view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDA_chrX_69611113_70044472 | 69655762 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01167.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 others(12): Show |
15 | 48 | 0.3125 | 32 | c.396 others(51): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDC3_chr15_74625558_74701024 | 74668729 | T | TGAAAGAA others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00673.hp2 others(24): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0140 others(24): Show |
27 | 53 | 0.5094 | 32 | c.484 others(49): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84252493 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02922.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0061 a0001c0001t0003g0060 a0001c0001t0003g0067 |
3 | 20 | 0.1500 | 32 | c.196 others(49): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84262659 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0084 | 1 | 2 | 0.5000 | 32 | c.68- others(47): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769218 | C | CACAAAAA others(25): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 193 | 0.0052 | 32 | c.400 others(49): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124788710 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02015.hp1 HG02165.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0246 others(7): Show |
10 | 89 | 0.1124 | 32 | c.291 others(47): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124788710 | T | TTTTATAT others(25): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 |
3 | 82 | 0.0366 | 32 | c.291 others(47): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
EEF1B2_chr2_206154895_206167928 | 206161960 | T | TTTTTTGT others(25): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 358 | 0.0028 | 32 | c.331 others(45): Show |
EEF1B2 | ENSG00000114942.15 | transcript | ENST00000392222.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128152894 | A | ACGCCCCC others(25): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0177 |
2 | 95 | 0.0211 | 32 | c.-61 others(41): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 586 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152895 | C | CGCCCCCC others(25): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG01952.hp2 HG01981.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 others(12): Show |
15 | 252 | 0.0595 | 32 | c.-61 others(41): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 585 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152896 | G | GCCCCCCC others(25): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG02258.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0003 | a0001c0001t0001g0034 a0001c0001t0001g0069 a0002c0005t0003g0048 |
3 | 263 | 0.0114 | 32 | c.-61 others(41): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 584 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152896 | G | GCCCCCCC others(25): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 261 | 0.0038 | 32 | c.-61 others(41): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 584 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152896 | G | GCCCCCCC others(25): Show |
upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 261 | 0.0038 | 32 | c.-61 others(41): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 584 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128348271 | C | CGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01496.hp1 others(25): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0008others(1): Show | a0001c0002t0001a0001c0006t0001a0001c0008t0001others(1): Show | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(25): Show |
28 | 132 | 0.2121 | 32 | c.144 others(51): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEIG1_chr9_127935582_127985989 | 127985663 | T | TTATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01884.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0021others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(19): Show |
27 | 188 | 0.1436 | 32 | c.-55 others(43): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 4675 | chr9 | TogoVar | |||||||
EEIG1_chr9_127935582_127985989 | 127985676 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 262 | 0.0038 | 32 | c.-55 others(43): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 4688 | chr9 | TogoVar | |||||||
EEIG1_chr9_127935582_127985989 | 127985676 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 262 | 0.0038 | 32 | c.-55 others(43): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 4688 | chr9 | TogoVar | |||||||
EEIG2_chr1_108555100_108644322 | 108579772 | T | TGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02559.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0140 a0001c0001t0001g0145 |
3 | 44 | 0.0682 | 32 | c.137 others(51): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108579772 | T | TGTGAGAG others(25): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 42 | 0.0238 | 32 | c.137 others(51): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89881452 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG01070.hp1 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0058 a0001c0001t0001g0127 a0001c0001t0001g0140 others(48): Show |
51 | 115 | 0.4435 | 32 | c.410 others(51): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47351304 | T | TGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0335 | 1 | 325 | 0.0031 | 32 | c.661 others(49): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43618143 | G | GAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01943.hp2 HG02896.hp1 others(7): Show |
a0002a0003a0029others(1): Show | a0002c0002a0003c0003a0029c0043others(1): Show | a0002c0002t0001a0003c0003t0001a0029c0043t0001others(1): Show | a0002c0002t0001g0242 a0002c0002t0001g0243 a0003c0003t0001g0072 others(7): Show |
10 | 187 | 0.0535 | 32 | c.246 others(51): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43618165 | G | GGAAGGAA others(25): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0204 |
2 | 141 | 0.0142 | 32 | c.246 others(51): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43618165 | G | GGAAGGAA others(25): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0075 | 1 | 140 | 0.0071 | 32 | c.246 others(51): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43675312 | G | GTATATTA others(25): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01934.hp1 HG02280.hp2 |
a0002a0012 | a0002c0019a0012c0015 | a0002c0019t0001a0012c0015t0001 | a0002c0019t0001g0123 a0002c0019t0001g0124 a0012c0015t0001g0102 |
3 | 110 | 0.0273 | 32 | c.141 others(51): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 13/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43784547 | A | ATACACAT others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 |
a0001 | a0001c0001a0001c0046 | a0001c0001t0001a0001c0046t0001 | a0001c0001t0001g0258 a0001c0046t0001g0067 |
2 | 271 | 0.0074 | 32 | c.-7- others(47): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32939125 | C | CCCTTTCT others(25): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0074 | 1 | 78 | 0.0128 | 32 | c.279 others(51): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | chr20 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32940003 | G | GCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01891.hp1 HG02109.hp1 others(3): Show |
a0004a0005a0008others(1): Show | a0004c0004a0005c0013a0008c0007others(1): Show | a0004c0004t0003a0005c0013t0004a0008c0007t0003others(1): Show | a0004c0004t0003g0068 a0004c0004t0003g0086 a0005c0013t0004g0099 others(3): Show |
6 | 167 | 0.0359 | 32 | c.279 others(51): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32940023 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0132 | 1 | 182 | 0.0055 | 32 | c.279 others(51): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFEMP1_chr2_55860967_55928782 | 55865188 | A | AATATATA others(25): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0235 | 1 | 265 | 0.0038 | 32 | c.*18 others(43): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 778 | chr2 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19894989 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03516.hp2 |
a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0014 | 2 | 279 | 0.0072 | 32 | c.172 others(51): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 9/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19908562 | A | AAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0082 | 1 | 214 | 0.0047 | 32 | c.128 others(51): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHC1_chr6_52415342_52502198 | 52493365 | C | CATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01069.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0011a0001c0001t0027a0001c0001t0029others(5): Show | a0001c0001t0011g0026 a0001c0001t0011g0112 a0001c0001t0011g0129 others(9): Show |
12 | 137 | 0.0876 | 32 | c.*10 others(43): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 1045 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC1_chr6_52415342_52502198 | 52493373 | T | TATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0010 | a0001c0010t0050 | a0001c0010t0050g0204 | 1 | 393 | 0.0025 | 32 | c.*10 others(43): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 1045 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC2_chrX_44142872_44348672 | 44187135 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01975.hp1 HG02148.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0014 a0001c0001t0003g0134 a0001c0001t0011g0051 others(4): Show |
7 | 95 | 0.0737 | 32 | c.175 others(51): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | |||||||
EFHD1_chr2_232628604_232687776 | 232677207 | T | TACACACA others(25): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0159 | 1 | 48 | 0.0208 | 32 | c.586 others(49): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82211595 | G | GACACACA others(25): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02015.hp2 others(10): Show |
a0001a0002 | a0001c0005a0001c0008a0002c0002 | a0001c0005t0001a0001c0008t0001a0002c0002t0001 | a0001c0005t0001g0016 a0001c0005t0001g0022 a0001c0008t0001g0351 others(10): Show |
13 | 176 | 0.0739 | 32 | c.175 others(51): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107399310 | G | GAAACGGA others(25): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0047 | 1 | 190 | 0.0053 | 32 | c.419 others(51): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 NA18522.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0006a0003c0004t0008 | a0001c0001t0006g0145 a0003c0004t0008g0147 |
2 | 29 | 0.0690 | 32 | c.*72 others(43): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25046506 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02015.hp2 NA18943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 others(2): Show |
5 | 56 | 0.0893 | 32 | c.7+4 others(45): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13613157 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0024 | a0002c0024t0004 | a0002c0024t0004g0266 | 1 | 128 | 0.0078 | 32 | c.779 others(49): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109932360 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 279 | 0.0036 | 32 | c.128 others(49): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109932376 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA18985.hp2 NA18998.hp2 NA19082.hp2 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0004a0001c0001t0013a0007c0008t0003 | a0001c0001t0004g0334 a0001c0001t0013g0340 a0007c0008t0003g0369 |
3 | 358 | 0.0084 | 32 | c.128 others(49): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109932382 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0057 | 1 | 340 | 0.0029 | 32 | c.128 others(49): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | chr4 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62900682 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 183 | 0.0055 | 32 | c.118 others(53): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 63019830 | G | GGGAGGGA others(25): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03710.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0173 |
3 | 41 | 0.0732 | 32 | c.310 others(53): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47731279 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0006 | 2 | 283 | 0.0071 | 32 | c.915 others(49): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41902839 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | NA18970.hp2 NA19056.hp2 NA19084.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0001 | a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0173 others(1): Show |
4 | 137 | 0.0292 | 32 | c.109 others(51): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716360 | T | TGTGGTGG others(25): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 127 | 0.0079 | 32 | c.86- others(45): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716360 | T | TGTGTTGG others(25): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0063 | 1 | 127 | 0.0079 | 32 | c.86- others(45): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |