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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(397): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 228 | 0.0044 | 404 | c.130 others(423): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(397): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01346.hp2 NA19064.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005 | a0001c0001t0001g0252 a0001c0002t0002g0250 a0001c0002t0005g0253 |
3 | 230 | 0.0130 | 404 | c.130 others(423): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACOT11_chr1_54543228_54615329 | 54561917 | C | CCCCCACC others(397): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18970.hp2 NA18974.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0214 a0001c0001t0008g0007 a0001c0001t0008g0147 others(3): Show |
6 | 287 | 0.0209 | 404 | c.33+ others(421): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(397): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0005 | a0001c0005t0072 | a0001c0005t0072g0133 | 1 | 204 | 0.0049 | 404 | c.259 others(425): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(397): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 30 | 0.0333 | 404 | c.*51 others(415): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(397): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0018 | a0001c0001t0014g0075 a0001c0001t0014g0081 a0001c0001t0018g0171 |
3 | 32 | 0.0938 | 404 | c.*51 others(415): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(397): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 30 | 0.0333 | 404 | c.*51 others(415): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581275 | T | TACGTATA others(397): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0032 | 1 | 104 | 0.0096 | 404 | c.48- others(421): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58550503 | T | TATACAAC others(397): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(37): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0079a0002c0001others(12): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(22): Show | a0001c0002t0001g0126 a0001c0002t0001g0174 a0001c0002t0001g0185 others(37): Show |
40 | 153 | 0.2614 | 404 | c.196 others(425): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58550503 | T | TATACAAC others(397): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03139.hp1 others(1): Show |
a0003a0009a0016 | a0003c0004a0009c0007a0016c0030 | a0003c0004t0003a0003c0004t0011a0009c0007t0011others(1): Show | a0003c0004t0003g0253 a0003c0004t0011g0094 a0009c0007t0011g0114 others(1): Show |
4 | 117 | 0.0342 | 404 | c.196 others(425): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58550503 | T | TATACAAC others(397): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(52): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0023a0001c0081others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(30): Show | a0001c0002t0001g0200 a0001c0002t0001g0231 a0001c0002t0001g0238 others(52): Show |
55 | 168 | 0.3274 | 404 | c.196 others(425): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58550503 | T | TATACAAC others(397): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03453.hp1 |
a0003 | a0003c0020 | a0003c0020t0003a0003c0020t0008 | a0003c0020t0003g0258 a0003c0020t0008g0143 |
2 | 115 | 0.0174 | 404 | c.196 others(425): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58550514 | A | ATCCCCAT others(397): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0044 | a0044c0075 | a0044c0075t0002 | a0044c0075t0002g0046 | 1 | 206 | 0.0049 | 404 | c.196 others(425): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58550514 | A | ATCCCCAT others(397): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(109): Show |
a0001a0002a0003others(23): Show | a0001c0002a0001c0014a0001c0080others(43): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(72): Show | a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0166 others(109): Show |
112 | 317 | 0.3533 | 404 | c.196 others(425): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431458 | C | CCCGCGGG others(397): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0250 a0001c0001t0001g0272 |
3 | 281 | 0.0107 | 404 | c.539 others(419): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431458 | C | CCCGCGGG others(397): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 279 | 0.0036 | 404 | c.539 others(419): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
APOOL_chrX_84998877_85098315 | 85088071 | C | CGTATTAA others(397): Show |
3_prime_UTR_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0027 | 1 | 221 | 0.0045 | 404 | c.*39 others(413): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | chrX | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(397): Show |
intron_variant | MODIFIER | HG02055.hp2 NA20805.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0019 | a0002c0001t0002g0154 a0002c0001t0019g0025 |
2 | 269 | 0.0074 | 404 | c.924 others(421): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758432 | T | TCACCTGC others(397): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0253 | 1 | 173 | 0.0058 | 404 | c.655 others(423): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278961 | C | CGGGAGGG others(397): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 323 | 0.0031 | 404 | c.465 others(419): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176905 | C | CTGTATAC others(397): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0228 | 1 | 327 | 0.0031 | 404 | c.366 others(421): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72106698 | G | GAGGAAGG others(397): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0002 | 1 | 128 | 0.0078 | 404 | c.245 others(419): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209301 | T | TTTCCTTC others(397): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015 | a0001c0001t0010g0114 a0001c0001t0015g0042 |
2 | 103 | 0.0194 | 404 | c.244 others(423): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(397): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 259 | 0.0039 | 404 | c.907 others(419): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(397): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0013 | a0013c0014 | a0013c0014t0001 | a0013c0014t0001g0014 | 1 | 56 | 0.0179 | 404 | c.-29 others(415): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CCDC63_chr12_110841987_110912535 | 110905917 | A | ATATATAA others(397): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 92 | 0.0109 | 404 | c.154 others(423): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882406 | G | GGGGGAGA others(397): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0031 | 1 | 235 | 0.0043 | 404 | c.303 others(423): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882475 | G | GGGAGAAG others(397): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0010 | a0001c0010t0017 | a0001c0010t0017g0144 | 1 | 244 | 0.0041 | 404 | c.303 others(423): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 628625 | C | CAGGGAGT others(397): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0054 |
2 | 54 | 0.0370 | 404 | c.512 others(421): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(397): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0024 | 1 | 8 | 0.1250 | 404 | c.*69 others(415): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575597 | T | CGTATATA others(397): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18956.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0237 |
3 | 242 | 0.0124 | 404 | c.894 others(419): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575597 | T | CGTATATA others(397): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 240 | 0.0042 | 404 | c.894 others(419): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(397): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 2 | 0.5000 | 404 | c.162 others(425): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104036113 | T | TATATGTG others(397): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0018 | a0018c0055 | a0018c0055t0001 | a0018c0055t0001g0066 | 1 | 124 | 0.0081 | 404 | c.341 others(421): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255826 | A | AGGGGAAA others(397): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0088 | a0002c0088t0003 | a0002c0088t0003g0223 | 1 | 294 | 0.0034 | 404 | c.85- others(421): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(397): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 348 | 0.0029 | 404 | c.51+ others(419): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(397): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 348 | 0.0029 | 404 | c.51+ others(419): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130591387 | A | AAGGAGGT others(397): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 102 | 0.0098 | 404 | c.737 others(423): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130591387 | A | AAGGAGGT others(397): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 102 | 0.0098 | 404 | c.737 others(423): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226960391 | A | AGTGGTAC others(397): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0141 | 1 | 20 | 0.0500 | 404 | c.-9- others(417): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978464 | A | ATTTATAT others(397): Show |
intron_variant | MODIFIER | HG02735.hp2 NA18946.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0028 a0001c0001t0003g0023 a0001c0001t0003g0024 |
3 | 80 | 0.0375 | 404 | c.-2+ others(421): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(397): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02300.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show |
4 | 120 | 0.0333 | 404 | c.927 others(419): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198193 | C | CAGGACAC others(397): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0016 | 1 | 152 | 0.0066 | 404 | c.646 others(419): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240980019 | A | AGTCTCTG others(397): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0153 | 1 | 347 | 0.0029 | 404 | c.440 others(423): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | chr2 | TogoVar | |||||||
CXorf51A_chrX_146809106_146819744 | 146812300 | C | CATATATA others(397): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 195 | 0.0051 | 404 | c.*19 others(415): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1805 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812300 | C | CATATATA others(397): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 199 | 0.0050 | 404 | c.*19 others(415): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1890 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812300 | C | CATATATA others(397): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 199 | 0.0050 | 404 | c.*19 others(415): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1890 | chrX | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238179 | A | AGGGAGGA others(397): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0103 | 1 | 197 | 0.0051 | 404 | c.923 others(423): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397652 | C | CGGGGTGG others(397): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 355 | 0.0028 | 404 | c.-43 others(415): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4232 | chr16 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397709 | T | TGGGGGGG others(397): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 307 | 0.0033 | 404 | c.-42 others(415): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4175 | chr16 | TogoVar |