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(11): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18975.hp1 NA18993.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0002t0001a0005c0009t0001 | a0001c0001t0001g0325 a0001c0002t0001g0186 a0005c0009t0001g0365 others(1): Show |
4 | 390 | 0.0103 | 18 | c.226 others(35): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13748403 | T | TATATACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(250): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0019others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(232): Show |
253 | 390 | 0.6487 | 18 | c.182 others(39): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 9/13 | chr20 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13748419 | T | TACATATA others(11): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0240 | 1 | 390 | 0.0026 | 18 | c.182 others(39): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 9/13 | chr20 | TogoVar | |||||||
ESPNL_chr2_238095340_238138287 | 238137196 | C | CGAGCAGG others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0018a0001c0109a0002c0004others(10): Show | a0001c0018t0001a0001c0109t0001a0002c0004t0002others(13): Show | a0001c0018t0001g0041 a0001c0018t0001g0216 a0001c0109t0001g0224 others(34): Show |
39 | 408 | 0.0956 | 18 | c.*54 others(29): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 3910 | chr2 | TogoVar | |||||||
ESR1_chr6_151802682_152108274 | 151806530 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG00741.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0001t0001g0028 a0001c0002t0002g0131 a0001c0002t0002g0155 others(10): Show |
13 | 250 | 0.0520 | 18 | c.-13 others(29): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 1151 | chr6 | TogoVar | |||||||
ESR1_chr6_151802682_152108274 | 151806557 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0009 | a0002c0009t0006 | a0002c0009t0006g0200 | 1 | 250 | 0.0040 | 18 | c.-13 others(29): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 1124 | chr6 | TogoVar | |||||||
ESR1_chr6_151802682_152108274 | 151806557 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00733.hp2 others(1): Show |
a0001 | a0001c0008a0001c0010 | a0001c0008t0001a0001c0010t0002a0001c0010t0003 | a0001c0008t0001g0158 a0001c0010t0002g0009 a0001c0010t0002g0010 others(1): Show |
4 | 250 | 0.0160 | 18 | c.-13 others(29): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 1124 | chr6 | TogoVar | |||||||
ESR1_chr6_151802682_152108274 | 151850080 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 250 | 0.0040 | 18 | c.643 others(35): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151958973 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 250 | 0.0040 | 18 | c.109 others(39): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 152002185 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0089 | 1 | 250 | 0.0040 | 18 | c.109 others(37): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64226698 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02132.hp2 NA18953.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0035a0001c0001t0042 | a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0024 others(5): Show |
8 | 368 | 0.0217 | 18 | c.*64 others(29): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 1618 | chr14 | TogoVar | |||||||
ESR2_chr14_64223317_64299371 | 64246734 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0267 | 1 | 368 | 0.0027 | 18 | c.122 others(37): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 7/8 | chr14 | TogoVar | |||||||
ESR2_chr14_64223317_64299371 | 64253592 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0023a0001c0001t0035 | a0001c0001t0013g0199 a0001c0001t0023g0195 a0001c0001t0023g0196 others(2): Show |
5 | 368 | 0.0136 | 18 | c.109 others(37): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 6/8 | chr14 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94636525 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0136 | 1 | 374 | 0.0027 | 18 | c.-47 others(29): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4648 | chr8 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94667068 | G | GGGGTGTG others(11): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0338 | 1 | 374 | 0.0027 | 18 | c.932 others(33): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94667068 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0006a0001c0011t0001 | a0001c0001t0001g0138 a0001c0001t0001g0169 a0001c0001t0001g0180 others(10): Show |
13 | 374 | 0.0348 | 18 | c.932 others(33): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94668789 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01943.hp2 HG01978.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0085 a0001c0002t0001g0097 a0001c0002t0001g0124 others(8): Show |
11 | 374 | 0.0294 | 18 | c.123 others(35): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94682904 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0186 |
2 | 374 | 0.0054 | 18 | c.182 others(37): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94689811 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0006a0001c0008t0001 | a0001c0001t0001g0139 a0001c0001t0001g0292 a0001c0001t0001g0297 others(6): Show |
9 | 374 | 0.0241 | 18 | c.182 others(37): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76413970 | C | CCCGCCCC others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 318 | 0.0031 | 18 | c.51- others(35): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76414058 | C | CCCGCCCC others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0213 a0001c0002t0006g0307 |
2 | 318 | 0.0063 | 18 | c.51- others(35): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76414110 | C | CCCCGCCC others(11): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 318 | 0.0031 | 18 | c.51- others(35): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76420558 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0137 a0001c0001t0007g0134 |
2 | 318 | 0.0063 | 18 | c.51- others(35): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76460709 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0031 | a0001c0001t0017g0023 a0001c0001t0031g0033 |
2 | 318 | 0.0063 | 18 | c.461 others(35): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76463441 | C | CTTTGTTT others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0183 | 1 | 318 | 0.0031 | 18 | c.577 others(33): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76463441 | C | CTTTGTTT others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01106.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0165 a0001c0001t0006g0137 a0001c0001t0007g0134 others(6): Show |
10 | 318 | 0.0315 | 18 | c.577 others(33): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76463445 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0223 a0001c0001t0007g0230 |
2 | 318 | 0.0063 | 18 | c.577 others(33): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76463445 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(34): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(34): Show |
37 | 318 | 0.1164 | 18 | c.577 others(33): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76485626 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02293.hp1 HG04204.hp2 NA18963.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0163 a0001c0001t0002g0080 a0001c0001t0016g0191 others(1): Show |
4 | 318 | 0.0126 | 18 | c.850 others(35): 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(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG01952.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0154 a0001c0001t0002g0030 a0001c0001t0002g0072 others(8): Show |
11 | 318 | 0.0346 | 18 | c.851 others(35): 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(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0251 | 1 | 286 | 0.0035 | 18 | c.113 others(37): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516636 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG01123.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0077 others(21): Show |
24 | 286 | 0.0839 | 18 | c.113 others(37): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516668 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01168.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0070 a0001c0001t0001g0199 a0001c0001t0001g0210 others(5): Show |
8 | 286 | 0.0280 | 18 | c.113 others(37): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516668 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 286 | 0.0035 | 18 | c.113 others(37): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516668 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0028a0001c0003t0002 | a0001c0001t0028g0028 a0001c0003t0002g0044 |
2 | 286 | 0.0070 | 18 | c.113 others(37): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516668 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004 | a0001c0003t0002g0124 a0001c0003t0004g0016 a0001c0003t0004g0030 others(4): Show |
7 | 286 | 0.0245 | 18 | c.113 others(37): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216516668 | C | CACACAGA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0018 a0001c0003t0004g0082 |
2 | 286 | 0.0070 | 18 | c.113 others(37): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216542072 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0005 | 1 | 286 | 0.0035 | 18 | c.862 others(37): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216682709 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG02622.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(3): Show | a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0005g0091 others(8): Show |
11 | 286 | 0.0385 | 18 | c.57- others(33): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ESS2_chr22_19125279_19149651 | 19136031 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0036 | a0001c0002t0002g0026 a0001c0002t0002g0082 a0001c0002t0036g0165 |
5 | 432 | 0.0116 | 18 | c.103 others(35): Show |
ESS2 | ENSG00000100056.12 | transcript | ENST00000252137.11 | protein_coding | 8/9 | chr22 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138501222 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 334 | 0.0030 | 18 | c.*70 others(29): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 4872 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02004.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0078 a0001c0001t0001g0158 |
3 | 334 | 0.0090 | 18 | c.732 others(33): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02083.hp2 HG02129.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0112 others(2): Show |
5 | 334 | 0.0150 | 18 | c.732 others(33): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETF1_chr5_138501095_138548236 | 138512225 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0023 |
2 | 334 | 0.0060 | 18 | c.732 others(33): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76252876 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 others(4): Show |
7 | 336 | 0.0208 | 18 | c.817 others(37): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 9/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76272813 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0259 | 1 | 336 | 0.0030 | 18 | c.816 others(35): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 9/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76295936 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG02027.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0272 a0002c0002t0004g0228 a0002c0002t0004g0229 others(5): Show |
8 | 336 | 0.0238 | 18 | c.40- others(31): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76310068 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01175.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 others(1): Show |
4 | 336 | 0.0119 | 18 | c.39+ others(33): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76311931 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 a0001c0001t0003g0106 a0001c0001t0003g0108 |
3 | 336 | 0.0089 | 18 | c.-54 others(27): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 463 | chr15 | TogoVar | |||||||
ETFA_chr15_76210353_76316469 | 76311932 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(49): Show |
52 | 336 | 0.1548 | 18 | c.-54 others(27): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 464 | chr15 | TogoVar |