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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL13A1_chr10_69796906_69964144 | 69858115 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 |
a0001a0003 | a0001c0001a0003c0015 | a0001c0001t0001a0003c0015t0011 | a0001c0001t0001g0060a0003c0015t0011g0114 | 2 | 324 | 0.0062 | 11 | c.365 others(28): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120166922 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003 | 1 | 218 | 0.0046 | 11 | c.350 others(28): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120224023 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0216 | 1 | 218 | 0.0046 | 11 | c.173 others(30): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31707389 | C | CTTTTCTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02040.hp1 NA18945.hp1 others(4): Show |
a0001a0013 | a0001c0001a0001c0003a0013c0019 | a0001c0001t0001a0001c0003t0002a0013c0019t0001 | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0026others(4): Show | 7 | 342 | 0.0205 | 11 | c.-35 others(22): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3373 | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45405030 | C | CCCCCTGC others(4): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0025a0001c0004t0001g0026 | 2 | 292 | 0.0069 | 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 | a0001c0054a0001c0074 | a0001c0054t0002a0001c0074t0004 | a0001c0054t0002g0201a0001c0074t0004g0200 | 2 | 292 | 0.0069 | 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 |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0052a0001c0002t0002g0047a0001c0003t0001g0048others(6): Show | 9 | 292 | 0.0308 | 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 | a0001c0003a0001c0025 | a0001c0003t0001a0001c0025t0002 | a0001c0003t0001g0005a0001c0003t0001g0085a0001c0003t0001g0086others(1): Show | 4 | 292 | 0.0137 | 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 | 182 | 0.0055 | 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 | a0006 | a0006c0023 | a0006c0023t0042 | a0006c0023t0042g0095 | 1 | 182 | 0.0055 | 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 | a0011 | a0011c0014 | a0011c0014t0023 | a0011c0014t0023g0110 | 1 | 182 | 0.0055 | 11 | c.*86 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 3445 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138652735 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0063 | 1 | 158 | 0.0063 | 11 | c.333 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138726498 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03579.hp2 |
a0001 | a0001c0008a0001c0017 | a0001c0008t0002a0001c0017t0007 | a0001c0008t0002g0133a0001c0017t0007g0147 | 2 | 158 | 0.0127 | 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 | a0001c0008t0002g0093a0001c0046t0001g0087a0002c0005t0002g0047 | 3 | 158 | 0.0190 | 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 | a0001c0001t0001g0080 | 1 | 158 | 0.0063 | 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 | a0001c0024t0004g0136 | 1 | 158 | 0.0063 | 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 | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0002t0001g0016others(12): Show | 15 | 158 | 0.0949 | 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 | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0189a0001c0001t0003g0116a0001c0001t0003g0182others(17): Show | 20 | 236 | 0.0848 | 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 | a0001c0001t0002g0028a0001c0001t0002g0165 | 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 | a0001c0001t0001g0076a0001c0001t0001g0199a0001c0001t0002g0175others(15): Show | 18 | 236 | 0.0763 | 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 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0108 | 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 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0003a0001c0004t0002a0002c0003t0001others(2): Show | a0001c0001t0003g0170a0001c0004t0002g0120a0002c0003t0001g0129others(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 | 236 | 0.0042 | 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 | a0001c0001t0005g0144a0002c0003t0005g0115 | 2 | 236 | 0.0085 | 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 | a0001c0001t0005g0009a0002c0003t0002g0112 | 2 | 236 | 0.0085 | 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 | a0001c0001t0003g0212a0001c0001t0006g0230 | 2 | 236 | 0.0085 | 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 | 236 | 0.0042 | 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 | a0001c0001t0005g0216a0004c0006t0003g0062 | 2 | 236 | 0.0085 | 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 | a0002c0011a0003c0019a0009c0042others(3): Show | a0002c0011t0003a0003c0019t0003a0009c0042t0003others(3): Show | a0002c0011t0003g0213a0003c0019t0003g0067a0009c0042t0003g0111others(3): Show | 6 | 238 | 0.0252 | 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 | 238 | 0.0042 | 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 |
a0017a0038 | a0017c0022a0038c0057 | a0017c0022t0003a0038c0057t0003 | a0017c0022t0003g0017a0038c0057t0003g0083 | 2 | 238 | 0.0084 | 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 |
a0001a0017 | a0001c0001a0017c0022 | a0001c0001t0001a0017c0022t0011 | a0001c0001t0001g0038a0017c0022t0011g0018 | 2 | 238 | 0.0084 | 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 | 238 | 0.0042 | 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 | 238 | 0.0042 | 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 | a0025 | a0025c0033 | a0025c0033t0001 | a0025c0033t0001g0231 | 1 | 238 | 0.0042 | 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 | a0001c0001t0002g0054a0001c0001t0002g0085a0001c0001t0003g0021others(1): Show | 4 | 130 | 0.0308 | 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 | 130 | 0.0077 | 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 | a0001c0001t0001g0069a0001c0001t0001g0079a0001c0001t0006g0076others(2): Show | 5 | 130 | 0.0385 | 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 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0062others(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 | a0001c0009t0002g0097 | 1 | 130 | 0.0077 | 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 | 130 | 0.0077 | 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 | a0001c0002t0001g0098a0001c0002t0005g0112 | 2 | 130 | 0.0154 | 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 | 130 | 0.0077 | 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 | a0001c0008t0007g0121a0002c0003t0001g0140 | 2 | 174 | 0.0115 | 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 | a0001c0001t0014g0142 | 1 | 174 | 0.0058 | 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 | a0001c0001t0002g0151 | 1 | 174 | 0.0058 | 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 | a0002c0003t0001g0130a0002c0003t0001g0143 | 2 | 174 | 0.0115 | 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 | a0002c0004t0030g0170 | 1 | 174 | 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 | a0001c0001t0002g0122a0001c0001t0009g0159a0001c0001t0011g0120others(7): Show | 10 | 174 | 0.0575 | 11 | c.282 others(28): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |