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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDARADD_chr1_236389286_236489930 | 236431927 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0114a0001c0001t0001g0118a0001c0001t0002g0117others(4): Show | 7 | 294 | 0.0238 | 5 | c.219 others(22): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236488827 | G | GTTTAT | downstream_gene_variant | MODIFIER | HG03017.hp1 HG03942.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0078a0001c0001t0013g0142a0001c0001t0013g0204 | 3 | 294 | 0.0102 | 5 | c.*61 others(16): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 3898 | chr1 | TogoVar | ||||||
EDAR_chr2_108889471_108994220 | 108990600 | C | CAGAAA | upstream_gene_variant | MODIFIER | NA18963.hp2 NA18969.hp2 NA18974.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0192a0001c0001t0002g0193a0001c0001t0002g0194others(1): Show | 4 | 226 | 0.0177 | 5 | c.-16 others(16): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1381 | chr2 | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69635566 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0131 | 2 | 226 | 0.0089 | 5 | c.396 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69670183 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00733.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0043others(27): Show | 30 | 226 | 0.1327 | 5 | c.396 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69793570 | G | GTTTTT | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 226 | 0.0044 | 5 | c.397 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69840618 | T | TTAAGA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(91): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0039others(90): Show | 94 | 226 | 0.4159 | 5 | c.397 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69849021 | A | ATTCTC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(93): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0039others(92): Show | 96 | 226 | 0.4248 | 5 | c.397 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69854189 | G | GTTTGT | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 | 1 | 226 | 0.0044 | 5 | c.397 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69978318 | T | TAAAAA | intron_variant | MODIFIER | NA18906.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0113 | 2 | 226 | 0.0089 | 5 | c.502 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69978511 | A | AAAAAT | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 226 | 0.0044 | 5 | c.502 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69978517 | A | AAAAAT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01069.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0055others(63): Show | 66 | 226 | 0.2920 | 5 | c.502 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69978517 | A | AATAAT | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 226 | 0.0044 | 5 | c.502 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69978517 | A | ATAAAT | intron_variant | MODIFIER | HG03654.hp1 NA18953.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0101a0001c0001t0001g0177 | 3 | 226 | 0.0133 | 5 | c.502 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 70009564 | G | GGTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01168.hp1 HG01891.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0028a0001c0001t0001g0072others(22): Show | 25 | 226 | 0.1106 | 5 | c.503 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 70022310 | C | CTTATT | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0036a0001c0001t0001g0137a0001c0001t0001g0140others(4): Show | 7 | 226 | 0.0310 | 5 | c.503 others(20): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 70039755 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00673.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0019others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0008a0001c0001t0002g0014others(40): Show | 43 | 226 | 0.1903 | 5 | c.*41 others(16): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 284 | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 70043058 | G | GCTGTC | downstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 226 | 0.0044 | 5 | c.*74 others(16): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 3587 | chrX | TogoVar | ||||||
EDDM13_chr19_56267748_56315454 | 56276506 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(110): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0011others(96): Show | 113 | 396 | 0.2854 | 5 | c.103 others(20): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDDM13_chr19_56267748_56315454 | 56302581 | C | CCTCTT | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0071a0001c0001t0001g0081a0001c0001t0001g0082others(6): Show | 9 | 396 | 0.0227 | 5 | c.423 others(20): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDEM1_chr3_5182707_5224958 | 5220548 | T | TTTTTA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(226): Show | 299 | 374 | 0.7995 | 5 | c.*46 others(16): Show |
EDEM1 | ENSG00000134109.11 | transcript | ENST00000256497.9 | protein_coding | 591 | chr3 | TogoVar | ||||||
EDEM1_chr3_5182707_5224958 | 5223583 | C | CAAAAT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(326): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(253): Show | 329 | 374 | 0.8797 | 5 | c.*76 others(16): Show |
EDEM1 | ENSG00000134109.11 | transcript | ENST00000256497.9 | protein_coding | 3626 | chr3 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184704649 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02132.hp2 HG02647.hp1 others(3): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0002 | a0001c0003t0003a0001c0004t0036a0002c0002t0002 | a0001c0003t0003g0043a0001c0003t0003g0075a0001c0003t0003g0079others(3): Show | 6 | 324 | 0.0185 | 5 | c.220 others(24): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184743474 | A | AAAAAT | intron_variant | MODIFIER | NA18612.hp1 NA18975.hp1 NA18986.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0007a0001c0001t0028a0005c0007t0007 | a0001c0001t0007g0095a0001c0001t0007g0142a0001c0001t0028g0145others(1): Show | 5 | 324 | 0.0154 | 5 | c.205 others(22): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 2/19 | chr1 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84006343 | T | TAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0021a0001c0001t0001g0035a0001c0001t0001g0069others(35): Show | 38 | 158 | 0.2405 | 5 | c.113 others(26): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84020076 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0069a0001c0001t0001g0094others(23): Show | 26 | 158 | 0.1646 | 5 | c.113 others(26): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84027546 | T | TTTTTA | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01123.hp2 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0061others(22): Show | 25 | 158 | 0.1582 | 5 | c.113 others(26): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84029256 | C | CAAACA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01123.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0002g0027others(6): Show | 9 | 158 | 0.0570 | 5 | c.113 others(26): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84117020 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0013a0001c0001t0001g0021a0001c0001t0001g0059others(29): Show | 32 | 158 | 0.2025 | 5 | c.470 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84160744 | T | TCTTTC | intron_variant | MODIFIER | HG01993.hp1 HG02895.hp1 HG03927.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0049a0001c0001t0002g0080a0001c0001t0003g0133others(2): Show | 5 | 158 | 0.0317 | 5 | c.355 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84217721 | A | ACACAC | intron_variant | MODIFIER | HG02523.hp1 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0004 | a0001c0001t0007g0108a0001c0002t0004g0062 | 2 | 158 | 0.0127 | 5 | c.226 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84238665 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0059a0001c0001t0001g0061others(11): Show | 14 | 158 | 0.0886 | 5 | c.197 others(22): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84262659 | G | GTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01106.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0154a0001c0001t0003g0104a0001c0001t0003g0122others(6): Show | 9 | 158 | 0.0570 | 5 | c.68- others(20): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDN1_chr6_12285361_12302194 | 12294920 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(229): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(52): Show | 232 | 452 | 0.5133 | 5 | c.533 others(20): Show |
EDN1 | ENSG00000078401.7 | transcript | ENST00000379375.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147525595 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(101): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0104a0001c0001t0002g0196a0001c0001t0002g0197others(99): Show | 104 | 280 | 0.3714 | 5 | c.548 others(22): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDNRB_chr13_77890487_77923831 | 77908043 | A | AAAGAG | intron_variant | MODIFIER | HG00639.hp1 HG01257.hp2 HG01928.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0014 | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0048others(6): Show | 13 | 406 | 0.0320 | 5 | c.484 others(22): Show |
EDNRB | ENSG00000136160.17 | transcript | ENST00000646607.2 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92865714 | T | TTTTTA | intron_variant | MODIFIER | HG01071.hp2 HG01934.hp2 HG02083.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(3): Show | a0001c0001t0001g0076a0001c0001t0001g0091a0001c0001t0005g0052others(4): Show | 7 | 244 | 0.0287 | 5 | c.118 others(20): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92922959 | A | AAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(64): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(26): Show | a0001c0001t0001g0049a0001c0001t0001g0054a0001c0001t0001g0055others(64): Show | 67 | 244 | 0.2746 | 5 | c.24+ others(20): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86254048 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(38): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0010a0001c0002t0001g0019others(28): Show | 41 | 392 | 0.1046 | 5 | c.361 others(22): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EED_chr11_86239753_86283810 | 86258554 | G | GTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG01496.hp1 HG01975.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0009a0001c0001t0001g0036a0001c0001t0001g0143others(7): Show | 13 | 392 | 0.0332 | 5 | c.634 others(20): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 6/11 | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86267766 | A | ATTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG03130.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0146a0001c0001t0001g0148a0001c0001t0001g0151others(10): Show | 13 | 392 | 0.0332 | 5 | c.861 others(20): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EEF1A1_chr6_73510750_73526032 | 73514699 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0004a0001c0001t0008g0008 | 8 | 424 | 0.0189 | 5 | c.*31 others(16): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 1050 | chr6 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73524789 | T | TATATA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0001a0001c0001t0004g0004a0001c0001t0004g0046others(3): Show | 53 | 424 | 0.1250 | 5 | c.-38 others(16): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3758 | chr6 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492040 | T | TGGGGA | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020 | 6 | 374 | 0.0160 | 5 | c.772 others(22): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20760104 | C | CAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01261.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0044a0001c0001t0001g0046others(11): Show | 14 | 348 | 0.0402 | 5 | c.-19 others(22): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20760123 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(138): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0014others(134): Show | 141 | 348 | 0.4052 | 5 | c.-19 others(22): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20765405 | G | GTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0183a0001c0001t0001g0196a0001c0001t0001g0199others(46): Show | 49 | 348 | 0.1408 | 5 | c.-19 others(22): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20776417 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01891.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0195a0001c0001t0001g0197others(15): Show | 18 | 348 | 0.0517 | 5 | c.-25 others(16): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2457 | chr13 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124774406 | A | AAAAAG | intron_variant | MODIFIER | HG01192.hp1 HG01515.hp2 HG01517.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0002c0002t0001others(1): Show | a0001c0001t0001g0088a0001c0001t0001g0090a0001c0001t0001g0102others(15): Show | 18 | 358 | 0.0503 | 5 | c.399 others(20): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124779747 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(123): Show | 126 | 358 | 0.3520 | 5 | c.292 others(22): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar |