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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML2_chr19_45604400_45644397 | 45615519 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(65): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0007a0003c0003others(2): Show | a0001c0001t0001a0001c0007t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(55): Show | 68 | 382 | 0.1780 | 9 | c.159 others(26): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 16/18 | chr19 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0002g0122a0001c0001t0002g0187a0001c0001t0002g0332others(56): Show | 59 | 358 | 0.1648 | 9 | c.26- others(22): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88664296 | G | GAAAAAGG others(2): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18962.hp2 NA19054.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0232a0002c0002t0001g0233a0002c0002t0001g0261 | 3 | 332 | 0.0090 | 9 | c.340 others(26): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 23/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796191 | G | GTTATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02818.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0002c0002t0003others(1): Show | a0001c0001t0001g0211a0001c0001t0011g0213a0002c0002t0003g0092others(1): Show | 4 | 332 | 0.0121 | 9 | c.-36 others(20): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3239 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54778891 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01361.hp2 HG02132.hp2 others(21): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0003g0105a0001c0001t0003g0143a0001c0001t0007g0026others(21): Show | 24 | 264 | 0.0909 | 9 | c.198 others(28): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54778902 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG02055.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0006others(6): Show | a0001c0001t0005g0012a0001c0002t0001g0019a0001c0002t0001g0021others(12): Show | 15 | 264 | 0.0568 | 9 | c.198 others(28): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54802618 | A | ATACTACT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG01257.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0190a0001c0001t0001g0244a0001c0001t0001g0246others(28): Show | 31 | 264 | 0.1174 | 9 | c.198 others(28): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10575237 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03017.hp1 HG03209.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0096others(3): Show | a0001c0001t0001g0030a0001c0001t0001g0131a0001c0001t0006g0044others(5): Show | 8 | 402 | 0.0199 | 9 | c.-61 others(26): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMP3_chr19_48320552_48335553 | 48331198 | C | CTCTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01952.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0002g0010others(2): Show | 21 | 376 | 0.0559 | 9 | c.*72 others(18): Show |
EMP3 | ENSG00000142227.11 | transcript | ENST00000270221.11 | protein_coding | 646 | chr19 | TogoVar | ||||||
EN1_chr2_118837171_118852648 | 118847726 | G | GGTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0027 | 4 | 442 | 0.0091 | 9 | c.-56 others(18): Show |
EN1 | ENSG00000163064.7 | transcript | ENST00000295206.7 | protein_coding | 79 | chr2 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225505629 | T | TTAAAGCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(88): Show | a0001c0001t0001g0018a0001c0001t0001g0065a0001c0001t0001g0082others(227): Show | 230 | 308 | 0.7468 | 9 | c.153 others(28): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 11/13 | chr1 | TogoVar | ||||||
ENG_chr9_127810016_127859658 | 127843756 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG01517.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0001a0001c0002t0001a0004c0009t0005 | a0001c0001t0001g0046a0001c0001t0001g0065a0001c0001t0001g0095others(6): Show | 9 | 344 | 0.0262 | 9 | c.68- others(22): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | ||||||
ENO3_chr17_4946119_4962129 | 4949611 | A | AGGGCGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG02683.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0002c0002t0001g0003 | 4 | 440 | 0.0091 | 9 | c.-15 others(20): Show |
ENO3 | ENSG00000108515.18 | transcript | ENST00000519602.6 | protein_coding | 1507 | chr17 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 706815 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02300.hp2 HG03098.hp1 others(4): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0004t0003others(2): Show | a0001c0001t0001g0053a0001c0001t0002g0052a0001c0001t0002g0054others(4): Show | 7 | 418 | 0.0168 | 9 | c.85- others(22): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 706816 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02717.hp1 HG02818.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0034a0002c0002t0024a0003c0004t0003 | a0001c0001t0034g0105a0002c0002t0024g0061a0003c0004t0003g0374 | 3 | 418 | 0.0072 | 9 | c.85- others(22): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 713470 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0012a0001c0001t0034a0002c0002t0005others(2): Show | a0001c0001t0012g0040a0001c0001t0012g0041a0001c0001t0012g0192others(9): Show | 12 | 418 | 0.0287 | 9 | c.-88 others(18): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 841 | chr18 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43349544 | T | TACTCAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00738.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0036a0001c0001t0002g0050a0001c0001t0002g0058others(27): Show | 30 | 188 | 0.1596 | 9 | c.824 others(26): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 8/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43616204 | A | ATATATTT others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01496.hp1 HG01515.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0082a0001c0001t0003g0065a0001c0001t0004g0088others(5): Show | 8 | 188 | 0.0426 | 9 | c.-21 others(30): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43670851 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG03041.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0003 | a0001c0001t0005g0170a0001c0001t0005g0172a0001c0005t0003g0052 | 3 | 188 | 0.0160 | 9 | c.-28 others(28): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43786822 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(19): Show | a0001c0001t0005g0135a0001c0001t0005g0140a0001c0001t0005g0145others(52): Show | 55 | 188 | 0.2926 | 9 | c.-46 others(18): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/17 | 373909 | chr13 | TogoVar | |||||
ENOX2_chrX_130617325_130908209 | 130617582 | C | CTTTCTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 154 | 0.0065 | 9 | c.*77 others(20): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 4742 | chrX | TogoVar | ||||||
ENOX2_chrX_130617325_130908209 | 130632364 | C | CGGGGGGG others(2): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0038 | 1 | 154 | 0.0065 | 9 | c.142 others(26): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 12/14 | chrX | TogoVar | ||||||
ENPEP_chr4_110471155_110570285 | 110558032 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(186): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(27): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0012others(169): Show | 189 | 312 | 0.6058 | 9 | c.264 others(28): Show |
ENPEP | ENSG00000138792.10 | transcript | ENST00000265162.10 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ENPP2_chr8_119552086_119643839 | 119573408 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01981.hp1 others(9): Show |
a0001a0010a0011 | a0001c0002a0001c0005a0010c0019others(1): Show | a0001c0002t0001a0001c0005t0001a0010c0019t0001others(1): Show | a0001c0002t0001g0177a0001c0002t0001g0214a0001c0002t0001g0321others(9): Show | 12 | 340 | 0.0353 | 9 | c.178 others(28): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 19/24 | chr8 | TogoVar | ||||||
ENPP2_chr8_119552086_119643839 | 119605465 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02155.hp2 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0092others(2): Show | 6 | 340 | 0.0177 | 9 | c.833 others(26): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 9/24 | chr8 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131699235 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01106.hp1 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0019a0002c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0019t0001others(3): Show | a0001c0002t0001g0015a0001c0002t0001g0016a0001c0002t0001g0020others(8): Show | 11 | 278 | 0.0396 | 9 | c.141 others(28): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP6_chr4_184083706_184222873 | 184093640 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp1 others(36): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(8): Show | a0001c0002t0001g0062a0001c0002t0001g0137a0001c0002t0002g0047others(36): Show | 39 | 320 | 0.1219 | 9 | c.111 others(28): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 7/7 | chr4 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184122404 | A | ACACCACC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(13): Show | a0001c0002t0001g0137a0001c0002t0001g0138a0001c0002t0001g0184others(83): Show | 89 | 320 | 0.2781 | 9 | c.533 others(26): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 3/7 | chr4 | TogoVar | ||||||
ENTPD3_chr3_40382184_40433744 | 40397119 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG01891.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0084a0001c0001t0002g0011a0001c0001t0002g0037others(23): Show | 29 | 374 | 0.0775 | 9 | c.169 others(26): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ENTPD4_chr8_23424162_23462647 | 23427124 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG02630.hp1 HG02886.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0001a0001c0003t0050 | a0001c0001t0011g0034a0001c0001t0011g0120a0001c0001t0011g0157others(2): Show | 10 | 412 | 0.0243 | 9 | c.*57 others(20): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 2037 | chr8 | TogoVar | ||||||
ENTPD5_chr14_73958230_74024288 | 73995585 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01168.hp1 HG01346.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0007a0001c0002t0002others(4): Show | a0001c0001t0004g0213a0001c0001t0004g0214a0001c0001t0004g0233others(15): Show | 19 | 380 | 0.0500 | 9 | c.-70 others(26): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | ||||||
ENTPD7_chr10_99654509_99716241 | 99687259 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0091a0001c0001t0001g0186a0001c0001t0002g0013others(26): Show | 32 | 408 | 0.0784 | 9 | c.652 others(26): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ENTREP2_chr15_29115252_29575979 | 29377823 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02145.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0008a0001c0010a0001c0019others(10): Show | a0001c0008t0007a0001c0010t0001a0001c0019t0001others(10): Show | a0001c0008t0007g0064a0001c0008t0007g0115a0001c0010t0001g0088others(13): Show | 16 | 125 | 0.1280 | 9 | c.276 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29462615 | C | CTAATAAT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02809.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0008a0001c0011others(6): Show | a0001c0002t0001a0001c0008t0007a0001c0011t0010others(6): Show | a0001c0002t0001g0082a0001c0008t0007g0039a0001c0008t0007g0115others(9): Show | 12 | 125 | 0.0960 | 9 | c.220 others(28): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29561693 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18906.hp2 |
a0002a0005 | a0002c0003a0005c0016 | a0002c0003t0034a0005c0016t0006 | a0002c0003t0034g0059a0005c0016t0006g0079 | 2 | 125 | 0.0160 | 9 | c.219 others(26): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
EOGT_chr3_68970225_69018684 | 69007507 | C | CGGGGGGG others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0390a0001c0001t0002g0018a0001c0001t0002g0198others(20): Show | 24 | 444 | 0.0541 | 9 | c.420 others(24): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
EOGT_chr3_68970225_69018684 | 69007511 | G | GGGGGGGG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(96): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0042a0001c0002t0001a0001c0002t0002others(28): Show | a0001c0001t0042g0050a0001c0002t0001g0001a0001c0002t0001g0026others(78): Show | 99 | 444 | 0.2230 | 9 | c.420 others(24): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
EOGT_chr3_68970225_69018684 | 69011193 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01169.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0249a0001c0001t0003g0098a0001c0001t0003g0391others(10): Show | 13 | 444 | 0.0293 | 9 | c.-15 others(24): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41088007 | A | AAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01934.hp2 others(34): Show |
a0001a0007 | a0001c0002a0001c0004a0001c0013others(1): Show | a0001c0002t0005a0001c0004t0002a0001c0004t0003others(15): Show | a0001c0002t0005g0020a0001c0004t0002g0033a0001c0004t0003g0003others(34): Show | 37 | 300 | 0.1233 | 9 | c.-49 others(20): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 4584 | chr22 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 132062548 | A | ACAGCAGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02647.hp2 HG03098.hp1 HG03225.hp1 others(1): Show |
a0011a0012 | a0011c0020a0012c0037a0012c0054 | a0011c0020t0002a0012c0037t0001a0012c0054t0001 | a0011c0020t0002g0027a0011c0020t0002g0028a0012c0037t0001g0095others(1): Show | 4 | 208 | 0.0192 | 9 | c.821 others(18): Show |
p.Gln others(15): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 47/53 | 8356/12289 | 8226/9372 | 2742/3123 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
EPB41L2_chr6_130834347_131068245 | 130937821 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01070.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0120a0001c0001t0002g0251a0001c0001t0002g0343others(18): Show | 21 | 356 | 0.0590 | 9 | c.706 others(28): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5389994 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0212others(3): Show | 6 | 222 | 0.0270 | 9 | c.*34 others(20): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2391 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5395795 | T | TTTCACTA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01891.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0002c0003t0002others(3): Show | a0001c0001t0002g0018a0001c0001t0002g0055a0001c0001t0002g0058others(11): Show | 14 | 222 | 0.0631 | 9 | c.297 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 19/22 | chr18 | TogoVar | ||||||
EPB41L3_chr18_5387386_5548997 | 5488579 | G | GATAATAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG02818.hp1 others(7): Show |
a0001a0008a0015 | a0001c0001a0001c0002a0008c0009others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0001others(3): Show | a0001c0001t0002g0015a0001c0001t0008g0193a0001c0002t0001g0026others(7): Show | 10 | 222 | 0.0451 | 9 | c.183 others(24): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112346216 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00673.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0021others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0086a0001c0001t0001g0144a0001c0001t0002g0008others(32): Show | 35 | 228 | 0.1535 | 9 | c.100 others(28): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
EPB41L4B_chr9_109166974_109326059 | 109178902 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01081.hp1 HG01099.hp2 others(16): Show |
a0001a0003 | a0001c0004a0003c0008a0003c0011 | a0001c0004t0002a0001c0004t0011a0001c0004t0014others(7): Show | a0001c0004t0002g0129a0001c0004t0002g0184a0001c0004t0011g0051others(16): Show | 19 | 318 | 0.0598 | 9 | c.248 others(28): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 24/25 | chr9 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28934666 | T | TTTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(47): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(47): Show | 50 | 312 | 0.1603 | 9 | c.-8+ others(26): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPB41_chr1_28909569_29125041 | 28972665 | T | TGATGATT others(2): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18950.hp1 NA19005.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0216a0001c0003t0002g0217a0001c0003t0002g0218others(2): Show | 5 | 312 | 0.0160 | 9 | c.-7- others(26): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
EPC1_chr10_32262751_32352158 | 32290505 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0002a0005 | a0001c0001a0001c0012a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(151): Show | 160 | 318 | 0.5031 | 9 | c.975 others(24): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 6/13 | chr10 | TogoVar | ||||||
EPC1_chr10_32262751_32352158 | 32299540 | C | CCATCATC others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG02055.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0005t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0044others(19): Show | 25 | 318 | 0.0786 | 9 | c.314 others(26): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 2/13 | chr10 | TogoVar |