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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL1A2_chr7_94389895_94436227 | 94393484 | A | ACGCACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG02486.hp1 HG02683.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0043 a0001c0001t0002g0127 a0001c0002t0001g0001 others(9): Show |
17 | 438 | 0.0388 | 8 | c.-15 others(19): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1410 | chr7 | TogoVar | |||||||
COL1A2_chr7_94389895_94436227 | 94396314 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01943.hp1 HG01975.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0062 a0001c0003t0001g0232 a0001c0003t0002g0008 others(3): Show |
13 | 438 | 0.0297 | 8 | c.70+ others(23): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56053862 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01106.hp2 others(12): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0022others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0256 a0001c0001t0003g0029 others(12): Show |
15 | 264 | 0.0568 | 8 | c.*37 others(19): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56097858 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 HG02809.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0131 a0001c0001t0003g0029 a0001c0001t0003g0081 others(3): Show |
6 | 264 | 0.0227 | 8 | c.181 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098532 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01074.hp2 others(20): Show |
a0001a0008 | a0001c0001a0008c0017 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0142 others(20): Show |
23 | 264 | 0.0871 | 8 | c.181 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098628 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03225.hp2 |
a0004 | a0004c0004 | a0004c0004t0002a0004c0004t0004 | a0004c0004t0002g0103 a0004c0004t0002g0106 a0004c0004t0004g0026 |
3 | 264 | 0.0114 | 8 | c.181 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098646 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0131 a0001c0001t0003g0081 a0001c0001t0006g0019 |
3 | 264 | 0.0114 | 8 | c.181 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56129675 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01168.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0011 | a0001c0001t0005g0154 a0001c0001t0008g0036 a0001c0001t0008g0041 others(3): Show |
6 | 264 | 0.0227 | 8 | c.154 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56129699 | T | TGTGAGAG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01346.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0145 a0001c0001t0001g0223 a0001c0001t0001g0224 others(5): Show |
8 | 264 | 0.0303 | 8 | c.154 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56129699 | T | TGTGTGAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(79): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0015a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0110 others(78): Show |
82 | 264 | 0.3106 | 8 | c.154 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56130165 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01928.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0018others(5): Show | a0001c0001t0005g0258 a0001c0001t0009g0034 a0001c0001t0009g0039 others(12): Show |
15 | 264 | 0.0568 | 8 | c.154 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01071.hp1 others(19): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0002a0006c0011others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0002others(4): Show | a0001c0001t0001g0132 a0001c0001t0001g0259 a0001c0001t0001g0260 others(19): Show |
22 | 264 | 0.0833 | 8 | c.143 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56150514 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03540.hp2 HG04228.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0007t0002others(2): Show | a0001c0001t0001g0107 a0001c0001t0012g0002 a0001c0007t0002g0261 others(2): Show |
5 | 264 | 0.0189 | 8 | c.143 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56165915 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02451.hp2 HG02559.hp1 others(6): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0107 a0001c0001t0001g0179 a0001c0001t0003g0043 others(6): Show |
9 | 264 | 0.0341 | 8 | c.127 others(25): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 7/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56206693 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02698.hp1 NA18945.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0019 | a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0019g0094 |
3 | 264 | 0.0114 | 8 | c.-38 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138643609 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02145.hp2 others(11): Show |
a0001a0002a0004 | a0001c0006a0001c0008a0001c0046others(4): Show | a0001c0006t0002a0001c0008t0001a0001c0008t0002others(8): Show | a0001c0006t0002g0032 a0001c0008t0001g0041 a0001c0008t0002g0096 others(11): Show |
14 | 158 | 0.0886 | 8 | c.350 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0116 others(24): Show |
27 | 158 | 0.1709 | 8 | c.350 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138643651 | C | CAGACAGA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01943.hp2 HG02970.hp2 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0014a0001c0015a0001c0044others(4): Show | a0001c0014t0004a0001c0015t0001a0001c0044t0002others(6): Show | a0001c0014t0004g0018 a0001c0015t0001g0068 a0001c0044t0002g0065 others(8): Show |
11 | 158 | 0.0696 | 8 | c.350 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138652735 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00741.hp2 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0014others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0053 a0001c0001t0001g0116 a0001c0001t0001g0121 others(19): Show |
22 | 158 | 0.1392 | 8 | c.333 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138660787 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG02559.hp2 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0001c0008others(14): Show | a0001c0002t0001a0001c0006t0001a0001c0008t0002others(18): Show | a0001c0002t0001g0100 a0001c0006t0001g0113 a0001c0008t0002g0093 others(20): Show |
23 | 158 | 0.1456 | 8 | c.324 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138664194 | T | TGCGCGCG others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01981.hp1 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0002c0029others(4): Show | a0001c0001t0001a0002c0003t0003a0002c0029t0002others(4): Show | a0001c0001t0001g0116 a0001c0001t0001g0123 a0002c0003t0003g0001 others(5): Show |
8 | 158 | 0.0506 | 8 | c.315 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138676413 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02451.hp1 HG02451.hp2 others(3): Show |
a0001a0002a0004 | a0001c0008a0002c0004a0002c0005others(2): Show | a0001c0008t0002a0002c0004t0008a0002c0005t0009others(2): Show | a0001c0008t0002g0133 a0002c0004t0008g0023 a0002c0004t0008g0099 others(3): Show |
6 | 158 | 0.0380 | 8 | c.315 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138710606 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(107): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0006others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0080 others(107): Show |
110 | 158 | 0.6962 | 8 | c.251 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 30/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138726498 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02809.hp1 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0008a0001c0014others(6): Show | a0001c0002t0001a0001c0008t0001a0001c0008t0002others(7): Show | a0001c0002t0001g0049 a0001c0008t0001g0041 a0001c0008t0002g0096 others(7): Show |
10 | 158 | 0.0633 | 8 | c.214 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138744481 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03139.hp1 HG03209.hp1 |
a0001 | a0001c0012a0001c0016a0001c0056 | a0001c0012t0005a0001c0016t0001a0001c0056t0004 | a0001c0012t0005g0143 a0001c0016t0001g0132 a0001c0056t0004g0039 |
3 | 158 | 0.0190 | 8 | c.208 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 22/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138795528 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02258.hp1 others(2): Show |
a0001a0004a0008 | a0001c0001a0004c0019a0004c0040others(1): Show | a0001c0001t0001a0001c0001t0002a0004c0019t0014others(2): Show | a0001c0001t0001g0101 a0001c0001t0002g0017 a0004c0019t0014g0154 others(2): Show |
5 | 158 | 0.0317 | 8 | c.159 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 12/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138805496 | T | TGTGTGAT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02622.hp2 others(6): Show |
a0001a0002 | a0001c0012a0001c0017a0001c0026others(4): Show | a0001c0012t0001a0001c0012t0002a0001c0017t0007others(5): Show | a0001c0012t0001g0037 a0001c0012t0002g0059 a0001c0017t0007g0147 others(6): Show |
9 | 158 | 0.0570 | 8 | c.149 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138845516 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp2 HG02280.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0008others(13): Show | a0001c0001t0001a0001c0006t0002a0001c0008t0002others(14): Show | a0001c0001t0001g0101 a0001c0006t0002g0032 a0001c0008t0002g0093 others(15): Show |
18 | 158 | 0.1139 | 8 | c.659 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 3/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138902737 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02055.hp1 HG04228.hp2 others(1): Show |
a0001a0002a0005 | a0001c0012a0001c0015a0002c0003others(1): Show | a0001c0012t0002a0001c0015t0001a0002c0003t0001others(1): Show | a0001c0012t0002g0059 a0001c0015t0001g0077 a0002c0003t0001g0076 others(1): Show |
4 | 158 | 0.0253 | 8 | c.-73 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138902739 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03710.hp2 NA20129.hp2 |
a0002a0003 | a0002c0004a0003c0033 | a0002c0004t0001a0003c0033t0002 | a0002c0004t0001g0127 a0003c0033t0002g0015 |
2 | 158 | 0.0127 | 8 | c.-73 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACTC others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02451.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0004c0006t0003 | a0001c0001t0003g0214 a0004c0006t0003g0139 a0004c0006t0003g0143 others(1): Show |
4 | 236 | 0.0170 | 8 | c.105 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACTCTC others(1): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19002.hp2 NA19011.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0005 | a0001c0001t0004g0054 a0001c0001t0004g0201 a0002c0003t0005g0068 |
3 | 236 | 0.0127 | 8 | c.105 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02896.hp2 HG03491.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0077 a0002c0002t0001g0104 a0002c0003t0001g0129 |
3 | 236 | 0.0127 | 8 | c.730 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178261006 | A | ATCTGTAG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(71): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0002 a0001c0001t0003g0123 a0001c0001t0003g0170 others(71): Show |
74 | 236 | 0.3136 | 8 | c.702 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 11/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178269287 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02922.hp2 others(5): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0004t0004others(4): Show | a0001c0001t0004g0011 a0001c0001t0004g0087 a0001c0001t0005g0072 others(5): Show |
8 | 236 | 0.0339 | 8 | c.469 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178269426 | T | TCCACCCA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01167.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0002g0058 others(20): Show |
23 | 236 | 0.0975 | 8 | c.469 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178269591 | A | AATCCATC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01106.hp1 others(76): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0021others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0083 others(76): Show |
79 | 236 | 0.3348 | 8 | c.468 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178269795 | G | GCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(109): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0199 others(109): Show |
112 | 236 | 0.4746 | 8 | c.468 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178269808 | C | CATCCATC others(1): Show |
intron_variant | MODIFIER | NA18990.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 a0001c0001t0005g0222 |
2 | 236 | 0.0085 | 8 | c.468 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178300721 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01070.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0002g0056 a0001c0001t0002g0083 a0001c0001t0002g0153 others(49): Show |
52 | 236 | 0.2203 | 8 | c.406 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178311503 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0005 | a0001c0001t0003a0002c0009t0006a0003c0005t0002 | a0001c0001t0003g0006 a0002c0009t0006g0232 a0003c0005t0002g0168 others(1): Show |
4 | 236 | 0.0170 | 8 | c.362 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178319887 | C | CCGCCCTA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(77): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002 a0001c0001t0002g0028 a0001c0001t0002g0056 others(77): Show |
80 | 236 | 0.3390 | 8 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178358020 | G | GTATGCGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 NA20129.hp1 |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0013 | a0002c0003t0005g0092 a0002c0003t0013g0114 |
2 | 236 | 0.0085 | 8 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178358719 | A | ATGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG01517.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0004a0001c0004t0002a0001c0004t0005others(4): Show | a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0174 others(8): Show |
11 | 236 | 0.0466 | 8 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178365136 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0002g0055 a0001c0001t0002g0150 others(27): Show |
30 | 236 | 0.1271 | 8 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178487287 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03130.hp1 HG03516.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0004g0201 a0001c0001t0005g0009 a0001c0001t0007g0008 others(3): Show |
6 | 236 | 0.0254 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178487288 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01928.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0005a0002c0002t0001a0002c0003t0004others(1): Show | a0001c0001t0005g0107 a0002c0002t0001g0001 a0002c0003t0004g0099 others(2): Show |
5 | 236 | 0.0212 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178487288 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01261.hp1 HG02145.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0004a0002c0002t0001a0002c0003t0002others(6): Show | a0001c0001t0004g0203 a0002c0002t0001g0075 a0002c0002t0001g0191 others(8): Show |
11 | 236 | 0.0466 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178498255 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02965.hp2 NA19060.hp2 |
a0002a0003 | a0002c0002a0002c0003a0003c0005 | a0002c0002t0001a0002c0003t0002a0003c0005t0003 | a0002c0002t0001g0191 a0002c0003t0002g0211 a0003c0005t0003g0125 |
3 | 236 | 0.0127 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178523157 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18971.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0002 | a0001c0001t0004g0011 a0002c0003t0002g0206 |
2 | 236 | 0.0085 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar |