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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELMO2_chr20_46361050_46411615 | 46411193 | G | GCGGGTGT others(24): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0007a0001c0001t0005g0012 | 2 | 312 | 0.0064 | 31 | c.-47 others(42): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGCGGGG others(24): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 312 | 0.0032 | 31 | c.-47 others(42): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGGCGG others(24): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235a0001c0001t0004g0242 | 2 | 312 | 0.0064 | 31 | c.-47 others(42): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11016173 | C | CCCTTCCT others(24): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(243): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(16): Show | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0031others(225): Show | 246 | 380 | 0.6474 | 31 | c.4-5 others(44): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02818.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0081 | a0001c0001t0005g0162a0001c0001t0006g0016a0001c0001t0081g0068 | 3 | 338 | 0.0089 | 31 | c.90- others(48): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50472243 | T | TATGTATA others(24): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 HG02723.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0170a0001c0002t0120 | a0001c0001t0008g0001a0001c0001t0170g0046a0001c0002t0120g0031 | 3 | 352 | 0.0085 | 31 | c.-43 others(42): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4263 | chr19 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9963477 | A | AGATAGAT others(24): Show |
3_prime_UTR_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0239 | 1 | 322 | 0.0031 | 31 | c.*59 others(40): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 8/8 | 591 | chr3 | TogoVar | |||||
EMC3_chr3_9957682_9991841 | 9963477 | A | AGATAGAT others(24): Show |
3_prime_UTR_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0240 | 1 | 322 | 0.0031 | 31 | c.*59 others(40): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 8/8 | 591 | chr3 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42245090 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0237 | 1 | 358 | 0.0028 | 31 | c.26- others(44): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 358 | 0.0028 | 31 | c.26- others(44): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88796819 | T | TTATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0003t0004 | a0001c0001t0012g0324a0001c0001t0012g0325a0001c0001t0012g0326others(13): Show | 16 | 332 | 0.0482 | 31 | c.-43 others(42): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3867 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882857 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02148.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0010t0004others(1): Show | a0001c0001t0001g0182a0001c0001t0001g0203a0001c0003t0002g0192others(3): Show | 6 | 264 | 0.0227 | 31 | c.243 others(50): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54882873 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02976.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0006a0001c0005t0001a0001c0005t0006 | a0001c0002t0006g0055a0001c0005t0001g0079a0001c0005t0006g0086 | 3 | 264 | 0.0114 | 31 | c.243 others(50): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(24): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01517.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0003a0001c0002t0010a0001c0006t0025 | a0001c0001t0003g0145a0001c0002t0010g0025a0001c0006t0025g0213 | 3 | 264 | 0.0114 | 31 | c.496 others(48): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ENDOG_chr9_128813500_128827676 | 128815218 | A | ATCGAGGC others(24): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 420 | 0.0024 | 31 | c.-34 others(42): Show |
ENDOG | ENSG00000167136.7 | transcript | ENST00000372642.5 | protein_coding | 3281 | chr9 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43541173 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0018 | 1 | 188 | 0.0053 | 31 | c.-21 others(52): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131641799 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 278 | 0.0036 | 31 | c.154 others(46): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP3_chr6_131632302_131752410 | 131692861 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01516.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0221a0001c0001t0001g0228a0001c0001t0002g0217others(1): Show | 4 | 278 | 0.0144 | 31 | c.128 others(48): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENPP4_chr6_46124989_46151688 | 46142392 | A | AATATATA others(24): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 426 | 0.0024 | 31 | c.998 others(46): Show |
ENPP4 | ENSG00000001561.7 | transcript | ENST00000321037.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ENTPD4_chr8_23424162_23462647 | 23427124 | C | CAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 412 | 0.0024 | 31 | c.*58 others(42): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 2037 | chr8 | TogoVar | ||||||
ENY2_chr8_109329347_109350954 | 109349423 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 428 | 0.0023 | 31 | c.*59 others(42): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 3470 | chr8 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28921938 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 312 | 0.0032 | 31 | c.-8+ others(46): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(24): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 312 | 0.0032 | 31 | c.-8+ others(48): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(24): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 312 | 0.0032 | 31 | c.-8+ others(48): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPB41_chr1_28909569_29125041 | 28935468 | C | CACACACA others(24): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01943.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0099a0001c0001t0002g0112a0001c0001t0010g0181others(1): Show | 4 | 312 | 0.0128 | 31 | c.-8+ others(48): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
EPC2_chr2_148639751_148792569 | 148774622 | T | TTATATTA others(24): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01943.hp1 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049a0001c0001t0002g0074a0001c0001t0002g0116 | 3 | 308 | 0.0097 | 31 | c.172 others(50): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPDR1_chr7_37915640_37956936 | 37937985 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 448 | 0.0022 | 31 | c.270 others(50): Show |
EPDR1 | ENSG00000086289.13 | transcript | ENST00000199448.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EPHA3_chr3_89102621_89487134 | 89219688 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 200 | 0.0050 | 31 | c.814 others(48): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPHA5_chr4_65314567_65675489 | 65418862 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0023 | 1 | 234 | 0.0043 | 31 | c.152 others(50): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 6/16 | chr4 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65576054 | G | GAAAGAAA others(24): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02040.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0180a0001c0002t0002g0219 | 2 | 234 | 0.0086 | 31 | c.910 others(50): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134882765 | C | CCTTTCTT others(24): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01243.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0011a0001c0003t0001 | a0001c0001t0003g0090a0001c0002t0011g0098a0001c0003t0001g0089 | 3 | 134 | 0.0224 | 31 | c.59- others(48): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EPN2_chr17_19232366_19341715 | 19289724 | G | GTTTTGTT others(24): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 282 | 0.0036 | 31 | c.766 others(48): 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(24): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 282 | 0.0036 | 31 | c.114 others(50): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ERBB4_chr2_211370717_212543802 | 211562769 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 56 | 0.0179 | 31 | c.230 others(48): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211622990 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 56 | 0.0179 | 31 | c.220 others(48): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 18/27 | chr2 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 212345265 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0046 | 1 | 56 | 0.0179 | 31 | c.82+ others(50): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65984140 | A | ACTGACGT others(24): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02258.hp1 others(13): Show |
a0004 | a0004c0005a0004c0014a0004c0017 | a0004c0005t0004a0004c0005t0025a0004c0014t0004others(1): Show | a0004c0005t0004g0007a0004c0005t0004g0008a0004c0005t0004g0009others(13): Show | 16 | 306 | 0.0523 | 31 | c.-57 others(48): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERBIN_chr5_65921575_66087546 | 66018553 | T | TTATATTA others(24): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18978.hp1 NA18991.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0181a0002c0003t0003g0182a0002c0003t0003g0281others(1): Show | 4 | 306 | 0.0131 | 31 | c.534 others(48): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1126986 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0013 | a0001c0013t0063 | a0001c0013t0063g0077 | 1 | 162 | 0.0062 | 31 | c.156 others(52): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1138100 | T | TTATAATA others(24): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00741.hp1 others(29): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0076a0001c0001t0004g0078a0001c0001t0005g0041others(29): Show | 32 | 162 | 0.1975 | 31 | c.157 others(50): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTG others(24): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 378 | 0.0027 | 31 | c.169 others(48): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH4_chr19_41438156_41449765 | 41447972 | C | CCCCCATC others(24): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 31 | c.*37 others(42): Show |
ERICH4 | ENSG00000204978.3 | transcript | ENST00000378187.3 | protein_coding | 3208 | chr19 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CTTTCTTT others(24): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0431 | 1 | 442 | 0.0023 | 31 | c.101 others(50): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100063075 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199a0001c0001t0001g0204 | 2 | 220 | 0.0091 | 31 | c.58- others(46): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94689811 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 374 | 0.0027 | 31 | c.182 others(50): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRRG_chr1_216498251_216728429 | 216524252 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0008 | 1 | 286 | 0.0035 | 31 | c.863 others(48): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729615 | G | GTGCTGGG others(24): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0184 | 1 | 370 | 0.0027 | 31 | c.*45 others(42): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1381 | chr7 | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0110 | 2 | 334 | 0.0060 | 31 | c.732 others(46): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76227515 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02809.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106a0001c0001t0003g0107a0001c0001t0003g0108others(1): Show | 4 | 336 | 0.0119 | 31 | c.883 others(48): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76310369 | G | GAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0279 | 1 | 336 | 0.0030 | 31 | c.39+ others(44): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar |