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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ECT2L_chr6_138791087_138909070 | 138864002 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG02965.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0007a0006c0011 | a0001c0001t0007a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0007g0006 a0001c0001t0009g0012 a0001c0001t0009g0108 others(6): Show |
9 | 54 | 0.1667 | 9 | c.129 others(26): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138867927 | T | TGAGCTCA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(4): Show |
a0005a0014 | a0005c0005a0005c0019a0014c0021 | a0005c0005t0001a0005c0019t0005a0014c0021t0001 | a0005c0005t0001g0300 a0005c0005t0001g0301 a0005c0005t0001g0302 others(4): Show |
7 | 324 | 0.0216 | 9 | c.147 others(26): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138890492 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0049 others(6): Show |
9 | 23 | 0.3913 | 9 | c.241 others(28): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405812 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01258.hp2 HG03130.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0002c0002t0004 | a0001c0001t0002g0174 a0001c0001t0008g0003 a0002c0002t0004g0249 |
3 | 291 | 0.0103 | 9 | c.62- others(24): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
EDAR_chr2_108889471_108994220 | 108959569 | A | AGCAGTCA others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03486.hp2 HG06807.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0012a0001c0002t0013a0001c0004t0003 | a0001c0002t0012g0010 a0001c0002t0013g0052 a0001c0004t0003g0135 |
3 | 224 | 0.0134 | 9 | c.-18 others(28): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69635566 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02109.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(9): Show |
12 | 120 | 0.1000 | 9 | c.396 others(28): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69777142 | G | GTGTTGTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01081.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0202 a0001c0001t0001g0206 others(7): Show |
11 | 197 | 0.0558 | 9 | c.396 others(30): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84006078 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(2): Show | a0001c0001t0001g0148 a0001c0001t0003g0086 a0001c0002t0003g0051 others(3): Show |
6 | 124 | 0.0484 | 9 | c.113 others(30): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84262659 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01123.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0026 others(13): Show |
16 | 17 | 0.9412 | 9 | c.68- others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
EDNRA_chr4_147476097_147549954 | 147504957 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01169.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0003g0008 a0001c0001t0003g0172 a0001c0001t0004g0165 others(30): Show |
34 | 139 | 0.2446 | 9 | c.421 others(28): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147505327 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01123.hp2 NA18950.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004 | a0001c0002t0001g0072 a0001c0002t0003g0009 a0001c0002t0003g0177 others(2): Show |
5 | 58 | 0.0862 | 9 | c.421 others(28): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92835400 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01256.hp1 HG01257.hp1 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004a0002c0003t0043 | a0002c0003t0002g0147 a0002c0003t0002g0148 a0002c0003t0002g0151 others(15): Show |
18 | 24 | 0.7500 | 9 | c.916 others(26): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 10/28 | chr12 | TogoVar | |||||||
EEF1A1_chr6_73510750_73526032 | 73524789 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp1 NA18612.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0003 |
8 | 220 | 0.0364 | 9 | c.-38 others(20): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3758 | chr6 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124774406 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03130.hp1 HG03225.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015 | a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0207 others(4): Show |
7 | 23 | 0.3043 | 9 | c.399 others(24): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF2KMT_chr16_5079284_5102795 | 5100184 | C | CTTTTTTC others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(283): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0008others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(172): Show |
286 | 425 | 0.6729 | 9 | c.-24 others(20): Show |
EEF2KMT | ENSG00000118894.15 | transcript | ENST00000427587.9 | protein_coding | 2390 | chr16 | TogoVar | |||||||
EEF2K_chr16_22201278_22293738 | 22289211 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02451.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(15): Show |
19 | 182 | 0.1044 | 9 | c.*52 others(20): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 474 | chr16 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3978803 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01074.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0045 others(7): Show |
32 | 66 | 0.4848 | 9 | c.171 others(26): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128176981 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG01928.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0002t0001g0003 others(6): Show |
9 | 176 | 0.0511 | 9 | c.316 others(28): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108641143 | A | AGGGCTGG others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(1): Show |
4 | 270 | 0.0148 | 9 | c.*59 others(20): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1822 | chr1 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36204419 | T | TGAGGAGG others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0276 a0001c0001t0005g0021 a0001c0001t0006g0156 others(3): Show |
6 | 327 | 0.0183 | 9 | c.879 others(28): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89835643 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0005a0001c0002t0019a0001c0003t0037others(1): Show | a0001c0002t0005g0187 a0001c0002t0019g0218 a0001c0003t0037g0018 others(1): Show |
4 | 274 | 0.0146 | 9 | c.411 others(28): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89921063 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01168.hp1 others(21): Show |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0017 others(21): Show |
24 | 213 | 0.1127 | 9 | c.410 others(28): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB12_chr3_129396321_129433636 | 129398039 | C | CGTGGGGT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp1 others(22): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0011 | a0001c0001t0001a0004c0004t0001a0010c0011t0001 | a0001c0001t0001g0208 a0004c0004t0001g0007 a0004c0004t0001g0022 others(12): Show |
25 | 384 | 0.0651 | 9 | c.*35 others(20): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 3281 | chr3 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47390914 | G | GTCTTATC others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01346.hp2 HG02056.hp2 others(27): Show |
a0003a0007a0009others(1): Show | a0003c0004a0003c0008a0003c0016others(3): Show | a0003c0004t0002a0003c0008t0003a0003c0016t0002others(3): Show | a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0220 others(26): Show |
30 | 183 | 0.1639 | 9 | c.158 others(26): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245004008 | C | CCATTGGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(253): Show |
257 | 288 | 0.8924 | 9 | c.26- others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245056935 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(101): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0018 others(101): Show |
104 | 153 | 0.6797 | 9 | c.111 others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32890494 | A | AACCTCCA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(140): Show |
a0001a0002a0003others(36): Show | a0001c0001a0002c0002a0002c0011others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(57): Show | a0001c0001t0001g0126 a0001c0001t0002g0030 a0001c0001t0002g0054 others(138): Show |
143 | 282 | 0.5071 | 9 | c.673 others(26): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44347996 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 HG02257.hp2 HG03209.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0043 a0001c0001t0003g0112 a0001c0001t0004g0105 others(3): Show |
6 | 110 | 0.0545 | 9 | c.-44 others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4325 | chrX | TogoVar | |||||||
EFHD1_chr2_232628604_232687776 | 232647643 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(105): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0033 others(103): Show |
108 | 284 | 0.3803 | 9 | c.302 others(28): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFHD2_chr1_15404888_15435339 | 15422073 | C | CCAGGTCA others(2): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18612.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0206 a0001c0001t0001g0209 |
3 | 422 | 0.0071 | 9 | c.309 others(26): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107399315 | A | AAGGAAAC others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03486.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0055a0001c0001t0063others(1): Show | a0001c0001t0051g0036 a0001c0001t0055g0095 a0001c0001t0063g0175 others(1): Show |
4 | 188 | 0.0213 | 9 | c.419 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107448866 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0035a0001c0001t0051others(1): Show | a0001c0001t0016g0106 a0001c0001t0035g0129 a0001c0001t0051g0036 others(1): Show |
4 | 97 | 0.0412 | 9 | c.126 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107496539 | A | ACATGTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0071 others(25): Show |
28 | 190 | 0.1474 | 9 | c.126 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107515362 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01175.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0003g0183 others(13): Show |
16 | 80 | 0.2000 | 9 | c.126 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107556785 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01106.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0056 a0001c0001t0002g0099 a0001c0001t0002g0134 others(9): Show |
12 | 151 | 0.0795 | 9 | c.125 others(30): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 131957350 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(31): Show |
a0001a0013a0015 | a0001c0001a0001c0007a0013c0013others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0007t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0099 others(27): Show |
34 | 383 | 0.0888 | 9 | c.776 others(26): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132013969 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG02074.hp1 HG03017.hp2 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0006 a0001c0003t0003g0007 a0001c0003t0003g0026 others(10): Show |
14 | 323 | 0.0433 | 9 | c.*30 others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 328 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG01978.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0076 a0001c0001t0001g0161 a0001c0001t0001g0163 others(6): Show |
9 | 277 | 0.0325 | 9 | c.*30 others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0119 a0001c0001t0001g0212 others(5): Show |
11 | 38 | 0.2895 | 9 | c.*72 others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25161587 | C | CGCCGCTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01070.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0015a0001c0001t0016others(8): Show | a0001c0001t0005g0157 a0001c0001t0005g0160 a0001c0001t0005g0164 others(30): Show |
33 | 303 | 0.1089 | 9 | c.*72 others(20): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 2453 | chr2 | TogoVar | |||||||
EFTUD2_chr17_44844948_44904445 | 44857920 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 others(4): Show |
7 | 328 | 0.0213 | 9 | c.196 others(26): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 19/27 | chr17 | TogoVar | |||||||
EGFL6_chrX_13564601_13638575 | 13600277 | C | CTTTCTTC others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02886.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0160 a0001c0005t0001g0220 a0001c0005t0001g0280 |
3 | 285 | 0.0105 | 9 | c.400 others(24): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13623376 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02004.hp1 HG02148.hp2 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0002a0003c0006t0004a0003c0006t0006 | a0003c0006t0002g0129 a0003c0006t0002g0138 a0003c0006t0004g0291 others(1): Show |
5 | 300 | 0.0167 | 9 | c.118 others(26): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | chrX | TogoVar | |||||||
EGFLAM_chr5_38253559_38470480 | 38288604 | A | AAAATATA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02809.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0016a0001c0001t0017a0002c0002t0007others(5): Show | a0001c0001t0016g0147 a0001c0001t0017g0085 a0002c0002t0007g0095 others(6): Show |
9 | 188 | 0.0479 | 9 | c.97+ others(26): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55027991 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01243.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0035a0001c0014t0020a0002c0002t0042others(2): Show | a0001c0001t0035g0030 a0001c0014t0020g0084 a0002c0002t0042g0039 others(2): Show |
5 | 154 | 0.0325 | 9 | c.88+ others(24): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | chr7 | TogoVar | |||||||
EGF_chr4_109907883_110018766 | 109970824 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01175.hp1 others(57): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0016a0003c0003others(8): Show | a0001c0001t0011a0001c0016t0002a0001c0016t0006others(18): Show | a0001c0001t0011g0142 a0001c0001t0011g0144 a0001c0001t0011g0145 others(55): Show |
60 | 198 | 0.3030 | 9 | c.172 others(28): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62729432 | A | AATAATAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(90): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(90): Show |
93 | 196 | 0.4745 | 9 | c.105 others(28): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62729514 | A | AATATAAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(103): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(103): Show |
106 | 195 | 0.5436 | 9 | c.105 others(28): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62894927 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0165 |
2 | 86 | 0.0233 | 9 | c.118 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62895278 | T | TATCATCA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03831.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0101 a0002c0002t0001g0004 |
2 | 115 | 0.0174 | 9 | c.118 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |