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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRY1_chr12_106986364_107098549 | 107069612 | AAAAAGTA others(22): Show |
A | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 318 | 0.0031 | -29 | c.158 others(48): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74725584 | CATAGCCA others(22): Show |
C | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 370 | 0.0027 | -29 | c.-13 others(44): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1281027 | CCTCCTCC others(22): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 157 | 0.0064 | -29 | c.-26 others(46): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3083636 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 125 | 0.0080 | -29 | c.747 others(48): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3660480 | CTTTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02280.hp2 others(3): Show |
a0001a0004a0007others(1): Show | a0001c0017a0001c0046a0001c0115others(3): Show | a0001c0017t0005a0001c0046t0073a0001c0115t0042others(3): Show | a0001c0017t0005g0003 a0001c0046t0073g0091 a0001c0115t0042g0055 others(3): Show |
6 | 35 | 0.1714 | -29 | c.101 others(50): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3937521 | TACATGTT others(22): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0043 | a0001c0043t0031 | a0001c0043t0031g0044 | 1 | 126 | 0.0079 | -29 | c.818 others(48): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33510175 | GGAGACCG others(22): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02647.hp2 |
a0003a0015 | a0003c0004a0015c0023 | a0003c0004t0003a0015c0023t0003 | a0003c0004t0003g0054 a0003c0004t0003g0055 a0015c0023t0003g0039 |
3 | 64 | 0.0469 | -29 | c.*64 others(40): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3822 | chr1 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542663 | TATATATA others(22): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0115 | 1 | 388 | 0.0026 | -29 | c.230 others(46): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64277749 | TTAATAAT others(22): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG03927.hp1 NA18949.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0004g0129 others(4): Show |
7 | 169 | 0.0414 | -29 | c.182 others(48): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
CSNK2A1_chr20_467498_548790 | 485088 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0302 | 1 | 314 | 0.0032 | -29 | c.106 others(48): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
CSNK2A1_chr20_467498_548790 | 485090 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0309 | 1 | 300 | 0.0033 | -29 | c.106 others(48): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
CSNKA2IP_chr3_88333456_88472594 | 88435873 | ATGTGCAT others(22): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(66): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0121 a0001c0001t0001g0201 others(62): Show |
69 | 287 | 0.2404 | -29 | c.-27 others(50): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSRNP3_chr2_165464698_165694407 | 165520770 | TTATATAT others(22): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00609.hp2 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0003g0166 a0001c0001t0003g0185 a0001c0001t0003g0186 others(66): Show |
70 | 144 | 0.4861 | -29 | c.-24 others(46): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197362 | CTCCCTCC others(22): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 414 | 0.0024 | -29 | c.-29 others(46): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CSRP3_chr11_19177030_19206983 | 19197370 | CTCCCTCC others(22): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 414 | 0.0024 | -29 | c.-29 others(46): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163901 | ATATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG03098.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 |
3 | 301 | 0.0100 | -29 | c.-26 others(40): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2422 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163903 | ATATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02965.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0214 |
3 | 334 | 0.0090 | -29 | c.-26 others(40): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2424 | chr11 | TogoVar | |||||||
CT45A1_chrX_135708639_135728228 | 135722346 | CTCTATCT others(22): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 56 | 0.0179 | -29 | c.512 others(44): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | TogoVar | |||||||
CT45A1_chrX_135708639_135728228 | 135722919 | CTACAGCA others(22): Show |
C | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 56 | 0.0179 | -29 | c.513 others(42): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | chrX | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79720289 | ATGTCACC others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(273): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0007others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0087 a0001c0001t0002g0004 a0001c0001t0002g0005 others(265): Show |
276 | 376 | 0.7340 | -29 | c.241 others(48): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79720423 | ATGTCACC others(22): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG02015.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 a0001c0001t0002g0151 a0001c0001t0002g0155 others(11): Show |
14 | 376 | 0.0372 | -29 | c.241 others(48): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTNNA2_chr2_79508051_80653780 | 80596279 | GTTTTTTT others(22): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 4 | 0.2500 | -29 | c.218 others(48): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3659625 | GGGTGCGG others(22): Show |
G | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0106 | 1 | 370 | 0.0027 | -29 | c.853 others(44): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
CUL2_chr10_35003551_35095341 | 35092722 | CTTAATTT others(22): Show |
C | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0074 | 1 | 298 | 0.0034 | -29 | c.-25 others(40): Show |
CUL2 | ENSG00000108094.17 | transcript | ENST00000374749.8 | protein_coding | 2382 | chr10 | TogoVar | |||||||
CWC27_chr5_64763930_65023750 | 64840377 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0013 | 1 | 254 | 0.0039 | -29 | c.938 others(48): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CWC27_chr5_64763930_65023750 | 64840385 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02717.hp1 NA18973.hp1 others(1): Show |
a0002 | a0002c0002a0002c0004a0002c0006 | a0002c0002t0002a0002c0004t0001a0002c0004t0002others(1): Show | a0002c0002t0002g0058 a0002c0004t0001g0244 a0002c0004t0002g0059 others(1): Show |
4 | 249 | 0.0161 | -29 | c.938 others(48): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CWC27_chr5_64763930_65023750 | 64840387 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG01081.hp1 NA18949.hp1 NA18962.hp1 others(9): Show |
a0002 | a0002c0002a0002c0004a0002c0006 | a0002c0002t0002a0002c0004t0002a0002c0004t0003others(1): Show | a0002c0002t0002g0023 a0002c0004t0002g0019 a0002c0004t0002g0035 others(9): Show |
12 | 251 | 0.0478 | -29 | c.938 others(48): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CXCL1_chr4_73864393_73876308 | 73867750 | ATATATAA others(22): Show |
A | upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 446 | 0.0022 | -29 | c.-17 others(40): Show |
CXCL1 | ENSG00000163739.5 | transcript | ENST00000395761.4 | protein_coding | 1642 | chr4 | TogoVar | |||||||
CYB5D2_chr17_4138197_4162697 | 4159970 | TCCGTACC others(22): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG03540.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 368 | 0.0082 | -29 | c.*28 others(40): Show |
CYB5D2 | ENSG00000167740.10 | transcript | ENST00000301391.8 | protein_coding | 2274 | chr17 | TogoVar | |||||||
CYBC1_chr17_82437586_82455752 | 82441476 | AGGGGCAG others(22): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02559.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0008 a0001c0001t0004g0016 a0001c0001t0004g0043 others(2): Show |
13 | 414 | 0.0314 | -29 | c.*24 others(40): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 1109 | chr17 | TogoVar | |||||||
CYCS_chr7_25113656_25130260 | 25124607 | AGGAGTAG others(22): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0067 | 1 | 434 | 0.0023 | -29 | c.-8- others(42): Show |
CYCS | ENSG00000172115.9 | transcript | ENST00000305786.7 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
CYP27A1_chr2_218777147_218820293 | 218778348 | CTTTTTTT others(22): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0120 |
2 | 14 | 0.1429 | -29 | c.-38 others(40): Show |
CYP27A1 | ENSG00000135929.9 | transcript | ENST00000258415.9 | protein_coding | 3798 | chr2 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15921075 | TCTCTCTC others(22): Show |
T | intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0353 | 1 | 384 | 0.0026 | -29 | c.111 others(46): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
CYRIA_chr2_16544459_16670834 | 16653273 | CCCTGGCC others(22): Show |
C | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 288 | 0.0035 | -29 | c.-16 others(50): Show |
CYRIA | ENSG00000197872.11 | transcript | ENST00000381323.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71658879 | ATTTTGAT others(22): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01978.hp2 HG02004.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0003a0001c0006t0001a0001c0006t0003others(3): Show | a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0006t0001g0057 others(5): Show |
8 | 100 | 0.0800 | -29 | c.964 others(48): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 2/10 | chr13 | TogoVar | |||||||
DACH2_chrX_86143451_86837602 | 86274463 | TTCTTTTT others(22): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 166 | 0.0060 | -29 | c.489 others(50): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACT1_chr14_58632962_58653321 | 58649885 | TTAAGTTG others(22): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02559.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010 | a0002c0002t0002g0006 a0002c0002t0010g0001 |
11 | 388 | 0.0284 | -29 | c.*27 others(40): Show |
DACT1 | ENSG00000165617.16 | transcript | ENST00000395153.8 | protein_coding | 1565 | chr14 | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168309407 | AGGGCCGT others(22): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0107 | 1 | 447 | 0.0022 | -29 | c.659 others(44): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
DAP3_chr1_155684091_155744010 | 155687139 | TACTATAA others(22): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0052 | 1 | 286 | 0.0035 | -29 | c.-20 others(40): Show |
DAP3 | ENSG00000132676.16 | transcript | ENST00000368336.10 | protein_coding | 1951 | chr1 | TogoVar | |||||||
DAP_chr5_10674230_10766234 | 10758911 | CCTCTGAC others(22): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0338 | 1 | 370 | 0.0027 | -29 | c.55+ others(44): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
DBNL_chr7_44039702_44074456 | 44042716 | CCACTTAG others(22): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(96): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0003 | a0001c0002t0005a0001c0002t0007a0001c0002t0008others(24): Show | a0001c0002t0005g0002 a0001c0002t0005g0045 a0001c0002t0005g0102 others(43): Show |
99 | 378 | 0.2619 | -29 | c.-20 others(40): Show |
DBNL | ENSG00000136279.21 | transcript | ENST00000448521.6 | protein_coding | 1985 | chr7 | TogoVar | |||||||
DCAF13_chr8_103410386_103448453 | 103418850 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0135 | 1 | 335 | 0.0030 | -29 | c.71- others(44): Show |
DCAF13 | ENSG00000164934.15 | transcript | ENST00000612750.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DCBLD1_chr6_117477674_117554797 | 117482954 | GCGGGGCG others(22): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00735.hp1 others(94): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026 others(82): Show |
97 | 368 | 0.2636 | -29 | c.112 others(43): Show |
DCBLD1 | ENSG00000164465.19 | transcript | ENST00000338728.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DCBLD2_chr3_98790941_98906695 | 98901248 | AGGCGGGG others(22): Show |
A | frameshift_variant | HIGH | HG01175.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0320 | 1 | 326 | 0.0031 | -29 | c.50_ others(34): Show |
p.Gln others(4): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 1/16 | 447/6128 | 50/2328 | 17/775 | chr3 | TogoVar | |||
DCC_chr18_52335197_53540899 | 53047463 | ACCATTTT others(22): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02257.hp1 HG02486.hp2 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0008others(4): Show | a0001c0002t0001g0029 a0001c0002t0006g0006 a0001c0002t0006g0021 others(6): Show |
9 | 103 | 0.0874 | -29 | c.986 others(48): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 5/28 | chr18 | TogoVar | |||||||
DCC_chr18_52335197_53540899 | 53086015 | TCTCCCTC others(22): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG02647.hp2 HG02809.hp2 |
a0001a0003 | a0001c0003a0001c0007a0003c0006 | a0001c0003t0008a0001c0007t0003a0003c0006t0009 | a0001c0003t0008g0011 a0001c0007t0003g0035 a0003c0006t0009g0046 |
3 | 108 | 0.0278 | -29 | c.126 others(50): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | chr18 | TogoVar | |||||||
DCC_chr18_52335197_53540899 | 53086017 | TCCCTCTC others(22): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00738.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0005a0001c0003t0003a0001c0003t0008others(6): Show | a0001c0002t0005g0065 a0001c0003t0003g0073 a0001c0003t0008g0048 others(7): Show |
10 | 109 | 0.0917 | -29 | c.126 others(50): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | chr18 | TogoVar | |||||||
DCHS2_chr4_154226742_154496799 | 154343150 | CAGGCTGT others(22): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0013 | a0013c0020 | a0013c0020t0007 | a0013c0020t0007g0098 | 1 | 190 | 0.0053 | -29 | c.247 others(48): Show |
DCHS2 | ENSG00000197410.14 | transcript | ENST00000357232.10 | protein_coding | 3/19 | chr4 | TogoVar | |||||||
DCSTAMP_chr8_104334826_104361689 | 104361011 | ATTCCTGA others(22): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 432 | 0.0023 | -29 | c.*48 others(40): Show |
DCSTAMP | ENSG00000164935.6 | transcript | ENST00000297581.2 | protein_coding | 4323 | chr8 | TogoVar | |||||||
DCT_chr13_94431811_94484682 | 94472544 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 325 | 0.0031 | -29 | c.296 others(46): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar |