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 | 120202989 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02630.hp2 HG02886.hp2 others(9): Show |
a0001a0002a0010 | a0001c0001a0001c0040a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0134a0001c0001t0002g0082a0001c0001t0003g0027others(9): Show | 12 | 218 | 0.0551 | 16 | c.878 others(31): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120241657 | G | GACAAACA others(9): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03041.hp1 |
a0006 | a0006c0019a0006c0020 | a0006c0019t0005a0006c0020t0001 | a0006c0019t0005g0017a0006c0020t0001g0042 | 2 | 218 | 0.0092 | 16 | c.235 others(35): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 19/47 | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120298597 | T | TTTTATAT others(9): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0188 | 1 | 218 | 0.0046 | 16 | c.431 others(35): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120334583 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0121 | 1 | 218 | 0.0046 | 16 | c.478 others(35): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950550 | C | CCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01928.hp1 others(21): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0013a0001c0031others(14): Show | a0001c0001t0002a0001c0013t0001a0001c0031t0001others(14): Show | a0001c0001t0002g0067a0001c0001t0002g0070a0001c0013t0001g0064others(21): Show | 24 | 310 | 0.0774 | 16 | c.100 others(33): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01496.hp1 others(12): Show |
a0003a0004a0005others(5): Show | a0003c0004a0004c0005a0005c0015others(6): Show | a0003c0004t0001a0004c0005t0001a0005c0015t0001others(6): Show | a0003c0004t0001g0030a0004c0005t0001g0042a0005c0015t0001g0029others(12): Show | 15 | 310 | 0.0484 | 16 | c.100 others(33): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0223 | 1 | 310 | 0.0032 | 16 | c.100 others(33): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99024268 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0100 | 1 | 310 | 0.0032 | 16 | c.185 others(33): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 14/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31707389 | C | CTTTTCTT others(9): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 NA19010.hp1 |
a0001a0013 | a0001c0001a0013c0019 | a0001c0001t0001a0013c0019t0001 | a0001c0001t0001g0207a0013c0019t0001g0020 | 2 | 342 | 0.0059 | 16 | c.-35 others(27): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3373 | chr1 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104036145 | G | GGAGTGAG others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02922.hp1 NA18906.hp2 |
a0006a0007 | a0006c0008a0006c0042a0007c0035 | a0006c0008t0002a0006c0042t0002a0007c0035t0002 | a0006c0008t0002g0258a0006c0042t0002g0294a0007c0035t0002g0285 | 3 | 336 | 0.0089 | 16 | c.341 others(33): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104055444 | T | TCTCACAC others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002 | a0001c0001t0001g0141a0001c0006t0002g0092 | 2 | 336 | 0.0060 | 16 | c.168 others(31): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 18/55 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45485149 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0082 | a0001c0082t0008 | a0001c0082t0008g0053 | 1 | 292 | 0.0034 | 16 | c.170 others(35): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45491465 | G | GTAGAGGC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(176): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0003others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(75): Show | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0033others(176): Show | 179 | 292 | 0.6130 | 16 | c.215 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 22/41 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45491466 | C | CAGACGCC others(9): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01081.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0020others(6): Show | a0001c0001t0001a0001c0011t0001a0002c0020t0001others(6): Show | a0001c0001t0001g0120a0001c0011t0001g0009a0001c0011t0001g0016others(10): Show | 13 | 292 | 0.0445 | 16 | c.215 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 22/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45491466 | C | CAGAGGCC others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG02559.hp2 others(8): Show |
a0001a0002a0022others(2): Show | a0001c0001a0002c0012a0002c0020others(6): Show | a0001c0001t0001a0002c0012t0004a0002c0020t0003others(6): Show | a0001c0001t0001g0192a0002c0012t0004g0058a0002c0020t0003g0156others(8): Show | 11 | 292 | 0.0377 | 16 | c.215 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 22/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45491470 | C | GGCCCTCG others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00733.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0093a0001c0001t0001g0127a0001c0001t0001g0246others(13): Show | 16 | 292 | 0.0548 | 16 | c.215 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 22/41 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45491476 | C | CGGTCAGA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG02698.hp1 others(4): Show |
a0001a0005a0017 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(4): Show | a0001c0001t0001g0253a0001c0002t0002g0094a0001c0004t0001g0271others(4): Show | 7 | 292 | 0.0240 | 16 | c.215 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 22/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69896543 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0106 | 1 | 182 | 0.0055 | 16 | c.92- others(31): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69921055 | T | TCATATAT others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18942.hp1 NA18948.hp1 others(4): Show |
a0002a0006 | a0002c0003a0002c0006a0002c0011others(1): Show | a0002c0003t0002a0002c0006t0003a0002c0006t0007others(2): Show | a0002c0003t0002g0020a0002c0003t0002g0100a0002c0003t0002g0103others(4): Show | 7 | 182 | 0.0385 | 16 | c.267 others(33): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70016366 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0108 | 1 | 182 | 0.0055 | 16 | c.102 others(35): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70215912 | A | AACACACA others(9): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0100 | 1 | 182 | 0.0055 | 16 | c.*86 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 3445 | chr6 | TogoVar | ||||||
COL1A2_chr7_94389895_94436227 | 94393484 | A | ACACACAC others(9): Show |
upstream_gene_variant | MODIFIER | NA18986.hp1 NA19000.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0034 | 2 | 438 | 0.0046 | 16 | c.-15 others(27): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1410 | chr7 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56053862 | A | AGTGTGTG others(9): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG03209.hp2 |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0002a0004c0004t0017 | a0001c0002t0002g0190a0004c0004t0017g0006 | 2 | 264 | 0.0076 | 16 | c.*37 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56097917 | A | AAATATAT others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0107a0001c0002t0001g0105 | 2 | 264 | 0.0076 | 16 | c.181 others(35): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098606 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0054 | 1 | 264 | 0.0038 | 16 | c.181 others(35): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56129675 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0235a0001c0001t0018g0032 | 2 | 264 | 0.0076 | 16 | c.154 others(35): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56130165 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03669.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0002 | a0001c0002t0004g0052a0001c0007t0002g0261 | 2 | 264 | 0.0076 | 16 | c.154 others(35): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01074.hp1 others(27): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0022a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0110a0001c0001t0001g0141a0001c0001t0001g0149others(27): Show | 30 | 264 | 0.1136 | 16 | c.143 others(35): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56148368 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0099a0001c0002t0003g0080 | 2 | 264 | 0.0076 | 16 | c.143 others(35): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56150514 | T | TCTCACAC others(9): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0021 | a0001c0001t0006g0018a0001c0001t0008g0054a0001c0001t0021g0139 | 3 | 264 | 0.0114 | 16 | c.143 others(35): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643609 | T | TATAGATA others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02735.hp1 |
a0002a0012 | a0002c0005a0012c0050 | a0002c0005t0001a0012c0050t0002 | a0002c0005t0001g0074a0012c0050t0002g0110 | 2 | 158 | 0.0127 | 16 | c.350 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02896.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0016a0002c0025 | a0001c0001t0001a0001c0001t0002a0001c0016t0001others(1): Show | a0001c0001t0001g0083a0001c0001t0002g0017a0001c0016t0001g0097others(1): Show | 4 | 158 | 0.0253 | 16 | c.350 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG02738.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0016others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0001g0101a0001c0002t0001g0049a0001c0002t0001g0100others(12): Show | 15 | 158 | 0.0949 | 16 | c.350 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138651724 | C | CATGGATG others(9): Show |
intron_variant | MODIFIER | HG02896.hp2 NA19240.hp1 |
a0001a0010 | a0001c0001a0010c0030 | a0001c0001t0001a0010c0030t0004 | a0001c0001t0001g0083a0010c0030t0004g0021 | 2 | 158 | 0.0127 | 16 | c.333 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02145.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0028a0001c0045others(4): Show | a0001c0002t0002a0001c0028t0001a0001c0045t0001others(4): Show | a0001c0002t0002g0029a0001c0028t0001g0034a0001c0045t0001g0066others(4): Show | 7 | 158 | 0.0443 | 16 | c.318 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138676413 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02258.hp2 HG02559.hp1 others(3): Show |
a0001a0003a0014 | a0001c0016a0001c0017a0001c0053others(2): Show | a0001c0016t0001a0001c0017t0005a0001c0053t0001others(2): Show | a0001c0016t0001g0097a0001c0016t0001g0132a0001c0017t0005g0152others(3): Show | 6 | 158 | 0.0380 | 16 | c.315 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138676454 | A | AAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02280.hp1 |
a0005a0006 | a0005c0061a0006c0038 | a0005c0061t0001a0006c0038t0004 | a0005c0061t0001g0105a0006c0038t0004g0033 | 2 | 158 | 0.0127 | 16 | c.315 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138726498 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02970.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0062a0001c0006t0001g0113 | 2 | 158 | 0.0127 | 16 | c.214 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138795528 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG01891.hp2 others(16): Show |
a0001a0002a0007 | a0001c0002a0001c0008a0001c0010others(11): Show | a0001c0002t0002a0001c0008t0001a0001c0008t0002others(14): Show | a0001c0002t0002g0043a0001c0008t0001g0041a0001c0008t0002g0096others(16): Show | 19 | 158 | 0.1203 | 16 | c.159 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 12/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138805333 | C | CTGTGTGA others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01099.hp1 others(12): Show |
a0001a0002a0005others(2): Show | a0001c0002a0002c0003a0002c0004others(7): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0003others(9): Show | a0001c0002t0001g0046a0001c0002t0001g0049a0001c0002t0001g0108others(12): Show | 15 | 158 | 0.0949 | 16 | c.149 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0133a0001c0001t0005g0144a0001c0001t0005g0161others(1): Show | 4 | 236 | 0.0170 | 16 | c.105 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACTCAC others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG04115.hp2 HG04199.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037a0001c0001t0004g0069a0001c0001t0004g0081others(7): Show | 10 | 236 | 0.0424 | 16 | c.105 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACTCTC others(9): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0135a0004c0006t0004g0136 | 2 | 236 | 0.0085 | 16 | c.105 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0114 | 1 | 236 | 0.0042 | 16 | c.730 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178269591 | A | AATCCATC others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0002 | a0001c0001t0004g0035a0001c0004t0002g0120 | 2 | 236 | 0.0085 | 16 | c.468 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178269795 | G | GCATCCAT others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0089 | 1 | 236 | 0.0042 | 16 | c.468 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178325333 | C | CCCTGGCC others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(94): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0199a0001c0001t0002g0056a0001c0001t0002g0058others(94): Show | 97 | 236 | 0.4110 | 16 | c.362 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358248 | G | GTATGTGT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0228 | 1 | 236 | 0.0042 | 16 | c.362 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178362959 | A | AGCAACCC others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01346.hp2 HG01517.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0003g0159a0001c0001t0004g0081a0001c0001t0004g0174others(16): Show | 19 | 236 | 0.0805 | 16 | c.362 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178403108 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 236 | 0.0042 | 16 | c.362 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar |