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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL1A1_chr17_50179101_50206631 | 50184473 | CACAAAAA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0147 | 1 | 448 | 0.0022 | -10 | c.*10 others(21): Show |
COL1A1 | ENSG00000108821.14 | transcript | ENST00000225964.10 | protein_coding | 51/51 | 1019 | chr17 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63336505 | ATGTGTGT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02809.hp2 HG02818.hp2 |
a0001a0002a0013 | a0001c0031a0002c0048a0013c0047 | a0001c0031t0014a0002c0048t0014a0013c0047t0014 | a0001c0031t0014g0205a0002c0048t0014g0114a0013c0047t0014g0106 | 3 | 290 | 0.0103 | -10 | c.*57 others(21): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1700 | chr20 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63336562 | TGTGTGCG others(3): Show |
T | downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0044 | a0001c0044t0005 | a0001c0044t0005g0167 | 1 | 290 | 0.0035 | -10 | c.*58 others(21): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1757 | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56053862 | AGTGTGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02040.hp2 HG02155.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0008a0001c0002t0002a0002c0003t0001others(5): Show | a0001c0001t0008g0058a0001c0001t0008g0059a0001c0001t0008g0061others(13): Show | 16 | 264 | 0.0606 | -10 | c.*37 others(21): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56058102 | AACATTTA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(164): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0015others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0101a0001c0001t0001g0102others(163): Show | 167 | 264 | 0.6326 | -10 | c.268 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 29/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56087061 | CTTTTGTT others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(84): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0101a0001c0001t0001g0107a0001c0001t0001g0113others(84): Show | 87 | 264 | 0.3296 | -10 | c.181 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098530 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01884.hp1 others(5): Show |
a0001a0004 | a0001c0007a0004c0004a0004c0016 | a0001c0007t0002a0001c0007t0004a0004c0004t0004others(2): Show | a0001c0007t0002g0261a0001c0007t0004g0065a0001c0007t0004g0077others(5): Show | 8 | 264 | 0.0303 | -10 | c.181 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098586 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0108 | 1 | 264 | 0.0038 | -10 | c.181 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098596 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 264 | 0.0038 | -10 | c.181 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098698 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01943.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0164 | 2 | 264 | 0.0076 | -10 | c.181 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56112680 | CTTTTTTC others(3): Show |
C | intron_variant | MODIFIER | HG03017.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0147 | 2 | 264 | 0.0076 | -10 | c.175 others(31): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56122194 | ACACAAAT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01071.hp1 others(16): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0014others(5): Show | a0001c0001t0014a0001c0002t0002a0001c0014t0010others(6): Show | a0001c0001t0014g0087a0001c0002t0002g0197a0001c0014t0010g0010others(16): Show | 19 | 264 | 0.0720 | -10 | c.175 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56137748 | CAGGACAG others(3): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01346.hp2 HG01515.hp2 others(1): Show |
a0001a0006a0008 | a0001c0002a0006c0011a0008c0012 | a0001c0002t0002a0006c0011t0004a0008c0012t0004 | a0001c0002t0002g0197a0006c0011t0004g0090a0006c0011t0004g0091others(1): Show | 4 | 264 | 0.0152 | -10 | c.154 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56150514 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0024 | a0001c0024t0022 | a0001c0024t0022g0148 | 1 | 264 | 0.0038 | -10 | c.143 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56165907 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA19083.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0115a0002c0003t0001g0116 | 2 | 264 | 0.0076 | -10 | c.127 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 7/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56206693 | AATAAATA others(3): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03834.hp1 |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0002a0004c0004t0004 | a0001c0002t0002g0248a0004c0004t0004g0088 | 2 | 264 | 0.0076 | -10 | c.-38 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138623262 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0072 | 1 | 158 | 0.0063 | -10 | c.377 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138628760 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp2 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(41): Show | 44 | 158 | 0.2785 | -10 | c.366 others(29): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 50/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138636480 | AGAAAGGA others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02922.hp1 others(3): Show |
a0001a0004 | a0001c0018a0001c0024a0001c0027others(2): Show | a0001c0018t0004a0001c0024t0004a0001c0024t0016others(3): Show | a0001c0018t0004g0086a0001c0024t0004g0136a0001c0024t0016g0158others(3): Show | 6 | 158 | 0.0380 | -10 | c.355 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138652735 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG03486.hp1 HG03540.hp1 NA19240.hp1 |
a0001a0002a0010 | a0001c0008a0002c0060a0010c0030 | a0001c0008t0002a0002c0060t0004a0010c0030t0004 | a0001c0008t0002g0093a0002c0060t0004g0106a0010c0030t0004g0021 | 3 | 158 | 0.0190 | -10 | c.333 others(29): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138660811 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02896.hp2 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0083a0001c0001t0006g0107 | 2 | 158 | 0.0127 | -10 | c.324 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138660889 | CAGACACA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp2 others(66): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0082others(66): Show | 69 | 158 | 0.4367 | -10 | c.324 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138664201 | GCGCGCGC others(3): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0014 | a0001c0014t0011 | a0001c0014t0011g0091 | 1 | 158 | 0.0063 | -10 | c.315 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138664205 | GCGCGCAC others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 |
a0001a0016 | a0001c0002a0016c0036 | a0001c0002t0005a0016c0036t0002 | a0001c0002t0005g0151a0016c0036t0002g0085 | 2 | 158 | 0.0127 | -10 | c.315 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138664209 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG03453.hp1 HG03492.hp1 |
a0001a0009 | a0001c0002a0009c0047 | a0001c0002t0001a0009c0047t0001 | a0001c0002t0001g0108a0009c0047t0001g0098 | 2 | 158 | 0.0127 | -10 | c.315 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138692463 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp2 |
a0001 | a0001c0015a0001c0045 | a0001c0015t0002a0001c0045t0001 | a0001c0015t0002g0120a0001c0045t0001g0066 | 2 | 158 | 0.0127 | -10 | c.275 others(29): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138725752 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp1 HG02280.hp1 others(7): Show |
a0001a0003a0006others(2): Show | a0001c0002a0001c0010a0001c0012others(5): Show | a0001c0002t0002a0001c0002t0007a0001c0010t0001others(6): Show | a0001c0002t0002g0029a0001c0002t0007g0156a0001c0010t0001g0027others(7): Show | 10 | 158 | 0.0633 | -10 | c.214 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138766464 | GGAGACAG others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(62): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(62): Show | 65 | 158 | 0.4114 | -10 | c.180 others(29): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 16/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138806175 | AGTAATGG others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00642.hp2 others(65): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(35): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(49): Show | a0001c0001t0001g0083a0001c0001t0001g0116a0001c0002t0001g0046others(65): Show | 68 | 158 | 0.4304 | -10 | c.149 others(29): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138859282 | GCCCCCAG others(3): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0011 | a0002c0011t0005 | a0002c0011t0005g0144 | 1 | 158 | 0.0063 | -10 | c.659 others(29): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 3/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | ACTCTCTC others(3): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 236 | 0.0042 | -10 | c.105 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178258236 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01261.hp2 others(35): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0003a0002c0009others(7): Show | a0002c0002t0010a0002c0003t0001a0002c0003t0002others(11): Show | a0002c0002t0010g0228a0002c0003t0001g0152a0002c0003t0002g0016others(35): Show | 38 | 236 | 0.1610 | -10 | c.730 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178294987 | CAACAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03453.hp1 NA18906.hp1 |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0005a0004c0006t0003 | a0002c0003t0005g0066a0004c0006t0003g0139 | 2 | 236 | 0.0085 | -10 | c.407 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178311718 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp2 HG01243.hp2 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0199a0001c0001t0002g0058a0001c0001t0003g0073others(38): Show | 41 | 236 | 0.1737 | -10 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178357718 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(82): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0199a0001c0001t0002g0049a0001c0001t0002g0083others(82): Show | 85 | 236 | 0.3602 | -10 | c.362 others(29): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358302 | ATGTATGT others(3): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0120 | 1 | 236 | 0.0042 | -10 | c.362 others(29): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358755 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0228 | 1 | 236 | 0.0042 | -10 | c.362 others(29): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178408975 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG01928.hp2 HG02055.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0002c0003t0002others(3): Show | a0001c0001t0002g0056a0001c0001t0002g0058a0001c0001t0005g0072others(5): Show | 8 | 236 | 0.0339 | -10 | c.362 others(31): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178498205 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG03017.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0094a0002c0002t0001g0096 | 2 | 236 | 0.0085 | -10 | c.361 others(29): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178523197 | TATATAGA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG03669.hp2 |
a0001a0010 | a0001c0004a0010c0017 | a0001c0004t0004a0010c0017t0003 | a0001c0004t0004g0023a0010c0017t0003g0018 | 2 | 236 | 0.0085 | -10 | c.361 others(29): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178523199 | TATAGAGA others(3): Show |
T | intron_variant | MODIFIER | NA18950.hp1 NA19060.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0002 | a0002c0002t0001g0191a0002c0003t0002g0209 | 2 | 236 | 0.0085 | -10 | c.361 others(29): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178537476 | GTGTCCAC others(3): Show |
G | intron_variant | MODIFIER | NA18953.hp1 NA18955.hp2 NA18964.hp2 |
a0001a0003a0009 | a0001c0001a0003c0007a0009c0016 | a0001c0001t0004a0003c0007t0001a0009c0016t0002 | a0001c0001t0004g0087a0003c0007t0001g0154a0009c0016t0002g0108 | 3 | 236 | 0.0127 | -10 | c.361 others(29): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178562564 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01943.hp2 HG02451.hp2 others(16): Show |
a0002a0003a0004others(2): Show | a0002c0003a0003c0005a0003c0007others(3): Show | a0002c0003t0005a0003c0005t0002a0003c0005t0003others(6): Show | a0002c0003t0005g0146a0003c0005t0002g0163a0003c0005t0002g0168others(16): Show | 19 | 236 | 0.0805 | -10 | c.295 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178581606 | AAGACATC others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02809.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0122a0001c0001t0003g0159a0001c0001t0005g0161others(9): Show | 12 | 236 | 0.0509 | -10 | c.294 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85764455 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(36): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0002c0011others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(20): Show | a0001c0001t0001g0099a0001c0001t0001g0115a0001c0001t0001g0116others(36): Show | 39 | 238 | 0.1639 | -10 | c.437 others(29): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85875716 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG02897.hp1 |
a0004 | a0004c0002a0004c0071 | a0004c0002t0007a0004c0071t0001 | a0004c0002t0007g0001a0004c0071t0001g0152 | 2 | 238 | 0.0084 | -10 | c.303 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 33/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85879246 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01099.hp2 others(28): Show |
a0001a0002a0004others(12): Show | a0001c0001a0002c0003a0004c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(18): Show | a0001c0001t0001g0119a0001c0001t0002g0155a0002c0003t0001g0166others(28): Show | 31 | 238 | 0.1303 | -10 | c.297 others(29): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 32/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85999626 | ATAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(99): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0005a0001c0066others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0099others(99): Show | 102 | 238 | 0.4286 | -10 | c.231 others(31): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86001115 | AAAAGCTA others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0042 | a0042c0065 | a0042c0065t0004 | a0042c0065t0004g0188 | 1 | 238 | 0.0042 | -10 | c.231 others(31): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86063359 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA19082.hp2 | a0010 | a0010c0009 | a0010c0009t0002 | a0010c0009t0002g0053 | 1 | 238 | 0.0042 | -10 | c.175 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 8/59 | chr1 | TogoVar |