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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPSTI1_chr13_42881388_42997241 | 42965768 | T | TCGTCTCC others(20): Show |
intron_variant | MODIFIER | NA19064.hp2 NA19066.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0258 a0001c0001t0014g0273 a0001c0001t0014g0276 |
3 | 284 | 0.0106 | 27 | c.332 others(44): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42968954 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18945.hp2 NA19006.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0188 a0001c0002t0003g0295 a0001c0002t0007g0184 |
3 | 218 | 0.0138 | 27 | c.331 others(42): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
ERBB2_chr17_39695064_39733658 | 39724272 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 127 | 0.0079 | 27 | c.230 others(44): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211458087 | G | GTGATATA others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03834.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0016 a0001c0002t0001g0036 a0001c0002t0001g0048 |
3 | 55 | 0.0545 | 27 | c.248 others(48): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211673517 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0023others(3): Show | a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0023g0012 others(3): Show |
6 | 19 | 0.3158 | 27 | c.162 others(44): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211840307 | T | TGATTGTG others(20): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 56 | 0.0179 | 27 | c.422 others(46): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211934926 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0011a0001c0002t0013 | a0001c0001t0005g0015 a0001c0001t0011g0042 a0001c0002t0013g0027 |
3 | 22 | 0.1364 | 27 | c.421 others(46): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212206589 | C | CTTTTCTT others(20): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 21 | 0.0476 | 27 | c.83- others(44): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212206589 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02258.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0021 a0001c0001t0005g0015 a0001c0001t0006g0026 others(1): Show |
4 | 24 | 0.1667 | 27 | c.83- others(44): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212345265 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03195.hp2 HG03834.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0016 a0001c0001t0002g0025 a0001c0002t0001g0048 |
3 | 22 | 0.1364 | 27 | c.82+ others(46): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1138131 | A | ATATAATA others(20): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02970.hp1 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0001c0001t0051a0002c0002t0022 | a0001c0001t0018g0080 a0001c0001t0051g0079 a0002c0002t0022g0075 |
3 | 160 | 0.0188 | 27 | c.157 others(46): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1493546 | A | ATATATAT others(20): Show |
3_prime_UTR_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0073 | a0002c0002t0073g0052 | 1 | 80 | 0.0125 | 27 | c.*33 others(38): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3317 | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55691573 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0028 | 1 | 48 | 0.0208 | 27 | c.284 others(46): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 16/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55691573 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 48 | 0.0208 | 27 | c.284 others(46): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 16/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55828457 | T | TGGCAGCA others(20): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 others(25): Show |
28 | 67 | 0.4179 | 27 | c.256 others(48): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56186114 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0055 | 1 | 12 | 0.0833 | 27 | c.107 others(48): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
ERCC1_chr19_45402334_45428917 | 45410565 | T | TGTGTGTG others(20): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 114 | 0.0088 | 27 | c.844 others(42): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
ERCC6L2_chr9_95870691_96023447 | 95907836 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0003 | a0003c0003 | a0003c0003t0021 | a0003c0003t0021g0287 | 1 | 290 | 0.0034 | 27 | c.788 others(42): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914546 | T | TTCCCTCC others(20): Show |
intron_variant | MODIFIER | NA18964.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0151 |
2 | 303 | 0.0066 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914682 | C | CGTGTCTC others(20): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 317 | 0.0032 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914710 | A | ATCTCTGT others(20): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 257 | 0.0039 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914737 | A | ATCTCTGT others(20): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 249 | 0.0040 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914895 | T | TGTCTCTG others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03492.hp2 NA18951.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0151 a0001c0001t0003g0226 a0001c0001t0003g0231 others(1): Show |
4 | 126 | 0.0317 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914895 | T | TGTCTCTG others(20): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18981.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0003g0222 |
3 | 125 | 0.0240 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914929 | G | GTCTCTGT others(20): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 a0001c0001t0003g0198 |
2 | 328 | 0.0061 | 27 | c.-13 others(44): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172908329 | G | GGAGGTGG others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(78): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(78): Show |
81 | 293 | 0.2765 | 27 | c.156 others(44): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172918821 | C | CTCTGTCC others(20): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 332 | 0.0030 | 27 | c.375 others(44): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675142 | A | ACGCGGCG others(20): Show |
intron_variant | MODIFIER | HG03486.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0129 |
2 | 376 | 0.0053 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675598 | C | CGAGGACA others(20): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0251 | 1 | 357 | 0.0028 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675691 | A | ACGCGGCG others(20): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0307 | 1 | 341 | 0.0029 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 676008 | C | CGAGGACA others(20): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0296 | 1 | 367 | 0.0027 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 676228 | C | CGAGGACA others(20): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0306 | 1 | 358 | 0.0028 | 27 | c.305 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTG others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 a0001c0001t0002g0261 a0001c0001t0002g0266 others(2): Show |
5 | 136 | 0.0368 | 27 | c.169 others(44): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01515.hp1 NA19079.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0001 | a0001c0001t0002g0197 a0001c0001t0002g0403 a0004c0004t0001g0054 others(1): Show |
4 | 188 | 0.0213 | 27 | c.101 others(46): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ERICH6B_chr13_45536294_45620739 | 45577276 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0110 | 1 | 105 | 0.0095 | 27 | c.962 others(44): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 7/14 | chr13 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150703740 | C | CTCCTCCT others(20): Show |
disruptive_inframe_insertion | MODERATE | HG02809.hp1 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0022 | 1 | 211 | 0.0047 | 27 | c.158 others(34): Show |
p.Glu others(38): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 180/2021 | 158/1992 | 53/663 | chr3 | TogoVar | |||
ERMP1_chr9_5779572_5838117 | 5786080 | T | TCAGGAAA others(20): Show |
3_prime_UTR_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0230 | 1 | 376 | 0.0027 | 27 | c.*10 others(38): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 15/15 | 1063 | chr9 | TogoVar | ||||||
ERN2_chr16_23685310_23718222 | 23716948 | G | GGAGGTTG others(20): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0312 | 1 | 410 | 0.0024 | 27 | c.-37 others(38): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 3727 | chr16 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100063075 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01071.hp2 HG01167.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0134 others(9): Show |
12 | 78 | 0.1538 | 27 | c.58- others(42): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100063092 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 214 | 0.0047 | 27 | c.58- others(42): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ERVV-2_chr19_53039740_53056680 | 53044536 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0008 | a0001c0008t0014 | a0001c0008t0014g0025 | 1 | 93 | 0.0108 | 27 | c.-80 others(36): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 203 | chr19 | TogoVar | |||||||
ESR1_chr6_151802682_152108274 | 151849994 | A | ATATAATT others(20): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18963.hp1 NA18965.hp1 |
a0002 | a0002c0009 | a0002c0009t0002a0002c0009t0003a0002c0009t0006 | a0002c0009t0002g0201 a0002c0009t0003g0198 a0002c0009t0006g0200 |
3 | 216 | 0.0139 | 27 | c.643 others(44): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 HG03209.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0140 a0001c0007t0001g0344 a0001c0007t0001g0346 |
3 | 245 | 0.0122 | 27 | c.-47 others(38): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94682932 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 | 1 | 173 | 0.0058 | 27 | c.182 others(46): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94689811 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0339 | 1 | 76 | 0.0132 | 27 | c.182 others(46): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216682741 | T | TGTGTGTG others(20): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0184 | 1 | 283 | 0.0035 | 27 | c.57- others(42): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ESX1_chrX_104245038_104259933 | 104250317 | T | TGGGTGGC others(20): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp1 HG02145.hp1 HG02559.hp2 others(6): Show |
a0002a0009 | a0002c0007a0009c0013 | a0002c0007t0002a0009c0013t0002 | a0002c0007t0002g0008 a0009c0013t0002g0019 |
9 | 208 | 0.0433 | 27 | c.113 others(36): Show |
p.Pro others(40): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1215/1495 | 1131/1221 | 377/406 | chrX | TogoVar | |||
ESX1_chrX_104245038_104259933 | 104250317 | T | TGGGTGGC others(20): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 HG00735.hp1 HG01074.hp1 others(77): Show |
a0002a0020a0022 | a0002c0002a0020c0029a0022c0020 | a0002c0002t0001a0020c0029t0001a0022c0020t0001 | a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0012 others(8): Show |
80 | 279 | 0.2867 | 27 | c.110 others(36): Show |
p.Pro others(40): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1215/1495 | 1131/1221 | 377/406 | chrX | TogoVar | |||
ESX1_chrX_104245038_104259933 | 104250409 | G | GGCGCCAT others(20): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 HG00639.hp1 HG01192.hp1 others(14): Show |
a0006a0009a0012 | a0006c0006a0006c0010a0009c0013others(1): Show | a0006c0006t0001a0006c0006t0004a0006c0010t0002others(2): Show | a0006c0006t0001g0007 a0006c0006t0001g0028 a0006c0006t0004g0055 others(4): Show |
17 | 212 | 0.0802 | 27 | c.101 others(36): Show |
p.Arg others(13): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1123/1495 | 1039/1221 | 347/406 | chrX | TogoVar | |||
ESYT2_chr7_158725997_158834509 | 158729635 | A | ATGGAGGT others(20): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0019 | a0001c0019t0033 | a0001c0019t0033g0226 | 1 | 244 | 0.0041 | 27 | c.*45 others(38): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1361 | chr7 | TogoVar |