c0022t0001g0001 | 2 | 192 | 0.0104 | 8 | c.441 others(27): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DYSF_chr2_71461699_71691763 | 71470713 | C | CTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01123.hp1 HG01167.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0025a0002c0070others(1): Show | a0001c0001t0001a0001c0025t0002a0002c0070t0001others(1): Show | a0001c0001t0001g0078a0001c0001t0001g0203a0001c0025t0002g0191others(2): Show | 5 | 208 | 0.0240 | 8 | c.91+ others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DYSF_chr2_71461699_71691763 | 71470737 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01433.hp2 others(1): Show |
a0001a0003a0026 | a0001c0002a0001c0081a0003c0065others(1): Show | a0001c0002t0001a0001c0081t0001a0003c0065t0001others(1): Show | a0001c0002t0001g0017a0001c0081t0001g0018a0003c0065t0001g0110others(1): Show | 4 | 208 | 0.0192 | 8 | c.91+ others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 1/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DYSF_chr2_71461699_71691763 | 71481695 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02630.hp2 HG03130.hp1 others(8): Show |
a0001a0006a0027others(1): Show | a0001c0001a0001c0002a0001c0015others(7): Show | a0001c0001t0001a0001c0002t0002a0001c0015t0001others(7): Show | a0001c0001t0001g0135a0001c0002t0002g0172a0001c0015t0001g0207others(8): Show | 11 | 208 | 0.0529 | 8 | c.148 others(23): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DYSF_chr2_71461699_71691763 | 71532830 | T | TTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01175.hp1 others(17): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(13): Show | a0001c0001t0001g0078a0001c0001t0001g0105a0001c0002t0001g0017others(17): Show | 20 | 208 | 0.0962 | 8 | c.138 others(27): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DYSF_chr2_71461699_71691763 | 71565246 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02630.hp1 HG02809.hp1 others(3): Show |
a0001a0003a0016others(2): Show | a0001c0005a0001c0010a0003c0088others(3): Show | a0001c0005t0001a0001c0010t0005a0003c0088t0006others(3): Show | a0001c0005t0001g0087a0001c0010t0005g0091a0003c0088t0006g0192others(3): Show | 6 | 208 | 0.0289 | 8 | c.256 others(27): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 24/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DYSF_chr2_71461699_71691763 | 71618901 | A | ACTCCCAG others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp2 |
a0001a0002 | a0001c0067a0002c0022 | a0001c0067t0001a0002c0022t0001 | a0001c0067t0001g0083a0002c0022t0001g0201 | 2 | 208 | 0.0096 | 8 | c.446 others(27): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DYTN_chr2_206646621_206723396 | 206647632 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01168.hp2 HG01169.hp1 others(15): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0010 | a0001c0001t0001a0002c0002t0001a0010c0010t0001 | a0001c0001t0001g0026a0001c0001t0001g0043a0001c0001t0001g0058others(15): Show | 18 | 382 | 0.0471 | 8 | c.*41 others(19): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 3988 | chr2 | TogoVar | |||||||
| DYTN_chr2_206646621_206723396 | 206651371 | T | TTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01496.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121a0002c0002t0001g0122a0002c0002t0001g0123others(2): Show | 5 | 382 | 0.0131 | 8 | c.*44 others(17): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 249 | chr2 | TogoVar | |||||||
| DYTN_chr2_206646621_206723396 | 206667697 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01515.hp1 HG03195.hp1 |
a0004a0009 | a0004c0005a0009c0009 | a0004c0005t0001a0009c0009t0001 | a0004c0005t0001g0104a0004c0005t0001g0173a0009c0009t0001g0205 | 3 | 382 | 0.0079 | 8 | c.981 others(25): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | |||||||
| DYTN_chr2_206646621_206723396 | 206675115 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02055.hp1 HG02071.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0039others(15): Show | 20 | 382 | 0.0524 | 8 | c.981 others(25): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | |||||||
| DYTN_chr2_206646621_206723396 | 206685143 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01255.hp2 HG01346.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0030a0001c0001t0001g0043a0001c0001t0001g0130others(10): Show | 13 | 382 | 0.0340 | 8 | c.980 others(25): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 9/11 | chr2 | TogoVar | |||||||
| DYTN_chr2_206646621_206723396 | 206717043 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02148.hp1 HG02258.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0217a0001c0001t0001g0218a0001c0001t0001g0343others(17): Show | 21 | 382 | 0.0550 | 8 | c.19+ others(23): Show |
DYTN | ENSG00000232125.5 | transcript | ENST00000452335.2 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
| DZANK1_chr20_18378367_18472030 | 18386882 | A | AGAACAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0009a0001c0007t0012 | a0001c0001t0001g0293a0001c0001t0009g0024a0001c0001t0009g0179others(2): Show | 6 | 374 | 0.0160 | 8 | c.209 others(27): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 19/20 | chr20 | TogoVar | |||||||
| DZANK1_chr20_18378367_18472030 | 18409551 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG02258.hp2 others(5): Show |
a0001a0007 | a0001c0007a0007c0011 | a0001c0007t0004a0001c0007t0013a0007c0011t0007 | a0001c0007t0004g0022a0001c0007t0004g0249a0001c0007t0004g0256others(4): Show | 8 | 374 | 0.0214 | 8 | c.150 others(27): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 13/20 | chr20 | TogoVar | |||||||
| DZANK1_chr20_18378367_18472030 | 18450077 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01071.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0002a0001c0006t0001a0002c0004t0003 | a0001c0001t0002g0046a0001c0001t0002g0047a0001c0006t0001g0003others(12): Show | 17 | 374 | 0.0455 | 8 | c.601 others(25): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 6/20 | chr20 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95600590 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01358.hp2 HG02027.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(3): Show | a0001c0001t0001g0076a0001c0001t0001g0232a0001c0001t0001g0264others(13): Show | 16 | 382 | 0.0419 | 8 | c.147 others(27): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 14/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95600621 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 NA18943.hp1 NA18964.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0001t0008a0001c0016t0008 | a0001c0001t0002g0354a0001c0001t0008g0330a0001c0016t0008g0334 | 3 | 382 | 0.0079 | 8 | c.147 others(27): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 14/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95600625 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01433.hp1 HG02040.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0053a0001c0001t0002g0059a0001c0001t0002g0060others(15): Show | 19 | 382 | 0.0497 | 8 | c.147 others(27): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 14/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95600629 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0029a0001c0004t0004 | a0001c0001t0029g0054a0001c0004t0004g0004a0001c0004t0004g0199others(1): Show | 5 | 382 | 0.0131 | 8 | c.147 others(27): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 14/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95600629 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03098.hp2 HG03209.hp1 others(1): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0012others(1): Show | a0002c0002t0014a0003c0003t0001a0004c0012t0035others(1): Show | a0002c0002t0014g0067a0003c0003t0001g0131a0004c0012t0035g0152others(1): Show | 4 | 382 | 0.0105 | 8 | c.147 others(27): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 14/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95603306 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0015a0001c0004t0004 | a0001c0001t0004g0151a0001c0001t0004g0153a0001c0001t0004g0156others(7): Show | 11 | 382 | 0.0288 | 8 | c.147 others(27): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 14/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95610055 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02056.hp1 HG02083.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0012 | a0001c0001t0001g0229a0003c0003t0001g0001a0003c0003t0001g0109others(5): Show | 10 | 382 | 0.0262 | 8 | c.136 others(25): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 12/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95610109 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02886.hp2 HG02922.hp1 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0014a0003c0003t0011 | a0002c0002t0002g0002a0002c0002t0002g0030a0002c0002t0002g0084others(3): Show | 8 | 382 | 0.0209 | 8 | c.136 others(25): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 12/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95610111 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01168.hp2 HG04204.hp1 others(10): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0038a0006c0011t0001 | a0001c0001t0001g0006a0001c0001t0001g0223a0001c0001t0001g0251others(9): Show | 13 | 382 | 0.0340 | 8 | c.136 others(25): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 12/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95621665 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01074.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0180a0001c0001t0001g0184a0001c0001t0001g0185others(13): Show | 16 | 382 | 0.0419 | 8 | c.111 others(25): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 9/22 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95645320 | C | CTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG01099.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0186a0001c0001t0001g0190a0001c0001t0001g0232others(12): Show | 15 | 382 | 0.0393 | 8 | c.-14 others(19): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 615 | chr13 | TogoVar | |||||||
| DZIP1_chr13_95573202_95649706 | 95645340 | A | ATATATAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324a0001c0001t0002g0325a0001c0001t0002g0326others(2): Show | 5 | 382 | 0.0131 | 8 | c.-14 others(19): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 635 | chr13 | TogoVar | |||||||
| DZIP3_chr3_108584722_108699840 | 108616265 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG01975.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0015a0002c0003t0001others(1): Show | a0001c0001t0001g0118a0001c0001t0001g0120a0001c0001t0001g0130others(14): Show | 17 | 318 | 0.0535 | 8 | c.259 others(23): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DZIP3_chr3_108584722_108699840 | 108622880 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02976.hp2 NA18993.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0005 | a0001c0001t0001g0065a0001c0001t0001g0108a0004c0005t0005g0018 | 3 | 318 | 0.0094 | 8 | c.376 others(25): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DZIP3_chr3_108584722_108699840 | 108622880 | C | CTCTCTGT others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03471.hp2 HG03540.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0104a0001c0001t0008g0020others(2): Show | 6 | 318 | 0.0189 | 8 | c.376 others(25): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DZIP3_chr3_108584722_108699840 | 108622880 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02486.hp2 HG02630.hp2 others(7): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0005t0005others(1): Show | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0204others(7): Show | 10 | 318 | 0.0315 | 8 | c.376 others(25): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DZIP3_chr3_108584722_108699840 | 108622880 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01943.hp1 HG01952.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0228a0001c0002t0001g0239a0001c0002t0001g0252others(3): Show | 6 | 318 | 0.0189 | 8 | c.376 others(25): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACACTC others(1): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02273.hp2 NA18959.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0133a0001c0001t0001g0168others(1): Show | 4 | 318 | 0.0126 | 8 | c.696 others(25): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DZIP3_chr3_108584722_108699840 | 108631055 | A | ACACTCTC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02165.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0154a0001c0001t0001g0162others(1): Show | 4 | 318 | 0.0126 | 8 | c.696 others(25): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DZIP3_chr3_108584722_108699840 | 108638317 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(313): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(308): Show | 316 | 318 | 0.9937 | 8 | c.106 others(25): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DZIP3_chr3_108584722_108699840 | 108653507 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01081.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0009a0004c0005t0005 | a0001c0001t0001g0150a0001c0001t0001g0275a0001c0001t0001g0277others(7): Show | 10 | 318 | 0.0315 | 8 | c.203 others(25): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 18/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| E2F2_chr1_23501438_23536233 | 23513562 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG02129.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0014a0001c0001t0002g0073a0001c0001t0002g0091others(1): Show | 5 | 396 | 0.0126 | 8 | c.104 others(27): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
| E2F2_chr1_23501438_23536233 | 23526851 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(84): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0009others(69): Show | 87 | 396 | 0.2197 | 8 | c.253 others(25): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
| E2F3_chr6_20396879_20498714 | 20424210 | G | GGTATGTG others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0108a0001c0001t0001g0308a0001c0001t0003g0151others(9): Show | 12 | 336 | 0.0357 | 8 | c.393 others(27): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| E2F3_chr6_20396879_20498714 | 20424210 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02257.hp1 HG04184.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0018a0001c0001t0001g0221a0001c0001t0001g0267others(2): Show | 5 | 336 | 0.0149 | 8 | c.393 others(27): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| E2F3_chr6_20396879_20498714 | 20466908 | C | CTGACCTC others(1): Show |
intron_variant | MODIFIER | HG03704.hp1 HG04199.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0059a0001c0001t0003g0152a0001c0001t0003g0270 | 3 | 336 | 0.0089 | 8 | c.394 others(27): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| E2F3_chr6_20396879_20498714 | 20472025 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01071.hp2 others(36): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0027a0001c0001t0001g0037others(36): Show | 39 | 336 | 0.1161 | 8 | c.394 others(25): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| E2F5_chr8_85172154_85219518 | 85180511 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01975.hp1 HG02129.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0166a0001c0002t0001g0226others(5): Show | 10 | 336 | 0.0298 | 8 | c.234 others(25): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| E2F6_chr2_11439375_11471161 | 11466855 | G | GCCTTCCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0031others(4): Show | 10 | 366 | 0.0273 | 8 | c.-97 others(17): Show |
E2F6 | ENSG00000169016.17 | transcript | ENST00000381525.8 | protein_coding | 695 | chr2 | TogoVar | |||||||
| E2F7_chr12_77016251_77070569 | 77068721 | T | TTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020 | a0001c0001t0001g0010a0001c0001t0001g0167a0001c0001t0001g0206others(3): Show | 9 | 394 | 0.0228 | 8 | c.-33 others(19): Show |
E2F7 | ENSG00000165891.16 | transcript | ENST00000322886.12 | protein_coding | 3153 | chr12 | TogoVar | |||||||
| EAF1_chr3_15422598_15447613 | 15442208 | G | GGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp2 NA18972.hp2 NA18999.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0032a0001c0001t0035a0001c0001t0037others(1): Show | a0001c0001t0032g0001a0001c0001t0035g0045a0001c0001t0037g0044others(1): Show | 5 | 418 | 0.0120 | 8 | c.*30 others(19): Show |
EAF1 | ENSG00000144597.14 | transcript | ENST00000396842.7 | protein_coding | 6/6 | 3082 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EAF2_chr3_121830209_121891526 | 121841504 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01169.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0114a0001c0001t0001g0156others(2): Show | 6 | 318 | 0.0189 | 8 | c.107 others(25): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| EAF2_chr3_121830209_121891526 | 121880455 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0108a0001c0001t0001g0166others(3): Show | 6 | 318 | 0.0189 | 8 | c.737 others(25): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| EAPP_chr14_34510938_34544701 | 34524653 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01168.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024a0001c0002t0001g0139a0001c0002t0001g0155 | 4 | 360 | 0.0111 | 8 | c.581 others(21): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 5/5 | chr14 | TogoVar |