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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST11_chr12_104451948_104767014 | 104646620 | TAGTTGAC others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00741.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0100a0001c0001t0001g0114a0001c0001t0001g0118others(19): Show | 22 | 240 | 0.0917 | -19 | c.204 others(38): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757383 | AAAAGAAG others(12): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0178 | 2 | 254 | 0.0079 | -19 | c.131 others(38): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST9_chr18_26901481_27190308 | 26971813 | TGGCTATG others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(168): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0008a0001c0001t0001g0037a0001c0001t0001g0038others(168): Show | 171 | 262 | 0.6527 | -19 | c.203 others(38): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27014453 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0028 | 1 | 262 | 0.0038 | -19 | c.202 others(36): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020440 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG00639.hp1 NA19030.hp2 |
a0002a0007 | a0002c0005a0007c0020 | a0002c0005t0005a0007c0020t0003 | a0002c0005t0005g0056a0007c0020t0003g0058 | 2 | 276 | 0.0073 | -19 | c.108 others(42): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020445 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 HG02280.hp1 others(2): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0007t0009others(1): Show | a0001c0001t0002g0150a0001c0001t0002g0170a0001c0002t0001g0060others(2): Show | 5 | 276 | 0.0181 | -19 | c.108 others(42): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130020447 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01074.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0007others(1): Show | a0001c0001t0002a0002c0003t0011a0002c0007t0002others(2): Show | a0001c0001t0002g0117a0001c0001t0002g0132a0001c0001t0002g0147others(14): Show | 17 | 276 | 0.0616 | -19 | c.108 others(42): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130020449 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02055.hp1 HG02451.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0002a0001c0008t0001a0002c0003t0002others(2): Show | a0001c0001t0002g0151a0001c0001t0002g0179a0001c0001t0002g0193others(9): Show | 12 | 276 | 0.0435 | -19 | c.108 others(42): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130020451 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 276 | 0.0036 | -19 | c.108 others(42): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130043686 | AGTCATTT others(12): Show |
A | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 276 | 0.0036 | -19 | c.108 others(42): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHUK_chr10_100183300_100234596 | 100183532 | CTTCCAAG others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 402 | 0.0025 | -19 | c.*60 others(30): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 4767 | chr10 | TogoVar | ||||||
CIAPIN1_chr16_57423187_57452385 | 57445834 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02886.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0122 | 4 | 390 | 0.0103 | -19 | c.-56 others(36): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119735907 | GAAACTCA others(12): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0080 | 1 | 236 | 0.0042 | -19 | c.295 others(36): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119739534 | AACTTGCA others(12): Show |
A | intron_variant | MODIFIER | NA18983.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0143a0001c0001t0004g0166 | 2 | 236 | 0.0085 | -19 | c.295 others(38): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121398692 | GGATTCGC others(12): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(25): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0034others(5): Show | a0001c0001t0002g0101a0001c0001t0002g0105a0001c0001t0002g0106others(25): Show | 28 | 214 | 0.1308 | -19 | c.296 others(36): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 29/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121469050 | TGTTTGTT others(12): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056a0001c0001t0003g0064 | 2 | 214 | 0.0094 | -19 | c.865 others(34): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 9/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121500373 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG02896.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0071 | a0001c0001t0027g0099a0001c0001t0071g0100 | 2 | 214 | 0.0094 | -19 | c.712 others(36): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121517858 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 214 | 0.0047 | -19 | c.547 others(36): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 6/40 | chr2 | TogoVar | ||||||
CLCC1_chr1_108924505_108968484 | 108965144 | CCCCACAT others(12): Show |
C | upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0267 | 1 | 394 | 0.0025 | -19 | c.-19 others(30): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 1661 | chr1 | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10239513 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02602.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0039 | a0001c0001t0010g0059a0001c0001t0010g0168a0001c0001t0010g0169others(1): Show | 4 | 264 | 0.0152 | -19 | c.*59 others(30): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 1854 | chrX | TogoVar | ||||||
CLDN15_chr7_101227094_101242802 | 101238451 | TGGGAGGC others(12): Show |
T | upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 402 | 0.0025 | -19 | c.-88 others(28): Show |
CLDN15 | ENSG00000106404.14 | transcript | ENST00000308344.10 | protein_coding | 650 | chr7 | TogoVar | ||||||
CLDN7_chr17_7254903_7267478 | 7264294 | TTTTTTTT others(12): Show |
T | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -19 | c.-22 others(30): Show |
CLDN7 | ENSG00000181885.18 | transcript | ENST00000360325.11 | protein_coding | 1817 | chr17 | TogoVar | ||||||
CLDN7_chr17_7254903_7267478 | 7265112 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(160): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(11): Show | 163 | 418 | 0.3900 | -19 | c.-30 others(30): Show |
CLDN7 | ENSG00000181885.18 | transcript | ENST00000360325.11 | protein_coding | 2635 | chr17 | TogoVar | ||||||
CLEC19A_chr16_19280731_19315947 | 19301727 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0118 | 1 | 426 | 0.0024 | -19 | c.255 others(36): Show |
CLEC19A | ENSG00000261210.8 | transcript | ENST00000636231.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLEC2L_chr7_139518685_139549985 | 139529103 | TAAAGCAC others(12): Show |
T | intron_variant | MODIFIER | NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 2 | 308 | 0.0065 | -19 | c.190 others(36): Show |
CLEC2L | ENSG00000236279.7 | transcript | ENST00000422142.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLEC4F_chr2_70803643_70825599 | 70813492 | CTTTTTCT others(12): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0154 | 1 | 414 | 0.0024 | -19 | c.138 others(36): Show |
CLEC4F | ENSG00000152672.8 | transcript | ENST00000272367.7 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24834795 | TGAGAGGG others(12): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0328a0001c0001t0004g0330a0001c0001t0004g0331others(8): Show | 11 | 344 | 0.0320 | -19 | c.416 others(36): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLIP1_chr12_122266469_122427669 | 122341762 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02895.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0016a0001c0001t0022a0001c0001t0025others(1): Show | a0001c0001t0016g0032a0001c0001t0022g0031a0001c0001t0025g0030others(2): Show | 5 | 234 | 0.0214 | -19 | c.150 others(34): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 10/25 | chr12 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74390150 | AAAAGAAA others(12): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 278 | 0.0036 | -19 | c.272 others(36): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLIP3_chr19_36009660_36037873 | 36030995 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0003 | a0001c0001t0003g0013a0001c0001t0003g0049a0001c0001t0003g0051others(2): Show | 7 | 416 | 0.0168 | -19 | c.166 others(36): Show |
CLIP3 | ENSG00000105270.15 | transcript | ENST00000360535.9 | protein_coding | 2/13 | chr19 | TogoVar | ||||||
CLK2_chr1_155257868_155278504 | 155258318 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 331 | 0.0030 | -19 | c.*48 others(30): Show |
CLK2 | ENSG00000176444.19 | transcript | ENST00000368361.9 | protein_coding | 4549 | chr1 | TogoVar | ||||||
CLMN_chr14_95176940_95324908 | 95245191 | TATAATAT others(12): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0006 | a0004c0006t0010 | a0004c0006t0010g0064 | 1 | 276 | 0.0036 | -19 | c.83- others(36): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150516 | GAAGGAAG others(12): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 254 | 0.0039 | -19 | c.28+ others(36): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1763596 | CCGCCGCG others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01516.hp1 HG01517.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0050a0001c0001t0063 | a0001c0001t0001g0002a0001c0001t0001g0037a0001c0001t0001g0042others(4): Show | 8 | 413 | 0.0194 | -19 | c.-41 others(28): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 192 | chr8 | TogoVar | ||||||
CLPB_chr11_72280495_72439531 | 72333929 | GGAGCTCT others(12): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0066a0001c0001t0005g0067a0001c0001t0008g0124others(1): Show | 4 | 206 | 0.0194 | -19 | c.866 others(36): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 6/16 | chr11 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65165737 | GTATAGAA others(12): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0062 | 1 | 190 | 0.0053 | -19 | c.513 others(34): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 4/13 | chr15 | TogoVar | ||||||
CLRN2_chr4_17510165_17532104 | 17519183 | GATGCTGA others(12): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 442 | 0.0023 | -19 | c.254 others(36): Show |
CLRN2 | ENSG00000249581.2 | transcript | ENST00000511148.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140551809 | ATAAATAT others(12): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0018 | a0001c0001t0002g0091a0001c0009t0018g0018 | 2 | 110 | 0.0182 | -19 | c.167 others(38): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN3_chr12_7125371_7163945 | 7126513 | GTGTGTGT others(12): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0001g0117a0001c0001t0001g0167a0001c0001t0001g0174others(34): Show | 42 | 394 | 0.1066 | -19 | c.-41 others(30): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 3857 | chr12 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645811 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0132 | 1 | 414 | 0.0024 | -19 | c.139 others(36): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | chr18 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99636455 | GGCTGGGC others(12): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 218 | 0.0046 | -19 | c.62+ others(36): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99644099 | TTATATGT others(12): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0051a0001c0001t0001g0053a0001c0001t0001g0072others(6): Show | 9 | 218 | 0.0413 | -19 | c.62+ others(36): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CMAS_chr12_22041218_22070668 | 22041964 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(140): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(107): Show | 143 | 450 | 0.3178 | -19 | c.-43 others(30): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4253 | chr12 | TogoVar | ||||||
CMBL_chr5_10272595_10312902 | 10308191 | TTTTTGTT others(12): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0237 | 1 | 350 | 0.0029 | -19 | c.-60 others(28): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 290 | chr5 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965197 | AAAAACAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0146 | a0001c0001t0051g0218a0001c0001t0146g0206 | 2 | 408 | 0.0049 | -19 | c.*10 others(32): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1250 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965199 | AAACATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG01071.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0047a0002c0002t0031 | a0001c0001t0047g0050a0002c0002t0031g0059 | 2 | 408 | 0.0049 | -19 | c.*10 others(32): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1248 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81492564 | TGGGCCTT others(12): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp1 others(55): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(55): Show | 58 | 268 | 0.2164 | -19 | c.300 others(38): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81557293 | GTGTTGGT others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00735.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0034a0001c0001t0001g0038a0001c0001t0001g0056others(18): Show | 21 | 268 | 0.0784 | -19 | c.301 others(38): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81648784 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(93): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0018others(93): Show | 96 | 268 | 0.3582 | -19 | c.478 others(36): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81716532 | AAGATAGA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111 | 1 | 268 | 0.0037 | -19 | c.*67 others(30): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 4771 | chr16 | TogoVar |