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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDIL3_chr5_83935554_84389880 | 84070606 | AGTGTGT | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01433.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0021a0001c0001t0001g0023others(17): Show | 20 | 158 | 0.1266 | -6 | c.652 others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84075461 | GCTTCTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122a0001c0001t0003g0153 | 2 | 158 | 0.0127 | -6 | c.652 others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84075890 | GCACACA | G | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039a0001c0001t0002g0082 | 2 | 158 | 0.0127 | -6 | c.652 others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84137184 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01123.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0088a0001c0001t0001g0106a0001c0001t0002g0027others(12): Show | 15 | 158 | 0.0949 | -6 | c.469 others(19): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84176198 | AATATAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0059a0001c0001t0001g0069others(12): Show | 15 | 158 | 0.0949 | -6 | c.355 others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84182270 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0023a0001c0001t0001g0028a0001c0001t0001g0067others(46): Show | 49 | 158 | 0.3101 | -6 | c.227 others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84190579 | GTATATA | G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00639.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0069others(14): Show | 17 | 158 | 0.1076 | -6 | c.227 others(25): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84217721 | AACACAC | A | intron_variant | MODIFIER | HG01243.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0031a0001c0002t0001g0112 | 2 | 158 | 0.0127 | -6 | c.226 others(25): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84295165 | TAATATA | T | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0142a0001c0002t0001g0143 | 2 | 158 | 0.0127 | -6 | c.68- others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84303808 | CTGTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0059a0001c0001t0001g0094a0001c0001t0001g0106others(12): Show | 15 | 158 | 0.0949 | -6 | c.68- others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84303844 | GTGTGTT | G | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0044a0001c0001t0002g0053a0001c0002t0001g0144 | 3 | 158 | 0.0190 | -6 | c.68- others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84326516 | AAAATGG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0019others(52): Show | 55 | 158 | 0.3481 | -6 | c.67+ others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84340534 | CTATATA | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01109.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0049a0001c0001t0001g0070a0001c0001t0001g0074others(9): Show | 12 | 158 | 0.0760 | -6 | c.67+ others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84361270 | AACACAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0142a0001c0001t0003g0103a0001c0002t0001g0143 | 3 | 158 | 0.0190 | -6 | c.67+ others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84371446 | TATATAG | T | intron_variant | MODIFIER | HG02602.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0005others(1): Show | a0001c0001t0002g0121a0001c0002t0003g0052a0001c0003t0005g0051others(2): Show | 5 | 158 | 0.0317 | -6 | c.67+ others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84371448 | TATAGAG | T | intron_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG01258.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0115a0001c0001t0001g0120a0001c0001t0001g0149others(12): Show | 15 | 158 | 0.0949 | -6 | c.67+ others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84371450 | TAGAGAG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0059a0001c0001t0001g0106a0001c0001t0001g0109others(12): Show | 15 | 158 | 0.0949 | -6 | c.67+ others(23): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDN1_chr6_12285361_12302194 | 12287712 | TCACACA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(128): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(40): Show | 131 | 452 | 0.2898 | -6 | c.-29 others(17): Show |
EDN1 | ENSG00000078401.7 | transcript | ENST00000379375.6 | protein_coding | 2648 | chr6 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147490147 | TCACACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0104a0001c0001t0003g0145a0001c0001t0003g0146others(72): Show | 77 | 280 | 0.2750 | -6 | c.420 others(23): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147505327 | ATTTTTT | A | intron_variant | MODIFIER | HG01243.hp1 HG02738.hp1 HG02738.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0003g0236a0001c0001t0006g0203a0001c0001t0007g0205others(11): Show | 14 | 280 | 0.0500 | -6 | c.421 others(25): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EEA1_chr12_92765637_92934295 | 92826726 | AAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(42): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004a0002c0003t0016others(3): Show | a0002c0003t0002g0001a0002c0003t0002g0013a0002c0003t0002g0144others(41): Show | 45 | 244 | 0.1844 | -6 | c.140 others(23): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 12/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92843803 | AATACTT | A | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG02976.hp1 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0010a0002c0004t0033 | a0002c0004t0010g0229a0002c0004t0010g0230a0002c0004t0010g0231others(4): Show | 7 | 244 | 0.0287 | -6 | c.799 others(23): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 9/28 | chr12 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73522394 | TTATTTA | T | upstream_gene_variant | MODIFIER | NA18943.hp1 NA18973.hp1 NA18990.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 8 | 424 | 0.0189 | -6 | c.-14 others(17): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 1363 | chr6 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73522606 | CTTTCTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0023others(29): Show | 227 | 424 | 0.5354 | -6 | c.-16 others(17): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 1575 | chr6 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73524768 | CTATATA | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01169.hp2 HG01256.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030 | a0001c0001t0002g0002a0001c0001t0002g0058a0001c0001t0030g0054 | 9 | 424 | 0.0212 | -6 | c.-38 others(17): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3737 | chr6 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20748720 | TTTTTGG | T | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp2 HG02897.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188a0001c0001t0001g0190a0001c0001t0001g0191others(5): Show | 8 | 348 | 0.0230 | -6 | c.144 others(23): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20754741 | CAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01516.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0188a0001c0001t0001g0190a0001c0001t0001g0191others(16): Show | 19 | 348 | 0.0546 | -6 | c.144 others(23): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20764880 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00741.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0011a0001c0001t0001g0144a0001c0001t0001g0145others(19): Show | 23 | 348 | 0.0661 | -6 | c.-19 others(23): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124757166 | CCACACA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00609.hp2 others(26): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0327a0001c0001t0003g0018a0001c0001t0003g0019others(26): Show | 29 | 358 | 0.0810 | -6 | c.*33 others(17): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 667 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124788710 | TTATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(5): Show | 8 | 358 | 0.0224 | -6 | c.291 others(21): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124792508 | GTTTTGT | G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0307a0001c0001t0004g0308a0001c0001t0004g0309others(16): Show | 19 | 358 | 0.0531 | -6 | c.-68 others(15): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 622 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124795595 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01099.hp2 others(22): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0150a0001c0001t0001g0169a0001c0001t0001g0170others(22): Show | 25 | 358 | 0.0698 | -6 | c.-37 others(17): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3709 | chr10 | TogoVar | ||||||
EEF1AKMT4_chr3_184244672_184263759 | 184263637 | AAGAGAG | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(63): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(32): Show | 66 | 378 | 0.1746 | -6 | c.*50 others(17): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 4879 | chr3 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8099751 | AACACAC | A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0195a0001c0001t0001g0209others(6): Show | 9 | 442 | 0.0204 | -6 | c.88- others(21): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | AATATAT | A | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG02080.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042a0001c0001t0001g0300a0001c0001t0001g0307others(6): Show | 10 | 442 | 0.0226 | -6 | c.87+ others(21): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1G_chr11_62554596_62578891 | 62578063 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG03704.hp1 HG03942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0084others(1): Show | 5 | 262 | 0.0191 | -6 | c.-42 others(17): Show |
EEF1G | ENSG00000254772.10 | transcript | ENST00000329251.5 | protein_coding | 4173 | chr11 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22217160 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp2 others(101): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(18): Show | a0001c0001t0001g0187a0001c0001t0006g0143a0001c0001t0009g0023others(100): Show | 104 | 290 | 0.3586 | -6 | c.-76 others(23): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22244269 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01256.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(26): Show | 33 | 290 | 0.1138 | -6 | c.247 others(21): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22248041 | ATTTATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(159): Show |
a0001a0002a0003others(5): Show | a0001c0002a0002c0003a0003c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(31): Show | a0001c0002t0001g0120a0001c0002t0001g0121a0001c0002t0001g0122others(158): Show | 162 | 290 | 0.5586 | -6 | c.348 others(21): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22292518 | TACACAC | T | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01891.hp2 HG02109.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0009a0001c0002t0005a0001c0002t0023others(1): Show | a0001c0001t0009g0027a0001c0002t0005g0055a0001c0002t0005g0071others(16): Show | 20 | 290 | 0.0690 | -6 | c.*85 others(17): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 3781 | chr16 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128207566 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(50): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0005a0001c0009t0001 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(50): Show | 53 | 272 | 0.1949 | -6 | c.317 others(25): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128246230 | GCACACA | G | intron_variant | MODIFIER | HG01978.hp1 HG02132.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0139a0001c0001t0001g0225 | 3 | 272 | 0.0110 | -6 | c.317 others(21): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128367036 | GCCTTCT | G | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp2 HG02809.hp1 others(3): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0025a0003c0004t0001g0070a0003c0004t0001g0210others(3): Show | 6 | 272 | 0.0221 | -6 | c.160 others(25): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128398845 | AGGGTGG | A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(72): Show | 75 | 272 | 0.2757 | -6 | c.160 others(25): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEIG1_chr9_127935582_127985989 | 127939490 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG02071.hp1 others(10): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0004a0001c0006t0004 | a0001c0003t0004g0010a0001c0003t0004g0027a0001c0003t0004g0114others(6): Show | 13 | 342 | 0.0380 | -6 | c.*36 others(17): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 1091 | chr9 | TogoVar | ||||||
EEIG1_chr9_127935582_127985989 | 127985713 | GTGTATA | G | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0179others(1): Show | 6 | 342 | 0.0175 | -6 | c.-55 others(17): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 4725 | chr9 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108586314 | GGTGTGT | G | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0022 | a0001c0001t0021g0158a0001c0001t0021g0159a0001c0001t0022g0173 | 3 | 272 | 0.0110 | -6 | c.138 others(25): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108625772 | CTCTGTG | C | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0177a0001c0001t0010g0178a0001c0001t0010g0179others(2): Show | 5 | 272 | 0.0184 | -6 | c.556 others(23): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108631962 | AAATTAG | A | intron_variant | MODIFIER | NA18952.hp1 NA18963.hp1 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0055a0001c0001t0001g0128 | 3 | 272 | 0.0110 | -6 | c.104 others(25): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36150970 | TGTGTGG | T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01169.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0080a0001c0001t0001g0089a0001c0001t0001g0111others(29): Show | 32 | 346 | 0.0925 | -6 | c.-28 others(17): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2283 | chr7 | TogoVar |