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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3155): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01074.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(1): Show | a0001c0001t0003g0003a0001c0001t0005g0005a0001c0001t0005g0017others(2): Show | 17 | 431 | 0.0394 | 3162 | c.*85 others(3173): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3155): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0014 | 1 | 431 | 0.0023 | 3162 | c.*85 others(3173): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3155): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3162 | c.*85 others(3173): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3155): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 1 | 431 | 0.0023 | 3162 | c.*85 others(3173): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3155): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3162 | c.*85 others(3173): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3155): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003a0001c0001t0003g0072 | 2 | 431 | 0.0046 | 3162 | c.*85 others(3173): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3155): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0065 | 1 | 284 | 0.0035 | 3162 | c.101 others(3181): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3155): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0048 | 1 | 284 | 0.0035 | 3162 | c.101 others(3181): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3155): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0050 | 1 | 284 | 0.0035 | 3162 | c.101 others(3181): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3155): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0167 | 1 | 184 | 0.0054 | 3162 | c.280 others(3183): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3155): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0011 | a0001c0011t0012 | a0001c0011t0012g0011 | 1 | 264 | 0.0038 | 3162 | c.400 others(3181): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3155): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0012 | a0001c0012t0045 | a0001c0012t0045g0233 | 1 | 264 | 0.0038 | 3162 | c.400 others(3181): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3155): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 264 | 0.0038 | 3162 | c.400 others(3181): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EPPK1_chr8_143852324_143883467 | 143859335 | T | TCGGCCCG others(3155): Show |
conservative_inframe_insertion | MODERATE | HG01884.hp1 | a0054 | a0054c0340 | a0054c0340t0027 | a0054c0340t0027g0045 | 1 | 424 | 0.0024 | 3162 | c.139 others(3173): Show |
p.Ala others(3177): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13993/16005 | 13918/15267 | 4640/5088 | chr8 | TogoVar | ||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3155): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 318 | 0.0031 | 3162 | c.-91 others(3183): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21097957 | T | TAAATGTT others(3155): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0036 | a0001c0004t0036g0071 | 1 | 132 | 0.0076 | 3162 | c.55+ others(3179): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(3155): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0240 | 1 | 314 | 0.0032 | 3162 | c.189 others(3179): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRF1_chr14_105204286_105306001 | 105236821 | C | CAACAACC others(3156): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 72 | 0.0139 | 3163 | c.694 others(3180): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105240774 | G | GCAGCCCC others(3156): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0072 | 1 | 72 | 0.0139 | 3163 | c.694 others(3178): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0014 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0014 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0037 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0020 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01255.hp1 HG02027.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0013 | a0001c0001t0003g0003a0001c0001t0005g0005a0001c0001t0013g0015 | 6 | 431 | 0.0139 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0028 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3156): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3163 | c.*85 others(3174): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3156): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0030 | 1 | 284 | 0.0035 | 3163 | c.101 others(3182): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3156): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0060 | a0001c0060t0001 | a0001c0060t0001g0090 | 1 | 184 | 0.0054 | 3163 | c.280 others(3184): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FAM168A_chr11_73395487_73603112 | 73505215 | T | TAAAAGTC others(3156): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0126 | 1 | 180 | 0.0056 | 3163 | c.-18 others(3182): Show |
FAM168A | ENSG00000054965.11 | transcript | ENST00000356467.5 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323552 | G | GTGTGTGT others(3156): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0061 | 1 | 155 | 0.0065 | 3163 | c.-47 others(3174): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4757 | chrX | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3156): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 318 | 0.0031 | 3163 | c.-91 others(3184): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3157): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3164 | c.*85 others(3175): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3157): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3164 | c.*85 others(3175): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3157): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0015 | 1 | 431 | 0.0023 | 3164 | c.*85 others(3175): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3157): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3164 | c.*85 others(3175): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3157): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 431 | 0.0023 | 3164 | c.*85 others(3175): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(3157): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0302 | 1 | 324 | 0.0031 | 3164 | c.340 others(3181): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(3157): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0044 | 1 | 284 | 0.0035 | 3164 | c.101 others(3183): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(3157): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0110 | 1 | 130 | 0.0077 | 3164 | c.261 others(3183): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3157): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0196 | 1 | 350 | 0.0029 | 3164 | c.192 others(3179): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(3158): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0062 | a0001c0001t0026g0143a0001c0001t0062g0144 | 2 | 214 | 0.0094 | 3165 | c.565 others(3182): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar |