| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMID1_chr22_29200896_29264597 | 29238254 | AATTATTA others(14): Show |
A | intron_variant | MODIFIER | NA18955.hp2 NA19005.hp1 NA19079.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0193a0001c0002t0002g0194a0001c0002t0002g0195 | 3 | 348 | 0.0086 | -21 | c.107 others(40): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| EML2_chr19_45604400_45644397 | 45637646 | TTTTTTTT others(14): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0093 | 2 | 382 | 0.0052 | -21 | c.179 others(36): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 3/18 | chr19 | TogoVar | ||||||
| EML2_chr19_45604400_45644397 | 45642256 | AGGACCGC others(14): Show |
A | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 382 | 0.0026 | -21 | c.-29 others(32): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 2860 | chr19 | TogoVar | ||||||
| EML5_chr14_88607431_88797953 | 88796444 | TTTTATAT others(14): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01099.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0011a0001c0001t0019a0001c0003t0004others(4): Show | a0001c0001t0011g0214a0001c0001t0019g0212a0001c0001t0019g0217others(15): Show | 18 | 332 | 0.0542 | -21 | c.-39 others(32): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3492 | chr14 | TogoVar | ||||||
| ENAH_chr1_225481829_225658123 | 225520919 | AGGAAGGG others(14): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0004 | a0003c0004t0051 | a0003c0004t0051g0236 | 1 | 308 | 0.0033 | -21 | c.435 others(38): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
| ENKD1_chr16_67657945_67671750 | 67663577 | AGTTGATG others(14): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0018 | 1 | 274 | 0.0037 | -21 | c.744 others(34): Show |
ENKD1 | ENSG00000124074.12 | transcript | ENST00000243878.9 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43247860 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0004 | 1 | 188 | 0.0053 | -21 | c.161 others(42): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43417193 | AGGGAGAC others(14): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0177 | 1 | 188 | 0.0053 | -21 | c.-74 others(38): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43601446 | AAGAATTA others(14): Show |
A | intron_variant | MODIFIER | HG03139.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0055a0001c0001t0015g0004 | 2 | 188 | 0.0106 | -21 | c.-21 others(42): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43734199 | GGTTGTTG others(14): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(128): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0080a0001c0001t0001g0098a0001c0001t0002g0006others(128): Show | 131 | 188 | 0.6968 | -21 | c.-28 others(42): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43790583 | TAAAAAAA others(14): Show |
T | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 188 | 0.0053 | -21 | c.-42 others(32): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3612 | chr13 | TogoVar | ||||||
| ENOX1_chr13_43208130_43791972 | 43790611 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | NA18978.hp1 NA19079.hp1 NA19081.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0034a0001c0002t0006 | a0001c0001t0005g0152a0001c0001t0005g0155a0001c0001t0034g0148others(1): Show | 4 | 188 | 0.0213 | -21 | c.-42 others(32): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3640 | chr13 | TogoVar | ||||||
| ENPP1_chr6_131803020_131900155 | 131877865 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01981.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0082a0001c0001t0005g0083 | 2 | 292 | 0.0069 | -21 | c.189 others(38): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ENPP7_chr17_79725943_79747219 | 79746195 | TAAAAAAA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG01358.hp1 others(2): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0007t0002others(2): Show | a0001c0002t0001g0018a0001c0003t0001g0006a0001c0007t0002g0227others(2): Show | 5 | 430 | 0.0116 | -21 | c.*44 others(32): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 3977 | chr17 | TogoVar | ||||||
| ENTPD7_chr10_99654509_99716241 | 99702054 | AAAACAAA others(14): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0036 | a0001c0001t0035g0322a0001c0001t0036g0326 | 2 | 408 | 0.0049 | -21 | c.142 others(38): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ENTREP2_chr15_29115252_29575979 | 29306664 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | NA18990.hp1 NA19009.hp1 |
a0001a0004 | a0001c0002a0004c0020 | a0001c0002t0016a0004c0020t0033 | a0001c0002t0016g0012a0004c0020t0033g0071 | 2 | 125 | 0.0160 | -21 | c.277 others(40): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
| EPAS1_chr2_46292407_46391697 | 46362956 | GGTGGTGG others(14): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp1 HG02965.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(3): Show | a0001c0001t0001g0050a0001c0001t0001g0258a0001c0001t0004g0051others(5): Show | 8 | 326 | 0.0245 | -21 | c.779 others(38): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EPB41L1_chr20_36149740_36237799 | 36211122 | CACACCTG others(14): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01261.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0002t0012a0001c0002t0021others(2): Show | a0001c0002t0006g0031a0001c0002t0012g0131a0001c0002t0012g0132others(11): Show | 14 | 236 | 0.0593 | -21 | c.208 others(40): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 15/21 | chr20 | TogoVar | ||||||
| EPB41L1_chr20_36149740_36237799 | 36237750 | GTATTATT others(14): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02451.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0006a0001c0003t0006a0001c0003t0024others(4): Show | a0001c0002t0006g0031a0001c0003t0006g0197a0001c0003t0024g0198others(7): Show | 10 | 236 | 0.0424 | -21 | c.*84 others(32): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 4952 | chr20 | TogoVar | ||||||
| EPB41L3_chr18_5387386_5548997 | 5389994 | TAAAAAAA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03130.hp2 NA18964.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029a0001c0002t0002g0069a0001c0002t0002g0071 | 3 | 222 | 0.0135 | -21 | c.*34 others(32): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2391 | chr18 | TogoVar | ||||||
| EPB41L4A_chr5_112157619_112424277 | 112408698 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02155.hp2 HG03225.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0001t0027a0001c0002t0002others(3): Show | a0001c0001t0002g0062a0001c0001t0002g0065a0001c0001t0002g0066others(8): Show | 11 | 228 | 0.0483 | -21 | c.99+ others(38): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
| EPB41L5_chr2_120008077_120184119 | 120069128 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(134): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0004a0001c0001t0005a0002c0002t0001others(11): Show | a0001c0001t0004g0107a0001c0001t0004g0108a0001c0001t0005g0002others(134): Show | 137 | 278 | 0.4928 | -21 | c.286 others(38): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EPC2_chr2_148639751_148792569 | 148733479 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(1): Show | 4 | 308 | 0.0130 | -21 | c.314 others(40): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EPCAM_chr2_47364311_47392020 | 47365513 | TATATATA others(14): Show |
T | upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0122 | 1 | 450 | 0.0022 | -21 | c.-39 others(32): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3797 | chr2 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47365514 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG04228.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0212a0001c0001t0001g0246 | 3 | 450 | 0.0067 | -21 | c.-39 others(32): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3796 | chr2 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47365518 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02074.hp2 HG04184.hp2 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0060a0001c0001t0001g0061others(1): Show | 4 | 450 | 0.0089 | -21 | c.-39 others(32): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 3792 | chr2 | TogoVar | ||||||
| EPCAM_chr2_47364311_47392020 | 47383607 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0057 | 1 | 450 | 0.0022 | -21 | c.859 others(38): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EPGN_chr4_74303470_74321789 | 74308118 | AGGTTATG others(14): Show |
A | upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 366 | 0.0027 | -21 | c.-41 others(30): Show |
EPGN | ENSG00000182585.10 | transcript | ENST00000413830.6 | protein_coding | 351 | chr4 | TogoVar | ||||||
| EPHA10_chr1_37710976_37770120 | 37732863 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03540.hp2 NA19005.hp1 |
a0001a0003 | a0001c0001a0001c0040a0003c0004 | a0001c0001t0001a0001c0040t0011a0003c0004t0005 | a0001c0001t0001g0084a0001c0040t0011g0047a0003c0004t0005g0322 | 3 | 382 | 0.0079 | -21 | c.149 others(40): Show |
EPHA10 | ENSG00000183317.17 | transcript | ENST00000373048.9 | protein_coding | 6/16 | chr1 | TogoVar | ||||||
| EPHA3_chr3_89102621_89487134 | 89211721 | TCTTTTTC others(14): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0187 | 1 | 200 | 0.0050 | -21 | c.814 others(38): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHA3_chr3_89102621_89487134 | 89211725 | TTTCTTCT others(14): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01496.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(8): Show | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0001g0060others(22): Show | 25 | 200 | 0.1250 | -21 | c.814 others(38): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHA3_chr3_89102621_89487134 | 89371575 | GTCAGCCA others(14): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0190 | 1 | 200 | 0.0050 | -21 | c.130 others(42): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPHA4_chr2_221413027_221577304 | 221496305 | GGCTATTG others(14): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0286 | 1 | 294 | 0.0034 | -21 | c.979 others(38): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 4/17 | chr2 | TogoVar | ||||||
| EPHA4_chr2_221413027_221577304 | 221499744 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03579.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0036a0001c0003t0003 | a0001c0001t0036g0115a0001c0003t0003g0114 | 2 | 294 | 0.0068 | -21 | c.979 others(38): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 4/17 | chr2 | TogoVar | ||||||
| EPHA4_chr2_221413027_221577304 | 221526852 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(97): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0012others(97): Show | 100 | 294 | 0.3401 | -21 | c.824 others(40): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 3/17 | chr2 | TogoVar | ||||||
| EPHA4_chr2_221413027_221577304 | 221566875 | AAGGAGAA others(14): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02735.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0280a0001c0003t0003g0281 | 2 | 294 | 0.0068 | -21 | c.159 others(38): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
| EPHA4_chr2_221413027_221577304 | 221566936 | AGGAGAAG others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0082 | 1 | 294 | 0.0034 | -21 | c.159 others(38): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
| EPHA6_chr3_96809594_97766532 | 96826705 | TATTTCCA others(14): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028a0001c0001t0002g0029 | 2 | 82 | 0.0244 | -21 | c.385 others(40): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 1/17 | chr3 | TogoVar | ||||||
| EPHA7_chr6_93235020_93424559 | 93416998 | GTCGGGAA others(14): Show |
G | intron_variant | MODIFIER | HG03453.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0002 | a0001c0001t0017g0256a0001c0002t0002g0258 | 2 | 280 | 0.0071 | -21 | c.97+ others(36): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 1/16 | chr6 | TogoVar | ||||||
| EPHA8_chr1_22558489_22608595 | 22599620 | AGAAGGGA others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0207a0001c0006t0005g0212a0001c0006t0005g0282others(4): Show | 7 | 342 | 0.0205 | -21 | c.238 others(38): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| EPHX2_chr8_27486143_27550564 | 27501324 | TTTCTTCT others(14): Show |
T | intron_variant | MODIFIER | HG01891.hp1 NA18947.hp2 NA21309.hp2 |
a0001a0006 | a0001c0001a0001c0002a0006c0020 | a0001c0001t0001a0001c0002t0002a0006c0020t0001 | a0001c0001t0001g0194a0001c0002t0002g0286a0006c0020t0001g0193 | 3 | 374 | 0.0080 | -21 | c.186 others(36): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| EPHX4_chr1_92024985_92068538 | 92064727 | CAAAAAAA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0095 | 3 | 236 | 0.0127 | -21 | c.*14 others(32): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1190 | chr1 | TogoVar | ||||||
| EPO_chr7_100715468_100728700 | 100726022 | AGAACCTG others(14): Show |
A | downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | -21 | c.*28 others(32): Show |
EPO | ENSG00000130427.3 | transcript | ENST00000252723.3 | protein_coding | 2323 | chr7 | TogoVar | ||||||
| EPRS1_chr1_219963600_220051505 | 219965738 | GTACTGGC others(14): Show |
G | downstream_gene_variant | MODIFIER | NA18943.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0019 | 1 | 358 | 0.0028 | -21 | c.*30 others(32): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 2861 | chr1 | TogoVar | ||||||
| EPS15L1_chr19_16350247_16476970 | 16393077 | TATAATAA others(14): Show |
T | intron_variant | MODIFIER | HG03579.hp1 HG06807.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0140a0001c0001t0001g0195 | 3 | 276 | 0.0109 | -21 | c.196 others(38): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 18/23 | chr19 | TogoVar | ||||||
| EPS15_chr1_51349263_51524266 | 51508213 | GAAAAGAA others(14): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0002 | 1 | 152 | 0.0066 | -21 | c.33+ others(38): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
| EPS8L2_chr11_701231_732727 | 720943 | CGGGGAGG others(14): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 | 1 | 406 | 0.0025 | -21 | c.557 others(34): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ERAP1_chr5_96769484_96812945 | 96807668 | TCGCGCCC others(14): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 HG03130.hp2 others(1): Show |
a0001a0016a0022 | a0001c0001a0016c0021a0022c0028 | a0001c0001t0001a0016c0021t0013a0022c0028t0023 | a0001c0001t0001g0056a0016c0021t0013g0057a0016c0021t0013g0058others(1): Show | 4 | 416 | 0.0096 | -21 | c.-18 others(36): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 1/18 | chr5 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 211524833 | CGGTGGGC others(14): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03486.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0024others(1): Show | a0001c0001t0009g0023a0001c0001t0009g0046a0001c0001t0012g0001others(2): Show | 5 | 56 | 0.0893 | -21 | c.248 others(42): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | ||||||
| ERBB4_chr2_211370717_212543802 | 211622989 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0041 | 1 | 56 | 0.0179 | -21 | c.220 others(38): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar |