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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EAF2_chr3_121830209_121891526 | 121840504 | AAAAAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(5): Show | 8 | 318 | 0.0252 | -5 | c.107 others(22): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EAF2_chr3_121830209_121891526 | 121873817 | TTTAGA | T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(84): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(62): Show | 87 | 318 | 0.2736 | -5 | c.736 others(22): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EAF2_chr3_121830209_121891526 | 121887349 | CTATTT | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG04204.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0231a0001c0002t0001g0010a0001c0002t0001g0120others(3): Show | 8 | 318 | 0.0252 | -5 | c.*96 others(14): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 824 | chr3 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34542793 | TAAATA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(165): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(138): Show | 168 | 360 | 0.4667 | -5 | c.-31 others(16): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 3093 | chr14 | TogoVar | ||||||
EARS2_chr16_23515754_23562350 | 23523986 | CTCTGT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0008a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(117): Show | 153 | 286 | 0.5350 | -5 | c.*38 others(14): Show |
EARS2 | ENSG00000103356.18 | transcript | ENST00000449606.7 | protein_coding | 9/9 | 380 | chr16 | TogoVar | |||||
EBAG9_chr8_109535173_109570996 | 109540531 | TCTTTC | T | intron_variant | MODIFIER | HG01934.hp2 HG02132.hp2 HG02293.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0206a0001c0001t0001g0207others(1): Show | 6 | 356 | 0.0169 | -5 | c.-16 others(18): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EBAG9_chr8_109535173_109570996 | 109557569 | CATGCT | C | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0049a0001c0001t0002g0194a0001c0001t0002g0195others(5): Show | 9 | 356 | 0.0253 | -5 | c.429 others(20): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 5/6 | chr8 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158700640 | AGATTC | A | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0184a0001c0001t0008g0185a0001c0001t0008g0186others(1): Show | 4 | 196 | 0.0204 | -5 | c.174 others(24): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 15/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158737266 | ATTTTT | A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00642.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(17): Show | a0001c0001t0002g0100a0001c0001t0002g0101a0001c0001t0005g0132others(23): Show | 26 | 196 | 0.1327 | -5 | c.103 others(24): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 10/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158852036 | TGGGGA | T | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00639.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(33): Show | a0001c0001t0001g0142a0001c0001t0002g0150a0001c0001t0002g0175others(56): Show | 59 | 196 | 0.3010 | -5 | c.555 others(24): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158852054 | GGAGGA | G | intron_variant | MODIFIER | HG01081.hp2 HG01515.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0002g0135a0001c0001t0008g0189a0001c0002t0001g0095others(1): Show | 4 | 196 | 0.0204 | -5 | c.555 others(24): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158856981 | AAAAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(14): Show | a0001c0001t0001g0116a0001c0001t0001g0127a0001c0001t0002g0100others(20): Show | 23 | 196 | 0.1174 | -5 | c.555 others(24): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158964677 | TCTGAG | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0136a0001c0001t0001g0147a0001c0001t0002g0121others(50): Show | 53 | 196 | 0.2704 | -5 | c.554 others(26): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158992917 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01261.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(12): Show | a0001c0001t0003g0105a0001c0001t0005g0132a0001c0001t0010g0082others(13): Show | 16 | 196 | 0.0816 | -5 | c.554 others(24): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159031178 | AAAAAG | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(13): Show | a0001c0001t0002g0100a0001c0001t0002g0121a0001c0001t0002g0155others(16): Show | 19 | 196 | 0.0969 | -5 | c.554 others(24): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 159099919 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0001t0039others(3): Show | a0001c0001t0001g0127a0001c0001t0018g0085a0001c0001t0039g0030others(3): Show | 6 | 196 | 0.0306 | -5 | c.-44 others(14): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 4 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25853722 | ATAACT | A | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0019a0001c0001t0036others(3): Show | a0001c0001t0003g0200a0001c0001t0019g0009a0001c0001t0036g0159others(4): Show | 7 | 220 | 0.0318 | -5 | c.152 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 14/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25866536 | ATATAT | A | intron_variant | MODIFIER | HG02004.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0114a0001c0001t0001g0121 | 3 | 220 | 0.0136 | -5 | c.101 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25866589 | TATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01081.hp2 others(32): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(9): Show | a0001c0001t0001g0019a0001c0001t0001g0039a0001c0001t0001g0048others(32): Show | 35 | 220 | 0.1591 | -5 | c.101 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25866631 | ATATAT | A | intron_variant | MODIFIER | HG00738.hp1 HG01891.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0037others(1): Show | a0001c0001t0002g0016a0001c0001t0002g0131a0001c0001t0002g0147others(3): Show | 6 | 220 | 0.0273 | -5 | c.101 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25907419 | CAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG03130.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0002a0001c0005t0001a0002c0003t0001others(2): Show | a0001c0001t0002g0033a0001c0001t0002g0052a0001c0005t0001g0034others(4): Show | 7 | 220 | 0.0318 | -5 | c.633 others(22): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 7/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25928782 | GAAAAA | G | intron_variant | MODIFIER | HG01256.hp1 HG02074.hp1 NA18953.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0107a0001c0001t0002g0056others(3): Show | 6 | 220 | 0.0273 | -5 | c.552 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25943329 | AAAAAG | A | intron_variant | MODIFIER | HG01106.hp2 NA18946.hp2 NA19003.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0031a0001c0001t0004g0059a0001c0001t0004g0075others(2): Show | 5 | 220 | 0.0227 | -5 | c.552 others(24): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26031426 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00738.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0148a0001c0001t0002g0022a0001c0001t0002g0131others(16): Show | 19 | 220 | 0.0864 | -5 | c.551 others(22): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26033745 | TTAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00738.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0148a0001c0001t0002g0022a0001c0001t0002g0131others(16): Show | 19 | 220 | 0.0864 | -5 | c.483 others(20): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 5/15 | chr8 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129872392 | CAAATT | C | intron_variant | MODIFIER | HG00438.hp1 HG02135.hp1 HG02145.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0091a0001c0001t0001g0141others(17): Show | 20 | 338 | 0.0592 | -5 | c.781 others(22): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 8/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129889946 | CTTTTT | C | intron_variant | MODIFIER | HG01175.hp2 HG01261.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0082a0001c0001t0001g0170a0001c0001t0001g0247others(4): Show | 7 | 338 | 0.0207 | -5 | c.555 others(24): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF4_chr20_2687780_2765108 | 2751797 | AGGGGC | A | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0159a0001c0005t0001g0160a0001c0005t0001g0163others(1): Show | 4 | 388 | 0.0103 | -5 | c.110 others(20): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EBI3_chr19_4224523_4242528 | 4232241 | AAAAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG02129.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095a0002c0002t0002g0104a0002c0002t0002g0106others(6): Show | 9 | 438 | 0.0206 | -5 | c.201 others(20): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EBNA1BP2_chr1_43159184_43177290 | 43160297 | AAAACT | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 24 | 392 | 0.0612 | -5 | c.*41 others(16): Show |
EBNA1BP2 | ENSG00000117395.13 | transcript | ENST00000236051.3 | protein_coding | 3886 | chr1 | TogoVar | ||||||
EBPL_chr13_49655674_49696486 | 49683542 | CAAACA | C | intron_variant | MODIFIER | HG02257.hp2 HG02896.hp1 HG02897.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0153a0001c0001t0001g0154others(4): Show | 8 | 410 | 0.0195 | -5 | c.171 others(22): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | ||||||
EBP_chrX_48516808_48533716 | 48519451 | GACACA | G | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0045 | 1 | 311 | 0.0032 | -5 | c.-25 others(16): Show |
EBP | ENSG00000147155.11 | transcript | ENST00000495186.6 | protein_coding | 2356 | chrX | TogoVar | ||||||
EBP_chrX_48516808_48533716 | 48530975 | TGGTAG | T | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0016 | 1 | 311 | 0.0032 | -5 | c.*25 others(16): Show |
EBP | ENSG00000147155.11 | transcript | ENST00000495186.6 | protein_coding | 2260 | chrX | TogoVar | ||||||
ECD_chr10_73128668_73173008 | 73157946 | ATTATT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(101): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0003a0002c0008others(5): Show | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(7): Show | a0002c0002t0002g0009a0002c0002t0002g0013a0002c0002t0002g0015others(86): Show | 104 | 272 | 0.3824 | -5 | c.324 others(22): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
ECD_chr10_73128668_73173008 | 73169159 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(100): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0003a0002c0008others(5): Show | a0002c0002t0002a0002c0002t0003a0002c0003t0002others(7): Show | a0002c0002t0002g0009a0002c0002t0002g0013a0002c0002t0002g0015others(85): Show | 103 | 272 | 0.3787 | -5 | c.-13 others(16): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 1152 | chr10 | TogoVar | ||||||
ECD_chr10_73128668_73173008 | 73170039 | TATTTA | T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01346.hp2 others(14): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0001c0001t0005a0002c0002t0003others(1): Show | a0001c0001t0001g0145a0001c0001t0005g0010a0001c0001t0005g0028others(12): Show | 17 | 272 | 0.0625 | -5 | c.-21 others(16): Show |
ECD | ENSG00000122882.11 | transcript | ENST00000372979.9 | protein_coding | 2032 | chr10 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21253034 | ATTATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(188): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0024others(181): Show | 191 | 304 | 0.6283 | -5 | c.102 others(24): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 8/18 | chr1 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21254068 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(33): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0143a0001c0001t0002g0114a0001c0001t0002g0165others(32): Show | 36 | 304 | 0.1184 | -5 | c.102 others(24): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 8/18 | chr1 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184272358 | AAGGGG | A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01261.hp2 HG01433.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0099a0001c0002t0001g0001a0002c0003t0002g0018others(7): Show | 16 | 398 | 0.0402 | -5 | c.-37 others(16): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 3663 | chr3 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184283561 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0032a0001c0001t0001g0097a0001c0001t0001g0102others(2): Show | 10 | 398 | 0.0251 | -5 | c.817 others(20): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ECE2_chr3_184271022_184298031 | 184296561 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(26): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0003a0001c0001t0009a0001c0002t0003others(3): Show | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0006others(18): Show | 29 | 398 | 0.0729 | -5 | c.*43 others(16): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 3531 | chr3 | TogoVar | ||||||
ECH1_chr19_38810422_38836794 | 38815423 | TCTTTA | T | splice_region_variant | LOW | HG02647.hp2 HG02717.hp2 HG03486.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0239a0002c0002t0002g0240a0002c0002t0002g0241others(2): Show | 5 | 420 | 0.0119 | -5 | c.*18 others(14): Show |
ECH1 | ENSG00000104823.9 | transcript | ENST00000221418.9 | protein_coding | 10/10 | chr19 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127305547 | GTCTTA | G | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(5): Show | 11 | 358 | 0.0307 | -5 | c.497 others(22): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHDC2_chr1_52890910_52926740 | 52908929 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009a0001c0001t0004g0152a0001c0001t0004g0158others(5): Show | 11 | 314 | 0.0350 | -5 | c.278 others(20): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
ECHDC2_chr1_52890910_52926740 | 52922096 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0017others(20): Show | 34 | 314 | 0.1083 | -5 | c.-42 others(14): Show |
ECHDC2 | ENSG00000121310.17 | transcript | ENST00000371522.9 | protein_coding | 357 | chr1 | TogoVar | ||||||
ECI1_chr16_2234402_2256587 | 2250261 | CAAAAA | C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0030a0001c0001t0001g0095a0001c0001t0001g0097others(5): Show | 9 | 436 | 0.0206 | -5 | c.166 others(22): Show |
ECI1 | ENSG00000167969.13 | transcript | ENST00000301729.9 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92528547 | ACAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(123): Show |
a0001a0006a0007others(1): Show | a0001c0002a0001c0008a0001c0009others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(9): Show | a0001c0002t0001g0127a0001c0002t0002g0011a0001c0002t0002g0012others(118): Show | 126 | 400 | 0.3150 | -5 | c.-27 others(22): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92533303 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG02698.hp1 HG02735.hp2 others(5): Show |
a0001 | a0001c0002a0001c0006a0001c0008 | a0001c0002t0002a0001c0006t0001a0001c0008t0002 | a0001c0002t0002g0174a0001c0002t0002g0185a0001c0006t0001g0010others(4): Show | 8 | 400 | 0.0200 | -5 | c.-28 others(22): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92537661 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015a0001c0002t0002g0102a0001c0002t0002g0181 | 4 | 400 | 0.0100 | -5 | c.-17 others(16): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1672 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111383945 | TAAATA | T | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334a0001c0001t0001g0335a0001c0001t0001g0336 | 3 | 354 | 0.0085 | -5 | c.368 others(22): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 34/49 | chr9 | TogoVar |