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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFHB_chr3_19874472_19939217 | 19926141 | CCCAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(20): Show |
a0002a0006a0013 | a0002c0009a0002c0010a0006c0027others(1): Show | a0002c0009t0002a0002c0010t0002a0006c0027t0002others(1): Show | a0002c0009t0002g0016a0002c0009t0002g0315a0002c0009t0002g0316others(18): Show | 23 | 344 | 0.0669 | -6 | c.790 others(23): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52481504 | ATCTCTC | A | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG01891.hp2 others(52): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(20): Show | a0001c0001t0002g0272a0001c0001t0005g0003a0001c0001t0005g0006others(44): Show | 55 | 396 | 0.1389 | -6 | c.164 others(25): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC2_chrX_44142872_44348672 | 44152725 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(35): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0074a0001c0001t0001g0194a0001c0001t0002g0064others(35): Show | 38 | 221 | 0.1720 | -6 | c.214 others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44178129 | TCACACA | T | intron_variant | MODIFIER | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | 221 | 0.0679 | -6 | c.194 others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44187513 | GTCTGTA | G | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0004a0006c0007t0002 | a0001c0001t0001g0085a0001c0001t0004g0105a0006c0007t0002g0025others(2): Show | 5 | 221 | 0.0226 | -6 | c.175 others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44209019 | CTGTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG01069.hp1 others(17): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0004a0005c0005t0001 | a0001c0001t0001g0052a0001c0001t0001g0065a0001c0001t0001g0068others(17): Show | 20 | 221 | 0.0905 | -6 | c.175 others(27): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44226896 | AAAAAAG | A | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp2 HG03130.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0002g0038a0001c0001t0007g0115a0001c0001t0011g0011others(3): Show | 6 | 221 | 0.0272 | -6 | c.175 others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44265020 | CTCATCT | C | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(56): Show | 59 | 221 | 0.2670 | -6 | c.383 others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44280030 | TACACAC | T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0030 | 1 | 221 | 0.0045 | -6 | c.232 others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44294249 | CGTGTGT | C | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01169.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0087a0001c0001t0002g0081a0001c0001t0002g0107others(8): Show | 11 | 221 | 0.0498 | -6 | c.231 others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44330085 | CAAAAAA | C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 221 | 0.0045 | -6 | c.42+ others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232644196 | GCCTCAC | G | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02451.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0005a0001c0001t0008a0001c0006t0005others(1): Show | a0001c0001t0005g0286a0001c0001t0008g0285a0001c0001t0008g0287others(3): Show | 6 | 382 | 0.0157 | -6 | c.302 others(25): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD1_chr2_232628604_232687776 | 232661152 | AAAAAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(98): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0077a0001c0001t0001g0308a0001c0001t0002g0013others(96): Show | 101 | 382 | 0.2644 | -6 | c.303 others(23): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD1_chr2_232628604_232687776 | 232677207 | TACACAC | T | intron_variant | MODIFIER | HG01975.hp1 HG01981.hp1 HG02056.hp2 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0005a0002c0002t0017others(1): Show | a0002c0002t0001g0206a0002c0002t0001g0342a0002c0002t0005g0284others(4): Show | 7 | 382 | 0.0183 | -6 | c.586 others(23): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFL1_chr15_82125233_82267734 | 82185169 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0319a0001c0003t0001g0213a0001c0005t0001g0059others(24): Show | 27 | 368 | 0.0734 | -6 | c.175 others(27): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFNA1_chr1_155122876_155139899 | 155129513 | CCACACA | C | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02572.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009a0001c0001t0001g0061a0001c0001t0002g0009others(2): Show | 15 | 350 | 0.0429 | -6 | c.92+ others(21): Show |
EFNA1 | ENSG00000169242.12 | transcript | ENST00000368407.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107375858 | ATTAACT | A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019a0001c0001t0059others(1): Show | a0001c0001t0018g0064a0001c0001t0018g0110a0001c0001t0019g0132others(3): Show | 6 | 190 | 0.0316 | -6 | c.*53 others(17): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1035 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107376827 | AGAGTAC | A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0041a0001c0001t0046others(5): Show | a0001c0001t0040g0186a0001c0001t0041g0172a0001c0001t0046g0037others(5): Show | 8 | 190 | 0.0421 | -6 | c.*44 others(17): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 66 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107380373 | TTAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0086others(3): Show | a0001c0001t0002g0018a0001c0001t0002g0022a0001c0001t0002g0029others(18): Show | 21 | 190 | 0.1105 | -6 | c.*87 others(15): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 5/5 | 876 | chr5 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107380374 | TAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01192.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013a0001c0001t0031others(4): Show | a0001c0001t0012g0061a0001c0001t0012g0079a0001c0001t0012g0178others(8): Show | 11 | 190 | 0.0579 | -6 | c.*87 others(15): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 5/5 | 875 | chr5 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107408892 | AAAGAGT | A | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00621.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0135a0001c0001t0001g0139a0001c0001t0002g0018others(34): Show | 37 | 190 | 0.1947 | -6 | c.418 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107430770 | CTTTCTT | C | intron_variant | MODIFIER | HG01255.hp2 HG02258.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0012others(4): Show | a0001c0001t0005g0065a0001c0001t0005g0147a0001c0001t0007g0146others(6): Show | 9 | 190 | 0.0474 | -6 | c.126 others(23): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107447300 | TAACTTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0090a0001c0001t0002g0018others(18): Show | 21 | 190 | 0.1105 | -6 | c.126 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107453938 | GGAGTGT | G | intron_variant | MODIFIER | HG02922.hp2 HG03486.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0062a0001c0001t0097 | a0001c0001t0028g0087a0001c0001t0062g0170a0001c0001t0097g0027 | 3 | 190 | 0.0158 | -6 | c.126 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107459430 | CAGAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0037 | a0001c0001t0019g0145a0001c0001t0037g0129 | 2 | 190 | 0.0105 | -6 | c.126 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107476735 | TTCTCTC | T | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0098 | a0001c0001t0028g0087a0001c0001t0098g0084 | 2 | 190 | 0.0105 | -6 | c.126 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107482870 | CTATATA | C | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0051a0001c0001t0059others(1): Show | a0001c0001t0011g0173a0001c0001t0051g0025a0001c0001t0059g0109others(1): Show | 4 | 190 | 0.0211 | -6 | c.126 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107496164 | TAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0139a0001c0001t0003g0179a0001c0001t0004g0072others(12): Show | 15 | 190 | 0.0790 | -6 | c.126 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107497618 | GCAACTT | G | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(12): Show | a0001c0001t0003g0130a0001c0001t0012g0061a0001c0001t0013g0008others(14): Show | 17 | 190 | 0.0895 | -6 | c.126 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107509485 | ATTTTTT | A | intron_variant | MODIFIER | HG01496.hp2 HG02723.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0018a0001c0001t0030others(2): Show | a0001c0001t0011g0173a0001c0001t0018g0110a0001c0001t0030g0159others(2): Show | 5 | 190 | 0.0263 | -6 | c.126 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107512364 | AAACAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0090a0001c0001t0001g0135a0001c0001t0001g0139others(24): Show | 27 | 190 | 0.1421 | -6 | c.126 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107554837 | TGCCCGA | T | intron_variant | MODIFIER | HG00642.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0098a0001c0001t0027g0117 | 2 | 190 | 0.0105 | -6 | c.125 others(27): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107591941 | TATTATA | T | intron_variant | MODIFIER | HG02965.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0042 | a0001c0001t0006g0033a0001c0001t0042g0007 | 2 | 190 | 0.0105 | -6 | c.125 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107592020 | AATATAT | A | intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0034 | a0001c0001t0018g0110a0001c0001t0034g0131 | 2 | 190 | 0.0105 | -6 | c.125 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107606538 | AACACAC | A | intron_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0003g0066others(15): Show | 18 | 190 | 0.0947 | -6 | c.125 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107643871 | TTAATAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0090a0001c0001t0001g0124a0001c0001t0002g0069others(29): Show | 32 | 190 | 0.1684 | -6 | c.125 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107660261 | CATATAT | C | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp2 HG01255.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017a0001c0001t0020others(1): Show | a0001c0001t0007g0119a0001c0001t0017g0156a0001c0001t0020g0149others(1): Show | 4 | 190 | 0.0211 | -6 | c.125 others(25): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107672506 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0074a0001c0001t0001g0098a0001c0001t0001g0133others(17): Show | 20 | 190 | 0.1053 | -6 | c.-18 others(17): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1570 | chr5 | TogoVar | ||||||
EFNB1_chrX_68824021_68847160 | 68838168 | TGTGTGC | T | intron_variant | MODIFIER | HG01255.hp1 HG02886.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0047a0002c0002t0001g0106 | 3 | 335 | 0.0090 | -6 | c.129 others(21): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EFNB1_chrX_68824021_68847160 | 68838172 | TGCGCGC | T | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp2 HG01074.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0037a0001c0001t0002g0006a0001c0001t0002g0021others(13): Show | 22 | 335 | 0.0657 | -6 | c.129 others(21): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EFNB2_chr13_106484745_106540662 | 106486485 | CACACAT | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG01943.hp1 HG02280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0002g0284a0001c0001t0003g0172a0001c0001t0006g0012others(10): Show | 16 | 356 | 0.0449 | -6 | c.*65 others(17): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 3259 | chr13 | TogoVar | ||||||
EFNB2_chr13_106484745_106540662 | 106509627 | CTGTGTG | C | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG01074.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0183a0001c0001t0001g0194others(40): Show | 47 | 356 | 0.1320 | -6 | c.406 others(23): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EFNB2_chr13_106484745_106540662 | 106532073 | AAAAACC | A | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01070.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0112a0001c0001t0003g0113a0001c0001t0003g0115others(52): Show | 59 | 356 | 0.1657 | -6 | c.122 others(23): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EFNB2_chr13_106484745_106540662 | 106536219 | CTCAGTT | C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02080.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0220a0001c0001t0001g0221a0001c0001t0002g0022others(15): Show | 19 | 356 | 0.0534 | -6 | c.-12 others(17): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 558 | chr13 | TogoVar | ||||||
EFNB2_chr13_106484745_106540662 | 106540314 | CGGGGGT | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00733.hp1 others(46): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0185others(44): Show | 49 | 356 | 0.1376 | -6 | c.-53 others(17): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 4653 | chr13 | TogoVar | ||||||
EFNB3_chr17_7700202_7716372 | 7714130 | TGTGTGC | T | downstream_gene_variant | MODIFIER | HG02257.hp1 HG03516.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 3 | 434 | 0.0069 | -6 | c.*45 others(17): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 2759 | chr17 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132010405 | GAGATAT | G | intron_variant | MODIFIER | HG00673.hp1 NA18952.hp1 NA18986.hp1 others(5): Show |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0001a0011c0013t0001 | a0001c0001t0001g0011a0001c0001t0001g0101a0001c0001t0001g0110others(4): Show | 8 | 412 | 0.0194 | -6 | c.236 others(23): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 132010407 | GATATAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00639.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0023a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0023g0143a0002c0002t0001g0034a0002c0002t0002g0004others(46): Show | 53 | 412 | 0.1286 | -6 | c.236 others(23): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 132013992 | ATATATG | A | downstream_gene_variant | MODIFIER | HG02738.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012a0001c0001t0006g0144a0001c0001t0006g0146 | 4 | 412 | 0.0097 | -6 | c.*30 others(17): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 351 | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25041238 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0003g0086a0001c0001t0005g0196a0001c0001t0005g0207others(5): Show | 8 | 306 | 0.0261 | -6 | c.-10 others(17): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 837 | chr2 | TogoVar |