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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C19orf38_chr19_10843415_10874790 | 10871604 | G | GGCGGCGG others(17): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 368 | 0.0027 | 24 | c.*22 others(35): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 1815 | chr19 | TogoVar | |||||||
C19orf38_chr19_10843415_10874790 | 10871637 | G | GGCGGCGG others(17): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 | 1 | 376 | 0.0027 | 24 | c.*22 others(35): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 1848 | chr19 | TogoVar | |||||||
C19orf53_chr19_13769456_13783773 | 13780105 | C | CTATTTAC others(17): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 432 | 0.0023 | 24 | c.*19 others(35): Show |
C19orf53 | ENSG00000104979.9 | transcript | ENST00000588234.6 | protein_coding | 1333 | chr19 | TogoVar | |||||||
C19orf85_chr19_55458001_55469751 | 55466676 | G | GGTGTGTG others(17): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 HG03225.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
3 | 234 | 0.0128 | 24 | c.-21 others(35): Show |
C19orf85 | ENSG00000283567.2 | transcript | ENST00000635964.2 | protein_coding | 1926 | chr19 | TogoVar | |||||||
C1QL3_chr10_16508734_16526879 | 16519140 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01074.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0035 others(10): Show |
33 | 156 | 0.2115 | 24 | c.588 others(41): Show |
C1QL3 | ENSG00000165985.11 | transcript | ENST00000298943.4 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
C1QTNF1_chr17_79019169_79054788 | 79048136 | T | TGCTGACC others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(155): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0006others(4): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0025others(11): Show | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0015 others(114): Show |
158 | 390 | 0.4051 | 24 | c.*58 others(31): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 4/4 | 59 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
C1QTNF9_chr13_24304580_24327531 | 24309283 | T | TTATATAT others(17): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG02129.hp2 HG02895.hp2 others(8): Show |
a0001a0003a0007 | a0001c0001a0001c0012a0003c0003others(1): Show | a0001c0001t0001a0001c0012t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0129 others(5): Show |
11 | 129 | 0.0853 | 24 | c.-35 others(33): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 296 | chr13 | TogoVar | |||||||
C1orf100_chr1_244347635_244394663 | 244373332 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 133 | 0.0075 | 24 | c.57- others(39): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf100_chr1_244347635_244394663 | 244373332 | T | TTTTATAT others(17): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0090 |
3 | 135 | 0.0222 | 24 | c.57- others(39): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10986123 | G | GCACACAC others(17): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG04184.hp1 |
a0001a0002 | a0001c0001a0002c0024 | a0001c0001t0001a0002c0024t0001 | a0001c0001t0001g0082 a0002c0024t0001g0092 |
2 | 319 | 0.0063 | 24 | c.-40 others(35): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 4048 | chr1 | TogoVar | |||||||
C1orf167_chr1_11757193_11794585 | 11772894 | C | CATTATTA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02258.hp1 HG02723.hp2 others(2): Show |
a0007a0014a0039 | a0007c0010a0007c0057a0014c0015others(1): Show | a0007c0010t0001a0007c0057t0003a0014c0015t0001others(1): Show | a0007c0010t0001g0050 a0007c0010t0001g0199 a0007c0057t0003g0019 others(2): Show |
5 | 306 | 0.0163 | 24 | c.198 others(41): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184386789 | C | CCACACAC others(17): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 37 | 0.0270 | 24 | c.-70 others(33): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 239 | chr1 | TogoVar | |||||||
C1orf21_chr1_184382029_184634019 | 184559509 | T | TCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0021 | 1 | 222 | 0.0045 | 24 | c.190 others(43): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf226_chr1_162376728_162391812 | 162387592 | T | TCCAAAGG others(17): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 472 | 0.0021 | 24 | c.*39 others(35): Show |
C1orf226 | ENSG00000239887.6 | transcript | ENST00000458626.4 | protein_coding | 781 | chr1 | TogoVar | |||||||
C1orf50_chr1_42762249_42784491 | 42775762 | T | TTATATAT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02683.hp1 NA19043.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0077a0001c0001t0078a0001c0001t0079 | a0001c0001t0077g0005 a0001c0001t0078g0074 a0001c0001t0079g0025 |
3 | 145 | 0.0207 | 24 | c.*36 others(33): Show |
C1orf50 | ENSG00000164008.17 | transcript | ENST00000372525.7 | protein_coding | 5/5 | 393 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf54_chr1_150267790_150285916 | 150284003 | T | TTTATTAT others(17): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0039 |
4 | 372 | 0.0108 | 24 | c.*31 others(35): Show |
C1orf54 | ENSG00000118292.9 | transcript | ENST00000369099.8 | protein_coding | 3088 | chr1 | TogoVar | |||||||
C1orf87_chr1_59985394_60078770 | 60065003 | T | TAAATATA others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02056.hp2 HG02155.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(1): Show |
4 | 176 | 0.0227 | 24 | c.107 others(41): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32630986 | A | AAGGAAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0035 | a0001c0001t0017g0329 a0001c0001t0017g0330 a0001c0001t0017g0331 others(1): Show |
4 | 358 | 0.0112 | 24 | c.*45 others(35): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 638 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32631006 | A | AAGGGAGG others(17): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0209 | 1 | 358 | 0.0028 | 24 | c.*45 others(35): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 618 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00639.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0002g0231 a0001c0001t0003g0294 a0001c0001t0003g0295 others(13): Show |
17 | 139 | 0.1223 | 24 | c.-26 others(43): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTTTATAC others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 2 | 124 | 0.0161 | 24 | c.-26 others(43): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTTTATAT others(17): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01255.hp2 HG02135.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017 | a0001c0001t0001g0227 a0001c0001t0002g0201 a0001c0001t0002g0224 others(6): Show |
9 | 131 | 0.0687 | 24 | c.-26 others(43): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 273903 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0354 | 1 | 221 | 0.0045 | 24 | c.103 others(43): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278930 | C | CGGAGGGA others(17): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 322 | 0.0031 | 24 | c.465 others(39): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278956 | G | GCGGGAGG others(17): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0378 | 1 | 400 | 0.0025 | 24 | c.465 others(39): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279114 | G | GGGAGGGA others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 HG02976.hp2 HG03195.hp1 others(1): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0001a0002c0012t0001 | a0002c0002t0001g0049 a0002c0002t0001g0243 a0002c0002t0001g0265 others(1): Show |
4 | 403 | 0.0099 | 24 | c.465 others(37): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279119 | G | GGAGGGAC others(17): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 | 1 | 408 | 0.0025 | 24 | c.465 others(37): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46298434 | C | CTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 1 | 171 | 0.0058 | 24 | c.*35 others(35): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 2695 | chr21 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46326637 | G | GATTTCTA others(17): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 1 | 376 | 0.0027 | 24 | c.-39 others(35): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 2768 | chr21 | TogoVar | |||||||
C21orf62_chr21_32785673_32818703 | 32804275 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0265 | 1 | 70 | 0.0143 | 24 | c.-65 others(41): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
C21orf62_chr21_32785673_32818703 | 32809275 | C | CCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0007 a0001c0001t0001g0137 a0001c0001t0001g0161 others(5): Show |
9 | 217 | 0.0415 | 24 | c.-14 others(43): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147884 | G | GTATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0073 | 1 | 347 | 0.0029 | 24 | c.*16 others(35): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1121 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0025 | 1 | 114 | 0.0088 | 24 | c.*16 others(35): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41908243 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01255.hp1 HG01496.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0025 a0001c0001t0002g0011 a0001c0001t0002g0342 others(12): Show |
15 | 128 | 0.1172 | 24 | c.101 others(41): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCC others(17): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0339 | 1 | 239 | 0.0042 | 24 | c.280 others(41): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02486.hp1 HG06807.hp2 others(2): Show |
a0001a0002 | a0001c0004a0001c0006a0002c0012 | a0001c0004t0024a0001c0006t0034a0002c0012t0009others(1): Show | a0001c0004t0024g0286 a0001c0006t0034g0289 a0002c0012t0009g0062 others(2): Show |
5 | 243 | 0.0206 | 24 | c.280 others(41): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02886.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0007a0001c0033others(1): Show | a0001c0003t0005a0001c0007t0001a0001c0007t0012others(2): Show | a0001c0003t0005g0263 a0001c0007t0001g0231 a0001c0007t0012g0230 others(2): Show |
5 | 120 | 0.0417 | 24 | c.280 others(41): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01358.hp1 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0011 a0001c0001t0002g0183 a0001c0001t0002g0301 others(23): Show |
26 | 141 | 0.1844 | 24 | c.280 others(41): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947139 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG04115.hp2 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0006a0002c0010t0031 | a0001c0001t0006g0277 a0002c0010t0031g0278 |
2 | 390 | 0.0051 | 24 | c.280 others(41): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117361 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01361.hp2 |
a0002a0018 | a0002c0003a0018c0029 | a0002c0003t0001a0018c0029t0001 | a0002c0003t0001g0201 a0018c0029t0001g0198 |
2 | 21 | 0.0952 | 24 | c.152 others(41): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74146747 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02647.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0090 a0002c0003t0001g0210 |
2 | 88 | 0.0227 | 24 | c.484 others(41): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74151305 | C | CTTTATTT others(17): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0317 | 1 | 277 | 0.0036 | 24 | c.483 others(43): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2orf16_chr2_27532386_27587722 | 27558924 | G | GGAGGGAG others(17): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0026 | a0026c0039 | a0026c0039t0001 | a0026c0039t0001g0299 | 1 | 210 | 0.0048 | 24 | c.145 others(41): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf16_chr2_27532386_27587722 | 27581795 | C | CCATCACA others(17): Show |
disruptive_inframe_insertion | MODERATE | HG06807.hp2 | a0040 | a0040c0032 | a0040c0032t0001 | a0040c0032t0001g0218 | 1 | 322 | 0.0031 | 24 | c.154 others(35): Show |
p.Arg others(15): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 5/5 | 15524/16403 | 15483/16167 | 5161/5388 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
C2orf50_chr2_11128128_11156317 | 11155310 | G | GGGGCGGG others(17): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0031 a0001c0001t0027g0108 |
2 | 378 | 0.0053 | 24 | c.*11 others(37): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 3994 | chr2 | TogoVar | |||||||
C2orf69_chr2_199906293_199933273 | 199922029 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 389 | 0.0026 | 24 | c.334 others(41): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf69_chr2_199906293_199933273 | 199922031 | T | TCATATAT others(17): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 2 | 64 | 0.0313 | 24 | c.334 others(41): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
C2orf69_chr2_199906293_199933273 | 199922031 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG01169.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0053 a0001c0001t0001g0121 a0001c0001t0001g0129 others(19): Show |
35 | 97 | 0.3608 | 24 | c.334 others(41): 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(17): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0086 | 1 | 178 | 0.0056 | 24 | c.749 others(41): Show |
C2orf72 | ENSG00000204128.6 | transcript | ENST00000373640.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf76_chr2_119297225_119371834 | 119329409 | A | AATTAAAA others(17): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0147 | 1 | 352 | 0.0028 | 24 | c.134 others(41): Show |
C2orf76 | ENSG00000186132.15 | transcript | ENST00000334816.12 | protein_coding | 2/5 | chr2 | TogoVar |