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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EEF1AKMT2_chr10_124752834_124796887 | 124792504 | G | GTTTGT | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02155.hp2 HG02683.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0093a0001c0001t0001g0166a0001c0001t0001g0183others(7): Show | 10 | 358 | 0.0279 | 5 | c.-67 others(14): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 618 | chr10 | TogoVar | ||||||
EEF1AKMT3_chr12_57767614_57787541 | 57773411 | C | CTCTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(132): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0002t0001a0001c0002t0005others(5): Show | a0001c0001t0005g0039a0001c0001t0005g0040a0001c0001t0005g0041others(37): Show | 135 | 362 | 0.3729 | 5 | c.289 others(20): Show |
EEF1AKMT3 | ENSG00000123427.17 | transcript | ENST00000300209.13 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EEF1AKMT4_chr3_184244672_184263759 | 184251106 | A | AGAAAG | intron_variant | MODIFIER | HG02615.hp1 HG02970.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0001 | a0001c0002t0002g0023a0001c0002t0002g0041a0001c0008t0001g0094 | 4 | 378 | 0.0106 | 5 | c.196 others(22): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
EEF1B2_chr2_206154895_206167928 | 206157963 | C | CTTCTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(121): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(10): Show | 124 | 360 | 0.3444 | 5 | c.-20 others(16): Show |
EEF1B2 | ENSG00000114942.15 | transcript | ENST00000392222.7 | protein_coding | 1931 | chr2 | TogoVar | ||||||
EEF1B2_chr2_206154895_206167928 | 206165599 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(3): Show | 22 | 360 | 0.0611 | 5 | c.*27 others(16): Show |
EEF1B2 | ENSG00000114942.15 | transcript | ENST00000392222.7 | protein_coding | 2672 | chr2 | TogoVar | ||||||
EEF1D_chr8_143574728_143602415 | 143578339 | T | TCCGGC | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(119): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0117a0001c0002t0001g0002others(44): Show | 122 | 389 | 0.3136 | 5 | c.*14 others(16): Show |
EEF1D | ENSG00000104529.19 | transcript | ENST00000618139.4 | protein_coding | 1388 | chr8 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101225 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01074.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0094others(8): Show | 19 | 442 | 0.0430 | 5 | c.87+ others(20): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101359 | T | TATATA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(95): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 98 | 442 | 0.2217 | 5 | c.87+ others(20): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1G_chr11_62554596_62578891 | 62564758 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0101others(1): Show | 13 | 262 | 0.0496 | 5 | c.857 others(22): Show |
EEF1G | ENSG00000254772.10 | transcript | ENST00000329251.5 | protein_coding | 7/9 | chr11 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22226517 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(58): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(10): Show | a0001c0001t0001g0187a0001c0001t0006g0130a0001c0001t0006g0143others(58): Show | 61 | 290 | 0.2103 | 5 | c.246 others(20): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22234877 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG01099.hp1 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0033a0001c0002t0001a0001c0002t0003others(15): Show | a0001c0001t0033g0098a0001c0002t0001g0170a0001c0002t0001g0194others(39): Show | 42 | 290 | 0.1448 | 5 | c.246 others(22): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2_chr19_3971056_3990463 | 3978803 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0040others(20): Show | 45 | 403 | 0.1117 | 5 | c.171 others(22): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128295451 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00673.hp1 others(25): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0002a0005c0013t0001 | a0001c0001t0001g0030a0001c0001t0001g0041a0001c0001t0001g0068others(25): Show | 28 | 272 | 0.1029 | 5 | c.786 others(24): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128403696 | A | ACCCAC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(142): Show | 145 | 272 | 0.5331 | 5 | c.160 others(24): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEIG1_chr9_127935582_127985989 | 127939490 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(114): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(78): Show | 117 | 342 | 0.3421 | 5 | c.*37 others(16): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 1091 | chr9 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36242130 | T | TAACTA | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0146a0001c0001t0002g0263a0001c0001t0002g0265others(3): Show | 6 | 346 | 0.0173 | 5 | c.930 others(22): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36271798 | C | CCTATT | intron_variant | MODIFIER | HG02293.hp2 HG02523.hp1 HG02615.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0003a0001c0001t0008a0001c0001t0018others(6): Show | a0001c0001t0003g0114a0001c0001t0008g0236a0001c0001t0018g0339others(8): Show | 11 | 346 | 0.0318 | 5 | c.931 others(22): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36272503 | G | GTTTTT | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02451.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0002g0276a0001c0001t0006g0156a0001c0001t0009g0303others(10): Show | 13 | 346 | 0.0376 | 5 | c.931 others(22): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EFCAB10_chr7_105560124_105586493 | 105570211 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00741.hp2 others(19): Show |
a0001 | a0001c0001a0001c0006a0001c0019 | a0001c0001t0001a0001c0006t0001a0001c0019t0001 | a0001c0001t0001g0021a0001c0001t0001g0050a0001c0001t0001g0052others(15): Show | 22 | 428 | 0.0514 | 5 | c.107 others(20): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAAAAT | intron_variant | MODIFIER | HG01258.hp2 HG01496.hp2 HG02273.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0022a0001c0001t0001g0034a0001c0001t0001g0078others(10): Show | 16 | 428 | 0.0374 | 5 | c.107 others(20): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAATAT | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01074.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0210a0001c0001t0001g0219a0001c0001t0001g0247others(4): Show | 8 | 428 | 0.0187 | 5 | c.107 others(20): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | ATATAT | intron_variant | MODIFIER | HG01361.hp1 HG03195.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0005t0001a0001c0007t0003 | a0001c0001t0001g0216a0001c0001t0001g0242a0001c0001t0001g0263others(2): Show | 5 | 428 | 0.0117 | 5 | c.107 others(20): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89834403 | A | AAAAAC | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG02572.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(3): Show | a0001c0001t0002g0029a0001c0001t0002g0044a0001c0001t0002g0166others(5): Show | 8 | 284 | 0.0282 | 5 | c.411 others(24): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89842597 | A | AATATG | intron_variant | MODIFIER | HG01109.hp1 HG02071.hp1 HG02132.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(4): Show | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0010g0236others(6): Show | 9 | 284 | 0.0317 | 5 | c.411 others(24): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89842637 | G | GATATA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01070.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0005g0086others(11): Show | 14 | 284 | 0.0493 | 5 | c.411 others(24): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129406048 | T | TAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00673.hp2 others(73): Show |
a0002a0004a0016others(1): Show | a0002c0002a0004c0004a0016c0017others(1): Show | a0002c0002t0001a0002c0002t0002a0004c0004t0001others(2): Show | a0002c0002t0001g0001a0002c0002t0001g0008a0002c0002t0001g0011others(41): Show | 76 | 386 | 0.1969 | 5 | c.125 others(24): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 6/8 | chr3 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47390914 | G | GTCTTA | intron_variant | MODIFIER | HG02083.hp1 HG03688.hp1 NA18747.hp1 others(2): Show |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0002a0004c0003t0001 | a0003c0004t0002g0219a0003c0004t0002g0233a0003c0004t0002g0239others(2): Show | 5 | 356 | 0.0140 | 5 | c.158 others(22): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB13_chr17_47318955_47446312 | 47399714 | G | GTGGTA | intron_variant | MODIFIER | HG02965.hp2 HG03540.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0255a0001c0001t0005g0256a0001c0001t0005g0257 | 3 | 356 | 0.0084 | 5 | c.194 others(24): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB13_chr17_47318955_47446312 | 47441998 | C | CTTTTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(134): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(134): Show | 137 | 356 | 0.3848 | 5 | c.*12 others(16): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 687 | chr17 | TogoVar | ||||||
EFCAB14_chr1_46670159_46724114 | 46679599 | G | GTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG00733.hp2 others(25): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0003 | a0001c0001t0003g0004a0001c0001t0003g0032a0001c0001t0003g0034others(18): Show | 28 | 374 | 0.0749 | 5 | c.131 others(22): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0024others(112): Show | 115 | 290 | 0.3966 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244970638 | T | TCCGCC | intron_variant | MODIFIER | HG01496.hp2 HG02723.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(1): Show | 4 | 290 | 0.0138 | 5 | c.25+ others(18): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245039351 | A | ATGCCT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(132): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(131): Show | 135 | 290 | 0.4655 | 5 | c.111 others(24): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245045381 | C | CAGCAA | intron_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02486.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0120a0001c0001t0001g0155a0001c0001t0001g0156others(14): Show | 17 | 290 | 0.0586 | 5 | c.111 others(24): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 245082686 | C | CTTTTA | intron_variant | MODIFIER | HG01106.hp1 HG02040.hp2 HG02257.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0054a0001c0001t0001g0126a0001c0001t0001g0138others(17): Show | 20 | 290 | 0.0690 | 5 | c.263 others(20): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB3_chr17_62375553_62421480 | 62399456 | C | CCGCCT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp2 others(66): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0014others(52): Show | 69 | 368 | 0.1875 | 5 | c.488 others(22): Show |
EFCAB3 | ENSG00000172421.10 | transcript | ENST00000305286.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30097061 | T | TATATA | intron_variant | MODIFIER | HG01433.hp2 HG02683.hp2 HG03834.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0008a0002c0002t0002g0055a0002c0002t0002g0056others(8): Show | 11 | 248 | 0.0444 | 5 | c.432 others(24): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43598310 | G | GAAAAC | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 HG02622.hp2 others(9): Show |
a0002 | a0002c0002a0002c0038 | a0002c0002t0001a0002c0038t0001 | a0002c0002t0001g0120a0002c0002t0001g0242a0002c0002t0001g0243others(9): Show | 12 | 290 | 0.0414 | 5 | c.287 others(24): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 23/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43632294 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01243.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0153a0002c0002t0001g0141a0003c0003t0001g0212others(9): Show | 12 | 290 | 0.0414 | 5 | c.209 others(20): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 18/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43811363 | G | GGGGAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(18): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0003a0006c0006others(3): Show | a0001c0001t0001a0003c0003t0001a0006c0006t0001others(4): Show | a0001c0001t0001g0285a0003c0003t0001g0284a0006c0006t0001g0265others(18): Show | 21 | 290 | 0.0724 | 5 | c.-14 others(22): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 1/31 | chr22 | TogoVar | ||||||
EFCAB7_chr1_63518525_63577693 | 63527440 | T | TATAAC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(219): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0009a0002c0003others(9): Show | a0001c0002t0001a0001c0009t0001a0002c0003t0001others(9): Show | a0001c0002t0001g0003a0001c0002t0001g0006a0001c0002t0001g0009others(182): Show | 222 | 374 | 0.5936 | 5 | c.187 others(22): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32860493 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG01891.hp1 others(7): Show |
a0002a0007a0015others(3): Show | a0002c0002a0002c0046a0007c0006others(4): Show | a0002c0002t0001a0002c0046t0003a0007c0006t0001others(4): Show | a0002c0002t0001g0234a0002c0002t0001g0235a0002c0046t0003g0233others(7): Show | 10 | 284 | 0.0352 | 5 | c.-11 others(22): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32877207 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(29): Show |
a0004a0006a0010others(7): Show | a0004c0004a0006c0005a0010c0009others(8): Show | a0004c0004t0001a0004c0004t0003a0006c0005t0003others(10): Show | a0004c0004t0001g0089a0004c0004t0003g0058a0004c0004t0003g0066others(29): Show | 32 | 284 | 0.1127 | 5 | c.327 others(22): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32935188 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG01496.hp1 HG01943.hp2 others(4): Show |
a0002a0004a0005others(1): Show | a0002c0002a0004c0004a0005c0037others(1): Show | a0002c0002t0003a0004c0004t0001a0004c0004t0003others(3): Show | a0002c0002t0003g0275a0002c0002t0003g0276a0004c0004t0001g0089others(4): Show | 7 | 284 | 0.0247 | 5 | c.279 others(24): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32935192 | C | CTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG02148.hp1 HG02602.hp2 others(3): Show |
a0006a0026 | a0006c0005a0026c0027 | a0006c0005t0003a0026c0027t0003 | a0006c0005t0003g0064a0006c0005t0003g0074a0006c0005t0003g0075others(3): Show | 6 | 284 | 0.0211 | 5 | c.279 others(24): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB9_chr5_172189172_172208454 | 172202332 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0010others(29): Show | 77 | 408 | 0.1887 | 5 | c.463 others(20): Show |
EFCAB9 | ENSG00000214360.5 | transcript | ENST00000398186.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EFHB_chr3_19874472_19939217 | 19908562 | A | AGAGAG | intron_variant | MODIFIER | HG01978.hp1 HG03704.hp2 NA18984.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0002a0003c0004t0001a0004c0005t0001 | a0001c0001t0002g0263a0001c0001t0002g0297a0003c0004t0001g0151others(1): Show | 4 | 344 | 0.0116 | 5 | c.128 others(24): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52463016 | G | GTTTGT | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01099.hp1 others(24): Show |
a0002a0011 | a0002c0002a0011c0013 | a0002c0002t0021a0002c0002t0024a0002c0002t0027others(19): Show | a0002c0002t0021g0305a0002c0002t0021g0306a0002c0002t0024g0009others(24): Show | 27 | 396 | 0.0682 | 5 | c.917 others(22): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC2_chrX_44142872_44348672 | 44152756 | A | ACACAC | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 221 | 0.0045 | 5 | c.214 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44219145 | T | TAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00642.hp1 others(60): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0015others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0194a0001c0001t0002g0064a0001c0001t0002g0082others(60): Show | 63 | 221 | 0.2851 | 5 | c.175 others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar |