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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL18A1_chr21_45400165_45518720 | 45476845 | TGTGTA | T | intron_variant | MODIFIER | HG01258.hp2 HG01346.hp2 HG02451.hp2 others(6): Show |
a0001a0008 | a0001c0003a0001c0022a0001c0038others(2): Show | a0001c0003t0001a0001c0022t0001a0001c0038t0004others(2): Show | a0001c0003t0001g0110a0001c0003t0001g0287a0001c0022t0001g0008others(6): Show | 9 | 292 | 0.0308 | -5 | c.928 others(20): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 6/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45490017 | CACCCT | C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02723.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0027a0001c0037others(2): Show | a0001c0001t0001a0001c0027t0001a0001c0037t0001others(2): Show | a0001c0001t0001g0191a0001c0027t0001g0019a0001c0027t0001g0020others(3): Show | 6 | 292 | 0.0206 | -5 | c.196 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45503276 | GATGGT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(121): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0012others(53): Show | a0001c0001t0001g0031a0001c0001t0001g0052a0001c0001t0001g0127others(121): Show | 124 | 292 | 0.4247 | -5 | c.268 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45517648 | GCCTGT | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(172): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0003others(63): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(68): Show | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0033others(172): Show | 175 | 292 | 0.5993 | -5 | c.*52 others(16): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 3929 | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921127 | TGTATC | T | intron_variant | MODIFIER | HG03225.hp1 HG04184.hp1 HG06807.hp2 |
a0002 | a0002c0003a0002c0004a0002c0006 | a0002c0003t0020a0002c0004t0001a0002c0006t0003 | a0002c0003t0020g0071a0002c0004t0001g0068a0002c0006t0003g0094 | 3 | 182 | 0.0165 | -5 | c.267 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921251 | TATATC | T | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0006a0002c0009 | a0002c0006t0003a0002c0009t0004 | a0002c0006t0003g0065a0002c0006t0003g0066a0002c0009t0004g0168 | 3 | 182 | 0.0165 | -5 | c.267 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69926397 | TAAAGA | T | intron_variant | MODIFIER | HG03225.hp1 HG04184.hp1 HG06807.hp2 |
a0002 | a0002c0003a0002c0004a0002c0006 | a0002c0003t0020a0002c0004t0001a0002c0006t0003 | a0002c0003t0020g0071a0002c0004t0001g0068a0002c0006t0003g0094 | 3 | 182 | 0.0165 | -5 | c.267 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69978123 | TGAGAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(16): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0041a0001c0002t0002others(10): Show | a0001c0001t0001g0016a0001c0001t0001g0135a0001c0001t0001g0167others(16): Show | 19 | 182 | 0.1044 | -5 | c.102 others(26): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69986914 | TTTGTG | T | intron_variant | MODIFIER | HG00408.hp1 NA18948.hp1 NA18966.hp1 others(3): Show |
a0002a0006 | a0002c0003a0002c0006a0002c0011others(1): Show | a0002c0003t0002a0002c0006t0003a0002c0006t0007others(2): Show | a0002c0003t0002g0100a0002c0003t0002g0103a0002c0006t0003g0098others(3): Show | 6 | 182 | 0.0330 | -5 | c.102 others(26): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70058673 | AATAAC | A | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02258.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0008t0004others(7): Show | a0001c0001t0001g0143a0001c0001t0006g0107a0001c0008t0004g0004others(11): Show | 14 | 182 | 0.0769 | -5 | c.117 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 14/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70077801 | ATAATG | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp2 others(60): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(33): Show | a0001c0001t0001g0047a0001c0001t0001g0062a0001c0001t0001g0077others(60): Show | 63 | 182 | 0.3462 | -5 | c.122 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 15/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70118840 | GGGAGC | G | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00741.hp1 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(26): Show | a0001c0001t0001g0016a0001c0001t0001g0047a0001c0001t0001g0053others(67): Show | 70 | 182 | 0.3846 | -5 | c.127 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 16/50 | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70202245 | ATTTTG | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00642.hp1 others(41): Show |
a0001a0002a0006others(1): Show | a0001c0005a0001c0007a0002c0006others(3): Show | a0001c0005t0003a0001c0005t0007a0001c0005t0010others(12): Show | a0001c0005t0003g0003a0001c0005t0003g0102a0001c0005t0003g0140others(41): Show | 44 | 182 | 0.2418 | -5 | c.322 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 49/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL1A2_chr7_94389895_94436227 | 94435083 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(15): Show | a0001c0001t0002g0002a0001c0001t0002g0054a0001c0001t0002g0059others(60): Show | 102 | 438 | 0.2329 | -5 | c.*46 others(16): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 3857 | chr7 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56082327 | ACAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01071.hp1 others(16): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0014others(5): Show | a0001c0001t0014a0001c0002t0002a0001c0014t0010others(6): Show | a0001c0001t0014g0087a0001c0002t0002g0197a0001c0014t0010g0010others(16): Show | 19 | 264 | 0.0720 | -5 | c.181 others(24): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56087061 | CTTTTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(136): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0013others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0102a0001c0001t0001g0110others(135): Show | 139 | 264 | 0.5265 | -5 | c.181 others(24): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56125011 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01192.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0014a0001c0002t0002a0001c0014t0010others(4): Show | a0001c0001t0014g0087a0001c0002t0002g0197a0001c0014t0010g0010others(13): Show | 16 | 264 | 0.0606 | -5 | c.165 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 14/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56125975 | GTTTAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01192.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0006 | a0001c0001t0014a0003c0005t0007a0003c0005t0014others(1): Show | a0001c0001t0014g0087a0003c0005t0007g0119a0003c0005t0007g0122others(10): Show | 13 | 264 | 0.0492 | -5 | c.159 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 13/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56166216 | GTTATA | G | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0101a0001c0001t0003g0078a0001c0001t0003g0086others(2): Show | 5 | 264 | 0.0189 | -5 | c.127 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 7/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138701875 | CTTAAT | C | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01255.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(5): Show | a0001c0001t0001a0001c0002t0003a0002c0004t0001others(6): Show | a0001c0001t0001g0101a0001c0001t0001g0124a0001c0002t0003g0009others(7): Show | 10 | 158 | 0.0633 | -5 | c.255 others(24): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 31/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138715568 | TTAAAA | T | intron_variant | MODIFIER | HG01070.hp1 HG02630.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0024a0001c0027a0001c0056others(1): Show | a0001c0024t0004a0001c0024t0016a0001c0027t0002others(2): Show | a0001c0024t0004g0136a0001c0024t0016g0158a0001c0027t0002g0022others(2): Show | 5 | 158 | 0.0317 | -5 | c.251 others(22): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 30/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138726498 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01884.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0010a0001c0012a0001c0017others(8): Show | a0001c0010t0007a0001c0012t0002a0001c0017t0005others(8): Show | a0001c0010t0007g0155a0001c0012t0002g0059a0001c0017t0005g0152others(8): Show | 11 | 158 | 0.0696 | -5 | c.214 others(24): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138879837 | TAAAAC | T | intron_variant | MODIFIER | HG00639.hp1 HG01261.hp1 HG01884.hp2 others(10): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0001c0010others(8): Show | a0001c0002t0002a0001c0008t0002a0001c0010t0001others(8): Show | a0001c0002t0002g0029a0001c0002t0002g0043a0001c0008t0002g0026others(10): Show | 13 | 158 | 0.0823 | -5 | c.92- others(20): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 2/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138884882 | CAGAAG | C | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01099.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(14): Show | a0001c0001t0001g0080a0001c0001t0003g0003a0001c0001t0003g0004others(16): Show | 19 | 158 | 0.1203 | -5 | c.-72 others(22): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178301962 | CTGTGT | C | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02922.hp2 others(1): Show |
a0002a0007a0008others(1): Show | a0002c0002a0007c0019a0008c0018others(1): Show | a0002c0002t0009a0007c0019t0005a0008c0018t0003others(1): Show | a0002c0002t0009g0225a0007c0019t0005g0160a0008c0018t0003g0215others(1): Show | 4 | 236 | 0.0170 | -5 | c.406 others(22): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178403122 | ATAAAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG02083.hp2 others(7): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0048a0001c0001t0003g0027a0001c0001t0004g0022others(7): Show | 10 | 236 | 0.0424 | -5 | c.362 others(24): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178420434 | CGCTCT | C | intron_variant | MODIFIER | HG01891.hp1 HG04199.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0002 | a0001c0001t0004g0174a0002c0003t0002g0112 | 2 | 236 | 0.0085 | -5 | c.362 others(26): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178517873 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01167.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0028a0001c0001t0002g0153a0001c0001t0002g0175others(21): Show | 24 | 236 | 0.1017 | -5 | c.361 others(24): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178539545 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0021others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0079a0001c0001t0002g0083a0001c0001t0002g0150others(62): Show | 65 | 236 | 0.2754 | -5 | c.361 others(24): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178556625 | TTAAAA | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01358.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0076a0001c0001t0004g0037a0001c0001t0004g0087others(7): Show | 10 | 236 | 0.0424 | -5 | c.361 others(22): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85766386 | AAAAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(75): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0002c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(38): Show | a0001c0001t0001g0119a0001c0001t0002g0155a0001c0001t0002g0158others(75): Show | 78 | 238 | 0.3277 | -5 | c.437 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85799379 | TAAAAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01496.hp2 NA18990.hp2 others(2): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0005a0006c0062others(2): Show | a0001c0001t0002a0001c0005t0003a0006c0062t0001others(2): Show | a0001c0001t0002g0161a0001c0005t0003g0060a0006c0062t0001g0094others(2): Show | 5 | 238 | 0.0210 | -5 | c.395 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85813532 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02559.hp1 others(7): Show |
a0001a0002a0004others(4): Show | a0001c0005a0002c0011a0004c0002others(4): Show | a0001c0005t0003a0002c0011t0003a0004c0002t0007others(4): Show | a0001c0005t0003g0207a0001c0005t0003g0224a0002c0011t0003g0213others(7): Show | 10 | 238 | 0.0420 | -5 | c.395 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85841100 | TCAAAC | T | intron_variant | MODIFIER | HG01993.hp2 HG02040.hp1 HG02735.hp1 others(5): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0002a0006c0028others(1): Show | a0001c0001t0003a0004c0002t0001a0004c0002t0002others(3): Show | a0001c0001t0003g0157a0004c0002t0001g0130a0004c0002t0002g0129others(5): Show | 8 | 238 | 0.0336 | -5 | c.362 others(22): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 42/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85860048 | GGAACC | G | intron_variant | MODIFIER | HG01884.hp1 HG02818.hp2 HG02970.hp1 others(1): Show |
a0017a0038a0045 | a0017c0022a0038c0057a0045c0068 | a0017c0022t0003a0017c0022t0011a0038c0057t0003others(1): Show | a0017c0022t0003g0017a0017c0022t0011g0018a0038c0057t0003g0083others(1): Show | 4 | 238 | 0.0168 | -5 | c.330 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85860058 | GGGATT | G | intron_variant | MODIFIER | HG01884.hp1 HG02818.hp2 HG02970.hp1 others(1): Show |
a0017a0038a0045 | a0017c0022a0038c0057a0045c0068 | a0017c0022t0003a0017c0022t0011a0038c0057t0003others(1): Show | a0017c0022t0003g0017a0017c0022t0011g0018a0038c0057t0003g0083others(1): Show | 4 | 238 | 0.0168 | -5 | c.330 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85881244 | TATCAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(234): Show |
a0001a0002a0003others(47): Show | a0001c0001a0001c0005a0001c0066others(75): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(113): Show | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0099others(234): Show | 237 | 238 | 0.9958 | -5 | c.297 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 32/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85933097 | AAAAAG | A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02572.hp1 others(3): Show |
a0002a0004a0049 | a0002c0003a0004c0002a0049c0074 | a0002c0003t0003a0002c0003t0004a0004c0002t0001others(1): Show | a0002c0003t0003g0147a0002c0003t0003g0210a0002c0003t0003g0225others(3): Show | 6 | 238 | 0.0252 | -5 | c.256 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85940531 | TTTATA | T | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01099.hp1 others(35): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0003a0003c0016others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0159a0001c0001t0001g0193a0001c0001t0002g0092others(35): Show | 38 | 238 | 0.1597 | -5 | c.256 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85991884 | CTTGTA | C | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG01358.hp2 |
a0001a0002 | a0001c0005a0002c0011 | a0001c0005t0002a0002c0011t0002 | a0001c0005t0002g0186a0001c0005t0002g0195a0002c0011t0002g0042 | 3 | 238 | 0.0126 | -5 | c.231 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85999631 | ATAAAG | A | intron_variant | MODIFIER | HG02056.hp2 HG03927.hp2 |
a0001a0003 | a0001c0001a0003c0056 | a0001c0001t0001a0003c0056t0001 | a0001c0001t0001g0136a0003c0056t0001g0089 | 2 | 238 | 0.0084 | -5 | c.231 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86033657 | ATTAAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 |
a0002a0045 | a0002c0003a0045c0068 | a0002c0003t0004a0045c0068t0003 | a0002c0003t0004g0131a0045c0068t0003g0168 | 2 | 238 | 0.0084 | -5 | c.200 others(22): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 13/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86064929 | TACATA | T | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp2 HG01981.hp1 others(6): Show |
a0002a0004a0006others(5): Show | a0002c0003a0004c0002a0006c0063others(5): Show | a0002c0003t0002a0004c0002t0001a0006c0063t0002others(5): Show | a0002c0003t0002g0141a0004c0002t0001g0154a0006c0063t0002g0233others(6): Show | 9 | 238 | 0.0378 | -5 | c.170 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 7/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86087184 | TATAAG | T | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01981.hp2 others(7): Show |
a0001a0004a0008others(3): Show | a0001c0001a0001c0005a0004c0002others(4): Show | a0001c0001t0002a0001c0005t0003a0004c0002t0002others(6): Show | a0001c0001t0002g0155a0001c0001t0002g0205a0001c0005t0003g0060others(7): Show | 10 | 238 | 0.0420 | -5 | c.170 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 7/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86097377 | TTCTTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(43): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0005a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0159others(43): Show | 46 | 238 | 0.1933 | -5 | c.160 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86108620 | TAAAAA | T | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01106.hp2 others(10): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0002c0003others(6): Show | a0001c0001t0002a0001c0005t0003a0002c0003t0001others(7): Show | a0001c0001t0002g0155a0001c0001t0002g0205a0001c0005t0003g0218others(10): Show | 13 | 238 | 0.0546 | -5 | c.159 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86115940 | TATAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp2 others(24): Show |
a0003a0006a0013others(4): Show | a0003c0007a0003c0027a0003c0056others(10): Show | a0003c0007t0001a0003c0007t0002a0003c0007t0003others(15): Show | a0003c0007t0001g0075a0003c0007t0002g0076a0003c0007t0002g0079others(24): Show | 27 | 238 | 0.1135 | -5 | c.149 others(22): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 3/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86160630 | TATTAA | T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG02257.hp2 others(16): Show |
a0009a0015a0016others(6): Show | a0009c0008a0009c0042a0009c0044others(8): Show | a0009c0008t0001a0009c0008t0002a0009c0008t0014others(11): Show | a0009c0008t0001g0101a0009c0008t0002g0102a0009c0008t0002g0104others(16): Show | 19 | 238 | 0.0798 | -5 | c.-42 others(16): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 3859 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108869217 | TAAATA | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00639.hp1 others(46): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0081a0001c0001t0001g0114a0001c0001t0001g0121others(46): Show | 49 | 130 | 0.3769 | -5 | c.102 others(20): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 19/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108911436 | TTTTCA | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00735.hp2 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0037a0001c0001t0001g0069a0001c0001t0001g0081others(42): Show | 45 | 130 | 0.3462 | -5 | c.780 others(22): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 13/37 | chr4 | TogoVar |