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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DUSP14_chr17_37484891_37518498 | 37509267 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01070.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0344 a0001c0001t0002g0021 a0001c0001t0002g0022 others(16): Show |
21 | 421 | 0.0499 | -17 | c.-18 others(36): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37509269 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG02015.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0023 others(50): Show |
64 | 421 | 0.1520 | -17 | c.-18 others(36): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37509271 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00621.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0342 a0001c0001t0004g0001 a0001c0001t0004g0008 others(15): Show |
25 | 421 | 0.0594 | -17 | c.-18 others(36): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37509273 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 421 | 0.0024 | -17 | c.-18 others(36): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37509275 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 | 1 | 421 | 0.0024 | -17 | c.-18 others(36): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
DUSP15_chr20_31856077_31875527 | 31861504 | GCGGCACC others(10): Show |
G | frameshift_variant | HIGH | NA19068.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0132 | 1 | 378 | 0.0027 | -17 | c.590 others(24): Show |
p.Val others(5): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 7/7 | 796/1224 | 590/708 | 197/235 | chr20 | TogoVar | |||
DUSP15_chr20_31856077_31875527 | 31873816 | GGAAGGAA others(10): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 378 | 0.0027 | -17 | c.-34 others(28): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 3290 | chr20 | TogoVar | |||||||
DUSP15_chr20_31856077_31875527 | 31873820 | GGAAGAAA others(10): Show |
G | upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0048 | 1 | 378 | 0.0027 | -17 | c.-35 others(28): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 3294 | chr20 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57165313 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0397 a0001c0001t0002g0398 |
2 | 446 | 0.0045 | -17 | c.25+ others(32): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57169768 | GATATAAA others(10): Show |
G | upstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 446 | 0.0022 | -17 | c.-23 others(28): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 2284 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172071 | GGGGGCGC others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00733.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0155 others(29): Show |
33 | 446 | 0.0740 | -17 | c.-46 others(28): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4587 | chr19 | TogoVar | |||||||
DVL2_chr17_7220342_7239517 | 7221420 | CACTGCCC others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(124): Show |
297 | 406 | 0.7315 | -17 | c.*44 others(28): Show |
DVL2 | ENSG00000004975.12 | transcript | ENST00000005340.10 | protein_coding | 3921 | chr17 | TogoVar | |||||||
DVL3_chr3_184150377_184178614 | 184153304 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01358.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0122 |
2 | 400 | 0.0050 | -17 | c.-23 others(28): Show |
DVL3 | ENSG00000161202.20 | transcript | ENST00000313143.9 | protein_coding | 2072 | chr3 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49178889 | ATGTTTAA others(10): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0256 | 1 | 290 | 0.0035 | -17 | c.162 others(38): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49292592 | GAAAAAAA others(10): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 others(2): Show |
5 | 290 | 0.0172 | -17 | c.764 others(34): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 8/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49393149 | GAAGGAAG others(10): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0254 | 1 | 290 | 0.0035 | -17 | c.141 others(34): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 2/17 | chr18 | TogoVar | |||||||
DYNC1I2_chr2_171682469_171755158 | 171746109 | TTCTGTTT others(10): Show |
T | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0132 | 1 | 334 | 0.0030 | -17 | c.180 others(34): Show |
DYNC1I2 | ENSG00000077380.16 | transcript | ENST00000397119.8 | protein_coding | 17/17 | chr2 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32561002 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01169.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 a0001c0001t0005g0073 a0001c0001t0005g0074 |
3 | 336 | 0.0089 | -17 | c.220 others(34): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 2/12 | chr3 | TogoVar | |||||||
DYNC2H1_chr11_103104426_103484863 | 103441854 | ACTCATTT others(10): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02622.hp1 others(4): Show |
a0002a0007a0031 | a0002c0016a0007c0012a0031c0038 | a0002c0016t0001a0007c0012t0001a0031c0038t0001 | a0002c0016t0001g0257 a0007c0012t0001g0206 a0007c0012t0001g0209 others(4): Show |
7 | 262 | 0.0267 | -17 | c.124 others(38): Show |
DYNC2H1 | ENSG00000187240.17 | transcript | ENST00000375735.7 | protein_coding | 85/88 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158854617 | TGTACCCC others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 274 | 0.0037 | -17 | c.-21 others(28): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 1940 | chr7 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158858857 | CCCCTCCC others(10): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0023 | a0001c0023t0018 | a0001c0023t0018g0112 | 1 | 274 | 0.0037 | -17 | c.15+ others(32): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNLL1_chr12_120491113_120503493 | 120491339 | CTGCCAGC others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01099.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0005 others(1): Show |
36 | 408 | 0.0882 | -17 | c.-48 others(28): Show |
DYNLL1 | ENSG00000088986.11 | transcript | ENST00000242577.11 | protein_coding | 4773 | chr12 | TogoVar | |||||||
DYNLRB1_chr20_34511422_34545958 | 34532146 | AGTCACAT others(10): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 384 | 0.0026 | -17 | c.80- others(32): Show |
DYNLRB1 | ENSG00000125971.18 | transcript | ENST00000357156.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DYNLT5_chr1_66747459_66784047 | 66780968 | ACTGTTCT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0038 a0001c0001t0010g0156 |
3 | 402 | 0.0075 | -17 | c.*35 others(28): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 1922 | chr1 | TogoVar | |||||||
DYNLT5_chr1_66747459_66784047 | 66780984 | TGCTGTTC others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02486.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0016a0003c0003t0017 | a0001c0001t0016g0060 a0003c0003t0017g0069 |
2 | 402 | 0.0050 | -17 | c.*35 others(28): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 1938 | chr1 | TogoVar | |||||||
DZANK1_chr20_18378367_18472030 | 18407254 | AGCACACA others(10): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0207 | 1 | 374 | 0.0027 | -17 | c.150 others(36): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 13/20 | chr20 | TogoVar | |||||||
DZANK1_chr20_18378367_18472030 | 18438237 | AAAGAAAT others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0332 | 1 | 374 | 0.0027 | -17 | c.805 others(34): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 8/20 | chr20 | TogoVar | |||||||
DZIP1L_chr3_138056990_138120608 | 138108300 | GGGTAATA others(10): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 312 | 0.0032 | -17 | c.-81 others(34): Show |
DZIP1L | ENSG00000158163.15 | transcript | ENST00000327532.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
DZIP1_chr13_95573202_95649706 | 95645323 | TATATATA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0054 | 1 | 382 | 0.0026 | -17 | c.-14 others(28): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 618 | chr13 | TogoVar | |||||||
DZIP3_chr3_108584722_108699840 | 108657602 | TAACATCA others(10): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 318 | 0.0031 | -17 | c.219 others(36): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 19/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
E2F1_chr20_33670477_33691385 | 33678151 | CCCTGCCT others(10): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 382 | 0.0026 | -17 | c.725 others(30): Show |
E2F1 | ENSG00000101412.13 | transcript | ENST00000343380.6 | protein_coding | 4/6 | chr20 | TogoVar | |||||||
E2F2_chr1_23501438_23536233 | 23520243 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(143): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(16): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0003g0309 others(118): Show |
146 | 396 | 0.3687 | -17 | c.737 others(32): Show |
E2F2 | ENSG00000007968.7 | transcript | ENST00000361729.3 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
E2F3_chr6_20396879_20498714 | 20462859 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03579.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0004g0320 others(1): Show |
4 | 336 | 0.0119 | -17 | c.394 others(36): Show |
E2F3 | ENSG00000112242.16 | transcript | ENST00000346618.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EAF2_chr3_121830209_121891526 | 121841504 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG01978.hp1 HG01981.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 a0001c0002t0001g0072 a0001c0002t0001g0073 others(3): Show |
7 | 318 | 0.0220 | -17 | c.107 others(34): Show |
EAF2 | ENSG00000145088.9 | transcript | ENST00000273668.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EAPP_chr14_34510938_34544701 | 34543521 | CGCCTCCT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 360 | 0.0028 | -17 | c.-39 others(28): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 3821 | chr14 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 159099919 | GAAAAAAA others(10): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0096 | 1 | 196 | 0.0051 | -17 | c.-45 others(26): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 4 | chr5 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25866433 | TTATATAT others(10): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0036 | a0001c0001t0003g0200 a0001c0001t0019g0009 a0001c0001t0036g0159 |
3 | 220 | 0.0136 | -17 | c.101 others(36): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
ECE2_chr3_184271022_184298031 | 184296561 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp1 NA19002.hp1 NA19078.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0138 |
3 | 398 | 0.0075 | -17 | c.*43 others(28): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 3531 | chr3 | TogoVar | |||||||
ECHDC1_chr6_127283712_127348609 | 127309479 | AAACACAC others(10): Show |
A | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 358 | 0.0028 | -17 | c.497 others(34): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
ECHDC1_chr6_127283712_127348609 | 127338664 | ATCCTACA others(10): Show |
A | intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 358 | 0.0028 | -17 | c.-3+ others(32): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
ECHDC3_chr10_11737382_11769070 | 11749773 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02015.hp1 HG03490.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(6): Show |
11 | 420 | 0.0262 | -17 | c.390 others(32): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236397004 | AGAGAGAT others(10): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 HG03471.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0007a0002c0002t0014others(1): Show | a0002c0002t0006g0239 a0002c0002t0007g0224 a0002c0002t0007g0240 others(2): Show |
5 | 294 | 0.0170 | -17 | c.61+ others(32): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236402081 | CTTCCTGA others(10): Show |
C | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 294 | 0.0034 | -17 | c.62- others(32): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405773 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00741.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0172 a0001c0001t0001g0184 a0001c0001t0001g0201 others(16): Show |
19 | 294 | 0.0646 | -17 | c.62- others(32): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405783 | TTCTTTCT others(10): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0232 | 1 | 294 | 0.0034 | -17 | c.62- others(32): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDAR_chr2_108889471_108994220 | 108977758 | AGGCCTCA others(10): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0018 | 1 | 226 | 0.0044 | -17 | c.-19 others(36): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69810257 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0065 others(51): Show |
54 | 226 | 0.2389 | -17 | c.397 others(38): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69978318 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG03654.hp1 NA19066.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0084 a0001c0001t0001g0090 |
3 | 226 | 0.0133 | -17 | c.502 others(36): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDEM2_chr20_35110364_35152336 | 35141119 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18940.hp1 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0112 |
2 | 332 | 0.0060 | -17 | c.364 others(34): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
EEA1_chr12_92765637_92934295 | 92869752 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01975.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0052a0001c0002t0007 | a0001c0001t0001g0079 a0001c0001t0052g0080 a0001c0002t0007g0137 |
3 | 244 | 0.0123 | -17 | c.118 others(34): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar |