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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL18A1_chr21_45400165_45518720 | 45405030 | C | CCCCCTGC others(4): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0191 a0001c0003t0001g0192 |
2 | 278 | 0.0072 | 11 | c.-20 others(20): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 134 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45405086 | C | CCCCGCCC others(4): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG03540.hp1 |
a0001 | a0001c0054a0001c0071 | a0001c0054t0002a0001c0071t0004 | a0001c0054t0002g0169 a0001c0071t0004g0168 |
2 | 256 | 0.0078 | 11 | c.-14 others(20): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 78 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45405319 | C | CTGGGTCC others(4): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02258.hp2 HG02280.hp1 others(6): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0016others(6): Show | a0001c0001t0001g0186 a0001c0002t0002g0175 a0001c0003t0016g0185 others(6): Show |
9 | 288 | 0.0313 | 11 | c.12- others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45485149 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01106.hp1 others(1): Show |
a0001 | a0001c0004a0001c0025 | a0001c0004t0001a0001c0025t0002 | a0001c0004t0001g0008 a0001c0004t0001g0063 a0001c0004t0001g0064 others(1): Show |
4 | 121 | 0.0331 | 11 | c.170 others(30): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69896543 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0107 | 1 | 21 | 0.0476 | 11 | c.92- others(26): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921411 | C | CATATATA others(4): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0012 | a0012c0023 | a0012c0023t0042 | a0012c0023t0042g0095 | 1 | 158 | 0.0063 | 11 | c.267 others(28): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70215912 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0007 | a0007c0014 | a0007c0014t0023 | a0007c0014t0023g0110 | 1 | 68 | 0.0147 | 11 | c.*86 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 3445 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138726498 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03579.hp2 |
a0001 | a0001c0008a0001c0017 | a0001c0008t0002a0001c0017t0007 | a0001c0008t0002g0134 a0001c0017t0007g0149 |
2 | 66 | 0.0303 | 11 | c.214 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138809528 | C | CTTTTTCT others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG03486.hp1 |
a0001a0002 | a0001c0008a0001c0046a0002c0005 | a0001c0008t0002a0001c0046t0001a0002c0005t0002 | a0001c0008t0002g0088 a0001c0046t0001g0093 a0002c0005t0002g0048 |
3 | 53 | 0.0566 | 11 | c.145 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 9/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138902737 | T | TAATATAC others(4): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 84 | 0.0119 | 11 | c.-73 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138902737 | T | TAATATAT others(4): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0024 | a0001c0024t0004 | a0001c0024t0004g0137 | 1 | 84 | 0.0119 | 11 | c.-73 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138902737 | T | TAATATAT others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01081.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0003a0001c0002t0001a0001c0006t0002others(11): Show | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0002t0001g0017 others(12): Show |
15 | 98 | 0.1531 | 11 | c.-73 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178282052 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01934.hp2 HG01978.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0189 a0001c0001t0003g0116 a0001c0001t0003g0182 others(17): Show |
20 | 156 | 0.1282 | 11 | c.441 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 5/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178346039 | A | ATAAACTT others(4): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0165 |
2 | 236 | 0.0085 | 11 | c.362 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178403108 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG01261.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0091 a0001c0001t0001g0199 a0001c0001t0002g0175 others(15): Show |
18 | 186 | 0.0968 | 11 | c.362 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178547742 | C | CCCCCACA others(4): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0008 | a0008c0015 | a0008c0015t0002 | a0008c0015t0002g0109 | 1 | 236 | 0.0042 | 11 | c.361 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178547888 | C | CGCACACT others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG03098.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0003a0001c0005t0002a0002c0003t0001others(2): Show | a0001c0001t0003g0169 a0001c0005t0002g0120 a0002c0003t0001g0129 others(2): Show |
5 | 236 | 0.0212 | 11 | c.361 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178562733 | T | TGGGGGCG others(4): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 215 | 0.0047 | 11 | c.295 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178562733 | T | TGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02572.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0005 | a0001c0001t0005g0144 a0002c0003t0005g0115 |
2 | 216 | 0.0093 | 11 | c.295 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178562736 | T | TGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0002 | a0001c0001t0005g0009 a0002c0003t0002g0112 |
2 | 171 | 0.0117 | 11 | c.295 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178562736 | T | TGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0212 a0001c0001t0006g0230 |
2 | 171 | 0.0117 | 11 | c.295 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178562736 | T | TGGTGGGC others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 170 | 0.0059 | 11 | c.295 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178572072 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02970.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0005a0004c0006t0003 | a0001c0001t0005g0216 a0004c0006t0003g0062 |
2 | 119 | 0.0168 | 11 | c.295 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85740953 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02647.hp1 others(3): Show |
a0002a0003a0009others(3): Show | a0002c0019a0003c0011a0009c0042others(3): Show | a0002c0019t0003a0003c0011t0003a0009c0042t0003others(3): Show | a0002c0019t0003g0066 a0003c0011t0003g0213 a0009c0042t0003g0111 others(3): Show |
6 | 37 | 0.1622 | 11 | c.467 others(30): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 57/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85879246 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0007 | a0007c0010 | a0007c0010t0004 | a0007c0010t0004g0149 | 1 | 116 | 0.0086 | 11 | c.297 others(30): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 32/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85885397 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18522.hp2 |
a0020a0041 | a0020c0022a0041c0057 | a0020c0022t0003a0041c0057t0003 | a0020c0022t0003g0017 a0041c0057t0003g0083 |
2 | 40 | 0.0500 | 11 | c.297 others(30): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 32/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85885397 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02818.hp2 |
a0001a0020 | a0001c0001a0020c0022 | a0001c0001t0001a0020c0022t0011 | a0001c0001t0001g0038 a0020c0022t0011g0018 |
2 | 40 | 0.0500 | 11 | c.297 others(30): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 32/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0004 | a0004c0071 | a0004c0071t0001 | a0004c0071t0001g0152 | 1 | 30 | 0.0333 | 11 | c.277 others(28): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85945000 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0002 | a0004c0002t0007 | a0004c0002t0007g0002 | 1 | 198 | 0.0051 | 11 | c.256 others(32): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997041 | A | AGTGTGTG others(4): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0022 | a0022c0033 | a0022c0033t0001 | a0022c0033t0001g0231 | 1 | 156 | 0.0064 | 11 | c.231 others(30): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108807839 | T | TATATATA others(4): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 HG03492.hp2 HG03704.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0004t0029 | a0001c0001t0002g0056 a0001c0001t0002g0087 a0001c0001t0003g0019 others(1): Show |
4 | 86 | 0.0465 | 11 | c.*60 others(22): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 885 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108822043 | A | ATTTCTTT others(4): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 38 | 0.0263 | 11 | c.184 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 35/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108822043 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02630.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0026others(1): Show | a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0006g0077 others(2): Show |
5 | 42 | 0.1190 | 11 | c.184 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 35/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108868548 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(111): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0062 others(111): Show |
114 | 130 | 0.8769 | 11 | c.108 others(28): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 20/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108869222 | A | AAATAAAT others(4): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0103 | 1 | 119 | 0.0084 | 11 | c.102 others(26): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 19/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108886478 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0070 | 1 | 124 | 0.0081 | 11 | c.976 others(28): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 18/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109093466 | A | ACAAAACA others(4): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 130 | 0.0077 | 11 | c.368 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109093472 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0104 a0001c0002t0005g0112 |
2 | 115 | 0.0174 | 11 | c.368 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254469 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 37 | 0.0270 | 11 | c.367 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101387768 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01515.hp1 |
a0001a0002 | a0001c0008a0002c0003 | a0001c0008t0007a0002c0003t0001 | a0001c0008t0007g0129 a0002c0003t0001g0155 |
2 | 164 | 0.0122 | 11 | c.158 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101387770 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0157 | 1 | 160 | 0.0063 | 11 | c.158 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101387778 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 4 | 0.2500 | 11 | c.158 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101387778 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0148 a0002c0003t0001g0158 |
2 | 5 | 0.4000 | 11 | c.158 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101397494 | C | CTCCTTCT others(4): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0004 | a0002c0004t0030 | a0002c0004t0030g0142 | 1 | 172 | 0.0058 | 11 | c.159 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101439553 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02109.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(5): Show | a0001c0001t0002g0131 a0001c0001t0009g0118 a0001c0001t0011g0130 others(7): Show |
10 | 30 | 0.3333 | 11 | c.282 others(28): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101476512 | G | GGTTGGTT others(4): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0100 | 1 | 172 | 0.0058 | 11 | c.385 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489779 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 166 | 0.0060 | 11 | c.385 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114166401 | A | ATCCATCC others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0044 | a0002c0044t0007 | a0002c0044t0007g0103 | 1 | 306 | 0.0033 | 11 | c.134 others(28): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | chr9 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7400975 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0021 | a0021c0022 | a0021c0022t0001 | a0021c0022t0001g0163 | 1 | 24 | 0.0417 | 11 | c.213 others(32): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7522806 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18906.hp2 NA19084.hp2 |
a0003a0015a0016 | a0003c0003a0015c0052a0016c0017 | a0003c0003t0002a0015c0052t0001a0016c0017t0001 | a0003c0003t0002g0083 a0015c0052t0001g0191 a0016c0017t0001g0057 |
3 | 12 | 0.2500 | 11 | c.703 others(26): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 4/34 | chr7 | TogoVar |