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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERICH6B_chr13_45536294_45620739 | 45577276 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02080.hp2 NA19003.hp2 |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0001a0005c0005t0005 | a0004c0004t0001g0267 a0005c0005t0005g0128 |
2 | 326 | 0.0061 | 21 | c.962 others(38): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 7/14 | chr13 | TogoVar | |||||||
ERICH6B_chr13_45536294_45620739 | 45606547 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 326 | 0.0031 | 21 | c.-59 others(38): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150703732 | A | ACCACCTC others(14): Show |
conservative_inframe_insertion | MODERATE | HG01981.hp2 | a0002 | a0002c0029 | a0002c0029t0001 | a0002c0029t0001g0137 | 1 | 348 | 0.0029 | 21 | c.146 others(28): Show |
p.Glu others(11): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 188/2021 | 166/1992 | 56/663 | chr3 | TogoVar | |||
ERICH6_chr3_150654885_150708920 | 150703740 | C | CTCCTCCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(124): Show |
a0002a0004a0012others(7): Show | a0002c0001a0002c0028a0004c0005others(8): Show | a0002c0001t0001a0002c0001t0002a0002c0028t0001others(10): Show | a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0003 others(117): Show |
127 | 348 | 0.3649 | 21 | c.138 others(28): Show |
p.Glu others(32): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 180/2021 | 158/1992 | 53/663 | chr3 | TogoVar | |||
ERLEC1_chr2_53782044_53823796 | 53804331 | T | TGGCGCAA others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0220 |
2 | 374 | 0.0054 | 21 | c.879 others(38): Show |
ERLEC1 | ENSG00000068912.15 | transcript | ENST00000185150.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ERMARD_chr6_169746622_169786600 | 169774138 | A | ATCCTGGC others(14): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 379 | 0.0026 | 21 | c.131 others(38): Show |
ERMARD | ENSG00000130023.16 | transcript | ENST00000366773.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100063075 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01516.hp2 NA18964.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0114 a0001c0001t0007g0130 a0001c0001t0007g0131 |
3 | 220 | 0.0136 | 21 | c.58- others(36): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ERVV-2_chr19_53039740_53056680 | 53044536 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG01175.hp2 others(22): Show |
a0001a0004a0009 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(8): Show | a0001c0001t0002g0016 a0001c0001t0005g0016 a0001c0001t0017g0047 others(12): Show |
25 | 446 | 0.0561 | 21 | c.-80 others(30): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 203 | chr19 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 390 | 0.0026 | 21 | c.226 others(38): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
ESR2_chr14_64223317_64299371 | 64246734 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0007 | a0007c0012 | a0007c0012t0013 | a0007c0012t0013g0241 | 1 | 368 | 0.0027 | 21 | c.122 others(40): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 7/8 | chr14 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01069.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0153 a0001c0001t0001g0155 others(28): Show |
32 | 374 | 0.0856 | 21 | c.-47 others(32): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94682933 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 374 | 0.0027 | 21 | c.182 others(40): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | chr8 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94689811 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0338 | 1 | 374 | 0.0027 | 21 | c.182 others(40): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRRA_chr11_64300524_64321743 | 64306799 | C | CATCTGGA others(14): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0221 |
2 | 388 | 0.0052 | 21 | c.-12 others(36): Show |
ESRRA | ENSG00000173153.17 | transcript | ENST00000000442.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ESRRA_chr11_64300524_64321743 | 64320318 | A | AAGGAGTA others(14): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0157 | 1 | 388 | 0.0026 | 21 | c.*43 others(32): Show |
ESRRA | ENSG00000173153.17 | transcript | ENST00000000442.11 | protein_coding | 3576 | chr11 | TogoVar | |||||||
ESRRB_chr14_76371137_76506837 | 76485660 | A | AGAGAGAG others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 318 | 0.0031 | 21 | c.850 others(38): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | chr14 | TogoVar | |||||||
ESRRB_chr14_76371137_76506837 | 76489569 | G | GTTGATCA others(14): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 318 | 0.0031 | 21 | c.851 others(38): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESYT3_chr3_138429616_138484925 | 138443756 | G | GTGTGTGT others(14): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01243.hp1 others(64): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0012others(12): Show | a0001c0001t0002g0024 a0001c0001t0002g0097 a0001c0001t0009g0096 others(49): Show |
67 | 338 | 0.1982 | 21 | c.328 others(38): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512197 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0118 others(1): Show |
4 | 334 | 0.0120 | 21 | c.732 others(36): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02071.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0163 |
2 | 334 | 0.0060 | 21 | c.732 others(36): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 334 | 0.0030 | 21 | c.732 others(36): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 334 | 0.0030 | 21 | c.732 others(36): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 334 | 0.0030 | 21 | c.732 others(36): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512259 | T | TATATTAT others(14): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 334 | 0.0030 | 21 | c.732 others(36): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76295936 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00738.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0004 | a0001c0001t0002g0002 a0001c0001t0002g0116 a0001c0001t0002g0117 others(26): Show |
30 | 336 | 0.0893 | 21 | c.40- others(34): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76310068 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02280.hp2 NA19079.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0004 | a0001c0001t0002g0205 a0001c0001t0003g0115 a0002c0002t0004g0253 |
3 | 336 | 0.0089 | 21 | c.39+ others(36): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76311932 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG02647.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0130 others(2): Show |
5 | 336 | 0.0149 | 21 | c.-54 others(30): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 464 | chr15 | TogoVar | |||||||
ETNK2_chr1_204126062_204157044 | 204129288 | T | TCTCCGCC others(14): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 422 | 0.0024 | 21 | c.*28 others(32): Show |
ETNK2 | ENSG00000143845.15 | transcript | ENST00000367202.9 | protein_coding | 1773 | chr1 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128569318 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0006a0001c0002t0012others(1): Show | a0001c0001t0001g0216 a0001c0002t0006g0140 a0001c0002t0012g0143 others(1): Show |
4 | 286 | 0.0140 | 21 | c.69+ others(36): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
ETV2_chr19_35636745_35649871 | 35638908 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
7 | 438 | 0.0160 | 21 | c.-32 others(32): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 2836 | chr19 | TogoVar | |||||||
ETV6_chr12_11644674_11900377 | 11650481 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 1 | 262 | 0.0038 | 21 | c.33+ others(34): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EVA1A_chr2_75487318_75565939 | 75555337 | C | CTCTCTCT others(14): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02109.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0005 | a0001c0001t0008g0239 a0001c0002t0005g0099 |
2 | 384 | 0.0052 | 21 | c.-19 others(40): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
EVI5_chr1_92503696_92790108 | 92565948 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0026others(1): Show | a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0005g0052 others(4): Show |
7 | 168 | 0.0417 | 21 | c.207 others(40): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
EVI5_chr1_92503696_92790108 | 92669547 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01346.hp2 HG01943.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0002g0085 others(4): Show |
7 | 168 | 0.0417 | 21 | c.115 others(40): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 10/19 | chr1 | TogoVar | |||||||
EVL_chr14_100060422_100149236 | 100144342 | A | ATGGCGGT others(14): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 a0001c0001t0001g0273 |
2 | 354 | 0.0057 | 21 | c.*60 others(30): Show |
EVL | ENSG00000196405.13 | transcript | ENST00000392920.8 | protein_coding | 107 | chr14 | TogoVar | |||||||
EVPLL_chr17_18372778_18394647 | 18373800 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01261.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 a0001c0003t0002g0005 |
7 | 408 | 0.0172 | 21 | c.-42 others(32): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 3977 | chr17 | TogoVar | |||||||
EVX2_chr2_176072472_176088962 | 176076295 | T | TTAGCAAA others(14): Show |
downstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 430 | 0.0023 | 21 | c.*38 others(32): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 1176 | chr2 | TogoVar | |||||||
EVX2_chr2_176072472_176088962 | 176084421 | G | GTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 HG02886.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0003t0005 | a0001c0002t0007g0013 a0001c0003t0005g0008 |
4 | 430 | 0.0093 | 21 | c.-64 others(30): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329073 | G | GGCTACAC others(14): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0039 | 1 | 82 | 0.0122 | 21 | c.199 others(40): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329626 | A | AGCTACAC others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 82 | 0.0122 | 21 | c.199 others(40): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137346238 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01975.hp2 HG03098.hp2 |
a0008a0023 | a0008c0013a0023c0016 | a0008c0013t0001a0023c0016t0001 | a0008c0013t0001g0039 a0023c0016t0001g0019 |
2 | 82 | 0.0244 | 21 | c.199 others(40): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137408546 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02922.hp1 others(2): Show |
a0001a0002a0010others(2): Show | a0001c0001a0002c0002a0010c0006others(2): Show | a0001c0001t0001a0002c0002t0001a0010c0006t0001others(2): Show | a0001c0001t0001g0009 a0002c0002t0001g0036 a0010c0006t0001g0008 others(2): Show |
5 | 82 | 0.0610 | 21 | c.-47 others(40): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 1/21 | chr9 | TogoVar | |||||||
EXO5_chr1_40503767_40521038 | 40505712 | G | GTAGCCTC others(14): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0002 | 1 | 406 | 0.0025 | 21 | c.-34 others(32): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 3054 | chr1 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501502 | C | CTATATAT others(14): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01081.hp2 others(7): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0012 | a0001c0001t0001a0001c0001t0023a0001c0002t0001others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0096 a0001c0001t0001g0121 others(7): Show |
10 | 272 | 0.0368 | 21 | c.238 others(40): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 652055 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0009 | a0004c0009t0009 | a0004c0009t0009g0148 | 1 | 272 | 0.0037 | 21 | c.-43 others(40): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 685869 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0205 | 1 | 272 | 0.0037 | 21 | c.-44 others(38): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 695389 | C | CGGCTCTC others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(162): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(162): Show |
165 | 272 | 0.6066 | 21 | c.-24 others(32): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 2251 | chr6 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 443229 | G | GGGCGGCG others(14): Show |
5_prime_UTR_variant | MODIFIER | NA18747.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0002 a0001c0002t0017g0092 |
2 | 418 | 0.0048 | 21 | c.-89 others(28): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2927 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133516758 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG04184.hp2 NA18945.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0001a0001c0003t0002 | a0001c0001t0005g0051 a0001c0003t0001g0006 a0001c0003t0002g0015 others(3): Show |
6 | 102 | 0.0588 | 21 | c.141 others(42): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133558201 | C | CTTTTCTT others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0052 a0001c0003t0002g0021 |
2 | 102 | 0.0196 | 21 | c.141 others(42): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |