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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COBLL1_chr2_164675188_164846823 | 164773047 | G | GTAAATTG others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(47): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0027a0001c0001t0029others(20): Show | a0001c0001t0001g0110 a0001c0001t0027g0188 a0001c0001t0029g0179 others(46): Show |
50 | 210 | 0.2381 | 40 | c.42- others(57): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0015 | a0002c0015t0006 | a0002c0015t0006g0023 | 1 | 84 | 0.0119 | 40 | c.958 others(59): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0208 | 1 | 27 | 0.0370 | 40 | c.128 others(59): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 27 | 0.0370 | 40 | c.128 others(59): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 27 | 0.0370 | 40 | c.128 others(59): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(33): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 240 | 0.0042 | 40 | c.294 others(57): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(33): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0204 |
2 | 241 | 0.0083 | 40 | c.294 others(57): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200046 | A | AAAGCATA others(33): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 132 | 0.0076 | 40 | c.877 others(55): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707338 | C | CCTTTTCT others(33): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0001 | a0001c0001t0002g0263 a0001c0008t0001g0200 |
2 | 230 | 0.0087 | 40 | c.-35 others(51): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3322 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45437518 | A | ACACACTC others(33): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03704.hp1 HG04184.hp1 |
a0001a0006 | a0001c0001a0006c0016a0006c0048 | a0001c0001t0001a0006c0016t0002a0006c0048t0002 | a0001c0001t0001g0246 a0006c0016t0002g0292 a0006c0048t0002g0087 |
3 | 161 | 0.0186 | 40 | c.107 others(59): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437543 | C | CCTGCACA others(33): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0057 | a0003c0057t0002 | a0003c0057t0002g0028 | 1 | 290 | 0.0034 | 40 | c.107 others(59): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921016 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02897.hp2 |
a0003 | a0003c0010 | a0003c0010t0013a0003c0010t0027 | a0003c0010t0013g0173 a0003c0010t0027g0119 |
2 | 174 | 0.0115 | 40 | c.267 others(57): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63304346 | C | CGCAGGTG others(33): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 271 | 0.0037 | 40 | c.194 others(55): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63304386 | T | TGCAGGTG others(33): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0103 | 1 | 288 | 0.0035 | 40 | c.194 others(57): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098608 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 | 1 | 256 | 0.0039 | 40 | c.181 others(59): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098664 | T | TATAAATA others(33): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 1 | 191 | 0.0052 | 40 | c.181 others(59): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636480 | A | AGAAAGGA others(33): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0082 | 1 | 112 | 0.0089 | 40 | c.355 others(57): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636532 | A | AAAGGAAA others(33): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02615.hp2 others(4): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0018others(4): Show | a0001c0001t0002a0001c0002t0005a0001c0018t0001others(4): Show | a0001c0001t0002g0020 a0001c0002t0005g0147 a0001c0018t0001g0056 others(4): Show |
7 | 56 | 0.1250 | 40 | c.355 others(57): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636532 | A | AAAGGAAA others(33): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01255.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0013 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0083 a0001c0001t0001g0119 a0001c0001t0001g0130 others(6): Show |
9 | 58 | 0.1552 | 40 | c.355 others(57): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138676454 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01433.hp1 HG02735.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0005a0001c0002t0005a0001c0006t0001others(5): Show | a0001c0001t0005g0142 a0001c0002t0005g0153 a0001c0006t0001g0112 others(6): Show |
9 | 94 | 0.0957 | 40 | c.315 others(57): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138676454 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03492.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0125 a0001c0008t0001g0042 |
2 | 87 | 0.0230 | 40 | c.315 others(57): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138676454 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0031 | a0003c0031t0004 | a0003c0031t0004g0032 | 1 | 86 | 0.0116 | 40 | c.315 others(57): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138806081 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19030.hp2 |
a0002 | a0002c0004a0002c0005 | a0002c0004t0004a0002c0005t0002 | a0002c0004t0004g0084 a0002c0005t0002g0086 |
2 | 106 | 0.0189 | 40 | c.149 others(59): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19065.hp2 |
a0002a0003 | a0002c0002a0003c0019 | a0002c0002t0001a0003c0019t0010 | a0002c0002t0001g0047 a0003c0019t0010g0236 |
2 | 139 | 0.0144 | 40 | c.730 others(55): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0183 | 1 | 37 | 0.0270 | 40 | c.395 others(61): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 121 | 0.0083 | 40 | c.231 others(59): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0008 | a0008c0006 | a0008c0006t0002 | a0008c0006t0002g0047 | 1 | 121 | 0.0083 | 40 | c.231 others(59): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0151 | 1 | 121 | 0.0083 | 40 | c.231 others(59): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108961568 | C | CCTGTTCT others(33): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03704.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0029 | a0001c0003t0001g0097 a0001c0004t0029g0100 |
2 | 43 | 0.0465 | 40 | c.492 others(59): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101494127 | C | CGTTTTGT others(33): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0010 | a0003c0010t0022 | a0003c0010t0022g0122 | 1 | 141 | 0.0071 | 40 | c.386 others(59): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114253295 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0035 | a0035c0170 | a0035c0170t0032 | a0035c0170t0032g0147 | 1 | 130 | 0.0077 | 40 | c.314 others(57): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255579 | A | AGGCAGGC others(33): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02155.hp1 HG02523.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0002c0040others(2): Show | a0001c0003t0001a0002c0002t0002a0002c0040t0002others(2): Show | a0001c0003t0001g0118 a0002c0002t0002g0270 a0002c0040t0002g0272 others(2): Show |
5 | 334 | 0.0150 | 40 | c.85- others(57): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255842 | A | AAGGAAGG others(33): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 342 | 0.0029 | 40 | c.85- others(57): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255884 | A | AAGGGGGA others(33): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01928.hp1 HG02056.hp2 others(28): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0019others(17): Show | a0001c0001t0001a0001c0003t0001a0001c0019t0001others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0046 others(27): Show |
31 | 246 | 0.1260 | 40 | c.85- others(57): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227249212 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 315 | 0.0032 | 40 | c.546 others(55): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0006 | a0006c0016 | a0006c0016t0018 | a0006c0016t0018g0036 | 1 | 56 | 0.0179 | 40 | c.546 others(55): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 56 | 0.0179 | 40 | c.546 others(55): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 56 | 0.0179 | 40 | c.546 others(55): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227045808 | A | ATACACAT others(33): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG01169.hp2 others(9): Show |
a0002a0004a0006others(1): Show | a0002c0002a0004c0004a0006c0005others(1): Show | a0002c0002t0002a0002c0002t0026a0004c0004t0002others(2): Show | a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0087 others(9): Show |
12 | 277 | 0.0433 | 40 | c.328 others(59): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227045967 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03017.hp2 HG06807.hp2 |
a0002a0003 | a0002c0002a0003c0026 | a0002c0002t0002a0003c0026t0001 | a0002c0002t0002g0271 a0002c0002t0002g0272 a0003c0026t0001g0234 |
3 | 133 | 0.0226 | 40 | c.328 others(59): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134691492 | T | TTAAGAGA others(33): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 270 | 0.0037 | 40 | c.277 others(55): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 2/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189094588 | G | GACACACA others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01258.hp1 HG01516.hp2 others(6): Show |
a0001a0013 | a0001c0001a0013c0015 | a0001c0001t0001a0013c0015t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0032 others(6): Show |
9 | 28 | 0.3214 | 40 | c.457 others(57): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 46002718 | T | TGGGGCCG others(33): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 124 | 0.0081 | 40 | c.243 others(55): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46135810 | C | CCCCAGCG others(33): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0313 | 1 | 362 | 0.0028 | 40 | c.*32 others(51): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2963 | chr21 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130636912 | T | TCCCCTCC others(33): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0003 | a0003c0022 | a0003c0022t0010 | a0003c0022t0010g0249 | 1 | 157 | 0.0064 | 40 | c.509 others(59): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318295 | C | CATACATA others(33): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0051 | 1 | 425 | 0.0024 | 40 | c.-10 others(51): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1010 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 129 | 0.0078 | 40 | c.-11 others(51): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 129 | 0.0078 | 40 | c.-11 others(51): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 NA18998.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0013 |
2 | 130 | 0.0154 | 40 | c.-11 others(51): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 129 | 0.0078 | 40 | c.-11 others(51): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar |