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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERBB4_chr2_211370717_212543802 | 212267599 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(7): Show | a0001c0001t0002g0025a0001c0001t0002g0047a0001c0001t0007g0018others(9): Show | 12 | 56 | 0.2143 | 9 | c.83- others(28): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212286767 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02809.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0003g0040a0001c0001t0007g0043a0001c0001t0008g0013others(2): Show | 5 | 56 | 0.0893 | 9 | c.83- others(28): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212421300 | T | TTAGCCAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG03225.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0017others(3): Show | a0001c0001t0003g0049a0001c0001t0012g0001a0001c0001t0017g0029others(3): Show | 6 | 56 | 0.1071 | 9 | c.82+ others(28): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66018527 | T | TTATATAA others(2): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 HG03486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013 | a0001c0001t0001g0042a0001c0001t0006g0147a0001c0001t0006g0148others(4): Show | 7 | 306 | 0.0229 | 9 | c.534 others(26): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66018532 | T | TATTATAT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02145.hp2 HG03540.hp1 |
a0001a0013 | a0001c0001a0013c0018 | a0001c0001t0001a0001c0001t0006a0013c0018t0001 | a0001c0001t0001g0133a0001c0001t0006g0156a0013c0018t0001g0049 | 3 | 306 | 0.0098 | 9 | c.534 others(26): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1225449 | T | TAAAACAC others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG01884.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0138a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0138g0095a0002c0002t0001g0149a0002c0002t0001g0152others(19): Show | 22 | 162 | 0.1358 | 9 | c.235 others(30): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1255621 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01109.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0021a0001c0001t0024a0001c0001t0056others(3): Show | a0001c0001t0021g0116a0001c0001t0024g0112a0001c0001t0056g0085others(3): Show | 6 | 162 | 0.0370 | 9 | c.248 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1341069 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0003g0035a0001c0001t0008g0010a0001c0001t0010g0009others(2): Show | 5 | 162 | 0.0309 | 9 | c.278 others(30): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1356212 | A | AGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01517.hp1 HG02572.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0008a0001c0001t0130a0001c0013t0063others(12): Show | a0001c0001t0008g0086a0001c0001t0130g0102a0001c0013t0063g0077others(13): Show | 16 | 162 | 0.0988 | 9 | c.278 others(30): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1386651 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG01175.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0008a0001c0001t0095a0001c0001t0107others(2): Show | a0001c0001t0008g0010a0001c0001t0095g0019a0001c0001t0107g0006others(2): Show | 5 | 162 | 0.0309 | 9 | c.292 others(30): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1485199 | T | TTATCTTT others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03139.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0016a0002c0002t0134 | a0002c0002t0016g0098a0002c0002t0016g0101a0002c0002t0134g0105 | 3 | 162 | 0.0185 | 9 | c.321 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1493548 | A | ATATATAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0024a0001c0001t0068 | a0001c0001t0008g0010a0001c0001t0008g0086a0001c0001t0024g0112others(1): Show | 4 | 162 | 0.0247 | 9 | c.*33 others(20): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3319 | chr12 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55676441 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01934.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0015others(7): Show | 10 | 74 | 0.1351 | 9 | c.*39 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55729837 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0059a0001c0001t0001g0061others(6): Show | 9 | 74 | 0.1216 | 9 | c.271 others(28): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55879099 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01346.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0035a0001c0001t0001g0052others(14): Show | 17 | 74 | 0.2297 | 9 | c.256 others(28): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56282678 | G | GTGCTGCT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02965.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0003a0001c0002t0001g0014a0001c0002t0001g0017others(3): Show | 6 | 74 | 0.0811 | 9 | c.107 others(30): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56449050 | G | GGGCAACA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0004t0001 | a0001c0001t0002g0029a0001c0001t0002g0037a0001c0001t0006g0026others(2): Show | 5 | 74 | 0.0676 | 9 | c.-14 others(30): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 1/17 | chr3 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45409892 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG02258.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0004a0001c0001t0016a0001c0001t0035others(2): Show | a0001c0001t0004g0054a0001c0001t0004g0057a0001c0001t0004g0059others(7): Show | 11 | 420 | 0.0262 | 9 | c.844 others(24): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
ERCC4_chr16_13915154_13957348 | 13937086 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0004others(1): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0010others(6): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0015others(37): Show | 87 | 340 | 0.2559 | 9 | c.181 others(26): Show |
ERCC4 | ENSG00000175595.16 | transcript | ENST00000311895.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ERCC8_chr5_60861454_60950070 | 60909243 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01361.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0042 | a0001c0001t0004g0006a0001c0001t0004g0244a0001c0001t0004g0273others(2): Show | 6 | 302 | 0.0199 | 9 | c.400 others(26): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 4/11 | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172829941 | C | CTTTCTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG01192.hp1 HG01884.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0105a0001c0001t0001g0140a0001c0001t0001g0203others(15): Show | 18 | 334 | 0.0539 | 9 | c.-44 others(20): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 4309 | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172909168 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02922.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0158a0001c0001t0001g0208others(3): Show | 6 | 334 | 0.0180 | 9 | c.156 others(24): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC3_chr20_35537078_35562634 | 35539368 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0048a0001c0003t0001g0223a0001c0003t0003g0222 | 4 | 364 | 0.0110 | 9 | c.-27 others(20): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 2709 | chr20 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38468982 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00738.hp1 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0184a0001c0001t0001g0189a0001c0001t0001g0190others(10): Show | 13 | 360 | 0.0361 | 9 | c.19- others(26): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
ERH_chr14_69375128_69403299 | 69379980 | T | TTCACATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(209): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(125): Show | 212 | 398 | 0.5327 | 9 | c.*55 others(18): Show |
ERH | ENSG00000100632.11 | transcript | ENST00000557016.6 | protein_coding | 147 | chr14 | TogoVar | ||||||
ERH_chr14_69375128_69403299 | 69387695 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0012others(46): Show | 77 | 398 | 0.1935 | 9 | c.92- others(22): Show |
ERH | ENSG00000100632.11 | transcript | ENST00000557016.6 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44239782 | A | AAGAGGAG others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0131a0001c0001t0001g0152a0001c0001t0001g0155others(1): Show | 4 | 340 | 0.0118 | 9 | c.931 others(26): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 663515 | C | CACAGGCG others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(273): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0003a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(262): Show | 276 | 378 | 0.7302 | 9 | c.*10 others(20): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 684 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 685952 | C | CTGGCCAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0079a0001c0001t0001g0156others(22): Show | 26 | 378 | 0.0688 | 9 | c.304 others(26): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH2_chr2_170765378_170803977 | 170791527 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0001a0008a0009others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0017others(66): Show | 146 | 390 | 0.3744 | 9 | c.105 others(28): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ERICH6_chr3_150654885_150708920 | 150658031 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01346.hp1 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0002c0001others(7): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(7): Show | a0001c0002t0001g0208a0001c0002t0001g0226a0001c0002t0001g0262others(26): Show | 30 | 348 | 0.0862 | 9 | c.*18 others(20): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1853 | chr3 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150703735 | A | ACCTCCTC others(2): Show |
conservative_inframe_insertion | MODERATE | HG01192.hp2 HG02145.hp2 HG02258.hp2 others(13): Show |
a0009a0010a0011others(1): Show | a0009c0012a0010c0011a0011c0013others(1): Show | a0009c0012t0001a0010c0011t0001a0010c0011t0002others(3): Show | a0009c0012t0001g0315a0009c0012t0001g0319a0009c0012t0001g0320others(13): Show | 16 | 348 | 0.0460 | 9 | c.155 others(16): Show |
p.Glu others(11): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 185/2021 | 163/1992 | 55/663 | chr3 | TogoVar | ||
ERMP1_chr9_5779572_5838117 | 5833080 | C | CCGCCGCC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01928.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0040a0001c0002t0013g0275 | 3 | 378 | 0.0079 | 9 | c.-62 others(16): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 1/15 | 54 | chr9 | TogoVar | |||||
ERN2_chr16_23685310_23718222 | 23697176 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18942.hp1 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0139 | 4 | 412 | 0.0097 | 9 | c.152 others(28): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 13/21 | chr16 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236247926 | A | ATCACTTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(193): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0003a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(190): Show | 196 | 396 | 0.4950 | 9 | c.431 others(26): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236258149 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG01243.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0026others(10): Show | a0001c0001t0003g0285a0001c0001t0003g0295a0001c0001t0003g0296others(27): Show | 31 | 396 | 0.0783 | 9 | c.223 others(26): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236261941 | T | TCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02723.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0013a0003c0004t0029a0003c0004t0042 | a0003c0004t0013g0118a0003c0004t0013g0125a0003c0004t0013g0127others(2): Show | 6 | 396 | 0.0152 | 9 | c.222 others(26): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
ERP29_chr12_112008426_112028449 | 112021515 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01433.hp1 HG02040.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007a0001c0002t0001g0041a0001c0002t0001g0063others(1): Show | 18 | 398 | 0.0452 | 9 | c.284 others(24): Show |
ERP29 | ENSG00000089248.7 | transcript | ENST00000261735.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERP44_chr9_99974185_100104000 | 100024152 | T | TCAACAAC others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0176 | 3 | 220 | 0.0136 | 9 | c.287 others(26): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100043291 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00642.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0123a0001c0001t0001g0127others(10): Show | 13 | 220 | 0.0591 | 9 | c.286 others(26): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007497 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0003g0010a0001c0001t0003g0040others(1): Show | 8 | 402 | 0.0199 | 9 | c.*57 others(20): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4229 | chr1 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007498 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 NA18951.hp2 NA18982.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0039others(2): Show | 5 | 402 | 0.0124 | 9 | c.*57 others(20): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4228 | chr1 | TogoVar | ||||||
ERVH48-1_chr21_42911803_42930630 | 42928568 | A | AAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 NA18941.hp1 NA18945.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0002a0001c0001t0012g0087 | 10 | 420 | 0.0238 | 9 | c.-35 others(20): Show |
ERVH48-1 | ENSG00000233056.4 | transcript | ENST00000447535.2 | protein_coding | 2939 | chr21 | TogoVar | ||||||
ERVMER34-1_chr4_52737553_52756425 | 52741154 | G | GGAAAGGA others(2): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01891.hp1 NA19090.hp1 |
a0001a0002 | a0001c0001a0002c0005a0002c0006 | a0001c0001t0011a0002c0005t0002a0002c0006t0002 | a0001c0001t0011g0028a0002c0005t0002g0033a0002c0006t0002g0009 | 3 | 392 | 0.0077 | 9 | c.*26 others(20): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 1398 | chr4 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01975.hp2 HG02004.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0001a0004c0006t0001 | a0001c0001t0001g0208a0001c0001t0001g0328a0001c0001t0001g0329others(4): Show | 7 | 390 | 0.0180 | 9 | c.226 others(26): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238119435 | G | GGTGAATG others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02559.hp1 NA19043.hp1 others(1): Show |
a0015a0022a0025 | a0015c0120a0015c0131a0022c0056others(1): Show | a0015c0120t0003a0015c0131t0003a0022c0056t0001others(1): Show | a0015c0120t0003g0165a0015c0131t0003g0164a0022c0056t0001g0042others(1): Show | 4 | 408 | 0.0098 | 9 | c.987 others(26): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 152077210 | A | ACAGCTCG others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0063others(80): Show | 84 | 250 | 0.3360 | 9 | c.136 others(30): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR2_chr14_64223317_64299371 | 64224181 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01069.hp2 others(14): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0004a0001c0001t0009a0001c0001t0013others(7): Show | a0001c0001t0004g0007a0001c0001t0004g0261a0001c0001t0004g0304others(13): Show | 17 | 368 | 0.0462 | 9 | c.*89 others(20): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 4135 | chr14 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94682933 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 NA20300.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0193a0001c0001t0001g0364a0001c0003t0001g0338 | 3 | 374 | 0.0080 | 9 | c.182 others(28): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | chr8 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76460709 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(51): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0016others(51): Show | 54 | 318 | 0.1698 | 9 | c.461 others(26): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |