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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHX4_chr1_92024985_92068538 | 92030457 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(1): Show |
4 | 236 | 0.0170 | 22 | c.231 others(37): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHX4_chr1_92024985_92068538 | 92030483 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG02040.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0164 a0001c0001t0001g0166 others(5): Show |
9 | 236 | 0.0381 | 22 | c.231 others(37): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHX4_chr1_92024985_92068538 | 92030485 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 236 | 0.0042 | 22 | c.231 others(37): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHX4_chr1_92024985_92068538 | 92030490 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 236 | 0.0042 | 22 | c.231 others(37): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
EPM2A_chr6_145620305_145740520 | 145683268 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 320 | 0.0031 | 22 | c.476 others(39): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
EPM2A_chr6_145620305_145740520 | 145715139 | T | TTTCTGTT others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 320 | 0.0031 | 22 | c.301 others(41): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EPN2_chr17_19232366_19341715 | 19276773 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03471.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 |
3 | 282 | 0.0106 | 22 | c.-29 others(41): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19289724 | G | GTTTTGTT others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0027 a0001c0001t0008g0062 a0001c0001t0008g0064 |
3 | 282 | 0.0106 | 22 | c.766 others(39): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19318549 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01256.hp1 HG01257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0072 others(9): Show |
12 | 282 | 0.0426 | 22 | c.114 others(41): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPOP_chr17_38666703_38679957 | 38676561 | T | TACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 351 | 0.0029 | 22 | c.-20 others(33): Show |
EPOP | ENSG00000273604.2 | transcript | ENST00000621654.2 | protein_coding | 1605 | chr17 | TogoVar | |||||||
EPOR_chr19_11372207_11389314 | 11384667 | T | TTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG03209.hp1 HG03471.hp2 |
a0001a0008 | a0001c0001a0008c0015 | a0001c0001t0001a0008c0015t0001 | a0001c0001t0001g0003 a0008c0015t0001g0071 |
3 | 404 | 0.0074 | 22 | c.-48 others(31): Show |
EPOR | ENSG00000187266.14 | transcript | ENST00000222139.11 | protein_coding | 354 | chr19 | TogoVar | |||||||
EPOR_chr19_11372207_11389314 | 11384703 | C | CTCCTTTC others(15): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | 22 | c.-49 others(31): Show |
EPOR | ENSG00000187266.14 | transcript | ENST00000222139.11 | protein_coding | 390 | chr19 | TogoVar | |||||||
EPO_chr7_100715468_100728700 | 100724793 | G | GAGTTCAT others(15): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 380 | 0.0026 | 22 | c.*16 others(33): Show |
EPO | ENSG00000130427.3 | transcript | ENST00000252723.3 | protein_coding | 1094 | chr7 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143876445 | G | GGTGGCTA others(15): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0236 | a0236c0349 | a0236c0349t0005 | a0236c0349t0005g0045 | 1 | 424 | 0.0024 | 22 | c.-46 others(39): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
EPS15L1_chr19_16350247_16476970 | 16369676 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 276 | 0.0036 | 22 | c.238 others(41): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | TogoVar | |||||||
EPS15L1_chr19_16350247_16476970 | 16394354 | T | TAAGAGGA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00735.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(17): Show |
20 | 276 | 0.0725 | 22 | c.191 others(39): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 17/23 | chr19 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51381109 | T | TTCAATGT others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show |
a0002a0004a0008others(1): Show | a0002c0001a0004c0010a0008c0012others(1): Show | a0002c0001t0007a0002c0001t0011a0004c0010t0026others(2): Show | a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show |
9 | 152 | 0.0592 | 22 | c.211 others(43): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 21/24 | chr1 | TogoVar | |||||||
EPS8L2_chr11_701231_732727 | 720978 | G | GCCCGGCA others(15): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02155.hp2 NA18950.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0227 a0001c0001t0003g0069 a0001c0003t0001g0157 others(1): Show |
4 | 406 | 0.0099 | 22 | c.557 others(35): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EQTN_chr9_27279654_27302150 | 27298537 | T | TTAGGCCC others(15): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 446 | 0.0022 | 22 | c.-14 others(33): Show |
EQTN | ENSG00000120160.11 | transcript | ENST00000380032.8 | protein_coding | 1388 | chr9 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96808187 | C | CGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 HG02074.hp2 NA19075.hp1 |
a0001a0007a0011 | a0001c0001a0007c0007a0011c0011 | a0001c0001t0002a0007c0007t0007a0011c0011t0001 | a0001c0001t0002g0030 a0007c0007t0007g0115 a0011c0011t0001g0333 |
3 | 416 | 0.0072 | 22 | c.-34 others(31): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar | |||||||
ERAP2_chr5_96871500_96924703 | 96874180 | A | AAGAAAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0135 | 1 | 398 | 0.0025 | 22 | c.-24 others(33): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 2319 | chr5 | TogoVar | |||||||
ERAP2_chr5_96871500_96924703 | 96914148 | T | TCTCACAC others(15): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG03688.hp2 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0009a0003c0003t0018 | a0003c0003t0004g0250 a0003c0003t0004g0276 a0003c0003t0004g0278 others(13): Show |
16 | 398 | 0.0402 | 22 | c.265 others(39): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96914148 | T | TCTCTCAC others(15): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0117 | 1 | 398 | 0.0025 | 22 | c.265 others(39): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBB2_chr17_39695064_39733658 | 39695704 | T | TACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02056.hp1 NA18980.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0071 others(1): Show |
4 | 318 | 0.0126 | 22 | c.-45 others(33): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 4359 | chr17 | TogoVar | |||||||
ERBB2_chr17_39695064_39733658 | 39695704 | T | TGCATACA others(15): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0024 | a0001c0024t0004 | a0001c0024t0004g0048 | 1 | 318 | 0.0031 | 22 | c.-45 others(33): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 4359 | chr17 | TogoVar | |||||||
ERBB2_chr17_39695064_39733658 | 39724272 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00738.hp2 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0041 a0001c0004t0001g0029 a0001c0004t0001g0101 others(25): Show |
60 | 318 | 0.1887 | 22 | c.230 others(39): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ERBB3_chr12_56075165_56108505 | 56091266 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02572.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0015t0003 | a0001c0001t0002g0318 a0001c0015t0003g0322 |
2 | 392 | 0.0051 | 22 | c.111 others(41): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211513357 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0007 | 1 | 56 | 0.0179 | 22 | c.248 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211515912 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02922.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0045 a0001c0001t0004g0033 a0001c0001t0008g0013 |
3 | 56 | 0.0536 | 22 | c.248 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211515912 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02895.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019a0001c0001t0030 | a0001c0001t0002g0016 a0001c0001t0019g0002 a0001c0001t0030g0056 |
3 | 56 | 0.0536 | 22 | c.248 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211550574 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0025 a0001c0001t0004g0011 |
2 | 56 | 0.0357 | 22 | c.248 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211599513 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02809.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0003g0049 others(5): Show |
8 | 56 | 0.1429 | 22 | c.230 others(43): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211673517 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009 | a0001c0001t0002g0025 a0001c0001t0003g0050 a0001c0001t0009g0023 |
3 | 56 | 0.0536 | 22 | c.162 others(39): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211709272 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 56 | 0.0179 | 22 | c.112 others(41): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 9/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211721620 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 56 | 0.0179 | 22 | c.883 others(37): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 7/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211772924 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023 | a0001c0001t0003g0017 a0001c0001t0023g0012 |
2 | 56 | 0.0357 | 22 | c.556 others(41): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211934926 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0025 | a0001c0001t0001g0045 a0001c0001t0019g0002 a0001c0001t0025g0051 |
3 | 56 | 0.0536 | 22 | c.421 others(41): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212102088 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0056 | 1 | 56 | 0.0179 | 22 | c.234 others(41): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212102090 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 56 | 0.0179 | 22 | c.234 others(41): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212188184 | G | GTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0006 | 1 | 56 | 0.0179 | 22 | c.83- others(39): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212345265 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0024 | a0001c0001t0014g0007 a0001c0001t0024g0038 |
2 | 56 | 0.0357 | 22 | c.82+ others(41): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212540894 | T | TAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02922.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0045 a0001c0001t0004g0003 a0001c0001t0004g0008 others(3): Show |
6 | 56 | 0.1071 | 22 | c.-23 others(33): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2093 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65987367 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02055.hp2 HG02273.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0004 | a0001c0001t0001a0001c0007t0010a0003c0004t0001others(1): Show | a0001c0001t0001g0090 a0001c0007t0010g0275 a0003c0004t0001g0114 others(2): Show |
5 | 306 | 0.0163 | 22 | c.-57 others(39): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66018480 | T | TTATATAA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 306 | 0.0033 | 22 | c.534 others(39): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1007540 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0007 | a0002c0007t0059 | a0002c0007t0059g0071 | 1 | 162 | 0.0062 | 22 | c.-15 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1093957 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01192.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0071a0001c0001t0091a0001c0001t0095others(3): Show | a0001c0001t0071g0074 a0001c0001t0091g0028 a0001c0001t0095g0019 others(3): Show |
6 | 162 | 0.0370 | 22 | c.108 others(43): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122127 | G | GTCTCTAT others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02280.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0109a0001c0001t0110a0001c0001t0111 | a0001c0001t0109g0014 a0001c0001t0110g0013 a0001c0001t0111g0017 |
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 | 1122205 | G | GTCTCTAT others(15): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0114 | a0001c0001t0011g0034 a0001c0001t0114g0051 |
2 | 162 | 0.0124 | 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 | 1122307 | G | GTCTCTAT others(15): Show |
intron_variant | MODIFIER | HG02922.hp2 HG06807.hp1 |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0036a0008c0011t0044 | a0002c0002t0036g0158 a0008c0011t0044g0068 |
2 | 162 | 0.0124 | 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 | 1122307 | G | GTCTCTAT others(15): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0019 | 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 |