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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DTD1_chr20_18583054_18771644 | 18638203 | CCATCCAT others(17): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03225.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062a0001c0001t0002g0066a0001c0001t0002g0107 | 3 | 398 | 0.0075 | -24 | c.477 others(41): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTL_chr1_212030748_212110013 | 212051442 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0140a0001c0001t0007g0330 | 2 | 364 | 0.0055 | -24 | c.460 others(41): Show |
DTL | ENSG00000143476.18 | transcript | ENST00000366991.5 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DTNBP1_chr6_15517807_15668028 | 15585064 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 314 | 0.0032 | -24 | c.511 others(41): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25420467 | AATCTATC others(17): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG02109.hp2 others(6): Show |
a0001a0004a0005 | a0001c0002a0004c0004a0005c0005 | a0001c0002t0001a0004c0004t0001a0005c0005t0001 | a0001c0002t0001g0019a0001c0002t0001g0074a0001c0002t0001g0106others(6): Show | 9 | 168 | 0.0536 | -24 | c.155 others(41): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 15/20 | chr2 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25420504 | ATCTATCT others(17): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0084a0001c0001t0001g0090a0001c0001t0001g0104others(10): Show | 13 | 168 | 0.0774 | -24 | c.155 others(41): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 15/20 | chr2 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25609657 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 168 | 0.0060 | -24 | c.363 others(41): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 4/20 | chr2 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76498811 | GGGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 280 | 0.0036 | -24 | c.115 others(43): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DUOX1_chr15_45124994_45170574 | 45153494 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0010 | a0010c0045 | a0010c0045t0006 | a0010c0045t0006g0348 | 1 | 386 | 0.0026 | -24 | c.352 others(39): Show |
DUOX1 | ENSG00000137857.18 | transcript | ENST00000389037.7 | protein_coding | 26/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DUOX1_chr15_45124994_45170574 | 45153524 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(53): Show |
a0002a0006a0013 | a0002c0002a0002c0006a0006c0012others(1): Show | a0002c0002t0005a0002c0006t0005a0006c0012t0005others(1): Show | a0002c0002t0005g0001a0002c0002t0005g0003a0002c0002t0005g0008others(43): Show | 56 | 386 | 0.1451 | -24 | c.352 others(39): Show |
DUOX1 | ENSG00000137857.18 | transcript | ENST00000389037.7 | protein_coding | 26/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DUS2_chr16_68018284_68084320 | 68020857 | ATATATAT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 234 | 0.0043 | -24 | c.-25 others(35): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2426 | chr16 | TogoVar | ||||||
DUS3L_chr19_5780140_5796163 | 5796129 | GTCTTCTT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0034 | 1 | 364 | 0.0028 | -24 | c.-50 others(35): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4967 | chr19 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37509243 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 421 | 0.0024 | -24 | c.-18 others(43): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DUSP15_chr20_31856077_31875527 | 31873813 | GAAGGAAG others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01071.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001a0002c0002t0002 | a0001c0003t0001g0057a0002c0002t0001g0004a0002c0002t0001g0035others(1): Show | 6 | 378 | 0.0159 | -24 | c.-35 others(35): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 3287 | chr20 | TogoVar | ||||||
DUSP15_chr20_31856077_31875527 | 31873817 | GAAGGAAG others(17): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG06807.hp1 NA21309.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036a0002c0002t0001g0096 | 3 | 378 | 0.0079 | -24 | c.-35 others(35): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 3291 | chr20 | TogoVar | ||||||
DUSP15_chr20_31856077_31875527 | 31873821 | GAAGAAAG others(17): Show |
G | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | -24 | c.-35 others(35): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 3295 | chr20 | TogoVar | ||||||
DUSP22_chr6_287487_356355 | 309695 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0182a0001c0001t0006g0183a0001c0001t0006g0184others(1): Show | 4 | 221 | 0.0181 | -24 | c.56- others(39): Show |
DUSP22 | ENSG00000112679.15 | transcript | ENST00000419235.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DUSP28_chr2_240555357_240570256 | 240560857 | CGCGCGCG others(17): Show |
C | disruptive_inframe_deletion | MODERATE | HG00738.hp2 HG01099.hp2 |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0001 | 2 | 422 | 0.0047 | -24 | c.179 others(31): Show |
p.Ala others(11): Show |
DUSP28 | ENSG00000188542.10 | transcript | ENST00000405954.2 | protein_coding | 1/2 | 507/4648 | 179/531 | 60/176 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
DUSP29_chr10_75032472_75078642 | 75066755 | CAGTGGCA others(17): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 368 | 0.0027 | -24 | c.-35 others(41): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
DUSP29_chr10_75032472_75078642 | 75070070 | AAAGGAAG others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(44): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0016others(27): Show | 47 | 368 | 0.1277 | -24 | c.-35 others(41): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
DUSP29_chr10_75032472_75078642 | 75074301 | AAAAAAAA others(17): Show |
A | upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 368 | 0.0027 | -24 | c.-79 others(33): Show |
DUSP29 | ENSG00000188716.6 | transcript | ENST00000338487.6 | protein_coding | 660 | chr10 | TogoVar | ||||||
DUSP5_chr10_110492907_110516533 | 110514454 | ATTTTTTT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(61): Show | 229 | 410 | 0.5585 | -24 | c.*40 others(35): Show |
DUSP5 | ENSG00000138166.6 | transcript | ENST00000369583.4 | protein_coding | 2922 | chr10 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49097874 | GCTCTCTC others(17): Show |
G | intron_variant | MODIFIER | NA18979.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0057 | 2 | 290 | 0.0069 | -24 | c.191 others(41): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 16/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49258839 | CAGAGAGA others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01168.hp2 HG01255.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0226a0001c0001t0003g0228a0001c0001t0003g0229others(11): Show | 14 | 290 | 0.0483 | -24 | c.125 others(41): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 11/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49393091 | GGGAAGGA others(17): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(72): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0187a0001c0001t0001g0219a0001c0001t0001g0249others(72): Show | 75 | 290 | 0.2586 | -24 | c.141 others(41): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 2/17 | chr18 | TogoVar | ||||||
DYNAP_chr18_54586245_54604493 | 54600081 | GAGATATA others(17): Show |
G | downstream_gene_variant | MODIFIER | HG03688.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0038 | 2 | 358 | 0.0056 | -24 | c.*19 others(35): Show |
DYNAP | ENSG00000178690.4 | transcript | ENST00000648945.2 | protein_coding | 589 | chr18 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95785775 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0043a0001c0001t0001g0052a0001c0004t0001g0053others(1): Show | 4 | 230 | 0.0174 | -24 | c.-10 others(43): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DYNC2H1_chr11_103104426_103484863 | 103425733 | CTCTCACT others(17): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(174): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0005a0001c0006others(50): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(54): Show | a0001c0001t0001g0101a0001c0001t0001g0108a0001c0001t0001g0122others(174): Show | 177 | 262 | 0.6756 | -24 | c.123 others(47): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 84/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37457029 | CTTACTTA others(17): Show |
C | intron_variant | MODIFIER | HG00609.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0070 | 2 | 350 | 0.0057 | -24 | c.11- others(41): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37479589 | GTTTTGTT others(17): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0318 | 1 | 350 | 0.0029 | -24 | c.301 others(41): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DZANK1_chr20_18378367_18472030 | 18409152 | CAAAAATT others(17): Show |
C | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 374 | 0.0027 | -24 | c.150 others(43): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 13/20 | chr20 | TogoVar | ||||||
DZIP3_chr3_108584722_108699840 | 108619280 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 318 | 0.0031 | -24 | c.375 others(41): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
E2F2_chr1_23501438_23536233 | 23513562 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0276 | 1 | 396 | 0.0025 | -24 | c.104 others(43): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
E2F5_chr8_85172154_85219518 | 85180511 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0282 | 1 | 336 | 0.0030 | -24 | c.234 others(41): Show |
E2F5 | ENSG00000133740.11 | transcript | ENST00000416274.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EAF2_chr3_121830209_121891526 | 121841520 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0091others(5): Show | 10 | 318 | 0.0315 | -24 | c.107 others(41): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EBAG9_chr8_109535173_109570996 | 109538093 | AGGCTGGA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031a0001c0001t0005g0052a0001c0001t0005g0053 | 4 | 356 | 0.0112 | -24 | c.-23 others(35): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 2079 | chr8 | TogoVar | ||||||
EBF1_chr5_158690920_159104916 | 158866833 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG01070.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0002g0155a0001c0001t0004g0091a0001c0001t0004g0092others(6): Show | 9 | 196 | 0.0459 | -24 | c.555 others(43): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 25838221 | CTCTCTCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 220 | 0.0046 | -24 | c.*63 others(35): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3503 | chr8 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129880396 | TACACATG others(17): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0212 | 1 | 338 | 0.0030 | -24 | c.555 others(41): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBF3_chr10_129830233_129969274 | 129945084 | GAGAGGAG others(17): Show |
G | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0336 | 1 | 338 | 0.0030 | -24 | c.554 others(43): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4232745 | GATGAATT others(17): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(129): Show | 204 | 438 | 0.4658 | -24 | c.201 others(39): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EBNA1BP2_chr1_43159184_43177290 | 43172563 | GGGGGAGG others(17): Show |
G | upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 392 | 0.0026 | -24 | c.-46 others(33): Show |
EBNA1BP2 | ENSG00000117395.13 | transcript | ENST00000236051.3 | protein_coding | 274 | chr1 | TogoVar | ||||||
EBNA1BP2_chr1_43159184_43177290 | 43172606 | GGACAAGG others(17): Show |
G | upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -24 | c.-51 others(33): Show |
EBNA1BP2 | ENSG00000117395.13 | transcript | ENST00000236051.3 | protein_coding | 317 | chr1 | TogoVar | ||||||
ECE1_chr1_21212250_21295463 | 21290550 | AGACCCCA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 304 | 0.0033 | -24 | c.-16 others(33): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 88 | chr1 | TogoVar | ||||||
ECE2_chr3_184271022_184298031 | 184274718 | TGAAAGAA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0020 | 2 | 398 | 0.0050 | -24 | c.-14 others(35): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1303 | chr3 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127287582 | CGATCGAT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 | 1 | 358 | 0.0028 | -24 | c.*22 others(35): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1129 | chr6 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127309480 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0011a0001c0001t0002g0033a0001c0001t0002g0034others(30): Show | 37 | 358 | 0.1034 | -24 | c.497 others(41): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
ECHS1_chr10_133357485_133378354 | 133373698 | CGCCCGCC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG02055.hp1 HG02071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0092a0001c0001t0001g0093others(1): Show | 4 | 354 | 0.0113 | -24 | c.-38 others(33): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 345 | chr10 | TogoVar | ||||||
ECI2_chr6_4110706_4140575 | 4138944 | ACGATTCT others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 370 | 0.0027 | -24 | c.-34 others(35): Show |
ECI2 | ENSG00000198721.13 | transcript | ENST00000380118.8 | protein_coding | 3370 | chr6 | TogoVar | ||||||
ECM1_chr1_150503109_150518789 | 150503633 | GTGTGTGT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 420 | 0.0048 | -24 | c.-45 others(35): Show |
ECM1 | ENSG00000143369.15 | transcript | ENST00000369047.9 | protein_coding | 4475 | chr1 | TogoVar | ||||||
ECSCR_chr5_139443560_139467743 | 139446461 | TTCCTTTT others(17): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0123 | 2 | 369 | 0.0054 | -24 | c.*24 others(35): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 2098 | chr5 | TogoVar |