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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENPP6_chr4_184083706_184222873 | 184122404 | A | ACACCACC others(8): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp2 HG03239.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0013a0002c0012 | a0001c0002t0013a0001c0013t0003a0002c0012t0001 | a0001c0002t0013g0021 a0001c0002t0013g0043 a0001c0013t0003g0126 others(1): Show |
4 | 320 | 0.0125 | 15 | c.533 others(32): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 3/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184220452 | A | AGAAGGGA others(8): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 320 | 0.0031 | 15 | c.-26 others(26): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2580 | chr4 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79743391 | G | GTGCCGGC others(8): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0051 | 1 | 430 | 0.0023 | 15 | c.*16 others(26): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1173 | chr17 | TogoVar | |||||||
ENTHD1_chr22_39738044_39898760 | 39766019 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 218 | 0.0046 | 15 | c.833 others(30): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
ENTHD1_chr22_39738044_39898760 | 39814295 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0002g0162 others(1): Show |
4 | 218 | 0.0184 | 15 | c.832 others(32): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
ENTPD1_chr10_95751163_95882266 | 95758002 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0202 | 1 | 340 | 0.0029 | 15 | c.16+ others(30): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD1_chr10_95751163_95882266 | 95760814 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0137 a0001c0001t0006g0138 |
2 | 340 | 0.0059 | 15 | c.16+ others(30): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD4_chr8_23424162_23462647 | 23427124 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01071.hp1 others(19): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0019others(6): Show | a0001c0001t0007g0010 a0001c0001t0007g0070 a0001c0001t0008g0011 others(9): Show |
22 | 412 | 0.0534 | 15 | c.*57 others(26): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 2037 | chr8 | TogoVar | |||||||
ENTPD5_chr14_73958230_74024288 | 73995585 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03239.hp1 HG03834.hp2 others(6): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0002t0009a0001c0007t0009 | a0001c0002t0002g0242 a0001c0002t0002g0287 a0001c0002t0002g0298 others(6): Show |
9 | 380 | 0.0237 | 15 | c.-70 others(32): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | |||||||
ENTPD5_chr14_73958230_74024288 | 74005364 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(177): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(170): Show |
180 | 380 | 0.4737 | 15 | c.-71 others(32): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | |||||||
ENTREP1_chr9_69320215_69397456 | 69351388 | T | TTGATGAT others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01361.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 others(6): Show |
9 | 342 | 0.0263 | 15 | c.471 others(34): Show |
ENTREP1 | ENSG00000135063.20 | transcript | ENST00000303068.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29264154 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0008a0001c0010others(9): Show | a0001c0002t0004a0001c0008t0036a0001c0010t0001others(13): Show | a0001c0002t0004g0002 a0001c0008t0036g0045 a0001c0010t0001g0088 others(14): Show |
17 | 125 | 0.1360 | 15 | c.277 others(34): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29377823 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01109.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0069 a0001c0001t0002g0099 a0001c0002t0001g0041 others(7): Show |
10 | 125 | 0.0800 | 15 | c.276 others(32): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29444170 | C | CAGACACG others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03579.hp2 |
a0001a0003 | a0001c0008a0003c0007 | a0001c0008t0007a0003c0007t0002 | a0001c0008t0007g0115 a0003c0007t0002g0087 |
2 | 125 | 0.0160 | 15 | c.220 others(34): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29570011 | A | AAACCCGA others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02280.hp1 others(1): Show |
a0002a0003a0007 | a0002c0004a0003c0006a0003c0014others(1): Show | a0002c0004t0037a0003c0006t0046a0003c0014t0002others(1): Show | a0002c0004t0037g0066 a0003c0006t0046g0037 a0003c0014t0002g0067 others(1): Show |
4 | 125 | 0.0320 | 15 | c.219 others(30): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 395 | 0.0051 | 15 | c.622 others(30): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 395 | 0.0025 | 15 | c.622 others(30): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252723 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01099.hp1 HG01167.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0194 others(4): Show |
7 | 395 | 0.0177 | 15 | c.622 others(30): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
EOGT_chr3_68970225_69018684 | 69007507 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03831.hp1 HG03942.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0047a0001c0002t0001 | a0001c0001t0001g0056 a0001c0001t0047g0206 a0001c0002t0001g0273 |
3 | 444 | 0.0068 | 15 | c.420 others(30): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 15 | c.*57 others(26): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATAT others(8): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0012 | 1 | 400 | 0.0025 | 15 | c.*57 others(26): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711317 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 NA18986.hp2 NA18992.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0007c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0007c0005t0001g0036 |
4 | 400 | 0.0100 | 15 | c.*57 others(26): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4635 | chr3 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41088007 | A | AAAAAGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02257.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0006t0007 | a0001c0001t0002g0213 a0001c0001t0003g0278 a0001c0001t0003g0279 others(2): Show |
5 | 300 | 0.0167 | 15 | c.-49 others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4584 | chr22 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41089698 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0046 | 1 | 300 | 0.0033 | 15 | c.-33 others(26): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2893 | chr22 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41110282 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0005 | 1 | 300 | 0.0033 | 15 | c.95- others(30): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41154376 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00733.hp2 others(5): Show |
a0002 | a0002c0003a0002c0029a0002c0031 | a0002c0003t0001a0002c0003t0013a0002c0029t0001others(1): Show | a0002c0003t0001g0149 a0002c0003t0001g0157 a0002c0003t0001g0158 others(5): Show |
8 | 300 | 0.0267 | 15 | c.314 others(32): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 132073459 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02630.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0068a0002c0001a0002c0022others(3): Show | a0001c0068t0001a0002c0001t0003a0002c0022t0003others(3): Show | a0001c0068t0001g0073 a0002c0001t0003g0130 a0002c0022t0003g0131 others(3): Show |
6 | 208 | 0.0289 | 15 | c.902 others(34): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EPAS1_chr2_46292407_46391697 | 46359257 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(64): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0049 others(63): Show |
67 | 326 | 0.2055 | 15 | c.455 others(32): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPAS1_chr2_46292407_46391697 | 46363017 | G | GTGGTGGT others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0186 | 1 | 326 | 0.0031 | 15 | c.779 others(32): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130892403 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01081.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0143 others(22): Show |
25 | 356 | 0.0702 | 15 | c.148 others(34): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 10/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130954040 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01496.hp2 others(12): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0165 others(12): Show |
15 | 356 | 0.0421 | 15 | c.705 others(32): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130972937 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02080.hp2 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0183 a0001c0001t0003g0199 a0001c0001t0003g0204 others(1): Show |
4 | 356 | 0.0112 | 15 | c.-14 others(34): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5488579 | G | GATAATAA others(8): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02165.hp2 HG03041.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0001a0001c0001t0013a0001c0002t0002others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0179 a0001c0001t0001g0180 others(6): Show |
9 | 222 | 0.0405 | 15 | c.183 others(30): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112346215 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0056 | 1 | 228 | 0.0044 | 15 | c.100 others(34): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112408675 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0009 | a0009c0030 | a0009c0030t0001 | a0009c0030t0001g0188 | 1 | 228 | 0.0044 | 15 | c.99+ others(32): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4B_chr9_109166974_109326059 | 109288722 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01884.hp1 HG02129.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0022a0002c0003t0007 | a0001c0002t0022g0074 a0002c0003t0007g0265 a0002c0003t0007g0266 |
3 | 318 | 0.0094 | 15 | c.307 others(32): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
EPB41L5_chr2_120008077_120184119 | 120069128 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0094 |
2 | 278 | 0.0072 | 15 | c.286 others(32): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41L5_chr2_120008077_120184119 | 120098156 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 | 1 | 278 | 0.0036 | 15 | c.117 others(34): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | chr2 | TogoVar | |||||||
EPB41_chr1_28909569_29125041 | 28934666 | T | TTTGTGTG others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02135.hp2 HG02683.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0008 | a0001c0001t0001a0001c0004t0009a0004c0008t0001 | a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 others(5): Show |
8 | 312 | 0.0256 | 15 | c.-8+ others(32): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935441 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 312 | 0.0032 | 15 | c.-8+ others(32): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 312 | 0.0032 | 15 | c.-8+ others(32): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935468 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 312 | 0.0032 | 15 | c.-8+ others(32): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
EPB41_chr1_28909569_29125041 | 28966732 | G | GGTAGTCT others(8): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 312 | 0.0032 | 15 | c.-7- others(32): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 29047253 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0134 | 1 | 312 | 0.0032 | 15 | c.163 others(34): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPC1_chr10_32262751_32352158 | 32290483 | C | CTCAAAAA others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0059 | 1 | 318 | 0.0031 | 15 | c.975 others(30): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
EPC2_chr2_148639751_148792569 | 148775658 | A | AAATTAAA others(8): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 |
3 | 308 | 0.0097 | 15 | c.172 others(34): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPC2_chr2_148639751_148792569 | 148775730 | T | TTTATTAA others(8): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 308 | 0.0033 | 15 | c.172 others(34): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPCAM_chr2_47364311_47392020 | 47368413 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0343 | 1 | 450 | 0.0022 | 15 | c.-10 others(26): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 897 | chr2 | TogoVar | |||||||
EPDR1_chr7_37915640_37956936 | 37937985 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02698.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0015 | a0001c0001t0001g0085 a0001c0002t0015g0158 a0001c0002t0015g0163 |
3 | 448 | 0.0067 | 15 | c.270 others(34): Show |
EPDR1 | ENSG00000086289.13 | transcript | ENST00000199448.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EPHA10_chr1_37710976_37770120 | 37713458 | G | GTAATAAT others(8): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02896.hp1 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0188 a0004c0003t0003g0190 a0004c0003t0003g0192 |
3 | 382 | 0.0079 | 15 | c.*49 others(26): Show |
EPHA10 | ENSG00000183317.17 | transcript | ENST00000373048.9 | protein_coding | 2517 | chr1 | TogoVar |