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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EEIG1_chr9_127935582_127985989 | 127985676 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG02622.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0008a0001c0001t0001g0039a0001c0002t0006g0025 | 4 | 342 | 0.0117 | 28 | c.-55 others(39): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 4688 | chr9 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108579772 | T | TGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG02004.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0043others(5): Show | 8 | 272 | 0.0294 | 28 | c.137 others(47): 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(21): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02896.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0030 | a0001c0001t0001g0038a0001c0001t0001g0094a0001c0001t0006g0122others(1): Show | 4 | 272 | 0.0147 | 28 | c.137 others(47): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108579772 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 272 | 0.0037 | 28 | c.137 others(47): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36151852 | C | CTTTTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0251a0002c0003t0001g0252 | 2 | 346 | 0.0058 | 28 | c.-20 others(39): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 1401 | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36165586 | A | AATTTATT others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0340a0001c0004t0011g0341 | 2 | 346 | 0.0058 | 28 | c.878 others(47): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36183888 | T | TTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0002 | a0003c0002t0020 | a0003c0002t0020g0054 | 1 | 346 | 0.0029 | 28 | c.878 others(47): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36183888 | T | TTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0237a0001c0001t0004g0230a0001c0001t0005g0050others(4): Show | 7 | 346 | 0.0202 | 28 | c.878 others(47): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01346.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0192a0001c0012t0001g0054 | 3 | 428 | 0.0070 | 28 | c.107 others(43): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0206 | 3 | 428 | 0.0070 | 28 | c.107 others(43): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89881452 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 | 1 | 284 | 0.0035 | 28 | c.410 others(47): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89881452 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02622.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0001g0070a0001c0001t0008g0179a0001c0001t0012g0238others(3): Show | 6 | 284 | 0.0211 | 28 | c.410 others(47): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89885727 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 |
a0001 | a0001c0006 | a0001c0006t0006a0001c0006t0009 | a0001c0006t0006g0262a0001c0006t0009g0263 | 2 | 284 | 0.0070 | 28 | c.410 others(47): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47351304 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0338 | 1 | 356 | 0.0028 | 28 | c.661 others(45): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244970641 | G | GCTCCGCC others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 290 | 0.0035 | 28 | c.25+ others(41): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB5_chr17_29936634_30113452 | 30041210 | A | AGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02451.hp2 |
a0005a0008 | a0005c0007a0008c0011 | a0005c0007t0002a0008c0011t0002 | a0005c0007t0002g0131a0008c0011t0002g0020a0008c0011t0002g0021 | 3 | 248 | 0.0121 | 28 | c.120 others(47): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB6_chr22_43523778_43817305 | 43618143 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0035a0002c0002a0002c0038others(4): Show | a0001c0035t0001a0002c0002t0001a0002c0038t0001others(5): Show | a0001c0035t0001g0235a0002c0002t0001g0141a0002c0002t0001g0246others(19): Show | 22 | 290 | 0.0759 | 28 | c.246 others(47): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43618165 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 290 | 0.0035 | 28 | c.246 others(47): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43618165 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02300.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0046 | a0001c0001t0001a0001c0046t0001 | a0001c0001t0001g0024a0001c0001t0001g0030a0001c0001t0001g0196others(3): Show | 6 | 290 | 0.0207 | 28 | c.246 others(47): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43618165 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 290 | 0.0035 | 28 | c.246 others(47): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43618165 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0202 | 1 | 290 | 0.0035 | 28 | c.246 others(47): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43618165 | G | GGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0240a0002c0002t0001g0245 | 2 | 290 | 0.0069 | 28 | c.246 others(47): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32875502 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 284 | 0.0035 | 28 | c.209 others(43): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFCAB8_chr20_32853923_32966845 | 32940003 | G | GCCTCCCT others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01496.hp1 HG03491.hp2 others(1): Show |
a0004a0005a0032 | a0004c0004a0005c0033a0032c0064 | a0004c0004t0003a0005c0033t0008a0032c0064t0003 | a0004c0004t0003g0058a0004c0004t0003g0059a0005c0033t0008g0113others(1): Show | 4 | 284 | 0.0141 | 28 | c.279 others(47): 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(21): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02818.hp2 |
a0040a0048 | a0040c0049a0048c0058 | a0040c0049t0001a0048c0058t0002 | a0040c0049t0001g0197a0048c0058t0002g0257 | 2 | 284 | 0.0070 | 28 | c.279 others(47): 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(21): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 NA18951.hp2 NA19064.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0004t0010 | a0001c0001t0005g0252a0001c0001t0007g0012a0001c0001t0007g0045others(1): Show | 5 | 350 | 0.0143 | 28 | c.*18 others(39): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 778 | chr2 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19892883 | A | AAATAAAA others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG03209.hp2 |
a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0319a0002c0009t0002g0320a0002c0009t0002g0322 | 3 | 344 | 0.0087 | 28 | c.172 others(47): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 9/12 | chr3 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908562 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0066 | 1 | 344 | 0.0029 | 28 | c.128 others(47): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52493365 | C | CATATATA others(21): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG02630.hp1 HG02970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0062a0002c0002t0063a0002c0002t0064 | a0001c0001t0062g0298a0002c0002t0063g0141a0002c0002t0064g0213 | 3 | 396 | 0.0076 | 28 | c.*10 others(39): 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(21): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01981.hp1 HG02615.hp1 others(2): Show |
a0001a0008 | a0001c0001a0001c0015a0008c0010 | a0001c0001t0003a0001c0001t0006a0001c0015t0003others(1): Show | a0001c0001t0003g0046a0001c0001t0003g0147a0001c0001t0006g0036others(2): Show | 5 | 221 | 0.0226 | 28 | c.175 others(47): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHC2_chrX_44142872_44348672 | 44194102 | A | ATAGTCAT others(21): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0011 | a0011c0013 | a0011c0013t0016 | a0011c0013t0016g0157 | 1 | 221 | 0.0045 | 28 | c.175 others(49): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232677207 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0177 | 1 | 382 | 0.0026 | 28 | c.586 others(45): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFHD2_chr1_15404888_15435339 | 15433800 | C | CCTGGAGA others(21): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 424 | 0.0024 | 28 | c.*50 others(39): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 3462 | chr1 | TogoVar | ||||||
EFL1_chr15_82125233_82267734 | 82211595 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03041.hp1 HG03139.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071a0002c0002t0001g0086a0002c0002t0001g0091others(1): Show | 4 | 368 | 0.0109 | 28 | c.175 others(47): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107476046 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 190 | 0.0053 | 28 | c.126 others(47): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107569373 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0089 | 1 | 190 | 0.0053 | 28 | c.125 others(49): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107569373 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0129 | 1 | 190 | 0.0053 | 28 | c.125 others(49): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107569559 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020 | a0001c0001t0012g0061a0001c0001t0020g0060 | 2 | 190 | 0.0105 | 28 | c.125 others(49): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132014011 | T | TATATATA others(21): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 412 | 0.0024 | 28 | c.*31 others(39): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 370 | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 NA19030.hp2 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0003a0003c0004t0017 | a0001c0003t0003g0033a0003c0004t0017g0281 | 2 | 412 | 0.0049 | 28 | c.*72 others(39): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55196178 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03579.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0025 | a0001c0004t0001g0166a0001c0004t0025g0016 | 2 | 250 | 0.0080 | 28 | c.270 others(47): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 109932360 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00735.hp1 others(47): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0007a0001c0013others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0059a0001c0001t0002g0071a0001c0001t0002g0084others(46): Show | 50 | 388 | 0.1289 | 28 | c.128 others(45): 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(21): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 NA18948.hp1 others(6): Show |
a0001 | a0001c0001a0001c0027 | a0001c0001t0004a0001c0001t0013a0001c0027t0004 | a0001c0001t0004g0325a0001c0001t0004g0329a0001c0001t0004g0330others(6): Show | 9 | 388 | 0.0232 | 28 | c.128 others(45): 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(21): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18953.hp1 NA18998.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0008 | a0003c0003t0005g0003a0003c0003t0005g0018a0003c0003t0005g0035others(4): Show | 8 | 388 | 0.0206 | 28 | c.128 others(45): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | chr4 | TogoVar | ||||||
EGLN3_chr14_33919227_33956074 | 33936236 | T | TATAAATA others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015a0001c0001t0027 | a0001c0001t0010g0122a0001c0001t0010g0217a0001c0001t0015g0194others(1): Show | 4 | 424 | 0.0094 | 28 | c.358 others(45): Show |
EGLN3 | ENSG00000129521.15 | transcript | ENST00000250457.9 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62900682 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0066 | 1 | 198 | 0.0051 | 28 | c.118 others(49): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHBP1_chr2_62700713_63051487 | 62900684 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 198 | 0.0051 | 28 | c.118 others(49): 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(21): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0126 | 2 | 198 | 0.0101 | 28 | c.310 others(49): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD4_chr15_41890933_41977557 | 41949016 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0191 | 1 | 360 | 0.0028 | 28 | c.413 others(45): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41949051 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01433.hp2 HG02056.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0003others(1): Show | a0001c0001t0001g0063a0001c0002t0001g0064a0001c0008t0003g0051others(1): Show | 4 | 360 | 0.0111 | 28 | c.413 others(45): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar |