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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0160 | 1 | 390 | 0.0026 | 22 | c.226 others(39): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
ESPNL_chr2_238095340_238138287 | 238126921 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(194): Show |
a0001a0002a0003others(26): Show | a0001c0005a0001c0008a0001c0015others(55): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0006others(76): Show | a0001c0005t0001g0122 a0001c0005t0003g0009 a0001c0005t0003g0050 others(164): Show |
197 | 408 | 0.4828 | 22 | c.110 others(39): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151806557 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0018 | 1 | 250 | 0.0040 | 22 | c.-13 others(33): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 1124 | chr6 | TogoVar | |||||||
ESR1_chr6_151802682_152108274 | 151958973 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 250 | 0.0040 | 22 | c.109 others(43): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01361.hp1 HG01433.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 others(13): Show |
16 | 374 | 0.0428 | 22 | c.-47 others(33): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94667068 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02717.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0364 |
3 | 374 | 0.0080 | 22 | c.932 others(37): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94689811 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03017.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0295 a0001c0001t0001g0301 |
3 | 374 | 0.0080 | 22 | c.182 others(41): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76408591 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0184 | 1 | 318 | 0.0031 | 22 | c.51- others(39): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76485626 | T | TGAGAGAG others(15): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0132 a0001c0001t0008g0258 |
2 | 318 | 0.0063 | 22 | c.850 others(39): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76489445 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02074.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0002g0057 a0001c0001t0002g0074 a0001c0001t0007g0109 others(4): Show |
7 | 318 | 0.0220 | 22 | c.851 others(39): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216511547 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG01258.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0021 | a0001c0002t0002g0075 a0001c0002t0002g0119 a0001c0002t0002g0146 others(9): Show |
12 | 286 | 0.0420 | 22 | c.113 others(41): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516636 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01261.hp2 HG02738.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0061 a0001c0001t0001g0098 a0001c0001t0001g0135 others(5): Show |
8 | 286 | 0.0280 | 22 | c.113 others(41): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516668 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 a0001c0001t0001g0249 |
2 | 286 | 0.0070 | 22 | c.113 others(41): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516668 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0037 | 1 | 286 | 0.0035 | 22 | c.113 others(41): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516668 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0008 | 1 | 286 | 0.0035 | 22 | c.113 others(41): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216682709 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01123.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0210 others(6): Show |
9 | 286 | 0.0315 | 22 | c.57- others(37): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158729188 | A | AGGAGCAA others(15): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(85): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0010others(4): Show | a0001c0001t0002a0001c0001t0043a0002c0002t0002others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0052 others(84): Show |
88 | 370 | 0.2378 | 22 | c.*50 others(33): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1808 | chr7 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158729353 | G | GCTGGGGG others(15): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03130.hp1 |
a0001 | a0001c0014 | a0001c0014t0015 | a0001c0014t0015g0173 a0001c0014t0015g0174 |
2 | 370 | 0.0054 | 22 | c.*48 others(33): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1643 | chr7 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138501222 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0188 |
2 | 334 | 0.0060 | 22 | c.*70 others(33): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 4872 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512197 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 334 | 0.0030 | 22 | c.732 others(37): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0203 |
2 | 334 | 0.0060 | 22 | c.732 others(37): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 334 | 0.0030 | 22 | c.732 others(37): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76272813 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0234 a0001c0001t0004g0237 |
2 | 336 | 0.0060 | 22 | c.816 others(39): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 9/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76295936 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00621.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0131 others(24): Show |
27 | 336 | 0.0804 | 22 | c.40- others(35): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76310068 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 336 | 0.0030 | 22 | c.39+ others(37): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76311932 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 NA19090.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0032 a0001c0001t0002g0145 a0001c0001t0004g0102 |
3 | 336 | 0.0089 | 22 | c.-54 others(31): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 464 | chr15 | TogoVar | |||||||
ETFDH_chr4_158667296_158714623 | 158689595 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0238 a0001c0001t0007g0216 |
2 | 298 | 0.0067 | 22 | c.607 others(37): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ETFDH_chr4_158667296_158714623 | 158689636 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03471.hp1 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0010 | a0002c0002t0001g0141 a0002c0002t0005g0140 a0002c0002t0010g0157 |
3 | 298 | 0.0101 | 22 | c.607 others(37): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ETFRF1_chr12_25190237_25210143 | 25199619 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 2 | 390 | 0.0051 | 22 | c.-38 others(39): Show |
ETFRF1 | ENSG00000205707.11 | transcript | ENST00000381356.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETFRF1_chr12_25190237_25210143 | 25202063 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0023 a0001c0001t0003g0052 a0001c0001t0004g0123 |
7 | 390 | 0.0180 | 22 | c.-37 others(39): Show |
ETFRF1 | ENSG00000205707.11 | transcript | ENST00000381356.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108741276 | T | TTGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 HG03704.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0253 a0002c0002t0001g0302 a0002c0002t0001g0305 |
3 | 378 | 0.0079 | 22 | c.*12 others(33): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 776 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108741303 | T | TGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 378 | 0.0027 | 22 | c.*11 others(33): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 749 | chr4 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128544340 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0168 a0001c0002t0004g0120 |
2 | 286 | 0.0070 | 22 | c.214 others(41): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
ETV2_chr19_35636745_35649871 | 35638908 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01928.hp2 HG03669.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
6 | 438 | 0.0137 | 22 | c.-32 others(33): Show |
ETV2 | ENSG00000105672.15 | transcript | ENST00000402764.6 | protein_coding | 2836 | chr19 | TogoVar | |||||||
ETV4_chr17_43522846_43551340 | 43543276 | A | ACTCTCCC others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00741.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0028 others(16): Show |
38 | 398 | 0.0955 | 22 | c.202 others(39): Show |
ETV4 | ENSG00000175832.13 | transcript | ENST00000319349.10 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
ETV4_chr17_43522846_43551340 | 43543296 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 398 | 0.0025 | 22 | c.202 others(39): Show |
ETV4 | ENSG00000175832.13 | transcript | ENST00000319349.10 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
ETV6_chr12_11644674_11900377 | 11874684 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0262 | 1 | 262 | 0.0038 | 22 | c.100 others(41): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11883276 | C | CTTCTTCT others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0253 | 1 | 262 | 0.0038 | 22 | c.101 others(41): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ETV6_chr12_11644674_11900377 | 11893841 | T | TATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0247 | 1 | 262 | 0.0038 | 22 | c.*27 others(33): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 8/8 | 2797 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EVA1A_chr2_75487318_75565939 | 75555301 | A | ATCTCTCT others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02280.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0036 a0001c0001t0007g0105 a0001c0001t0008g0240 others(2): Show |
5 | 384 | 0.0130 | 22 | c.-19 others(41): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
EVA1A_chr2_75487318_75565939 | 75555336 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG04199.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0280 a0001c0001t0004g0235 a0001c0001t0004g0355 others(2): Show |
5 | 384 | 0.0130 | 22 | c.-19 others(41): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
EVA1C_chr21_32407706_32520387 | 32448916 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(271): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(271): Show |
274 | 346 | 0.7919 | 22 | c.161 others(39): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATAGAGA others(15): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0067 | a0004c0067t0001 | a0004c0067t0001g0138 | 1 | 292 | 0.0034 | 22 | c.114 others(41): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18948.hp2 |
a0001a0006 | a0001c0003a0006c0009 | a0001c0003t0001a0006c0009t0001 | a0001c0003t0001g0054 a0006c0009t0001g0266 |
2 | 292 | 0.0069 | 22 | c.114 others(41): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0012 | 1 | 292 | 0.0034 | 22 | c.114 others(41): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02602.hp2 HG03669.hp2 |
a0001a0004 | a0001c0003a0004c0005a0004c0066 | a0001c0003t0003a0004c0005t0001a0004c0066t0001 | a0001c0003t0003g0014 a0004c0005t0001g0154 a0004c0066t0001g0117 |
3 | 292 | 0.0103 | 22 | c.114 others(41): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0007 | 1 | 292 | 0.0034 | 22 | c.114 others(41): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0270 | 1 | 292 | 0.0034 | 22 | c.114 others(41): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5650638 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0207 | 1 | 292 | 0.0034 | 22 | c.114 others(41): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5709905 | G | GAAATGTA others(15): Show |
upstream_gene_variant | MODIFIER | NA19006.hp1 | a0062 | a0062c0077 | a0062c0077t0025 | a0062c0077t0025g0336 | 1 | 369 | 0.0027 | 22 | c.-14 others(33): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 1295 | chr4 | TogoVar |