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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERC2_chr3_55503311_56473467 | 56023767 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0021 a0001c0002t0001g0014 a0001c0002t0001g0042 |
3 | 74 | 0.0405 | 24 | c.164 others(43): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56023774 | T | TGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02040.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0048 a0001c0001t0002g0032 a0001c0001t0002g0034 others(1): Show |
4 | 74 | 0.0541 | 24 | c.164 others(43): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56032885 | A | AAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 74 | 0.0135 | 24 | c.164 others(45): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56040580 | C | CATATACA others(17): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0023 | 1 | 74 | 0.0135 | 24 | c.164 others(45): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56040582 | T | TATACATA others(17): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 74 | 0.0135 | 24 | c.164 others(45): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56101393 | T | TTCCTGTA others(17): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0004 a0001c0001t0002g0019 a0001c0001t0002g0040 others(13): Show |
16 | 74 | 0.2162 | 24 | c.147 others(45): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56186114 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0039 | 1 | 74 | 0.0135 | 24 | c.107 others(45): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
ERCC1_chr19_45402334_45428917 | 45410565 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02257.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 4 | 420 | 0.0095 | 24 | c.844 others(39): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
ERCC5_chr13_102841032_102880995 | 102864126 | C | CCACACAC others(17): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 394 | 0.0025 | 24 | c.195 others(43): Show |
ERCC5 | ENSG00000134899.24 | transcript | ENST00000652225.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95907826 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0213 | 1 | 392 | 0.0026 | 24 | c.788 others(39): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95907836 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02818.hp2 HG02886.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0014a0006c0007t0003others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0014g0042 others(6): Show |
9 | 392 | 0.0230 | 24 | c.788 others(39): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ERCC6L2_chr9_95870691_96023447 | 95907838 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01167.hp1 others(27): Show |
a0001a0004a0009 | a0001c0005a0004c0004a0009c0011 | a0001c0005t0009a0001c0005t0072a0001c0005t0073others(6): Show | a0001c0005t0009g0221 a0001c0005t0009g0222 a0001c0005t0009g0227 others(26): Show |
30 | 392 | 0.0765 | 24 | c.788 others(39): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EREG_chr4_74360145_74393749 | 74363493 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0003g0223 a0001c0001t0007g0228 |
3 | 358 | 0.0084 | 24 | c.-18 others(35): Show |
EREG | ENSG00000124882.4 | transcript | ENST00000244869.3 | protein_coding | 1651 | chr4 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03491.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0218 others(1): Show |
4 | 334 | 0.0120 | 24 | c.83- others(39): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATATGT others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01943.hp1 HG04199.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0032 a0001c0001t0001g0201 a0001c0001t0001g0229 others(3): Show |
6 | 334 | 0.0180 | 24 | c.83- others(39): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893905 | A | ATATGTGT others(17): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0259 |
2 | 334 | 0.0060 | 24 | c.83- others(39): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893913 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0003g0334 others(10): Show |
13 | 334 | 0.0389 | 24 | c.83- others(39): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893935 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0014 a0001c0001t0026g0241 |
2 | 334 | 0.0060 | 24 | c.83- others(39): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893935 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02165.hp1 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0027 | a0001c0001t0001g0048 a0001c0001t0001g0230 a0001c0001t0002g0053 others(1): Show |
4 | 334 | 0.0120 | 24 | c.83- others(39): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172893935 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0016g0196 |
3 | 334 | 0.0090 | 24 | c.83- others(39): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38407634 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02258.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0255 a0001c0001t0001g0344 a0001c0001t0001g0353 others(1): Show |
4 | 360 | 0.0111 | 24 | c.389 others(41): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar | |||||||
ERI1_chr8_8997897_9038338 | 8999118 | A | AAAATAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0008 | a0004c0008t0050 | a0004c0008t0050g0301 | 1 | 426 | 0.0024 | 24 | c.-39 others(35): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 3778 | chr8 | TogoVar | |||||||
ERI1_chr8_8997897_9038338 | 9035172 | C | CAAGTTAT others(17): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01192.hp1 |
a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0083 a0001c0002t0021g0085 |
2 | 426 | 0.0047 | 24 | c.*51 others(35): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 1835 | chr8 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44259689 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 340 | 0.0029 | 24 | c.832 others(43): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073432 | C | CTCTATAT others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 442 | 0.0023 | 24 | c.58+ others(39): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073432 | C | CTCTCTAT others(17): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 442 | 0.0023 | 24 | c.58+ others(39): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98084134 | C | CTGCCTTA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 442 | 0.0023 | 24 | c.59- others(39): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CTTTCTTT others(17): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 442 | 0.0023 | 24 | c.101 others(43): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0340 a0001c0001t0002g0392 |
2 | 442 | 0.0045 | 24 | c.101 others(43): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98091993 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00673.hp2 others(56): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(54): Show |
59 | 442 | 0.1335 | 24 | c.101 others(43): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH6B_chr13_45536294_45620739 | 45577276 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
a0004a0009a0018 | a0004c0004a0009c0010a0018c0018 | a0004c0004t0001a0009c0010t0001a0018c0018t0001 | a0004c0004t0001g0209 a0004c0004t0001g0245 a0009c0010t0001g0292 others(2): Show |
5 | 326 | 0.0153 | 24 | c.962 others(41): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 7/14 | chr13 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150672264 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02965.hp1 |
a0001a0003 | a0001c0024a0003c0004 | a0001c0024t0001a0003c0004t0001 | a0001c0024t0001g0126 a0003c0004t0001g0188 |
2 | 348 | 0.0058 | 24 | c.134 others(43): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150702920 | G | GAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01952.hp1 HG02257.hp1 others(2): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0006c0007t0001 | a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 others(2): Show |
5 | 348 | 0.0144 | 24 | c.403 others(39): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150703803 | T | TTCCTCCT others(17): Show |
disruptive_inframe_insertion | MODERATE | NA18973.hp1 | a0017 | a0017c0038 | a0017c0038t0002 | a0017c0038t0002g0309 | 1 | 348 | 0.0029 | 24 | c.95_ others(29): Show |
p.Glu others(35): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 117/2021 | 95/1992 | 32/663 | chr3 | TogoVar | |||
ERLIN2_chr8_37731634_37763422 | 37734461 | C | CAGGAAGG others(17): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG02055.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0002g0001 others(1): Show |
4 | 224 | 0.0179 | 24 | c.-22 others(35): Show |
ERLIN2 | ENSG00000147475.17 | transcript | ENST00000519638.3 | protein_coding | 2172 | chr8 | TogoVar | |||||||
ERN1_chr17_64034142_64135144 | 64119376 | G | GTTGTTTT others(17): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 a0001c0002t0001g0168 |
2 | 234 | 0.0086 | 24 | c.54+ others(41): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236245318 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0069 a0002c0002t0004g0076 |
2 | 396 | 0.0051 | 24 | c.432 others(41): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100043291 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 220 | 0.0046 | 24 | c.286 others(41): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100063075 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 HG02027.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0140 others(5): Show |
8 | 220 | 0.0364 | 24 | c.58- others(39): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100063092 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 220 | 0.0046 | 24 | c.58- others(39): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007481 | C | CTCTCTCT others(17): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 402 | 0.0025 | 24 | c.*57 others(35): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4245 | chr1 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007497 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 402 | 0.0025 | 24 | c.*57 others(35): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4229 | chr1 | TogoVar | |||||||
ERVV-2_chr19_53039740_53056680 | 53044536 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0057 | a0001c0002t0057g0036 | 1 | 446 | 0.0022 | 24 | c.-80 others(33): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 203 | chr19 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21525012 | G | GTGTATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0240 | 1 | 310 | 0.0032 | 24 | c.*53 others(35): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 4271 | chr18 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21593597 | T | TAGGGAGA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01169.hp1 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0002others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0034 others(32): Show |
37 | 310 | 0.1194 | 24 | c.-82 others(43): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21593599 | G | GGGAGAGG others(17): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0240 | 1 | 310 | 0.0032 | 24 | c.-82 others(43): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
ESCO1_chr18_21524284_21605704 | 21593605 | G | GGGAGAGG others(17): Show |
intron_variant | MODIFIER | NA18941.hp2 NA19003.hp2 NA19081.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0266 |
3 | 310 | 0.0097 | 24 | c.-82 others(43): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18955.hp1 NA19007.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0011 a0002c0003t0001g0140 a0002c0003t0001g0145 |
4 | 390 | 0.0103 | 24 | c.226 others(41): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13718753 | C | CATAAAAA others(17): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 390 | 0.0026 | 24 | c.211 others(41): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 12/13 | chr20 | TogoVar | |||||||
ESR1_chr6_151802682_152108274 | 151806530 | G | GTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0204 | 1 | 250 | 0.0040 | 24 | c.-13 others(35): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 1151 | chr6 | TogoVar |