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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDC3_chr15_74625558_74701024 | 74668729 | T | TGAAAGAA others(33): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 27 | 0.0370 | 40 | c.484 others(57): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar | |||||||
EDNRA_chr4_147476097_147549954 | 147542250 | G | GGGGGGGG others(33): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0055 | 1 | 278 | 0.0036 | 40 | c.114 others(57): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 a0001c0001t0003g0147 |
2 | 185 | 0.0108 | 40 | c.400 others(57): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124788710 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 80 | 0.0125 | 40 | c.291 others(55): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152902 | C | CCCCCGCC others(33): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 221 | 0.0045 | 40 | c.-60 others(49): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 578 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152991 | C | CCCCGCCC others(33): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 220 | 0.0045 | 40 | c.-51 others(49): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 489 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152991 | C | CCGCCCCC others(33): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 220 | 0.0045 | 40 | c.-51 others(49): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 489 | chr3 | TogoVar | |||||||
EEIG1_chr9_127935582_127985989 | 127985676 | T | TATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 262 | 0.0038 | 40 | c.-55 others(51): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 4688 | chr9 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89881452 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0264 | 1 | 65 | 0.0154 | 40 | c.410 others(59): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89881452 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01255.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0139 others(7): Show |
10 | 74 | 0.1351 | 40 | c.410 others(59): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89955819 | C | CGGGCTTT others(33): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0259 | 1 | 263 | 0.0038 | 40 | c.-11 others(51): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 1090 | chr14 | TogoVar | |||||||
EFCAB5_chr17_29936634_30113452 | 30097051 | T | TATACGTA others(33): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0013 | a0013c0021 | a0013c0021t0002 | a0013c0021t0002g0012 | 1 | 237 | 0.0042 | 40 | c.432 others(59): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43578800 | C | CTACATGC others(33): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03491.hp2 HG03492.hp1 |
a0001a0014 | a0001c0023a0014c0017 | a0001c0023t0001a0014c0017t0001 | a0001c0023t0001g0254 a0014c0017t0001g0282 a0014c0017t0001g0283 |
3 | 245 | 0.0122 | 40 | c.322 others(59): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 25/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43618143 | G | GAGGAAGG others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18954.hp1 NA19004.hp1 others(2): Show |
a0001a0003a0006 | a0001c0013a0003c0003a0006c0006 | a0001c0013t0001a0003c0003t0001a0006c0006t0001 | a0001c0013t0001g0188 a0003c0003t0001g0217 a0003c0003t0001g0222 others(2): Show |
5 | 182 | 0.0275 | 40 | c.246 others(59): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | |||||||
EFHC1_chr6_52415342_52502198 | 52493365 | C | CATATATA others(33): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01168.hp1 HG03130.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0025a0003c0002t0024a0004c0004t0025 | a0001c0001t0025g0110 a0003c0002t0024g0009 a0003c0002t0024g0142 others(1): Show |
4 | 129 | 0.0310 | 40 | c.*10 others(51): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 1045 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EFHC1_chr6_52415342_52502198 | 52493369 | T | TATATATA others(33): Show |
3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0007 | a0002c0007t0051 | a0002c0007t0051g0162 | 1 | 394 | 0.0025 | 40 | c.*10 others(51): 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(33): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02280.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0121 a0001c0001t0003g0136 a0001c0001t0003g0165 others(4): Show |
7 | 95 | 0.0737 | 40 | c.175 others(59): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | |||||||
EFL1_chr15_82125233_82267734 | 82211595 | G | GACACACA others(33): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp2 others(9): Show |
a0001a0002a0008 | a0001c0005a0001c0008a0002c0002others(1): Show | a0001c0005t0001a0001c0008t0001a0002c0002t0001others(1): Show | a0001c0005t0001g0024 a0001c0005t0001g0027 a0001c0005t0001g0029 others(9): Show |
12 | 175 | 0.0686 | 40 | c.175 others(59): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107476046 | C | CTATATAT others(33): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0001 | 1 | 71 | 0.0141 | 40 | c.126 others(59): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107476046 | C | CTATATAT others(33): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01433.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0152 a0001c0001t0003g0019 a0001c0001t0009g0053 others(3): Show |
6 | 76 | 0.0789 | 40 | c.126 others(59): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25046506 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0119 | 1 | 52 | 0.0192 | 40 | c.7+4 others(53): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13598958 | A | ATATATAA others(33): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0007 | a0007c0016 | a0007c0016t0004 | a0007c0016t0004g0026 | 1 | 243 | 0.0041 | 40 | c.281 others(57): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109932360 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 279 | 0.0036 | 40 | c.128 others(57): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 a0001c0001t0003g0050 |
2 | 130 | 0.0154 | 40 | c.119 others(57): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01934.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0318 a0001c0001t0019g0021 |
2 | 130 | 0.0154 | 40 | c.119 others(57): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAAATATA others(33): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0314 | 1 | 129 | 0.0078 | 40 | c.119 others(57): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44942417 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0227 | 1 | 111 | 0.0090 | 40 | c.295 others(55): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
EIF2B3_chr1_44845522_44991595 | 44984797 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 25 | 0.0400 | 40 | c.-10 others(57): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
EIF3A_chr10_119028670_119085817 | 119052368 | T | TTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01255.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0002a0005c0011t0002 | a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 others(6): Show |
9 | 17 | 0.5294 | 40 | c.219 others(59): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 14/21 | chr10 | TogoVar | |||||||
EIF3H_chr8_116637130_116760823 | 116666753 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0313 | 1 | 65 | 0.0154 | 40 | c.290 others(57): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
EIF3K_chr19_38614188_38641954 | 38637325 | C | CTTTTTTT others(33): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 308 | 0.0032 | 40 | c.*40 others(49): Show |
EIF3K | ENSG00000178982.10 | transcript | ENST00000248342.9 | protein_coding | 372 | chr19 | TogoVar | |||||||
EIF4A3_chr17_80129369_80152128 | 80145235 | T | TCGCTTCA others(33): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0134 | 1 | 418 | 0.0024 | 40 | c.170 others(56): Show |
EIF4A3 | ENSG00000141543.12 | transcript | ENST00000649764.2 | protein_coding | 1/11 | chr17 | TogoVar | |||||||
EIF4A3_chr17_80129369_80152128 | 80146992 | C | CGCCGCTG others(33): Show |
5_prime_UTR_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0154 | 1 | 403 | 0.0025 | 40 | c.-32 others(47): Show |
EIF4A3 | ENSG00000141543.12 | transcript | ENST00000649764.2 | protein_coding | 1/12 | 32 | chr17 | TogoVar | ||||||
EIF4A3_chr17_80129369_80152128 | 80147047 | C | CTGCCGCT others(33): Show |
5_prime_UTR_variant | MODIFIER | HG02040.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0056 | 2 | 147 | 0.0136 | 40 | c.-87 others(47): Show |
EIF4A3 | ENSG00000141543.12 | transcript | ENST00000649764.2 | protein_coding | 1/12 | 87 | chr17 | TogoVar | ||||||
EIF4A3_chr17_80129369_80152128 | 80147047 | C | CTGCCGCT others(33): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00735.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0013a0001c0001t0015others(6): Show | a0001c0001t0005g0003 a0001c0001t0005g0041 a0001c0001t0005g0042 others(27): Show |
57 | 202 | 0.2822 | 40 | c.-12 others(48): Show |
EIF4A3 | ENSG00000141543.12 | transcript | ENST00000649764.2 | protein_coding | 1/12 | 87 | chr17 | TogoVar | ||||||
EIF4A3_chr17_80129369_80152128 | 80147047 | C | CTGTGCCG others(33): Show |
5_prime_UTR_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0121 | 1 | 146 | 0.0068 | 40 | c.-87 others(47): Show |
EIF4A3 | ENSG00000141543.12 | transcript | ENST00000649764.2 | protein_coding | 1/12 | 87 | chr17 | TogoVar | ||||||
EIF4A3_chr17_80129369_80152128 | 80147066 | T | TGTGCCGC others(33): Show |
5_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0206 | 1 | 417 | 0.0024 | 40 | c.-10 others(49): Show |
EIF4A3 | ENSG00000141543.12 | transcript | ENST00000649764.2 | protein_coding | 1/12 | 106 | chr17 | TogoVar | ||||||
EIF4E_chr4_98874276_98934133 | 98896224 | A | AAAATAAA others(33): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0004g0167 others(1): Show |
4 | 276 | 0.0145 | 40 | c.126 others(57): Show |
EIF4E | ENSG00000151247.13 | transcript | ENST00000450253.7 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20989056 | A | AGGAGGGG others(33): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01496.hp1 HG03831.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0185 others(7): Show |
10 | 113 | 0.0885 | 40 | c.178 others(57): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20989081 | G | GGGAGGGG others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01099.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0002 a0001c0001t0002g0027 a0001c0001t0002g0037 others(8): Show |
11 | 220 | 0.0500 | 40 | c.178 others(57): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20989081 | G | GGGAGGGG others(33): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0205 |
2 | 211 | 0.0095 | 40 | c.178 others(57): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(33): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 others(7): Show |
10 | 61 | 0.1639 | 40 | c.259 others(59): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(33): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0002g0010 others(1): Show |
4 | 55 | 0.0727 | 40 | c.259 others(59): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELAPOR1_chr1_109109115_109211781 | 109113413 | A | AGAGAGAG others(33): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0012 | a0005c0012t0007 | a0005c0012t0007g0091 | 1 | 224 | 0.0045 | 40 | c.-77 others(49): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 701 | chr1 | TogoVar | |||||||
ELAPOR1_chr1_109109115_109211781 | 109113417 | A | AGAGAGAG others(33): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0090 | 1 | 228 | 0.0044 | 40 | c.-76 others(49): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 697 | chr1 | TogoVar | |||||||
ELAPOR1_chr1_109109115_109211781 | 109177346 | G | GGCTGCCG others(33): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 |
3 | 228 | 0.0132 | 40 | c.952 others(57): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109177514 | G | GCGCTCCT others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0023 others(134): Show |
137 | 228 | 0.6009 | 40 | c.952 others(57): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAVL1_chr19_7953573_8010641 | 7957388 | A | AGAAAGAA others(33): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0177 | 1 | 91 | 0.0110 | 40 | c.*60 others(51): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1184 | chr19 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957388 | A | AGAAAGAA others(33): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 a0001c0001t0002g0181 |
2 | 92 | 0.0217 | 40 | c.*60 others(51): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1184 | chr19 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957388 | A | AGAAAGAA others(33): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 91 | 0.0110 | 40 | c.*60 others(51): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1184 | chr19 | TogoVar |