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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A6_chrX_108150614_108443422 | 108377941 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0015 | 1 | 115 | 0.0087 | 19 | c.63+ others(36): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134773069 | C | CTGCCCAT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(106): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0002g0023 others(105): Show |
109 | 270 | 0.4037 | 19 | c.233 others(36): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 26/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134826654 | C | CTGGTGTG others(12): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01884.hp2 others(8): Show |
a0001a0014 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0007a0001c0003t0003a0001c0003t0004others(8): Show | a0001c0001t0007g0215 a0001c0003t0003g0255 a0001c0003t0004g0266 others(8): Show |
11 | 183 | 0.0601 | 19 | c.506 others(36): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 63/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189059585 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02145.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0102 a0001c0001t0001g0159 others(1): Show |
4 | 40 | 0.1000 | 19 | c.208 others(36): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9970441 | T | TGGAGTGA others(12): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00733.hp1 others(59): Show |
a0002a0016a0020others(11): Show | a0002c0002a0002c0020a0002c0034others(24): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(31): Show | a0002c0002t0001g0071 a0002c0002t0001g0339 a0002c0002t0001g0341 others(59): Show |
62 | 382 | 0.1623 | 19 | c.393 others(36): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9988855 | A | AAAAAGAG others(12): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0018 | a0018c0026 | a0018c0026t0002 | a0018c0026t0002g0291 | 1 | 223 | 0.0045 | 19 | c.214 others(36): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 27/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45978630 | T | TTACAATC others(12): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 126 | 0.0079 | 19 | c.-32 others(30): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3139 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981685 | T | TCCCGCCC others(12): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0015 | a0015c0036 | a0015c0036t0005 | a0015c0036t0005g0083 | 1 | 69 | 0.0145 | 19 | c.-16 others(28): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 84 | chr21 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237332117 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG02083.hp1 others(7): Show |
a0001a0006a0013others(3): Show | a0001c0002a0001c0004a0006c0007others(4): Show | a0001c0002t0001a0001c0004t0001a0006c0007t0001others(4): Show | a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0004t0001g0151 others(7): Show |
10 | 82 | 0.1220 | 19 | c.932 others(38): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130637111 | T | TCCCCCTC others(12): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0228 | 1 | 261 | 0.0038 | 19 | c.509 others(38): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99678582 | T | TTTGTTGT others(12): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(44): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 others(44): Show |
47 | 259 | 0.1815 | 19 | c.-12 others(40): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99773835 | A | ATTATATA others(12): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 239 | 0.0042 | 19 | c.-3- others(36): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 142 | 0.0070 | 19 | c.-3- others(36): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 142 | 0.0070 | 19 | c.-3- others(36): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70227424 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG03209.hp1 |
a0002 | a0002c0008 | a0002c0008t0005 | a0002c0008t0005g0330 a0002c0008t0005g0331 a0002c0008t0005g0336 |
3 | 163 | 0.0184 | 19 | c.250 others(38): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 36/37 | chr6 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40303762 | T | TGGGGCCG others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01069.hp1 others(61): Show |
a0001a0004a0009others(3): Show | a0001c0005a0001c0028a0004c0004others(4): Show | a0001c0005t0001a0001c0028t0001a0004c0004t0001others(6): Show | a0001c0005t0001g0005 a0001c0005t0001g0045 a0001c0005t0001g0046 others(32): Show |
64 | 436 | 0.1468 | 19 | c.140 others(34): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 27/31 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 129 | 0.0078 | 19 | c.-11 others(30): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321122 | A | AATTATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0057 | 1 | 262 | 0.0038 | 19 | c.-39 others(30): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321167 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 429 | 0.0023 | 19 | c.-39 others(30): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3882 | chr1 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02273.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0141 |
3 | 243 | 0.0123 | 19 | c.148 others(36): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02083.hp2 HG03710.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0002g0193 others(2): Show |
5 | 245 | 0.0204 | 19 | c.148 others(36): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0131 a0001c0001t0002g0176 |
2 | 242 | 0.0083 | 19 | c.148 others(36): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 241 | 0.0041 | 19 | c.148 others(36): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119112788 | T | TAAAAATC others(12): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 95 | 0.0105 | 19 | c.*65 others(30): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 4334 | chr8 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3635072 | T | TCCCTCTC others(12): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02004.hp2 HG04199.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0169 a0002c0003t0001g0221 a0002c0003t0001g0231 others(1): Show |
4 | 376 | 0.0106 | 19 | c.203 others(36): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319341 | A | AAAAATAT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0002 | a0003c0002t0162 | a0003c0002t0162g0119 | 1 | 225 | 0.0044 | 19 | c.*70 others(28): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 703 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 502327 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG03209.hp2 others(1): Show |
a0001a0003 | a0001c0003a0003c0002 | a0001c0003t0058a0003c0002t0066a0003c0002t0163others(1): Show | a0001c0003t0058g0355 a0003c0002t0066g0079 a0003c0002t0163g0330 others(1): Show |
4 | 341 | 0.0117 | 19 | c.-18 others(30): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1627 | chr18 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32737379 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 173 | 0.0058 | 19 | c.84+ others(34): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
COMTD1_chr10_75228641_75240957 | 75232740 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG03139.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 81 | 0.0370 | 19 | c.*13 others(30): Show |
COMTD1 | ENSG00000165644.11 | transcript | ENST00000372538.8 | protein_coding | 900 | chr10 | TogoVar | |||||||
COMT_chr22_19936772_19974975 | 19969452 | T | TGTAGTTG others(12): Show |
3_prime_UTR_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0001 | a0002c0001t0026 | a0002c0001t0026g0148 | 1 | 424 | 0.0024 | 19 | c.*73 others(28): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 6/6 | 732 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
COP1_chr1_175939831_176212286 | 176171675 | C | CTTTGTTA others(12): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 298 | 0.0034 | 19 | c.565 others(36): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 3/19 | chr1 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14454637 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG03516.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0304 |
3 | 98 | 0.0306 | 19 | c.*31 others(30): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 2874 | chr11 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14477389 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02056.hp2 HG02083.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0218 a0001c0001t0001g0284 others(10): Show |
13 | 22 | 0.5909 | 19 | c.135 others(36): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 11/21 | chr11 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18905008 | A | ACCTGCCC others(12): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0094 | 1 | 328 | 0.0030 | 19 | c.498 others(34): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 5/9 | chr19 | TogoVar | |||||||
COQ5_chr12_120498279_120534158 | 120526698 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0316 | 1 | 19 | 0.0526 | 19 | c.202 others(36): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
COQ7_chr16_19062614_19085095 | 19064374 | T | TGTGTGTG others(12): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 NA19062.hp1 |
a0002a0008 | a0002c0003a0008c0007 | a0002c0003t0002a0008c0007t0002 | a0002c0003t0002g0055 a0008c0007t0002g0006 |
2 | 366 | 0.0055 | 19 | c.-32 others(30): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3239 | chr16 | TogoVar | |||||||
COQ7_chr16_19062614_19085095 | 19077590 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02109.hp1 HG02145.hp2 others(9): Show |
a0002a0006 | a0002c0002a0006c0011 | a0002c0002t0003a0002c0002t0008a0006c0011t0003 | a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0072 others(7): Show |
12 | 59 | 0.2034 | 19 | c.576 others(34): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COQ8B_chr19_40686530_40721886 | 40708698 | A | AGGGAGGA others(12): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0346 | 1 | 408 | 0.0025 | 19 | c.367 others(36): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 5/14 | chr19 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47632753 | A | AGATAGAT others(12): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02895.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0001 | a0001c0001t0001g0086 a0001c0001t0006g0049 a0001c0001t0006g0050 others(2): Show |
5 | 254 | 0.0197 | 19 | c.219 others(38): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47632757 | A | AGATAGAT others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01891.hp2 HG02723.hp1 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0013others(1): Show | a0001c0001t0003a0002c0003t0003a0005c0013t0001others(1): Show | a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0033 others(12): Show |
15 | 219 | 0.0685 | 19 | c.219 others(38): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47841054 | G | GTGGAGCT others(12): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02922.hp1 HG03098.hp2 others(3): Show |
a0002a0008 | a0002c0003a0002c0008a0008c0012 | a0002c0003t0001a0002c0008t0001a0008c0012t0001 | a0002c0003t0001g0220 a0002c0003t0001g0223 a0002c0008t0001g0221 others(3): Show |
6 | 262 | 0.0229 | 19 | c.-31 others(30): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 2988 | chr4 | TogoVar | |||||||
CORO1C_chr12_108640109_108736518 | 108652845 | T | TCACAGAC others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(265): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(260): Show |
268 | 324 | 0.8272 | 19 | c.856 others(34): Show |
CORO1C | ENSG00000110880.11 | transcript | ENST00000261401.8 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98119798 | G | GTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 HG03471.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0055 a0001c0001t0003g0146 a0001c0001t0003g0152 others(2): Show |
5 | 242 | 0.0207 | 19 | c.*49 others(30): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1176 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98119802 | G | GTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 192 | 0.0052 | 19 | c.*49 others(30): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1172 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98154331 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 296 | 0.0034 | 19 | c.201 others(36): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
COX16_chr14_70320081_70364683 | 70328072 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18978.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 a0001c0001t0002g0174 a0001c0001t0002g0178 |
3 | 39 | 0.0769 | 19 | c.204 others(36): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 85 | 0.0118 | 19 | c.434 others(34): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0080 |
2 | 86 | 0.0233 | 19 | c.434 others(34): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0002t0002a0002c0006t0007 | a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0002t0002g0170 others(1): Show |
7 | 91 | 0.0769 | 19 | c.434 others(34): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX4I2_chr20_31632912_31650006 | 31633906 | T | TAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0045 a0002c0002t0001g0048 |
2 | 167 | 0.0120 | 19 | c.-40 others(30): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 4005 | chr20 | TogoVar |