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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERC1_chr12_986223_1500931 | 1122373 | G | GTCTCTAT others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0026 | 1 | 162 | 0.0062 | 22 | c.156 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122373 | G | GTCTCTAT others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02602.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0103a0001c0001t0109a0001c0001t0121 | a0001c0001t0103g0132 a0001c0001t0109g0014 a0001c0001t0121g0011 |
3 | 162 | 0.0185 | 22 | c.156 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122439 | G | GTCTCTAT others(15): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01257.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0112a0001c0001t0113a0001c0001t0114 | a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 |
3 | 162 | 0.0185 | 22 | c.156 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1196838 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02818.hp2 HG02886.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0023a0001c0001t0034a0001c0001t0061others(3): Show | a0001c0001t0023g0162 a0001c0001t0034g0161 a0001c0001t0061g0153 others(3): Show |
6 | 162 | 0.0370 | 22 | c.235 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1208957 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0041 | 1 | 162 | 0.0062 | 22 | c.235 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1216607 | A | AGGAGGGA others(15): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02572.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0057a0002c0002t0005 | a0001c0001t0057g0156 a0002c0002t0005g0133 |
2 | 162 | 0.0124 | 22 | c.235 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1216621 | G | GCGGGGGG others(15): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0092 | a0001c0003t0092g0004 | 1 | 162 | 0.0062 | 22 | c.235 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1255621 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0117 | 1 | 162 | 0.0062 | 22 | c.248 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1353069 | C | CACTCAGG others(15): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0074a0002c0002t0099 | a0001c0001t0005g0041 a0001c0001t0074g0039 a0002c0002t0099g0131 |
3 | 162 | 0.0185 | 22 | c.278 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1402614 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0042 | 1 | 162 | 0.0062 | 22 | c.292 others(41): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1463697 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01952.hp2 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0057a0002c0002t0048 | a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0057g0156 others(1): Show |
4 | 162 | 0.0247 | 22 | c.321 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1493544 | A | AATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0118 | 1 | 162 | 0.0062 | 22 | c.*33 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3316 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1493548 | A | AAAAAATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0046 | 1 | 162 | 0.0062 | 22 | c.*33 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3320 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1493548 | A | AAAATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0157 | 1 | 162 | 0.0062 | 22 | c.*33 others(33): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3320 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 56313001 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 74 | 0.0135 | 22 | c.658 others(41): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
ERCC1_chr19_45402334_45428917 | 45410565 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG02698.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0288 a0001c0001t0003g0028 a0001c0001t0003g0030 others(4): Show |
9 | 420 | 0.0214 | 22 | c.844 others(37): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
ERCC2_chr19_45344837_45375573 | 45372147 | T | TGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0025 | a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0104 others(4): Show |
9 | 412 | 0.0218 | 22 | c.-16 others(33): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 1575 | chr19 | TogoVar | |||||||
ERCC5_chr13_102841032_102880995 | 102864126 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 394 | 0.0025 | 22 | c.195 others(41): Show |
ERCC5 | ENSG00000134899.24 | transcript | ENST00000652225.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95907826 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0215 | 1 | 392 | 0.0026 | 22 | c.788 others(37): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95907838 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01175.hp2 HG02647.hp2 others(2): Show |
a0001a0004a0010 | a0001c0005a0004c0004a0010c0012 | a0001c0005t0009a0001c0005t0033a0004c0004t0013others(1): Show | a0001c0005t0009g0225 a0001c0005t0033g0252 a0004c0004t0013g0234 others(2): Show |
5 | 392 | 0.0128 | 22 | c.788 others(37): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6_chr10_49449470_49544121 | 49526115 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0138 | 1 | 388 | 0.0026 | 22 | c.653 others(39): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
ERCC6_chr10_49510198_49544121 | 49526115 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 402 | 0.0025 | 22 | c.653 others(39): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000447839.7 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
EREG_chr4_74360145_74393749 | 74363493 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02071.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0018others(2): Show | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0043 others(7): Show |
12 | 358 | 0.0335 | 22 | c.-18 others(33): Show |
EREG | ENSG00000124882.4 | transcript | ENST00000244869.3 | protein_coding | 1651 | chr4 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 334 | 0.0030 | 22 | c.83- others(37): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 334 | 0.0030 | 22 | c.83- others(37): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03492.hp2 HG03654.hp2 HG03669.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0274 a0001c0001t0002g0020 a0001c0001t0003g0044 others(1): Show |
4 | 334 | 0.0120 | 22 | c.83- others(37): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATGT others(15): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 334 | 0.0030 | 22 | c.83- others(37): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATGTGT others(15): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0109 | 1 | 334 | 0.0030 | 22 | c.83- others(37): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893935 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0028g0088 |
3 | 334 | 0.0090 | 22 | c.83- others(37): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893935 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 a0001c0001t0002g0333 |
2 | 334 | 0.0060 | 22 | c.83- others(37): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172903828 | C | CGAACCCT others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18942.hp1 NA18969.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0162 others(6): Show |
9 | 334 | 0.0270 | 22 | c.156 others(39): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172903968 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 334 | 0.0030 | 22 | c.156 others(39): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC3_chr20_35537078_35562634 | 35553020 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0177 |
2 | 364 | 0.0055 | 22 | c.686 others(39): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38407634 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02896.hp1 HG02897.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0179 others(5): Show |
8 | 360 | 0.0222 | 22 | c.389 others(39): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44259689 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0204 a0001c0001t0001g0221 |
3 | 340 | 0.0088 | 22 | c.832 others(41): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44342824 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 340 | 0.0029 | 22 | c.212 others(39): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44357722 | T | TGGGGGAA others(15): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 340 | 0.0029 | 22 | c.-26 others(33): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2466 | chr1 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTG others(15): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 378 | 0.0027 | 22 | c.169 others(39): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTG others(15): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02698.hp2 HG03834.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 a0001c0001t0002g0263 a0001c0001t0002g0275 others(2): Show |
5 | 378 | 0.0132 | 22 | c.169 others(39): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH2_chr2_170765378_170803977 | 170767747 | G | GTATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 390 | 0.0026 | 22 | c.-29 others(33): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 2630 | chr2 | TogoVar | |||||||
ERICH6B_chr13_45536294_45620739 | 45577276 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG03831.hp1 others(3): Show |
a0004a0005a0007 | a0004c0004a0005c0005a0007c0007 | a0004c0004t0001a0005c0005t0001a0007c0007t0001 | a0004c0004t0001g0084 a0004c0004t0001g0225 a0004c0004t0001g0250 others(3): Show |
6 | 326 | 0.0184 | 22 | c.962 others(39): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 7/14 | chr13 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150672264 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02572.hp2 HG02630.hp2 others(1): Show |
a0003a0004 | a0003c0004a0004c0012a0004c0013 | a0003c0004t0001a0004c0012t0001a0004c0013t0001 | a0003c0004t0001g0178 a0004c0012t0001g0321 a0004c0013t0001g0313 others(1): Show |
4 | 348 | 0.0115 | 22 | c.134 others(41): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
ERMN_chr2_157313631_157330824 | 157324093 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0043 a0002c0002t0004g0038 |
2 | 368 | 0.0054 | 22 | c.334 others(37): Show |
ERMN | ENSG00000136541.15 | transcript | ENST00000410096.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
ERN1_chr17_64034142_64135144 | 64119376 | G | GTTGTTTT others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0006 | a0006c0019 | a0006c0019t0008 | a0006c0019t0008g0154 | 1 | 234 | 0.0043 | 22 | c.54+ others(39): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100063075 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01168.hp1 HG01169.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0009a0003c0004t0001 | a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 others(8): Show |
11 | 220 | 0.0500 | 22 | c.58- others(37): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007442 | A | ACTCTCTC others(15): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 402 | 0.0025 | 22 | c.*57 others(33): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4284 | chr1 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007479 | C | CTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 402 | 0.0025 | 22 | c.*57 others(33): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4247 | chr1 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007481 | C | CTCTCTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 402 | 0.0025 | 22 | c.*57 others(33): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4245 | chr1 | TogoVar | |||||||
ERVV-2_chr19_53039740_53056680 | 53044536 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01978.hp1 HG02148.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0004c0020others(1): Show | a0001c0002t0001a0002c0003t0027a0004c0020t0001others(1): Show | a0001c0002t0001g0001 a0001c0002t0001g0008 a0002c0003t0027g0048 others(2): Show |
12 | 446 | 0.0269 | 22 | c.-80 others(31): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 203 | chr19 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21525012 | G | GTGTGTAT others(15): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 310 | 0.0032 | 22 | c.*53 others(33): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 4271 | chr18 | TogoVar |