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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ESRP1_chr8_94636174_94712466 | 94668788 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(21): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001a0001c0003t0001g0088a0001c0003t0001g0134others(20): Show | 24 | 374 | 0.0642 | 8 | c.123 others(25): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94681325 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02055.hp1 HG02074.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0143a0001c0001t0001g0159a0001c0001t0001g0165others(5): Show | 8 | 374 | 0.0214 | 8 | c.182 others(27): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94682904 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0206others(4): Show | 7 | 374 | 0.0187 | 8 | c.182 others(27): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94709403 | C | CTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(100): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0087a0001c0001t0001g0103others(100): Show | 103 | 374 | 0.2754 | 8 | c.*35 others(19): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 1938 | chr8 | TogoVar | ||||||
ESRRB_chr14_76371137_76506837 | 76414668 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02683.hp2 HG03540.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0052a0001c0001t0001g0105a0001c0001t0001g0132others(7): Show | 10 | 318 | 0.0315 | 8 | c.51- others(25): 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(1): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18977.hp2 NA18999.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0057a0001c0001t0002g0260a0001c0001t0002g0262others(2): Show | 5 | 318 | 0.0157 | 8 | c.51- others(25): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76440547 | A | ACCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01099.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0165a0001c0001t0001g0254a0001c0001t0006g0137others(9): Show | 13 | 318 | 0.0409 | 8 | c.460 others(23): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76447243 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01106.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0052a0001c0001t0001g0073a0001c0001t0001g0087others(24): Show | 27 | 318 | 0.0849 | 8 | c.460 others(25): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76456038 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 NA19057.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0036 | a0001c0001t0010g0250a0001c0001t0011g0251a0001c0001t0036g0172 | 3 | 318 | 0.0094 | 8 | c.461 others(25): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRB_chr14_76371137_76506837 | 76485626 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02015.hp2 HG02886.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0112a0001c0001t0001g0286a0001c0001t0002g0030others(10): Show | 13 | 318 | 0.0409 | 8 | c.850 others(25): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0078a0001c0001t0001g0105a0001c0001t0001g0106others(49): Show | 52 | 318 | 0.1635 | 8 | c.851 others(25): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ESRRG_chr1_216498251_216728429 | 216514959 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02109.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0011a0001c0001t0018others(1): Show | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0181others(3): Show | 6 | 286 | 0.0210 | 8 | c.113 others(27): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216530304 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0005g0187a0001c0001t0006g0117a0001c0001t0010g0086others(4): Show | 7 | 286 | 0.0245 | 8 | c.863 others(27): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216530318 | C | CTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0045a0001c0001t0001g0067a0001c0001t0001g0095others(67): Show | 70 | 286 | 0.2448 | 8 | c.863 others(27): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216569081 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01192.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0004t0005others(1): Show | a0001c0001t0001g0116a0001c0001t0001g0245a0001c0001t0003g0125others(4): Show | 7 | 286 | 0.0245 | 8 | c.590 others(23): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216581635 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02280.hp1 others(12): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0003t0004others(2): Show | a0001c0002t0002g0029a0001c0002t0002g0031a0001c0002t0002g0250others(12): Show | 15 | 286 | 0.0525 | 8 | c.590 others(27): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216589903 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG02083.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0001g0279a0001c0001t0001g0280a0001c0001t0003g0081others(17): Show | 20 | 286 | 0.0699 | 8 | c.590 others(27): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216625423 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0067others(32): Show | 35 | 286 | 0.1224 | 8 | c.589 others(27): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216687026 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18522.hp1 NA18967.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0171a0001c0001t0001g0186a0001c0001t0005g0022others(3): Show | 6 | 286 | 0.0210 | 8 | c.57- others(23): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216687045 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18906.hp2 NA18959.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0002 | a0001c0001t0003g0259a0001c0001t0005g0187a0001c0002t0002g0175 | 3 | 286 | 0.0105 | 8 | c.57- others(23): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216709343 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0004others(1): Show | a0001c0001t0001g0235a0001c0002t0002g0229a0001c0002t0002g0236others(4): Show | 7 | 286 | 0.0245 | 8 | c.56+ others(25): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158738312 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(45): Show |
a0002a0003a0008 | a0002c0004a0002c0009a0002c0020others(3): Show | a0002c0004t0003a0002c0009t0003a0002c0020t0003others(8): Show | a0002c0004t0003g0196a0002c0004t0003g0197a0002c0004t0003g0198others(45): Show | 48 | 370 | 0.1297 | 8 | c.226 others(25): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 19/22 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158746229 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 NA18906.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0268a0002c0002t0002g0295a0002c0002t0002g0320others(1): Show | 4 | 370 | 0.0108 | 8 | c.164 others(27): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 16/22 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158785426 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18989.hp1 NA19056.hp1 |
a0002a0003 | a0002c0004a0003c0003 | a0002c0004t0001a0003c0003t0012 | a0002c0004t0001g0205a0002c0004t0001g0212a0003c0003t0012g0321 | 3 | 370 | 0.0081 | 8 | c.747 others(25): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 6/22 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158785471 | A | AAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02074.hp1 HG02129.hp1 others(12): Show |
a0002 | a0002c0004a0002c0009 | a0002c0004t0001a0002c0004t0003a0002c0009t0003 | a0002c0004t0001g0215a0002c0004t0003g0196a0002c0004t0003g0197others(12): Show | 15 | 370 | 0.0405 | 8 | c.747 others(25): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 6/22 | chr7 | TogoVar | ||||||
ESYT2_chr7_158725997_158834509 | 158809474 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp2 HG01255.hp1 others(10): Show |
a0003a0004a0008 | a0003c0003a0004c0005a0008c0015 | a0003c0003t0004a0003c0003t0026a0004c0005t0001others(1): Show | a0003c0003t0004g0015a0003c0003t0004g0016a0003c0003t0004g0017others(10): Show | 13 | 370 | 0.0351 | 8 | c.331 others(27): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
ESYT3_chr3_138429616_138484925 | 138443736 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02257.hp2 HG02615.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0004a0001c0005t0007a0002c0002t0001others(3): Show | a0001c0001t0004g0086a0001c0005t0007g0085a0002c0002t0001g0022others(3): Show | 7 | 338 | 0.0207 | 8 | c.328 others(25): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ETAA1_chr2_67392333_67417089 | 67395984 | T | TAACTTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(272): Show |
a0001a0003a0004others(12): Show | a0001c0001a0001c0017a0001c0024others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(78): Show | 275 | 394 | 0.6980 | 8 | c.-14 others(19): Show |
ETAA1 | ENSG00000143971.9 | transcript | ENST00000272342.6 | protein_coding | 1348 | chr2 | TogoVar | ||||||
ETDC_chrX_135304480_135314659 | 135306288 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 2 | 311 | 0.0064 | 8 | c.-31 others(19): Show |
ETDC | ENSG00000283644.1 | transcript | ENST00000635820.1 | protein_coding | 3191 | chrX | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76252876 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00639.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(65): Show | 69 | 336 | 0.2054 | 8 | c.817 others(27): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 9/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76258170 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0019others(9): Show | 12 | 336 | 0.0357 | 8 | c.816 others(27): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 9/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76272813 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00741.hp2 others(25): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0117a0001c0001t0002g0122a0001c0001t0002g0123others(25): Show | 28 | 336 | 0.0833 | 8 | c.816 others(25): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 9/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76288920 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01106.hp1 HG01175.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(11): Show | 14 | 336 | 0.0417 | 8 | c.352 others(23): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 4/11 | chr15 | TogoVar | ||||||
ETFA_chr15_76210353_76316469 | 76306267 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0324a0001c0001t0003g0325a0001c0001t0003g0326others(5): Show | 8 | 336 | 0.0238 | 8 | c.39+ others(23): Show |
ETFA | ENSG00000140374.17 | transcript | ENST00000557943.6 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
ETFDH_chr4_158667296_158714623 | 158689636 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG02027.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0015a0002c0002t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0169others(4): Show | 7 | 298 | 0.0235 | 8 | c.607 others(23): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ETFDH_chr4_158667296_158714623 | 158690879 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03516.hp2 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0013 | a0002c0002t0009g0004a0002c0002t0013g0027 | 3 | 298 | 0.0101 | 8 | c.684 others(23): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ETFDH_chr4_158667296_158714623 | 158709019 | T | TTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG02027.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0031others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0018a0001c0001t0003g0021others(27): Show | 32 | 298 | 0.1074 | 8 | c.*52 others(17): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 13/13 | 532 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ETHE1_chr19_43501719_43532201 | 43503280 | G | GTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG02559.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0141a0001c0002t0001g0011a0001c0002t0001g0013others(16): Show | 22 | 408 | 0.0539 | 8 | c.*35 others(19): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3438 | chr19 | TogoVar | ||||||
ETHE1_chr19_43501719_43532201 | 43518999 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01081.hp2 HG01099.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0028others(8): Show | 17 | 408 | 0.0417 | 8 | c.375 others(25): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ETNK2_chr1_204126062_204157044 | 204140282 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02300.hp1 HG03669.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0129a0001c0001t0001g0132others(2): Show | 5 | 422 | 0.0119 | 8 | c.785 others(23): Show |
ETNK2 | ENSG00000143845.15 | transcript | ENST00000367202.9 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
ETNK2_chr1_204126062_204157044 | 204156336 | T | TCAGACAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01069.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0029others(31): Show | 36 | 422 | 0.0853 | 8 | c.-44 others(19): Show |
ETNK2 | ENSG00000143845.15 | transcript | ENST00000367202.9 | protein_coding | 4293 | chr1 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108750495 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02083.hp1 HG02257.hp2 others(10): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0004t0002 | a0002c0002t0001g0272a0002c0002t0001g0293a0002c0002t0001g0301others(10): Show | 13 | 378 | 0.0344 | 8 | c.701 others(23): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108753749 | T | TAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01123.hp1 HG01168.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0031others(15): Show | 22 | 378 | 0.0582 | 8 | c.502 others(23): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108755821 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02717.hp2 HG02895.hp2 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0296a0001c0001t0001g0297a0001c0001t0001g0298others(6): Show | 9 | 378 | 0.0238 | 8 | c.410 others(23): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 4/12 | chr4 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108766206 | T | TCCTGATC others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296a0001c0001t0001g0297a0001c0001t0001g0298others(1): Show | 4 | 378 | 0.0106 | 8 | c.-33 others(19): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 3154 | chr4 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128475882 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(62): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(14): Show | a0001c0001t0001g0261a0001c0001t0004g0042a0001c0001t0004g0137others(62): Show | 65 | 286 | 0.2273 | 8 | c.112 others(27): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 8/9 | chr11 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128478451 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01243.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0036a0001c0001t0001g0054others(24): Show | 28 | 286 | 0.0979 | 8 | c.112 others(27): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 8/9 | chr11 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128558629 | T | TGACAGAG others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02071.hp1 NA18970.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0194a0001c0001t0001g0226a0001c0001t0002g0001others(5): Show | 9 | 286 | 0.0315 | 8 | c.70- others(23): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128565029 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02922.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0001t0018a0001c0002t0001others(4): Show | a0001c0001t0004g0051a0001c0001t0004g0075a0001c0001t0004g0251others(9): Show | 12 | 286 | 0.0420 | 8 | c.69+ others(23): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128569318 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02896.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0002t0004others(2): Show | a0001c0001t0004g0027a0001c0001t0004g0030a0001c0001t0006g0031others(7): Show | 10 | 286 | 0.0350 | 8 | c.69+ others(23): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 2/9 | chr11 | TogoVar |