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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ECRG4_chr2_106060688_106083155 | 106071322 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0052 | 1 | 434 | 0.0023 | -15 | c.80- others(28): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECRG4_chr2_106060688_106083155 | 106071338 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02165.hp1 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0190 | 2 | 434 | 0.0046 | -15 | c.80- others(28): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECSCR_chr5_139443560_139467743 | 139446542 | TTTCTTTC others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 369 | 0.0027 | -15 | c.*23 others(26): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 2017 | chr5 | TogoVar | ||||||
ECSCR_chr5_139443560_139467743 | 139458500 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(123): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(39): Show | 126 | 369 | 0.3415 | -15 | c.62- others(28): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
ECSIT_chr19_11500929_11534134 | 11530873 | ATATTTTA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 312 | 0.0032 | -15 | c.-18 others(26): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 1740 | chr19 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138847355 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0023 | a0023c0036 | a0023c0036t0002 | a0023c0036t0002g0305 | 1 | 326 | 0.0031 | -15 | c.903 others(30): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138890492 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0008 | a0004c0008t0009 | a0004c0008t0009g0309 | 1 | 326 | 0.0031 | -15 | c.241 others(34): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236464423 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0007 | 1 | 294 | 0.0034 | -15 | c.220 others(32): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69612261 | GTTTTATT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00735.hp2 others(68): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0032a0001c0001t0001g0033others(68): Show | 71 | 226 | 0.3142 | -15 | c.-40 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 3851 | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69749919 | GTTCTTTT others(8): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 226 | 0.0044 | -15 | c.396 others(36): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69810257 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG00741.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0117a0001c0001t0001g0211others(9): Show | 12 | 226 | 0.0531 | -15 | c.397 others(36): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69978318 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 226 | 0.0044 | -15 | c.502 others(34): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDDM13_chr19_56267748_56315454 | 56302566 | TCCTTTTC others(8): Show |
T | intron_variant | MODIFIER | HG03710.hp2 HG04184.hp1 HG04199.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0039a0001c0001t0001g0292others(6): Show | 11 | 396 | 0.0278 | -15 | c.423 others(30): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDDM13_chr19_56267748_56315454 | 56302580 | CCCCTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00741.hp2 others(73): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0004a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(61): Show | 76 | 396 | 0.1919 | -15 | c.423 others(30): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDDM13_chr19_56267748_56315454 | 56302585 | TTTCTTCC others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00597.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0048others(22): Show | 26 | 396 | 0.0657 | -15 | c.423 others(30): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDIL3_chr5_83935554_84389880 | 84006343 | TAAAACAA others(8): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0061a0001c0001t0001g0147others(6): Show | 9 | 158 | 0.0570 | -15 | c.113 others(36): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84160744 | TCTTTCCT others(8): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG01993.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0005 | a0001c0001t0002g0119a0001c0001t0004g0116a0001c0003t0005g0051 | 3 | 158 | 0.0190 | -15 | c.355 others(34): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84384918 | GCGCCCGC others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00738.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0019others(20): Show | 23 | 158 | 0.1456 | -15 | c.-55 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 39 | chr5 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92865714 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0003 | a0001c0001t0001a0001c0012t0006a0002c0003t0002others(5): Show | a0001c0001t0001g0081a0001c0012t0006g0157a0002c0003t0002g0001others(43): Show | 47 | 244 | 0.1926 | -15 | c.118 others(30): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124795595 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0307a0001c0001t0004g0309a0001c0001t0004g0310others(13): Show | 16 | 358 | 0.0447 | -15 | c.-37 others(26): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3709 | chr10 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128211837 | CTTTTTCT others(8): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 272 | 0.0037 | -15 | c.317 others(34): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEIG1_chr9_127935582_127985989 | 127965106 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0044a0001c0001t0001g0142others(25): Show | 30 | 342 | 0.0877 | -15 | c.147 others(34): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 1/10 | chr9 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36165411 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03139.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0035 | a0001c0001t0009g0328a0001c0001t0035g0327 | 2 | 346 | 0.0058 | -15 | c.878 others(34): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36216529 | TTACACAC others(8): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0339 | 1 | 346 | 0.0029 | -15 | c.879 others(34): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36271798 | CCTATTCT others(8): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG01516.hp2 others(30): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0082a0001c0001t0001g0117a0001c0001t0001g0271others(30): Show | 33 | 346 | 0.0954 | -15 | c.931 others(32): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36271869 | CTATTCTA others(8): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG03486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0269a0001c0001t0001g0279a0001c0001t0001g0284others(7): Show | 10 | 346 | 0.0289 | -15 | c.931 others(32): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EFCAB10_chr7_105560124_105586493 | 105583167 | AGGGCGGG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 2 | 428 | 0.0047 | -15 | c.-17 others(26): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1675 | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89834375 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0009 | a0001c0009t0014 | a0001c0009t0014g0270 | 1 | 284 | 0.0035 | -15 | c.411 others(34): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89842597 | AATATGAT others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0003t0004 | a0001c0001t0002g0044a0001c0001t0006g0149a0001c0003t0004g0004 | 3 | 284 | 0.0106 | -15 | c.411 others(34): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129397961 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01175.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0086a0001c0007t0001g0212a0001c0007t0001g0231others(6): Show | 9 | 386 | 0.0233 | -15 | c.*36 others(26): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 3359 | chr3 | TogoVar | ||||||
EFCAB14_chr1_46670159_46724114 | 46679599 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02818.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0015a0002c0004t0009g0129 | 4 | 374 | 0.0107 | -15 | c.131 others(32): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30110307 | ACCTCCTG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0216 | 1 | 248 | 0.0040 | -15 | c.*22 others(26): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 1856 | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43548539 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0223 | 1 | 290 | 0.0035 | -15 | c.364 others(34): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 27/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43599509 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0286 | 1 | 290 | 0.0035 | -15 | c.287 others(32): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 23/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43662159 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
a0001a0007a0017others(1): Show | a0001c0001a0007c0014a0017c0025others(1): Show | a0001c0001t0001a0001c0001t0002a0007c0014t0005others(2): Show | a0001c0001t0001g0083a0001c0001t0001g0153a0001c0001t0002g0007others(7): Show | 10 | 290 | 0.0345 | -15 | c.198 others(34): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 17/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43744080 | GATGAATG others(8): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp1 HG02280.hp2 others(2): Show |
a0002 | a0002c0002a0002c0019 | a0002c0002t0001a0002c0019t0001 | a0002c0002t0001g0115a0002c0002t0001g0116a0002c0002t0001g0120others(2): Show | 5 | 290 | 0.0172 | -15 | c.508 others(32): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 6/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43760212 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(64): Show |
a0001a0008 | a0001c0001a0001c0035a0001c0046others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0035t0001others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0027others(64): Show | 67 | 290 | 0.2310 | -15 | c.441 others(32): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 5/31 | chr22 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32860493 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0058 | 1 | 284 | 0.0035 | -15 | c.-11 others(32): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32939188 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG02717.hp1 |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0001a0009c0015t0001 | a0001c0001t0001g0160a0009c0015t0001g0098 | 2 | 284 | 0.0070 | -15 | c.279 others(34): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | chr20 | TogoVar | ||||||
EFEMP1_chr2_55860967_55928782 | 55904970 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01070.hp2 others(13): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0001g0072others(10): Show | 16 | 350 | 0.0457 | -15 | c.517 others(34): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 5/11 | chr2 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52463001 | TTTTGTTT others(8): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0097 | 1 | 396 | 0.0025 | -15 | c.917 others(32): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC2_chrX_44142872_44348672 | 44251597 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02523.hp1 HG04115.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0065a0001c0001t0001g0130a0001c0001t0004g0063others(1): Show | 4 | 221 | 0.0181 | -15 | c.607 others(32): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44282632 | GGGGGTGG others(8): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01361.hp1 HG01928.hp1 others(12): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0008a0003c0003others(2): Show | a0002c0002t0002a0002c0008t0004a0003c0003t0002others(3): Show | a0002c0002t0002g0079a0002c0002t0002g0190a0002c0008t0004g0055others(12): Show | 15 | 221 | 0.0679 | -15 | c.232 others(32): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232687347 | AAAAAAAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0019a0001c0001t0001g0036a0001c0001t0001g0048others(97): Show | 102 | 382 | 0.2670 | -15 | c.*56 others(26): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 4572 | chr2 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1300241 | ATTTTTTT others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0039 | 1 | 294 | 0.0034 | -15 | c.*31 others(24): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 317 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
EFNA5_chr5_107371894_107675937 | 107380373 | TTAAAAAA others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0156a0001c0001t0017g0180 | 2 | 190 | 0.0105 | -15 | c.*86 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 5/5 | 867 | chr5 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25041238 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00733.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(12): Show | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0019others(45): Show | 48 | 306 | 0.1569 | -15 | c.-10 others(26): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 837 | chr2 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13598558 | AGTTGTTG others(8): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 302 | 0.0033 | -15 | c.281 others(32): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13625895 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 302 | 0.0033 | -15 | c.128 others(34): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EGFLAM_chr5_38253559_38470480 | 38330201 | CCAATATT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01123.hp2 others(1): Show |
a0001a0023 | a0001c0001a0023c0024 | a0001c0001t0001a0023c0024t0001 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0076others(1): Show | 4 | 190 | 0.0211 | -15 | c.98- others(30): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |