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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELL2_chr5_95880098_95966851 | 95936729 | AGTAAGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(101): Show |
a0002a0003 | a0002c0002a0002c0008a0003c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(9): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0053others(98): Show | 104 | 314 | 0.3312 | -6 | c.195 others(23): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95950896 | ATGTATG | A | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG02818.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0007a0002c0002t0001a0002c0002t0006others(2): Show | a0001c0003t0007g0018a0002c0002t0001g0020a0002c0002t0001g0121others(5): Show | 8 | 314 | 0.0255 | -6 | c.148 others(23): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95950904 | GTATATA | G | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00735.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0012t0002others(1): Show | a0001c0001t0002g0217a0001c0001t0002g0244a0001c0001t0002g0245others(8): Show | 12 | 314 | 0.0382 | -6 | c.148 others(23): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
ELL3_chr15_43767620_43781966 | 43778581 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0014 | 41 | 372 | 0.1102 | -6 | c.-16 others(17): Show |
ELL3 | ENSG00000128886.12 | transcript | ENST00000319359.8 | protein_coding | 1616 | chr15 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18462216 | GTGTGTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01074.hp2 others(34): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0001g0162a0001c0001t0001g0173a0001c0001t0001g0177others(34): Show | 37 | 244 | 0.1516 | -6 | c.470 others(21): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18466123 | AGGCACC | A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02896.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0013a0002c0002t0001g0014others(2): Show | 5 | 244 | 0.0205 | -6 | c.184 others(21): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 2/11 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18467631 | CCACACA | C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01099.hp1 others(28): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0010t0002 | a0001c0001t0002g0018a0001c0001t0002g0025a0001c0001t0002g0026others(28): Show | 31 | 244 | 0.1271 | -6 | c.184 others(23): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 2/11 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18482308 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01081.hp2 others(30): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0008others(2): Show | a0002c0002t0001g0012a0002c0002t0001g0014a0002c0002t0001g0015others(30): Show | 33 | 244 | 0.1353 | -6 | c.136 others(23): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18491249 | ATTTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0027a0001c0001t0002g0050a0001c0001t0002g0058others(11): Show | 14 | 244 | 0.0574 | -6 | c.136 others(25): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18509575 | ATGCACG | A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02896.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0013a0002c0002t0001g0014others(2): Show | 5 | 244 | 0.0205 | -6 | c.135 others(25): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18509598 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01243.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033a0001c0001t0002g0053a0001c0001t0002g0054others(7): Show | 10 | 244 | 0.0410 | -6 | c.135 others(25): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 36858664 | AAGAGTC | A | intron_variant | MODIFIER | HG01361.hp1 HG01978.hp2 HG02080.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0017a0001c0001t0003g0026a0001c0001t0003g0044others(4): Show | 7 | 92 | 0.0761 | -6 | c.198 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 36885319 | AAACAAC | A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01106.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025others(29): Show | 32 | 92 | 0.3478 | -6 | c.171 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 18/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 36953839 | TTGTGTG | T | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp2 HG01978.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0003g0065a0001c0001t0004g0046a0001c0002t0001g0081others(3): Show | 6 | 92 | 0.0652 | -6 | c.143 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 36970180 | AACACAC | A | intron_variant | MODIFIER | HG01106.hp2 HG02027.hp1 HG02080.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0085a0001c0001t0002g0067a0001c0001t0003g0026others(5): Show | 8 | 92 | 0.0870 | -6 | c.143 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 16/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37050609 | AACACAC | A | intron_variant | MODIFIER | HG01192.hp2 HG02818.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0090a0001c0001t0003g0017others(4): Show | 7 | 92 | 0.0761 | -6 | c.130 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37053285 | AACACAC | A | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0002a0001c0001t0014g0088 | 2 | 92 | 0.0217 | -6 | c.130 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37104010 | CAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0067a0001c0001t0005g0011others(4): Show | 7 | 92 | 0.0761 | -6 | c.119 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 14/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37126300 | AATATAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0017a0001c0002t0001others(2): Show | a0001c0001t0004g0063a0001c0001t0017g0012a0001c0002t0001g0071others(4): Show | 7 | 92 | 0.0761 | -6 | c.119 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 14/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37161905 | AATATAT | A | intron_variant | MODIFIER | HG01192.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0087a0001c0002t0006g0021 | 2 | 92 | 0.0217 | -6 | c.108 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37188449 | CACGCAA | C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01123.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0022a0001c0001t0001g0040a0001c0001t0001g0041others(17): Show | 20 | 92 | 0.2174 | -6 | c.108 others(27): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37267038 | TACACAC | T | intron_variant | MODIFIER | HG01258.hp1 HG01261.hp1 HG01358.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0001g0041a0001c0001t0001g0083a0001c0001t0005g0006others(11): Show | 14 | 92 | 0.1522 | -6 | c.243 others(23): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 5/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37321716 | CAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01192.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025others(19): Show | 22 | 92 | 0.2391 | -6 | c.79- others(21): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37331333 | CTTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01361.hp2 HG01934.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0003g0026a0001c0001t0005g0027a0001c0002t0001g0054others(3): Show | 6 | 92 | 0.0652 | -6 | c.78+ others(23): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 2/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37347515 | GTATTCT | G | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00741.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0022others(82): Show | 85 | 92 | 0.9239 | -6 | c.-73 others(23): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37383809 | TTTGTTG | T | intron_variant | MODIFIER | HG01261.hp1 HG01358.hp2 HG04228.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001a0001c0002t0011 | a0001c0001t0012g0066a0001c0002t0001g0081a0001c0002t0011g0039 | 3 | 92 | 0.0326 | -6 | c.-73 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37405193 | TCAAGAC | T | intron_variant | MODIFIER | HG01358.hp1 HG01934.hp2 HG01978.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0003g0026a0001c0001t0004g0007a0001c0001t0004g0043others(11): Show | 14 | 92 | 0.1522 | -6 | c.-74 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37429019 | GGTTGTT | G | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0009 | a0001c0001t0001g0068a0001c0002t0004g0023a0001c0002t0009g0069 | 3 | 92 | 0.0326 | -6 | c.-74 others(25): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37448199 | GAGCCGC | G | intron_variant | MODIFIER | HG03098.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007 | a0001c0001t0002g0019a0001c0002t0007g0018 | 2 | 92 | 0.0217 | -6 | c.-74 others(21): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46369959 | GGGGTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(103): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(81): Show | 106 | 312 | 0.3397 | -6 | c.188 others(23): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 20/21 | chr20 | TogoVar | ||||||
ELMO3_chr16_67194131_67209004 | 67195890 | ACAGCAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG02004.hp2 HG03209.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0001a0002c0002t0001g0038a0003c0003t0001g0008 | 3 | 328 | 0.0092 | -6 | c.-34 others(17): Show |
ELMO3 | ENSG00000102890.16 | transcript | ENST00000393997.8 | protein_coding | 3240 | chr16 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107590332 | TTCTCTC | T | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG01981.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0310a0001c0001t0001g0323a0001c0001t0002g0030others(18): Show | 22 | 342 | 0.0643 | -6 | c.-11 others(17): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 814 | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107644907 | GGTTTTT | G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02486.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0146a0001c0001t0001g0156a0001c0001t0001g0260others(11): Show | 14 | 342 | 0.0409 | -6 | c.421 others(23): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELMOD2_chr4_140519168_140558770 | 140535137 | TTCTCTC | T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0007a0001c0001t0001g0096a0001c0001t0001g0097others(24): Show | 39 | 370 | 0.1054 | -6 | c.172 others(21): Show |
ELMOD2 | ENSG00000179387.10 | transcript | ENST00000323570.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ELN_chr7_74023173_74074907 | 74053320 | CTGTGTG | C | intron_variant | MODIFIER | HG03453.hp1 HG03453.hp2 NA18991.hp1 |
a0006a0011 | a0006c0008a0011c0012 | a0006c0008t0001a0006c0008t0004a0011c0012t0001 | a0006c0008t0001g0140a0006c0008t0004g0139a0011c0012t0001g0092 | 3 | 366 | 0.0082 | -6 | c.109 others(21): Show |
ELN | ENSG00000049540.19 | transcript | ENST00000252034.12 | protein_coding | 18/32 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ELOA_chr1_23738471_23767059 | 23738704 | CAAAACA | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01261.hp2 HG02027.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0014 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0017others(2): Show | 5 | 400 | 0.0125 | -6 | c.-47 others(17): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 4766 | chr1 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23758253 | TTATTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01071.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0001a0002c0003t0001a0004c0006t0001 | a0001c0001t0001g0035a0002c0003t0001g0172a0004c0006t0001g0018 | 7 | 400 | 0.0175 | -6 | c.225 others(25): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELOA_chr1_23738471_23767059 | 23765206 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00642.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0016others(20): Show | 26 | 400 | 0.0650 | -6 | c.*56 others(17): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3148 | chr1 | TogoVar | ||||||
ELOC_chr8_73940119_73977191 | 73951647 | CACAACA | C | intron_variant | MODIFIER | HG01169.hp2 HG02647.hp1 NA19064.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210a0001c0001t0001g0252a0001c0001t0001g0253others(1): Show | 4 | 404 | 0.0099 | -6 | c.148 others(23): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
ELOF1_chr19_11548046_11564230 | 11550935 | GTGCACA | G | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0030a0001c0001t0039others(1): Show | a0001c0001t0025g0042a0001c0001t0030g0030a0001c0001t0039g0103others(2): Show | 7 | 412 | 0.0170 | -6 | c.*28 others(17): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 2110 | chr19 | TogoVar | ||||||
ELOF1_chr19_11548046_11564230 | 11550937 | GCACACA | G | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02895.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008a0001c0001t0008g0056 | 3 | 412 | 0.0073 | -6 | c.*28 others(17): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 2108 | chr19 | TogoVar | ||||||
ELOF1_chr19_11548046_11564230 | 11553554 | TCACACC | T | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG01952.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026a0001c0001t0033others(1): Show | a0001c0001t0004g0005a0001c0001t0004g0048a0001c0001t0004g0112others(9): Show | 31 | 412 | 0.0752 | -6 | c.*18 others(15): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 4/4 | 186 | chr19 | TogoVar | |||||
ELOF1_chr19_11548046_11564230 | 11553582 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(115): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0022others(22): Show | 118 | 412 | 0.2864 | -6 | c.*15 others(15): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 4/4 | 158 | chr19 | TogoVar | |||||
ELOVL2_chr6_10975759_11049305 | 10978278 | AATATAT | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00733.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(3): Show | a0001c0001t0001g0062a0001c0001t0001g0103a0001c0001t0014g0063others(43): Show | 53 | 380 | 0.1395 | -6 | c.*54 others(17): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2480 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10993098 | TAATGTA | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0023 | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0003g0001others(33): Show | 44 | 380 | 0.1158 | -6 | c.505 others(23): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11029223 | CAAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02976.hp2 HG03195.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0029 | a0001c0001t0001g0283a0001c0001t0010g0004a0001c0001t0010g0013others(3): Show | 9 | 380 | 0.0237 | -6 | c.3+1 others(21): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11043404 | AACACAC | A | intron_variant | MODIFIER | HG00597.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0004a0001c0001t0005a0005c0005t0004 | a0001c0001t0004g0200a0001c0001t0004g0201a0001c0001t0005g0012others(1): Show | 5 | 380 | 0.0132 | -6 | c.3+8 others(17): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL4_chr6_79909814_79952553 | 79921459 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0017others(27): Show | 41 | 354 | 0.1158 | -6 | c.541 others(21): Show |
ELOVL4 | ENSG00000118402.6 | transcript | ENST00000369816.5 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53306381 | GGAGAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(131): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(124): Show | 134 | 320 | 0.4188 | -6 | c.-8- others(23): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53329194 | ACTACTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(134): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(128): Show | 137 | 320 | 0.4281 | -6 | c.-9+ others(23): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar |