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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFHB_chr3_19874472_19939217 | 19908554 | A | AGAGAGAG others(6): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 | 1 | 344 | 0.0029 | 13 | c.128 others(32): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19908594 | G | GAAGAAAG others(6): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 344 | 0.0029 | 13 | c.128 others(32): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHD1_chr2_232628604_232687776 | 232629122 | A | AGCAGAGA others(6): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0211 | 1 | 382 | 0.0026 | 13 | c.-45 others(24): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 4481 | chr2 | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1282650 | G | GGAGGAGG others(6): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0005 | 1 | 294 | 0.0034 | 13 | c.-35 others(24): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3222 | chr19 | TogoVar | |||||||
EFNA3_chr1_155073837_155092538 | 155082812 | T | TGTGGCAT others(6): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 334 | 0.0030 | 13 | c.129 others(30): Show |
EFNA3 | ENSG00000143590.14 | transcript | ENST00000368408.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107395034 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00609.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0002g0069 others(37): Show |
40 | 190 | 0.2105 | 13 | c.419 others(30): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107448866 | T | TAAATAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0089 | a0001c0001t0019g0145 a0001c0001t0089g0030 |
2 | 190 | 0.0105 | 13 | c.126 others(32): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNB2_chr13_106484745_106540662 | 106540314 | C | CGGGGGGG others(6): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0133 | 1 | 356 | 0.0028 | 13 | c.-53 others(24): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 4653 | chr13 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 131952405 | T | TAGCTATA others(6): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0326 a0002c0002t0002g0327 |
2 | 412 | 0.0049 | 13 | c.489 others(30): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 5/22 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132007309 | G | GGGTATTC others(6): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0384 | 1 | 412 | 0.0024 | 13 | c.236 others(32): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132013969 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG03516.hp1 |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0095 a0003c0004t0008g0096 |
2 | 412 | 0.0049 | 13 | c.*30 others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 328 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013975 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0178 |
2 | 412 | 0.0049 | 13 | c.*30 others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 334 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 412 | 0.0024 | 13 | c.*30 others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAAAAAAT others(6): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 412 | 0.0024 | 13 | c.*30 others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAAAATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 HG03654.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0001t0001g0215 |
3 | 412 | 0.0073 | 13 | c.*30 others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01358.hp2 HG02135.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0012a0004c0005t0001 | a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0090 others(6): Show |
9 | 412 | 0.0218 | 13 | c.*30 others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01934.hp2 HG03831.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0187 others(3): Show |
6 | 412 | 0.0146 | 13 | c.*30 others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25041966 | G | GAGGGCGG others(6): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 NA19066.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0244 a0001c0002t0001g0246 |
2 | 306 | 0.0065 | 13 | c.-34 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 109 | chr2 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25041966 | G | GGGGGCGG others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(295): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 others(295): Show |
298 | 306 | 0.9739 | 13 | c.-34 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 109 | chr2 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25046506 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0071 | 1 | 306 | 0.0033 | 13 | c.7+4 others(26): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13586166 | T | TATCATTA others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(223): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0005others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0023 others(218): Show |
226 | 302 | 0.7483 | 13 | c.75- others(28): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13623377 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02155.hp2 others(20): Show |
a0001a0002a0007 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0005a0001c0008t0001a0002c0002t0004others(5): Show | a0001c0001t0005g0045 a0001c0008t0001g0173 a0002c0002t0004g0020 others(19): Show |
23 | 302 | 0.0762 | 13 | c.118 others(30): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55027991 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 NA18964.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0009a0002c0002t0004 | a0001c0007t0009g0022 a0002c0002t0004g0056 |
2 | 250 | 0.0080 | 13 | c.88+ others(28): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | chr7 | TogoVar | |||||||
EGFR_chr7_55014017_55216628 | 55087273 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03704.hp1 HG04199.hp2 NA18946.hp1 others(1): Show |
a0001a0002 | a0001c0016a0002c0009a0002c0017others(1): Show | a0001c0016t0001a0002c0009t0007a0002c0017t0007others(1): Show | a0001c0016t0001g0055 a0002c0009t0007g0109 a0002c0017t0007g0190 others(1): Show |
4 | 250 | 0.0160 | 13 | c.89- others(30): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55196178 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(90): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0002g0034 others(89): Show |
93 | 250 | 0.3720 | 13 | c.270 others(32): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109924523 | G | GACATCAC others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03516.hp2 others(1): Show |
a0001a0020 | a0001c0001a0020c0030 | a0001c0001t0014a0001c0001t0018a0001c0001t0033others(1): Show | a0001c0001t0014g0232 a0001c0001t0018g0234 a0001c0001t0033g0240 others(1): Show |
4 | 388 | 0.0103 | 13 | c.127 others(32): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109970824 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02809.hp2 HG02965.hp1 |
a0015a0019 | a0015c0018a0019c0036 | a0015c0018t0017a0019c0036t0020 | a0015c0018t0017g0058 a0015c0018t0017g0117 a0019c0036t0020g0375 |
3 | 388 | 0.0077 | 13 | c.172 others(32): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGR3_chr8_22682659_22698480 | 22685400 | G | GTGTGTGT others(6): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG02056.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0003 a0001c0002t0005g0007 |
2 | 374 | 0.0054 | 13 | c.*50 others(24): Show |
EGR3 | ENSG00000179388.9 | transcript | ENST00000317216.3 | protein_coding | 2258 | chr8 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62842094 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0197 | 1 | 198 | 0.0051 | 13 | c.634 others(32): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62894927 | A | AGAGAGAG others(6): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 198 | 0.0051 | 13 | c.118 others(34): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62957641 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 198 | 0.0051 | 13 | c.246 others(32): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47731279 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0297 | 1 | 398 | 0.0025 | 13 | c.915 others(30): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47733751 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(54): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0021a0001c0002t0002others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0053 others(54): Show |
57 | 398 | 0.1432 | 13 | c.916 others(30): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31243460 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0063 | a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0063g0204 |
3 | 378 | 0.0079 | 13 | c.228 others(28): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31245553 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0044 | a0001c0001t0028g0211 a0001c0001t0044g0196 |
2 | 378 | 0.0053 | 13 | c.404 others(30): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41942817 | T | TGTTTACC others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(222): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(213): Show |
225 | 360 | 0.6250 | 13 | c.511 others(28): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185194800 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00735.hp1 others(28): Show |
a0001 | a0001c0001a0001c0013a0001c0018 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0073 a0001c0001t0001g0093 others(26): Show |
31 | 348 | 0.0891 | 13 | c.911 others(30): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 6/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 348 | 0.0029 | 13 | c.463 others(30): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01192.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0143 a0001c0001t0001g0172 a0001c0001t0001g0189 others(3): Show |
6 | 348 | 0.0172 | 13 | c.463 others(30): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01106.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 others(18): Show |
21 | 348 | 0.0603 | 13 | c.463 others(30): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18945.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0209 a0001c0001t0001g0210 others(1): Show |
4 | 348 | 0.0115 | 13 | c.463 others(30): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 348 | 0.0029 | 13 | c.463 others(30): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 348 | 0.0029 | 13 | c.463 others(30): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EID2B_chr19_39525987_39537852 | 39529270 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 418 | 0.0024 | 13 | c.*30 others(24): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 1716 | chr19 | TogoVar | |||||||
EID2B_chr19_39525987_39537852 | 39529272 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 NA18946.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0006 | a0001c0001t0002g0000 a0001c0003t0006g0000 |
2 | 418 | 0.0048 | 13 | c.*30 others(24): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 1714 | chr19 | TogoVar | |||||||
EID3_chr12_104298739_104310205 | 104302486 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03654.hp2 HG03688.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0000 a0001c0002t0004g0000 |
7 | 418 | 0.0168 | 13 | c.-14 others(24): Show |
EID3 | ENSG00000255150.2 | transcript | ENST00000527879.2 | protein_coding | 1252 | chr12 | TogoVar | |||||||
EIF1AX_chrX_20119525_20146838 | 20122369 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG01934.hp1 HG01943.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(10): Show |
14 | 278 | 0.0504 | 13 | c.*59 others(24): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 2155 | chrX | TogoVar | |||||||
EIF1_chr17_41683885_41697668 | 41697433 | A | ATACACTA others(6): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 13 | c.*66 others(24): Show |
EIF1 | ENSG00000173812.11 | transcript | ENST00000469257.2 | protein_coding | 4766 | chr17 | TogoVar | |||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02293.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 a0001c0001t0003g0134 |
2 | 418 | 0.0048 | 13 | c.119 others(30): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 418 | 0.0024 | 13 | c.119 others(30): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar |