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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPEP1_chr16_89608642_89643433 | 89619427 | G | GCCCCCCT others(24): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 250 | 0.0040 | 31 | c.-10 others(50): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89619515 | C | CTGCCCCC others(24): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01123.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0057a0001c0001t0001g0217a0001c0001t0001g0218others(4): Show | 7 | 250 | 0.0280 | 31 | c.-10 others(50): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89631874 | G | GGGAGCAG others(24): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 250 | 0.0040 | 31 | c.104 others(48): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634637 | C | CCCTTTCC others(24): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18612.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0148a0002c0002t0004g0149 | 2 | 250 | 0.0080 | 31 | c.105 others(48): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89634737 | C | CCCCTTCC others(24): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 250 | 0.0040 | 31 | c.105 others(48): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89635051 | T | TCCTTTCC others(24): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02083.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0108a0001c0001t0001g0124 | 3 | 250 | 0.0120 | 31 | c.105 others(46): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89635083 | T | TCCTTTCC others(24): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 250 | 0.0040 | 31 | c.105 others(46): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89635124 | T | TTCCTTCT others(24): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 250 | 0.0040 | 31 | c.105 others(46): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89635219 | C | CCCTCCTT others(24): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 250 | 0.0040 | 31 | c.105 others(46): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DPF3_chr14_72604034_72899101 | 72756928 | A | AAGAAAGA others(24): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0202 | 1 | 234 | 0.0043 | 31 | c.194 others(48): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 2/10 | chr14 | TogoVar | ||||||
DPF3_chr14_72604034_72899101 | 72838905 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 234 | 0.0043 | 31 | c.32+ others(48): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
DPH1_chr17_2025153_2048898 | 2034761 | C | CCTCCCCT others(24): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(119): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(68): Show | 122 | 392 | 0.3112 | 31 | c.278 others(46): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 228 | 0.0044 | 31 | c.312 others(50): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 228 | 0.0044 | 31 | c.312 others(50): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
DPM1_chr20_50929870_50963532 | 50941323 | T | TATATTCA others(24): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 380 | 0.0053 | 31 | c.495 others(46): Show |
DPM1 | ENSG00000000419.14 | transcript | ENST00000371588.10 | protein_coding | 6/8 | chr20 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 115334230 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0054 | 1 | 56 | 0.0179 | 31 | c.176 others(48): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPRX_chr19_53626999_53642014 | 53641077 | T | TCCCCCCC others(24): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 478 | 0.0021 | 31 | c.*40 others(42): Show |
DPRX | ENSG00000204595.3 | transcript | ENST00000376650.2 | protein_coding | 4064 | chr19 | TogoVar | ||||||
DPY19L1_chr7_34923881_35042485 | 35017501 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 328 | 0.0031 | 31 | c.411 others(46): Show |
DPY19L1 | ENSG00000173852.16 | transcript | ENST00000638088.2 | protein_coding | 3/21 | chr7 | TogoVar | ||||||
DPY19L1_chr7_34923881_35042485 | 35027668 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0229 | 1 | 328 | 0.0031 | 31 | c.299 others(48): Show |
DPY19L1 | ENSG00000173852.16 | transcript | ENST00000638088.2 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
DPY19L2_chr12_63553913_63673493 | 63592006 | G | GAGGGGAG others(24): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01169.hp1 others(13): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0004a0004c0008others(1): Show | a0002c0002t0004a0003c0004t0003a0004c0008t0008others(1): Show | a0002c0002t0004g0017a0002c0002t0004g0018a0002c0002t0004g0019others(13): Show | 16 | 362 | 0.0442 | 31 | c.158 others(50): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 16/21 | chr12 | TogoVar | ||||||
DPY19L2_chr12_63553913_63673493 | 63592016 | G | GAGGGGAG others(24): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0100 | 1 | 362 | 0.0028 | 31 | c.158 others(50): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 16/21 | chr12 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26567285 | C | CCATCCAT others(24): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(104): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0072a0001c0001t0002g0104a0001c0001t0002g0114others(104): Show | 107 | 316 | 0.3386 | 31 | c.355 others(50): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DPYSL4_chr10_132181948_132210759 | 132205982 | G | GGCCCCCC others(24): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0042 | 1 | 418 | 0.0024 | 31 | c.*10 others(42): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 224 | chr10 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAATATAT others(24): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 | 1 | 322 | 0.0031 | 31 | c.342 others(48): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31421898 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01981.hp1 HG02145.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0002t0001a0001c0003t0002others(3): Show | a0001c0001t0005g0315a0001c0002t0001g0038a0001c0002t0001g0040others(16): Show | 19 | 322 | 0.0590 | 31 | c.342 others(48): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117687426 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG03041.hp1 |
a0001a0002 | a0001c0015a0002c0002a0002c0003 | a0001c0015t0005a0002c0002t0001a0002c0003t0002 | a0001c0015t0005g0008a0002c0002t0001g0056a0002c0003t0002g0191 | 3 | 194 | 0.0155 | 31 | c.511 others(50): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSE_chr6_116365947_116449861 | 116410764 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085a0001c0001t0002g0119 | 2 | 366 | 0.0055 | 31 | c.416 others(50): Show |
DSE | ENSG00000111817.19 | transcript | ENST00000644252.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DSTN_chr20_17565075_17614919 | 17583735 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0274 | 1 | 348 | 0.0029 | 31 | c.3+1 others(46): Show |
DSTN | ENSG00000125868.16 | transcript | ENST00000246069.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DUXA_chr19_57149021_57172485 | 57165324 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 446 | 0.0022 | 31 | c.25+ others(46): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49206003 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0241a0001c0001t0011g0242a0001c0001t0011g0244 | 3 | 290 | 0.0103 | 31 | c.162 others(50): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49317597 | C | CTCTCTCT others(24): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 290 | 0.0035 | 31 | c.763 others(50): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49317646 | C | CTCCTCTC others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 290 | 0.0035 | 31 | c.763 others(50): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49441175 | T | TTATATAT others(24): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0286 | 1 | 290 | 0.0035 | 31 | c.-53 others(50): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 101998887 | T | TTTGTTTT others(24): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02809.hp1 |
a0001 | a0001c0023a0001c0024 | a0001c0023t0021a0001c0024t0022 | a0001c0023t0021g0240a0001c0024t0022g0239 | 2 | 280 | 0.0071 | 31 | c.380 others(50): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 16/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DYNC1LI1_chr3_32520974_32575858 | 32532480 | A | ATGTGTAT others(24): Show |
intron_variant | MODIFIER | HG01361.hp2 NA18951.hp2 NA18954.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0012a0001c0001t0001g0311a0001c0001t0004g0057 | 4 | 336 | 0.0119 | 31 | c.108 others(48): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 31 | c.*75 others(40): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 31 | c.*75 others(40): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636070 | T | TATATATA others(24): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 31 | c.*75 others(40): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 403 | chr6 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37363299 | A | AAAAAAAG others(24): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 350 | 0.0029 | 31 | c.-44 others(42): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 3473 | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37440130 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | NA18943.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0007a0001c0001t0037g0248 | 2 | 350 | 0.0057 | 31 | c.10+ others(48): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71560417 | G | GCCCCAGC others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG03471.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0011a0001c0013others(4): Show | a0001c0003t0001a0001c0011t0001a0001c0013t0001others(4): Show | a0001c0003t0001g0066a0001c0003t0001g0076a0001c0011t0001g0171others(6): Show | 9 | 192 | 0.0469 | 31 | c.216 others(50): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 22/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71560417 | G | GCCCCAGC others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG02523.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0008a0001c0009others(5): Show | a0001c0003t0001a0001c0008t0001a0001c0008t0002others(6): Show | a0001c0003t0001g0114a0001c0003t0001g0127a0001c0008t0001g0109others(9): Show | 12 | 208 | 0.0577 | 31 | c.221 others(50): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 22/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECEL1_chr2_232474827_232492834 | 232483611 | A | AAGCCCAA others(24): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0088 | 1 | 438 | 0.0023 | 31 | c.140 others(47): Show |
ECEL1 | ENSG00000171551.12 | transcript | ENST00000304546.6 | protein_coding | 7/17 | chr2 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAAATAT others(24): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 400 | 0.0025 | 31 | c.-28 others(48): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111468705 | T | TGTGTGTG others(24): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0277 | 1 | 354 | 0.0028 | 31 | c.22+ others(46): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405874 | C | CTTCCTTC others(24): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 294 | 0.0034 | 31 | c.62- others(46): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236405874 | C | CTTCTTCT others(24): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0007 | 1 | 294 | 0.0034 | 31 | c.62- others(46): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDC3_chr15_74625558_74701024 | 74668763 | A | AAAGAAAG others(24): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 286 | 0.0035 | 31 | c.484 others(48): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84262659 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 158 | 0.0063 | 31 | c.68- others(46): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147547956 | C | CCGCCATA others(24): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0204 | 1 | 280 | 0.0036 | 31 | c.*53 others(42): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 3003 | chr4 | TogoVar |