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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C20orf85_chr20_58145902_58166150 | 58163238 | C | CCTCCCTA others(21): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 328 | 0.0030 | 28 | c.*24 others(39): Show |
C20orf85 | ENSG00000124237.6 | transcript | ENST00000371168.4 | protein_coding | 2089 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278933 | A | AGGGAGGG others(21): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 403 | 0.0025 | 28 | c.465 others(43): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278941 | C | CGGGACGG others(21): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18940.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 a0002c0002t0001g0187 |
2 | 351 | 0.0057 | 28 | c.465 others(43): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278946 | C | CGGAGGGA others(21): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0035 | 1 | 356 | 0.0028 | 28 | c.465 others(43): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278956 | G | GAGGGCAG others(21): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03704.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0304 a0001c0003t0001g0326 |
2 | 401 | 0.0050 | 28 | c.465 others(43): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C21orf62_chr21_32785673_32818703 | 32804275 | T | TTTTATAT others(21): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0148 | 1 | 70 | 0.0143 | 28 | c.-65 others(45): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41908243 | T | TTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG02135.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0004a0001c0001t0006a0003c0009t0002others(2): Show | a0001c0001t0004g0113 a0001c0001t0006g0277 a0003c0009t0002g0369 others(4): Show |
7 | 120 | 0.0583 | 28 | c.101 others(45): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCC others(21): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01943.hp1 HG03041.hp1 others(2): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0009others(2): Show | a0001c0002t0001g0127 a0001c0002t0002g0129 a0001c0004t0009g0137 others(2): Show |
5 | 243 | 0.0206 | 28 | c.280 others(45): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0001 | a0001c0001t0002g0291 a0001c0007t0001g0283 |
2 | 240 | 0.0083 | 28 | c.280 others(45): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG02300.hp2 NA18966.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0004 | a0001c0001t0002g0367 a0001c0003t0004g0219 |
2 | 117 | 0.0171 | 28 | c.280 others(45): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01099.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0380 a0001c0001t0002g0058 a0001c0001t0002g0168 others(20): Show |
23 | 138 | 0.1667 | 28 | c.280 others(45): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74116927 | C | CGTGTATA others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0025 | a0025c0040 | a0025c0040t0001 | a0025c0040t0001g0301 | 1 | 315 | 0.0032 | 28 | c.152 others(47): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74116987 | C | CATATACG others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01358.hp2 HG01361.hp1 others(3): Show |
a0001a0012 | a0001c0001a0012c0014 | a0001c0001t0001a0012c0014t0001 | a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0152 others(3): Show |
6 | 291 | 0.0206 | 28 | c.152 others(47): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117361 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0078 | 1 | 20 | 0.0500 | 28 | c.152 others(45): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74146747 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0213 | 1 | 87 | 0.0115 | 28 | c.484 others(45): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 400492 | G | GGGTTCCC others(21): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0095 | 1 | 319 | 0.0031 | 28 | c.*66 others(39): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 4952 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 400936 | G | GGGTTCCC others(21): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0174 | 1 | 320 | 0.0031 | 28 | c.*61 others(39): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 4508 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404700 | G | GGGGGGGA others(21): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0117 | 1 | 308 | 0.0032 | 28 | c.*23 others(39): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 744 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404762 | T | TGGGGGGG others(21): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0135 | a0001c0001t0036g0086 a0001c0001t0135g0108 |
2 | 320 | 0.0063 | 28 | c.*23 others(39): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 682 | chr19 | TogoVar | |||||||
C2orf69_chr2_199906293_199933273 | 199922031 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01358.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0003g0064 a0001c0001t0003g0163 a0001c0001t0003g0176 others(7): Show |
12 | 74 | 0.1622 | 28 | c.334 others(45): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf72_chr2_231032523_231054719 | 231044945 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0063 | 1 | 178 | 0.0056 | 28 | c.749 others(45): Show |
C2orf72 | ENSG00000204128.6 | transcript | ENST00000373640.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf72_chr2_231032523_231054719 | 231044962 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0006 | a0002c0006t0012 | a0002c0006t0012g0205 | 1 | 441 | 0.0023 | 28 | c.749 others(45): Show |
C2orf72 | ENSG00000204128.6 | transcript | ENST00000373640.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73810969 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0047 | 1 | 197 | 0.0051 | 28 | c.98- others(43): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf88_chr2_190175863_190208484 | 190192452 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0113 | 1 | 90 | 0.0111 | 28 | c.-16 others(47): Show |
C2orf88 | ENSG00000187699.10 | transcript | ENST00000340623.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf92_chr2_97664713_97708066 | 97705958 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG01361.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0072 a0003c0003t0001g0073 |
2 | 182 | 0.0110 | 28 | c.*31 others(39): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 2893 | chr2 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6689327 | A | ATCTCTCT others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0336 | 1 | 338 | 0.0030 | 28 | c.348 others(47): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6700219 | T | TATATAAT others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG02896.hp2 others(6): Show |
a0001a0003 | a0001c0010a0001c0012a0001c0052others(1): Show | a0001c0010t0001a0001c0012t0001a0001c0052t0001others(1): Show | a0001c0010t0001g0068 a0001c0010t0001g0069 a0001c0010t0001g0217 others(6): Show |
9 | 365 | 0.0247 | 28 | c.244 others(47): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | |||||||
C3orf38_chr3_88144959_88162965 | 88162142 | G | GAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 31 | 0.0323 | 28 | c.*55 others(39): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 4178 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185073970 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 125 | 0.0080 | 28 | c.*90 others(39): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2867 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185079280 | C | CAAAAAAA others(21): Show |
3_prime_UTR_variant | MODIFIER | HG01256.hp2 HG01361.hp2 NA18999.hp2 |
a0002 | a0002c0002 | a0002c0002t0027a0002c0002t0073 | a0002c0002t0027g0295 a0002c0002t0027g0308 a0002c0002t0073g0343 |
3 | 258 | 0.0116 | 28 | c.*37 others(39): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2/2 | 3726 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185134116 | C | CTCATATA others(21): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0348 | 1 | 376 | 0.0027 | 28 | c.196 others(47): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 121 | 0.0083 | 28 | c.-18 others(39): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | |||||||
C3orf84_chr3_49172634_49196858 | 49194290 | G | GTATATAT others(21): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 NA19090.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0045 |
2 | 301 | 0.0066 | 28 | c.-25 others(39): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2433 | chr3 | TogoVar | |||||||
C3orf84_chr3_49172634_49196858 | 49195201 | C | CCTGAGGT others(21): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 304 | 0.0033 | 28 | c.-34 others(39): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 3344 | chr3 | TogoVar | |||||||
C4orf17_chr4_99506021_99547303 | 99535330 | T | TTTTCCAA others(21): Show |
intron_variant | MODIFIER | NA18976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 384 | 0.0026 | 28 | c.547 others(45): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37508683 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0083 | 1 | 140 | 0.0071 | 28 | c.-72 others(47): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG03654.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0004a0002c0002t0008 | a0001c0001t0003g0021 a0001c0001t0003g0310 a0002c0002t0004g0332 others(2): Show |
5 | 177 | 0.0282 | 28 | c.*57 others(39): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf33_chr4_129091152_129121637 | 129115819 | T | TATATAAT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG03710.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0016 | 2 | 389 | 0.0051 | 28 | c.*40 others(39): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 6/6 | 4034 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf45_chr4_158888134_159040229 | 158930191 | G | GTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 a0001c0001t0001g0243 |
2 | 56 | 0.0357 | 28 | c.357 others(47): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121024279 | A | AGGGAGGG others(21): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 188 | 0.0053 | 28 | c.100 others(45): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0183 | 1 | 113 | 0.0088 | 28 | c.216 others(45): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1041214 | C | CGGGACCT others(21): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 | 1 | 315 | 0.0032 | 28 | c.130 others(47): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1041214 | C | CGGTACCT others(21): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01192.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008 | a0001c0001t0002g0277 a0001c0001t0005g0242 a0001c0001t0008g0151 |
3 | 317 | 0.0095 | 28 | c.130 others(47): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1041217 | G | TACCTGGG others(21): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01358.hp2 others(14): Show |
a0001a0004a0009 | a0001c0001a0004c0005a0009c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0003g0255 a0001c0001t0005g0204 a0001c0001t0005g0214 others(14): Show |
17 | 214 | 0.0794 | 28 | c.130 others(47): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1041230 | C | CGCTGCGG others(21): Show |
intron_variant | MODIFIER | HG02965.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 a0001c0001t0002g0298 |
2 | 324 | 0.0062 | 28 | c.130 others(47): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1135938 | A | AGTATATA others(21): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0164 | 1 | 324 | 0.0031 | 28 | c.-2+ others(43): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48051795 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | NA18966.hp2 NA19009.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0014 | 2 | 305 | 0.0066 | 28 | c.606 others(43): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051809 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01358.hp2 |
a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0220 a0002c0001t0005g0221 |
2 | 374 | 0.0053 | 28 | c.606 others(43): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48051888 | T | TTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02970.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0061 a0002c0001t0002g0062 |
2 | 298 | 0.0067 | 28 | c.606 others(43): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56870681 | T | TAAATTAA others(21): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03490.hp1 HG03492.hp1 others(2): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0001c0001t0005a0003c0003t0002others(1): Show | a0001c0001t0001g0216 a0001c0001t0005g0214 a0003c0003t0002g0040 others(1): Show |
5 | 357 | 0.0140 | 28 | c.171 others(45): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 2/10 | chr1 | TogoVar |