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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHA6_chr3_96809594_97766532 | 97187674 | AGAGAAAG others(7): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0010 | 1 | 82 | 0.0122 | -14 | c.111 others(35): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97272297 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0051a0001c0001t0001g0057others(27): Show | 30 | 82 | 0.3659 | -14 | c.160 others(35): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97288058 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01257.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0006a0001c0002t0026a0001c0003t0002others(8): Show | a0001c0002t0006g0053a0001c0002t0026g0032a0001c0003t0002g0036others(11): Show | 14 | 82 | 0.1707 | -14 | c.160 others(35): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97311442 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp1 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0011a0001c0003t0018 | a0001c0003t0004g0010a0001c0003t0011g0011a0001c0003t0018g0020 | 3 | 82 | 0.0366 | -14 | c.160 others(35): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97363171 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0010 | a0001c0001t0001a0001c0001t0008a0001c0001t0029others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0062a0001c0001t0008g0060others(4): Show | 7 | 82 | 0.0854 | -14 | c.160 others(35): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97508984 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0003 | a0001c0002t0001g0009a0001c0003t0003g0012 | 2 | 82 | 0.0244 | -14 | c.220 others(35): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97612342 | TTTCTTTT others(7): Show |
T | intron_variant | MODIFIER | NA18906.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0013 | a0001c0001t0002g0054a0001c0003t0013g0001 | 2 | 82 | 0.0244 | -14 | c.257 others(33): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97753130 | TGTTCCAC others(7): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0082 | 1 | 82 | 0.0122 | -14 | c.*44 others(25): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 18/18 | 4432 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
EPHA7_chr6_93235020_93424559 | 93244595 | TGGAGCCA others(7): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0272 | 1 | 280 | 0.0036 | -14 | c.288 others(31): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 16/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93332512 | TTTATAGG others(7): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG03834.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0200a0001c0003t0001g0201 | 2 | 280 | 0.0071 | -14 | c.132 others(35): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 5/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93359854 | TAGAGAGA others(7): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01256.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0102others(9): Show | 12 | 280 | 0.0429 | -14 | c.833 others(31): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93359864 | GAGAGAGA others(7): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG03471.hp2 NA19010.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0144a0001c0001t0001g0154a0001c0002t0002g0131 | 3 | 280 | 0.0107 | -14 | c.833 others(31): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93388052 | CATAGAGT others(7): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0165 | 1 | 280 | 0.0036 | -14 | c.832 others(33): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405801 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0055 | 1 | 280 | 0.0036 | -14 | c.832 others(31): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405807 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0002a0001c0002t0002a0001c0012t0014 | a0001c0001t0002g0169a0001c0002t0002g0170a0001c0002t0002g0171others(4): Show | 7 | 280 | 0.0250 | -14 | c.832 others(31): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405811 | GTGTATAT others(7): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 280 | 0.0036 | -14 | c.832 others(31): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA7_chr6_93235020_93424559 | 93405813 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 280 | 0.0036 | -14 | c.832 others(31): Show |
EPHA7 | ENSG00000135333.15 | transcript | ENST00000369303.9 | protein_coding | 3/16 | chr6 | TogoVar | ||||||
EPHA8_chr1_22558489_22608595 | 22578191 | TGTGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG02071.hp2 others(7): Show |
a0000a0001 | a0000c0007a0001c0001 | a0000c0007t0001a0001c0001t0001 | a0000c0007t0001g0269a0001c0001t0001g0015a0001c0001t0001g0198others(6): Show | 10 | 342 | 0.0292 | -14 | c.823 others(31): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHA8_chr1_22558489_22608595 | 22580127 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 342 | 0.0029 | -14 | c.823 others(31): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 134959966 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0128 | 1 | 134 | 0.0075 | -14 | c.805 others(31): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135050912 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 134 | 0.0075 | -14 | c.806 others(33): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135183016 | TTTTCTTT others(7): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0002 | a0001c0001t0017g0059a0001c0003t0002g0092 | 2 | 134 | 0.0149 | -14 | c.188 others(33): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB1_chr3_134790260_135265467 | 135217454 | ACACACAC others(7): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02895.hp1 HG03209.hp2 |
a0001 | a0001c0003a0001c0008a0001c0015 | a0001c0003t0002a0001c0008t0008a0001c0015t0008 | a0001c0003t0002g0088a0001c0008t0008g0024a0001c0015t0008g0013 | 3 | 134 | 0.0224 | -14 | c.234 others(35): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHB2_chr1_22705839_22926500 | 22819205 | GTCTCTCT others(7): Show |
G | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 248 | 0.0040 | -14 | c.811 others(33): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHB4_chr7_100797565_100832523 | 100801788 | AAAAAAAA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01257.hp2 HG01496.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0001 | a0001c0001t0001g0034a0001c0001t0002g0003a0001c0001t0002g0020others(3): Show | 7 | 364 | 0.0192 | -14 | c.*16 others(25): Show |
EPHB4 | ENSG00000196411.10 | transcript | ENST00000358173.8 | protein_coding | 776 | chr7 | TogoVar | ||||||
EPHX1_chr1_225805124_225850563 | 225806417 | TACACACA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 NA20752.hp2 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0002a0003c0005t0001 | a0002c0002t0002g0269a0003c0005t0001g0254a0003c0005t0001g0255 | 3 | 422 | 0.0071 | -14 | c.-37 others(25): Show |
EPHX1 | ENSG00000143819.13 | transcript | ENST00000272167.10 | protein_coding | 3706 | chr1 | TogoVar | ||||||
EPHX1_chr1_225805124_225850563 | 225839366 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0398 | 1 | 422 | 0.0024 | -14 | c.722 others(27): Show |
EPHX1 | ENSG00000143819.13 | transcript | ENST00000272167.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHX2_chr8_27486143_27550564 | 27490699 | GACACACA others(7): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03516.hp2 NA19075.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0003 | a0001c0002t0002g0278a0002c0003t0003g0220a0002c0003t0003g0221 | 3 | 374 | 0.0080 | -14 | c.-50 others(23): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 443 | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27490741 | CACACACA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02976.hp2 others(7): Show |
a0001a0008 | a0001c0004a0008c0019a0008c0034 | a0001c0004t0003a0008c0019t0001a0008c0034t0003 | a0001c0004t0003g0011a0001c0004t0003g0322a0001c0004t0003g0331others(6): Show | 10 | 374 | 0.0267 | -14 | c.-46 others(23): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 401 | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27525095 | TGTGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02647.hp1 others(7): Show |
a0001a0008 | a0001c0002a0001c0004a0001c0032others(2): Show | a0001c0002t0002a0001c0004t0003a0001c0032t0003others(2): Show | a0001c0002t0002g0257a0001c0004t0003g0331a0001c0004t0003g0333others(7): Show | 10 | 374 | 0.0267 | -14 | c.105 others(31): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EPHX4_chr1_92024985_92068538 | 92064727 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0102a0001c0001t0001g0132others(3): Show | 7 | 236 | 0.0297 | -14 | c.*14 others(25): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1190 | chr1 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145678650 | TGTTCATC others(7): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 2 | 320 | 0.0063 | -14 | c.476 others(31): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145696772 | GGTATGTG others(7): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG03195.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0001g0166 | 3 | 320 | 0.0094 | -14 | c.302 others(33): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145696775 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG02109.hp2 HG02723.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0021others(4): Show | 9 | 320 | 0.0281 | -14 | c.302 others(33): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143855406 | GTATATCT others(7): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00621.hp1 others(31): Show |
a0003a0010a0023others(22): Show | a0003c0008a0003c0030a0003c0031others(25): Show | a0003c0008t0003a0003c0030t0003a0003c0031t0003others(27): Show | a0003c0008t0003g0027a0003c0008t0003g0360a0003c0030t0003g0010others(29): Show | 34 | 424 | 0.0802 | -14 | c.*25 others(25): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1917 | chr8 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143883273 | AAGGGGCC others(7): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01884.hp1 others(38): Show |
a0010a0015a0023others(34): Show | a0010c0015a0010c0050a0015c0316others(36): Show | a0010c0015t0001a0010c0050t0001a0015c0316t0003others(37): Show | a0010c0015t0001g0202a0010c0015t0001g0203a0010c0050t0001g0204others(38): Show | 41 | 424 | 0.0967 | -14 | c.-48 others(25): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 4807 | chr8 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 219978501 | CAAATTGC others(7): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02280.hp1 others(5): Show |
a0003a0008 | a0003c0007a0003c0008a0008c0011 | a0003c0007t0001a0003c0008t0001a0008c0011t0001 | a0003c0007t0001g0087a0003c0007t0001g0141a0003c0008t0001g0005others(3): Show | 8 | 358 | 0.0224 | -14 | c.408 others(29): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 28/31 | chr1 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220008107 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(293): Show |
a0001a0003a0006others(13): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0026others(287): Show | 296 | 358 | 0.8268 | -14 | c.160 others(31): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 13/31 | chr1 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220020824 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG00738.hp2 others(15): Show |
a0001a0003a0016 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0312a0001c0001t0002g0092a0001c0001t0002g0313others(15): Show | 18 | 358 | 0.0503 | -14 | c.111 others(31): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 9/31 | chr1 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220027663 | GGCTATTC others(7): Show |
G | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 358 | 0.0028 | -14 | c.624 others(31): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 6/31 | chr1 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16350581 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02300.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0162 | 2 | 276 | 0.0073 | -14 | c.*51 others(25): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 4665 | chr19 | TogoVar | ||||||
EPS15L1_chr19_16350247_16476970 | 16437686 | TACATGCA others(7): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0071others(1): Show | 4 | 276 | 0.0145 | -14 | c.309 others(27): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 5/23 | chr19 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51374996 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG03195.hp1 others(2): Show |
a0002a0004a0006 | a0002c0001a0004c0015a0006c0010 | a0002c0001t0011a0004c0015t0011a0006c0010t0026 | a0002c0001t0011g0130a0002c0001t0011g0131a0002c0001t0011g0132others(2): Show | 5 | 152 | 0.0329 | -14 | c.212 others(33): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51431015 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0009 | a0009c0012 | a0009c0012t0007 | a0009c0012t0007g0136 | 1 | 152 | 0.0066 | -14 | c.104 others(33): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
EPS15_chr1_51349263_51524266 | 51500984 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
a0002a0004a0006others(1): Show | a0002c0001a0004c0015a0006c0010others(1): Show | a0002c0001t0007a0002c0001t0011a0004c0015t0011others(2): Show | a0002c0001t0007g0133a0002c0001t0007g0134a0002c0001t0007g0135others(6): Show | 9 | 152 | 0.0592 | -14 | c.33+ others(31): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55084678 | GGGTCAGA others(7): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 340 | 0.0029 | -14 | c.138 others(33): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 14/19 | chr19 | TogoVar | ||||||
EPS8L2_chr11_701231_732727 | 711261 | CGTGCGTG others(7): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG02148.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0164a0001c0005t0001g0165 | 2 | 406 | 0.0049 | -14 | c.165 others(29): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EPS8_chr12_15615134_15794388 | 15780481 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 102 | 0.0098 | -14 | c.-22 others(31): Show |
EPS8 | ENSG00000151491.14 | transcript | ENST00000281172.10 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42885188 | GACCAACA others(7): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 352 | 0.0028 | -14 | c.*32 others(25): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 1199 | chr13 | TogoVar | ||||||
EPSTI1_chr13_42881388_42997241 | 42942658 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02572.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0012a0001c0001t0057others(2): Show | a0001c0001t0002g0237a0001c0001t0012g0220a0001c0001t0012g0337others(3): Show | 6 | 352 | 0.0171 | -14 | c.563 others(33): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 6/10 | chr13 | TogoVar |