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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERP44_chr9_99974185_100104000 | 100100725 | C | CATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01975.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0020 | 3 | 220 | 0.0136 | 28 | c.-18 others(39): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1726 | chr9 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100100811 | A | AATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 HG03239.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0038a0001c0001t0002g0045 | 3 | 220 | 0.0136 | 28 | c.-19 others(39): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1812 | chr9 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18993.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0302a0001c0008t0001g0316 | 2 | 390 | 0.0051 | 28 | c.226 others(45): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098563 | A | AGGACCGC others(21): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 NA19083.hp1 |
a0003 | a0003c0009a0003c0013 | a0003c0009t0006a0003c0013t0001 | a0003c0009t0006g0059a0003c0013t0001g0222 | 2 | 408 | 0.0049 | 28 | c.-18 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1776 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098579 | G | GACCGCCC others(21): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 NA19240.hp1 |
a0005 | a0005c0007a0005c0087 | a0005c0007t0008a0005c0087t0001 | a0005c0007t0008g0053a0005c0087t0001g0054 | 2 | 408 | 0.0049 | 28 | c.-18 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1760 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098581 | C | CCGCCCAC others(21): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0023 | 1 | 408 | 0.0025 | 28 | c.-18 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1758 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098591 | A | AGGACCGC others(21): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0291 | 1 | 408 | 0.0025 | 28 | c.-18 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1748 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098605 | A | AGGACCGC others(21): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0102 | a0005c0102t0001 | a0005c0102t0001g0226 | 1 | 408 | 0.0025 | 28 | c.-18 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1734 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098605 | A | AGGACCGC others(21): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG02071.hp2 others(2): Show |
a0003a0034 | a0003c0013a0003c0036a0034c0099 | a0003c0013t0001a0003c0036t0006a0034c0099t0003 | a0003c0013t0001g0139a0003c0013t0001g0228a0003c0036t0006g0037others(2): Show | 5 | 408 | 0.0123 | 28 | c.-18 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1734 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098609 | C | CCGCCCAC others(21): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG02723.hp2 HG04199.hp1 others(3): Show |
a0002a0003a0043others(1): Show | a0002c0001a0003c0009a0003c0010others(2): Show | a0002c0001t0002a0003c0009t0006a0003c0010t0019others(2): Show | a0002c0001t0002g0137a0003c0009t0006g0058a0003c0009t0006g0060others(3): Show | 6 | 408 | 0.0147 | 28 | c.-18 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1730 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098619 | G | GGGACCGC others(21): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 NA18944.hp2 NA18952.hp1 others(3): Show |
a0001a0002 | a0001c0005a0001c0008a0002c0004 | a0001c0005t0006a0001c0008t0004a0002c0004t0002 | a0001c0005t0006g0093a0001c0008t0004g0004a0001c0008t0004g0097others(3): Show | 6 | 408 | 0.0147 | 28 | c.-18 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1720 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098626 | C | CCCACATG others(21): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 NA19055.hp2 |
a0002a0045 | a0002c0020a0045c0095 | a0002c0020t0002a0045c0095t0006 | a0002c0020t0002g0304a0045c0095t0006g0196 | 2 | 408 | 0.0049 | 28 | c.-17 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1713 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098626 | C | CCCACATG others(21): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0082 | a0003c0082t0006 | a0003c0082t0006g0083 | 1 | 408 | 0.0025 | 28 | c.-17 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1713 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098633 | G | GGGACCGC others(21): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0009 | a0009c0025 | a0009c0025t0002 | a0009c0025t0002g0263 | 1 | 408 | 0.0025 | 28 | c.-17 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1706 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098633 | G | GGGACCGC others(21): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0315 | 1 | 408 | 0.0025 | 28 | c.-17 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1706 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098640 | C | CCCACATG others(21): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01168.hp2 others(32): Show |
a0001a0002a0003others(9): Show | a0001c0015a0001c0028a0001c0067others(13): Show | a0001c0015t0004a0001c0015t0009a0001c0015t0013others(16): Show | a0001c0015t0004g0002a0001c0015t0004g0014a0001c0015t0004g0177others(29): Show | 35 | 408 | 0.0858 | 28 | c.-17 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1699 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098640 | C | CCCACATG others(21): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0007 | a0005c0007t0008 | a0005c0007t0008g0104 | 1 | 408 | 0.0025 | 28 | c.-17 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1699 | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238098649 | G | GACCGCCC others(21): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0118 | a0002c0118t0007 | a0002c0118t0007g0153 | 1 | 408 | 0.0025 | 28 | c.-17 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1690 | chr2 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0139a0001c0006t0001g0345 | 2 | 374 | 0.0054 | 28 | c.-47 others(39): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94668789 | A | ATGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147a0001c0001t0001g0148 | 2 | 374 | 0.0054 | 28 | c.123 others(45): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94671740 | G | GATATTAG others(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297a0001c0001t0001g0299 | 2 | 374 | 0.0054 | 28 | c.145 others(44): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRRG_chr1_216498251_216728429 | 216511547 | T | TCACACAC others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp2 others(25): Show |
a0001 | a0001c0002a0001c0007a0001c0009 | a0001c0002t0001a0001c0002t0002a0001c0002t0025others(2): Show | a0001c0002t0001g0020a0001c0002t0001g0053a0001c0002t0001g0062others(25): Show | 28 | 286 | 0.0979 | 28 | c.113 others(47): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216569111 | A | AGGAAGGA others(21): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03834.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0163a0001c0002t0002g0205 | 2 | 286 | 0.0070 | 28 | c.590 others(45): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216672036 | A | AGGAAAGA others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0028a0001c0003t0004 | a0001c0001t0028g0028a0001c0003t0004g0030a0001c0003t0004g0032others(1): Show | 4 | 286 | 0.0140 | 28 | c.472 others(45): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729606 | A | AGTGTGGA others(21): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01257.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0018 | a0002c0002t0006g0003a0002c0002t0018g0143a0002c0002t0018g0144 | 4 | 370 | 0.0108 | 28 | c.*46 others(39): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1390 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729655 | G | GGCAAGTG others(21): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02965.hp1 others(1): Show |
a0003a0007 | a0003c0003a0007c0025 | a0003c0003t0004a0003c0003t0007a0003c0003t0023others(1): Show | a0003c0003t0004g0018a0003c0003t0007g0337a0003c0003t0023g0330others(1): Show | 4 | 370 | 0.0108 | 28 | c.*45 others(39): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1341 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729672 | T | TGGGGAGA others(21): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03130.hp1 |
a0001 | a0001c0014 | a0001c0014t0015 | a0001c0014t0015g0173a0001c0014t0015g0174 | 2 | 370 | 0.0054 | 28 | c.*45 others(39): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1324 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729695 | G | GGTGCTGG others(21): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0027 | a0002c0027t0044 | a0002c0027t0044g0194 | 1 | 370 | 0.0027 | 28 | c.*45 others(39): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1301 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729712 | A | AGCAAGTG others(21): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0323 | 1 | 370 | 0.0027 | 28 | c.*44 others(39): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1284 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729712 | A | AGCAAGTG others(21): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 NA18943.hp2 NA18948.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0027a0004c0005t0001 | a0001c0001t0001g0028a0001c0001t0001g0109a0001c0001t0001g0110others(4): Show | 7 | 370 | 0.0189 | 28 | c.*44 others(39): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1284 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158729730 | G | GGGGGGAT others(21): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01257.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0018 | a0002c0002t0006g0003a0002c0002t0006g0184a0002c0002t0018g0143others(1): Show | 5 | 370 | 0.0135 | 28 | c.*44 others(39): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1266 | chr7 | TogoVar | ||||||
ETF1_chr5_138501095_138548236 | 138501222 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 334 | 0.0030 | 28 | c.*70 others(39): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 4872 | chr5 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76295936 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02965.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0148a0001c0001t0004g0235a0001c0001t0009g0239 | 3 | 336 | 0.0089 | 28 | c.40- others(41): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76310369 | G | GAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0333 | 1 | 336 | 0.0030 | 28 | c.39+ others(41): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
ETFRF1_chr12_25190237_25210143 | 25202063 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130a0001c0001t0003g0131 | 2 | 390 | 0.0051 | 28 | c.-37 others(45): Show |
ETFRF1 | ENSG00000205707.11 | transcript | ENST00000381356.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ETNPPL_chr4_108737053_108768053 | 108741303 | T | TGTGTGTG others(21): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 378 | 0.0027 | 28 | c.*11 others(39): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 749 | chr4 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108753749 | T | TAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG02083.hp2 NA19063.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216a0001c0001t0001g0219a0001c0001t0001g0245 | 3 | 378 | 0.0079 | 28 | c.502 others(43): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128455759 | T | TATCTTGA others(21): Show |
downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0010 | 1 | 286 | 0.0035 | 28 | c.*66 others(39): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 3005 | chr11 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128585315 | A | AGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0132 | 1 | 286 | 0.0035 | 28 | c.-15 others(45): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ETV2_chr19_35636745_35649871 | 35638908 | C | CAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG03834.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 5 | 438 | 0.0114 | 28 | c.-32 others(39): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 2836 | chr19 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11650481 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0042 | a0001c0001t0003g0015a0001c0001t0042g0014 | 2 | 262 | 0.0076 | 28 | c.33+ others(41): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ETV6_chr12_11644674_11900377 | 11669373 | T | TCCTCCCT others(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0036others(6): Show | a0001c0001t0004g0080a0001c0001t0011g0220a0001c0001t0036g0221others(7): Show | 10 | 262 | 0.0382 | 28 | c.33+ others(45): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EVA1A_chr2_75487318_75565939 | 75555301 | A | ATATCTCT others(21): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0060 | 1 | 384 | 0.0026 | 28 | c.-19 others(47): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
EVA1A_chr2_75487318_75565939 | 75555301 | A | ATCTCTCT others(21): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | 384 | 0.0052 | 28 | c.-19 others(47): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
EVA1A_chr2_75487318_75565939 | 75555336 | T | TCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0336 | 1 | 384 | 0.0026 | 28 | c.-19 others(47): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
EVA1A_chr2_75487318_75565939 | 75555336 | T | TCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01258.hp1 HG01346.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0276a0001c0001t0002g0312a0001c0001t0002g0313others(8): Show | 11 | 384 | 0.0287 | 28 | c.-19 others(47): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32503549 | A | AAAATAAA others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01074.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(22): Show | 25 | 346 | 0.0723 | 28 | c.860 others(43): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 292 | 0.0034 | 28 | c.114 others(47): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0253 | 1 | 292 | 0.0034 | 28 | c.114 others(47): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | ||||||
EVX2_chr2_176072472_176088962 | 176084421 | G | GTTTTTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0015 | 1 | 430 | 0.0023 | 28 | c.-64 others(37): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar |