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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL14A1_chr8_120120102_120378573 | 120191486 | A | AGGTGT | intron_variant | MODIFIER | HG00408.hp2 HG02132.hp2 NA18954.hp2 others(1): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0002a0003c0004t0001 | a0001c0003t0002g0168a0003c0004t0001g0167a0003c0004t0001g0169others(1): Show | 4 | 218 | 0.0184 | 5 | c.437 others(22): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120229089 | T | TTTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(98): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0015others(98): Show | 101 | 218 | 0.4633 | 5 | c.219 others(22): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 18/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120248917 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01071.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0086a0001c0001t0001g0117a0001c0001t0001g0134others(20): Show | 23 | 218 | 0.1055 | 5 | c.260 others(24): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 21/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120298597 | T | TATATA | intron_variant | MODIFIER | NA19062.hp1 NA19062.hp2 |
a0001a0002 | a0001c0015a0002c0002 | a0001c0015t0003a0002c0002t0001 | a0001c0015t0003g0096a0002c0002t0001g0164 | 2 | 218 | 0.0092 | 5 | c.431 others(24): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 35/47 | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98950544 | C | CCCCTT | intron_variant | MODIFIER | NA18747.hp2 NA18983.hp1 NA18984.hp1 others(2): Show |
a0001a0004a0026 | a0001c0001a0001c0013a0004c0005others(1): Show | a0001c0001t0002a0001c0013t0001a0004c0005t0001others(1): Show | a0001c0001t0002g0014a0001c0001t0002g0016a0001c0013t0001g0015others(2): Show | 5 | 310 | 0.0161 | 5 | c.100 others(22): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99011423 | A | AAAAAC | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01109.hp1 others(30): Show |
a0002a0003a0004others(11): Show | a0002c0003a0002c0010a0003c0004others(16): Show | a0002c0003t0002a0002c0010t0009a0003c0004t0002others(16): Show | a0002c0003t0002g0193a0002c0010t0009g0204a0003c0004t0002g0275others(30): Show | 33 | 310 | 0.1065 | 5 | c.135 others(24): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31707338 | C | CCTTTT | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02895.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0001c0016a0002c0004 | a0001c0001t0002a0001c0016t0002a0002c0004t0001 | a0001c0001t0002g0272a0001c0016t0002g0276a0002c0004t0001g0149 | 3 | 342 | 0.0088 | 5 | c.-35 others(16): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3322 | chr1 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104077699 | T | TTTTTG | intron_variant | MODIFIER | NA18955.hp2 NA18964.hp1 NA18992.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018a0002c0002t0002g0168a0002c0002t0002g0169others(1): Show | 5 | 336 | 0.0149 | 5 | c.98- others(18): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 3/55 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45459980 | G | GTAGCA | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp1 others(9): Show |
a0001a0004a0008others(2): Show | a0001c0022a0001c0038a0001c0098others(5): Show | a0001c0022t0001a0001c0038t0004a0001c0098t0001others(5): Show | a0001c0022t0001g0008a0001c0022t0001g0021a0001c0022t0001g0131others(9): Show | 12 | 292 | 0.0411 | 5 | c.107 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45462865 | G | GAAGTC | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp1 others(9): Show |
a0001a0004a0008others(2): Show | a0001c0022a0001c0038a0001c0098others(5): Show | a0001c0022t0001a0001c0038t0004a0001c0098t0001others(5): Show | a0001c0022t0001g0008a0001c0022t0001g0021a0001c0022t0001g0131others(9): Show | 12 | 292 | 0.0411 | 5 | c.107 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69921413 | T | TATATC | intron_variant | MODIFIER | HG03225.hp1 HG06807.hp2 |
a0002 | a0002c0003a0002c0006 | a0002c0003t0020a0002c0006t0003 | a0002c0003t0020g0071a0002c0006t0003g0094 | 2 | 182 | 0.0110 | 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 | 69989553 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00741.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0002c0004others(5): Show | a0001c0002t0024a0002c0003t0002a0002c0003t0008others(15): Show | a0001c0002t0024g0028a0002c0003t0002g0018a0002c0003t0002g0020others(32): Show | 35 | 182 | 0.1923 | 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 | 70074498 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01257.hp2 others(20): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(12): Show | a0001c0001t0001g0047a0001c0001t0001g0062a0001c0001t0001g0080others(20): Show | 23 | 182 | 0.1264 | 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 | 70115825 | G | GTTTTT | intron_variant | MODIFIER | HG01257.hp2 HG01496.hp1 HG02886.hp1 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0004others(2): Show | a0001c0002t0002a0001c0005t0003a0002c0004t0001others(4): Show | a0001c0002t0002g0061a0001c0005t0003g0148a0002c0004t0001g0036others(5): Show | 8 | 182 | 0.0440 | 5 | c.127 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 16/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70145722 | C | CTTTTT | intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01978.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0007t0017a0001c0008t0001others(3): Show | a0001c0001t0001g0058a0001c0001t0001g0167a0001c0007t0017g0147others(5): Show | 8 | 182 | 0.0440 | 5 | c.177 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 25/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56101748 | A | ATTGAG | 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.175 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56185426 | C | CTTTTT | intron_variant | MODIFIER | HG01169.hp2 HG02258.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007a0001c0024 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0101a0001c0001t0001g0133a0001c0001t0004g0073others(4): Show | 7 | 264 | 0.0265 | 5 | c.-38 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56223914 | C | CATCTT | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02572.hp2 others(11): Show |
a0001a0004a0007 | a0001c0002a0001c0014a0004c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0014t0010others(5): Show | a0001c0002t0001g0099a0001c0002t0001g0105a0001c0002t0003g0080others(11): Show | 14 | 264 | 0.0530 | 5 | c.-39 others(24): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138636480 | A | AGAAAG | intron_variant | MODIFIER | HG01167.hp1 HG02145.hp2 HG02723.hp2 others(4): Show |
a0001a0002a0004 | a0001c0008a0001c0026a0001c0054others(4): Show | a0001c0008t0002a0001c0026t0001a0001c0054t0002others(4): Show | a0001c0008t0002g0093a0001c0026t0001g0038a0001c0054t0002g0090others(4): Show | 7 | 158 | 0.0443 | 5 | c.355 others(22): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138636532 | A | AAAGGC | intron_variant | MODIFIER | HG01943.hp2 NA19066.hp1 |
a0001 | a0001c0015a0001c0048 | a0001c0015t0001a0001c0048t0001 | a0001c0015t0001g0068a0001c0048t0001g0109 | 2 | 158 | 0.0127 | 5 | c.355 others(22): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138751004 | T | TAATTA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00597.hp1 others(153): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0006others(57): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(101): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(153): Show | 156 | 158 | 0.9873 | 5 | c.208 others(22): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 22/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138803524 | A | AAAAAT | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02559.hp1 others(15): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0012a0001c0016others(11): Show | a0001c0001t0001a0001c0012t0005a0001c0012t0010others(12): Show | a0001c0001t0001g0083a0001c0001t0001g0116a0001c0012t0005g0143others(15): Show | 18 | 158 | 0.1139 | 5 | c.149 others(22): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138822033 | T | TTTTTG | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00639.hp2 others(70): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0006others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(70): Show | 73 | 158 | 0.4620 | 5 | c.970 others(20): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 6/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138829403 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00597.hp1 others(57): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(39): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(57): Show | 60 | 158 | 0.3798 | 5 | c.846 others(22): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 5/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138879008 | A | AAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG02630.hp2 others(5): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0005a0001c0002t0003a0001c0002t0005others(4): Show | a0001c0001t0005g0142a0001c0002t0003g0009a0001c0002t0005g0153others(5): Show | 8 | 158 | 0.0506 | 5 | c.92- others(18): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 2/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138879837 | T | TAAAAC | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(119): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0006others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(119): Show | 122 | 158 | 0.7722 | 5 | c.92- others(20): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 2/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138901365 | T | TTTTTG | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp2 others(72): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(33): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(45): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0082others(72): Show | 75 | 158 | 0.4747 | 5 | c.-73 others(24): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138902733 | T | TATCTA | intron_variant | MODIFIER | HG03195.hp1 NA19240.hp1 |
a0002a0010 | a0002c0003a0010c0030 | a0002c0003t0001a0010c0030t0004 | a0002c0003t0001g0020a0010c0030t0004g0021 | 2 | 158 | 0.0127 | 5 | c.-73 others(24): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178234031 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02258.hp1 others(5): Show |
a0001a0003a0004 | a0001c0001a0001c0021a0003c0005others(1): Show | a0001c0001t0003a0001c0021t0006a0003c0005t0003others(1): Show | a0001c0001t0003g0214a0001c0021t0006g0234a0003c0005t0003g0125others(5): Show | 8 | 236 | 0.0339 | 5 | c.*46 others(16): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3586 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178287007 | G | GTACCT | intron_variant | MODIFIER | HG02015.hp1 HG03490.hp2 NA18964.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0199a0001c0001t0004g0109a0002c0002t0001g0181 | 3 | 236 | 0.0127 | 5 | c.441 others(22): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 5/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178413181 | C | CAACAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp2 others(56): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0002g0048a0001c0001t0003g0006others(56): Show | 59 | 236 | 0.2500 | 5 | c.362 others(26): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178484534 | T | TGAGGC | intron_variant | MODIFIER | HG02630.hp1 HG03225.hp2 |
a0001a0003 | a0001c0004a0003c0005 | a0001c0004t0002a0003c0005t0002 | a0001c0004t0002g0120a0003c0005t0002g0005 | 2 | 236 | 0.0085 | 5 | c.361 others(24): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178500424 | C | CCAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02129.hp1 HG02165.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0004t0004others(4): Show | a0001c0001t0004g0022a0001c0001t0004g0037a0001c0001t0005g0222others(5): Show | 8 | 236 | 0.0339 | 5 | c.361 others(24): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178556625 | T | TTAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(52): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0028a0001c0001t0002g0079a0001c0001t0002g0083others(52): Show | 55 | 236 | 0.2331 | 5 | c.361 others(22): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85740953 | C | CAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01934.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0100others(5): Show | 8 | 238 | 0.0336 | 5 | c.467 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 57/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85803453 | C | CAAACA | intron_variant | MODIFIER | HG01074.hp2 HG01496.hp2 HG01934.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0160others(3): Show | 6 | 238 | 0.0252 | 5 | c.395 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85901824 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01123.hp1 others(29): Show |
a0001a0003a0004others(11): Show | a0001c0001a0003c0007a0003c0031others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(17): Show | a0001c0001t0001g0119a0001c0001t0001g0159a0001c0001t0002g0126others(29): Show | 32 | 238 | 0.1345 | 5 | c.277 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85901842 | A | AAAAAG | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01071.hp1 others(14): Show |
a0002a0003a0005others(6): Show | a0002c0003a0003c0007a0005c0004others(6): Show | a0002c0003t0002a0003c0007t0001a0003c0007t0002others(9): Show | a0002c0003t0002g0145a0002c0003t0002g0156a0003c0007t0001g0075others(14): Show | 17 | 238 | 0.0714 | 5 | c.277 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85912340 | A | AAAGCG | 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(22): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85927218 | G | GTGTGC | intron_variant | MODIFIER | HG01993.hp1 HG02809.hp1 HG02809.hp2 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0005a0002c0011a0004c0071others(4): Show | a0001c0005t0003a0002c0011t0003a0004c0071t0001others(4): Show | a0001c0005t0003g0207a0001c0005t0003g0218a0002c0011t0003g0211others(6): Show | 9 | 238 | 0.0378 | 5 | c.256 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85945002 | G | GTTTTT | intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02965.hp2 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0005a0002c0011a0006c0032others(2): Show | a0001c0005t0003a0002c0011t0003a0006c0032t0012others(2): Show | a0001c0005t0003g0207a0002c0011t0003g0211a0002c0011t0003g0212others(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 | 85945018 | T | TTTTTG | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01109.hp2 others(23): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0003a0003c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0193a0001c0001t0002g0092a0001c0001t0002g0125others(23): Show | 26 | 238 | 0.1092 | 5 | c.256 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86014622 | C | CTCTTT | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00642.hp1 others(193): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0005a0001c0066others(69): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(102): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0114others(193): Show | 196 | 238 | 0.8235 | 5 | c.231 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86097528 | T | TCCTCC | intron_variant | MODIFIER | HG02572.hp2 HG03579.hp2 NA18522.hp1 |
a0014 | a0014c0020 | a0014c0020t0002 | a0014c0020t0002g0171a0014c0020t0002g0172a0014c0020t0002g0173 | 3 | 238 | 0.0126 | 5 | c.160 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86097545 | T | TCCTCC | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01109.hp1 others(23): Show |
a0002a0007a0015others(5): Show | a0002c0003a0002c0011a0007c0010others(8): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(14): Show | a0002c0003t0001g0166a0002c0003t0001g0167a0002c0003t0001g0220others(23): Show | 26 | 238 | 0.1092 | 5 | c.160 others(24): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86138848 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG02647.hp2 HG03098.hp2 others(3): Show |
a0015a0016a0026others(1): Show | a0015c0038a0015c0039a0016c0021others(2): Show | a0015c0038t0002a0015c0039t0003a0016c0021t0001others(2): Show | a0015c0038t0002g0023a0015c0039t0003g0025a0016c0021t0001g0021others(3): Show | 6 | 238 | 0.0252 | 5 | c.121 others(22): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 2/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108807839 | T | TATATA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01891.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0003t0024a0001c0004t0003others(1): Show | a0001c0001t0002g0056a0001c0001t0002g0071a0001c0001t0002g0104others(5): Show | 8 | 130 | 0.0615 | 5 | c.*60 others(16): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 885 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108868561 | A | AGAAAG | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(4): Show | a0001c0001t0001g0048a0001c0001t0001g0068a0001c0001t0002g0126others(6): Show | 9 | 130 | 0.0692 | 5 | c.108 others(22): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 20/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108961568 | C | CCTGTT | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01071.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0074a0001c0001t0001g0092a0001c0001t0002g0091others(15): Show | 18 | 130 | 0.1385 | 5 | c.492 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109035899 | T | TTTTTA | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(2): Show | a0001c0001t0001g0048a0001c0001t0001g0068a0001c0001t0003g0025others(3): Show | 6 | 130 | 0.0462 | 5 | c.420 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar |