view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL18A1_chr21_45400165_45518720 | 45510946 | C | CCCACACA others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(71): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0005a0001c0006others(25): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(31): Show | a0001c0002t0001g0080 a0001c0002t0002g0047 a0001c0002t0002g0060 others(71): Show |
74 | 292 | 0.2534 | 14 | c.369 others(31): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 40/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921513 | T | TATTCATA others(7): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0175 | 1 | 182 | 0.0055 | 14 | c.267 others(31): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | chr6 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69921658 | A | ATGTATAT others(7): Show |
intron_variant | MODIFIER | HG01069.hp2 NA20129.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0040a0001c0008t0014 | a0001c0002t0040g0132 a0001c0008t0014g0136 |
2 | 182 | 0.0110 | 14 | c.267 others(31): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69997026 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0009 | a0002c0009t0004 | a0002c0009t0004g0176 | 1 | 182 | 0.0055 | 14 | 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 | 70187332 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp1 others(53): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0022a0001c0002t0001others(11): Show | a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0053 others(53): Show |
56 | 182 | 0.3077 | 14 | c.285 others(31): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 46/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70195136 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0018 | a0004c0018t0025 | a0004c0018t0025g0114 | 1 | 182 | 0.0055 | 14 | c.309 others(33): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 48/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70215912 | A | AACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(26): Show |
a0001a0002a0005others(2): Show | a0001c0002a0002c0003a0002c0004others(3): Show | a0001c0002t0002a0001c0002t0008a0002c0003t0002others(5): Show | a0001c0002t0002g0001 a0001c0002t0002g0023 a0001c0002t0002g0050 others(26): Show |
29 | 182 | 0.1593 | 14 | c.*86 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 3445 | chr6 | TogoVar | |||||||
COL1A2_chr7_94389895_94436227 | 94393484 | A | ACACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01255.hp2 HG01358.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0117 a0001c0001t0001g0118 others(8): Show |
14 | 438 | 0.0320 | 14 | c.-15 others(25): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1410 | chr7 | TogoVar | |||||||
COL20A1_chr20_63288186_63339806 | 63294458 | C | CCTCCTTG others(7): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0015 | a0015c0022 | a0015c0022t0005 | a0015c0022t0005g0183 | 1 | 290 | 0.0035 | 14 | c.-10 others(29): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56053862 | A | AGTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 264 | 0.0038 | 14 | c.*37 others(25): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098001 | A | ATATAAAT others(7): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0087 | 1 | 264 | 0.0038 | 14 | c.181 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098574 | T | TATAAATA others(7): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01106.hp1 others(17): Show |
a0001a0009 | a0001c0001a0001c0019a0009c0018 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0142 others(17): Show |
20 | 264 | 0.0758 | 14 | c.181 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098630 | T | TATAAATA others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0061 | 1 | 264 | 0.0038 | 14 | c.181 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56129675 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0003g0064 a0001c0001t0005g0155 a0001c0001t0005g0171 others(5): Show |
8 | 264 | 0.0303 | 14 | c.154 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56129699 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0008a0008c0027 | a0001c0001t0003a0001c0008t0002a0001c0008t0004others(1): Show | a0001c0001t0003g0085 a0001c0008t0002g0261 a0001c0008t0004g0077 others(1): Show |
4 | 264 | 0.0152 | 14 | c.154 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56130165 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01169.hp2 |
a0001a0008 | a0001c0001a0008c0027 | a0001c0001t0005a0008c0027t0002 | a0001c0001t0005g0171 a0008c0027t0002g0262 |
2 | 264 | 0.0076 | 14 | c.154 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02451.hp1 HG02895.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0112 a0001c0001t0001g0147 a0001c0001t0001g0177 others(14): Show |
17 | 264 | 0.0644 | 14 | c.143 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56150565 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0080 | 1 | 264 | 0.0038 | 14 | c.143 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56206697 | A | AATAAATA others(7): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0044 | 1 | 264 | 0.0038 | 14 | c.-38 others(33): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138658866 | A | ATCTTCTC others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp1 HG01884.hp1 others(27): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(20): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0005others(25): Show | a0001c0001t0002g0017 a0001c0002t0001g0100 a0001c0002t0005g0151 others(27): Show |
30 | 158 | 0.1899 | 14 | c.328 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 44/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02572.hp2 HG02615.hp1 others(2): Show |
a0001a0002 | a0001c0016a0001c0053a0002c0004others(1): Show | a0001c0016t0001a0001c0053t0001a0002c0004t0004others(1): Show | a0001c0016t0001g0063 a0001c0016t0001g0097 a0001c0053t0001g0118 others(2): Show |
5 | 158 | 0.0317 | 14 | c.318 others(31): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138710606 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG02451.hp1 others(1): Show |
a0002a0004 | a0002c0022a0002c0052a0004c0040 | a0002c0022t0001a0002c0022t0002a0002c0052t0002others(1): Show | a0002c0022t0001g0040 a0002c0022t0002g0028 a0002c0052t0002g0058 others(1): Show |
4 | 158 | 0.0253 | 14 | c.251 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 30/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138726498 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01261.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0007others(8): Show | a0001c0001t0001g0121 a0001c0001t0003g0004 a0001c0002t0007g0156 others(8): Show |
11 | 158 | 0.0696 | 14 | c.214 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138795528 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00642.hp2 others(29): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0008others(21): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0002others(24): Show | a0001c0001t0001g0083 a0001c0002t0001g0016 a0001c0002t0001g0046 others(29): Show |
32 | 158 | 0.2025 | 14 | c.159 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 12/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138805808 | A | ATGTGTGA others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00642.hp2 others(65): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(35): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(49): Show | a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0002t0001g0046 others(65): Show |
68 | 158 | 0.4304 | 14 | c.149 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138809528 | C | CTTTTTCT others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 NA19043.hp2 |
a0001a0002 | a0001c0026a0002c0009a0002c0025 | a0001c0026t0001a0002c0009t0001a0002c0025t0004 | a0001c0026t0001g0061 a0002c0009t0001g0104 a0002c0025t0004g0103 |
3 | 158 | 0.0190 | 14 | c.145 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 9/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138902739 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 |
a0001 | a0001c0008a0001c0016 | a0001c0008t0002a0001c0016t0001 | a0001c0008t0002g0096 a0001c0016t0001g0097 |
2 | 158 | 0.0127 | 14 | c.-73 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178232828 | T | TCGCCCCG others(7): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02615.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0010a0002c0003t0005 | a0002c0002t0010g0228 a0002c0003t0005g0092 |
2 | 236 | 0.0085 | 14 | c.*58 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 4789 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02970.hp2 HG03139.hp1 others(1): Show |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0003a0002c0003t0005a0003c0005t0005 | a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0005g0092 others(1): Show |
4 | 236 | 0.0170 | 14 | c.105 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0001a0004c0006t0003 | a0002c0003t0001g0129 a0004c0006t0003g0062 |
2 | 236 | 0.0085 | 14 | c.105 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACTCAC others(7): Show |
intron_variant | MODIFIER | HG03225.hp2 HG04184.hp2 NA18999.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0004a0001c0004t0002a0002c0003t0001 | a0001c0001t0004g0164 a0001c0001t0004g0197 a0001c0004t0002g0120 others(1): Show |
4 | 236 | 0.0170 | 14 | c.105 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACTCACTC others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188 | 1 | 236 | 0.0042 | 14 | c.105 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACTCTCTC others(7): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 | 1 | 236 | 0.0042 | 14 | c.105 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178301959 | C | CCTCTGTG others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0004a0001c0004t0005a0002c0003t0001others(4): Show | a0001c0001t0004g0029 a0001c0001t0004g0081 a0001c0004t0005g0059 others(8): Show |
11 | 236 | 0.0466 | 14 | c.406 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178358248 | G | GTATGTGT others(7): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03139.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003 | a0002c0003t0001g0129 a0002c0003t0003g0157 |
2 | 236 | 0.0085 | 14 | c.362 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178358248 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01243.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0002 a0001c0001t0003g0027 a0001c0001t0003g0073 others(12): Show |
15 | 236 | 0.0636 | 14 | c.362 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178365136 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02071.hp2 NA19060.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0193 a0002c0002t0001g0191 |
2 | 236 | 0.0085 | 14 | c.362 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178403108 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0145 | 1 | 236 | 0.0042 | 14 | c.362 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178498255 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0009 | a0002c0009t0008 | a0002c0009t0008g0235 | 1 | 236 | 0.0042 | 14 | c.361 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178517559 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0091 | 1 | 236 | 0.0042 | 14 | c.361 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178523201 | T | TATATAGA others(7): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 236 | 0.0042 | 14 | c.361 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178562733 | T | TGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 236 | 0.0042 | 14 | c.295 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178562736 | T | TGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02451.hp2 HG03492.hp1 others(2): Show |
a0003a0004 | a0003c0005a0003c0007a0004c0006 | a0003c0005t0003a0003c0007t0001a0004c0006t0003others(1): Show | a0003c0005t0003g0217 a0003c0007t0001g0013 a0003c0007t0001g0154 others(2): Show |
5 | 236 | 0.0212 | 14 | c.295 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178572072 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03209.hp1 NA18990.hp2 |
a0001a0002a0008 | a0001c0001a0002c0009a0008c0019 | a0001c0001t0005a0002c0009t0008a0008c0019t0003 | a0001c0001t0005g0222 a0002c0009t0008g0235 a0008c0019t0003g0215 |
3 | 236 | 0.0127 | 14 | c.295 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85813532 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 238 | 0.0042 | 14 | c.395 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85875716 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0027 | a0002c0027t0008 | a0002c0027t0008g0064 | 1 | 238 | 0.0042 | 14 | c.303 others(31): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 33/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85885397 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0059 | 1 | 238 | 0.0042 | 14 | c.297 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 32/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85885397 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01109.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001a0003c0003t0016 | a0001c0001t0002g0155 a0003c0003t0001g0166 a0003c0003t0001g0167 others(5): Show |
8 | 238 | 0.0336 | 14 | c.297 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 32/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01891.hp1 HG02630.hp2 others(4): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0002a0006c0061others(1): Show | a0001c0001t0001a0004c0002t0007a0006c0061t0003others(1): Show | a0001c0001t0001g0119 a0004c0002t0007g0001 a0004c0002t0007g0002 others(4): Show |
7 | 238 | 0.0294 | 14 | c.277 others(31): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997039 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 238 | 0.0042 | 14 | c.231 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar |