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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL6A2_chr21_46093112_46137848 | 46135836 | T | TCCCAGCC others(7): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01928.hp2 HG02273.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0010 a0001c0001t0001g0135 a0001c0001t0001g0136 others(5): Show |
8 | 364 | 0.0220 | 14 | c.*32 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2989 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46135877 | T | TCCCAGCC others(7): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0222 | 1 | 364 | 0.0028 | 14 | c.*33 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3030 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46135886 | C | CCCCTCCC others(7): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0297 | 1 | 364 | 0.0028 | 14 | c.*33 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3039 | chr21 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237332070 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02257.hp1 HG02922.hp1 others(6): Show |
a0002a0004a0041others(2): Show | a0002c0001a0002c0022a0004c0016others(4): Show | a0002c0001t0001a0002c0001t0002a0002c0022t0002others(5): Show | a0002c0001t0001g0262 a0002c0001t0001g0276 a0002c0001t0002g0241 others(6): Show |
9 | 322 | 0.0280 | 14 | c.932 others(33): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237332117 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01346.hp2 HG01884.hp1 others(5): Show |
a0001a0003a0004others(3): Show | a0001c0037a0003c0005a0003c0015others(4): Show | a0001c0037t0003a0003c0005t0003a0003c0015t0001others(4): Show | a0001c0037t0003g0022 a0003c0005t0003g0156 a0003c0015t0001g0272 others(5): Show |
8 | 322 | 0.0248 | 14 | c.932 others(33): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A5_chr3_130340672_130489846 | 130362252 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02280.hp2 HG02647.hp1 others(3): Show |
a0031a0034a0060others(2): Show | a0031c0033a0034c0032a0060c0072others(2): Show | a0031c0033t0008a0034c0032t0001a0060c0072t0001others(2): Show | a0031c0033t0008g0173 a0031c0033t0008g0174 a0034c0032t0001g0181 others(3): Show |
6 | 292 | 0.0206 | 14 | c.-28 others(33): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130439339 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19005.hp1 NA19062.hp1 others(1): Show |
a0013a0014 | a0013c0016a0014c0013 | a0013c0016t0001a0014c0013t0001 | a0013c0016t0001g0144 a0014c0013t0001g0098 a0014c0013t0001g0145 others(1): Show |
4 | 292 | 0.0137 | 14 | c.573 others(31): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130472832 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00639.hp1 others(29): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0014a0002c0002others(20): Show | a0001c0001t0002a0001c0014t0002a0002c0002t0001others(22): Show | a0001c0001t0002g0198 a0001c0001t0002g0242 a0001c0001t0002g0246 others(29): Show |
32 | 292 | 0.1096 | 14 | c.781 others(31): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130531054 | A | AGTCTCTC others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG03195.hp1 |
a0003a0013 | a0003c0072a0013c0027 | a0003c0072t0004a0013c0027t0004a0013c0027t0011 | a0003c0072t0004g0200 a0013c0027t0004g0199 a0013c0027t0011g0244 |
3 | 264 | 0.0114 | 14 | c.-32 others(33): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130599014 | A | ATCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0006 | a0006c0068 | a0006c0068t0029 | a0006c0068t0029g0259 | 1 | 264 | 0.0038 | 14 | c.459 others(31): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 19/36 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130637082 | T | TTCTCTCC others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG02015.hp1 others(20): Show |
a0001a0004a0011others(7): Show | a0001c0001a0001c0056a0004c0004others(8): Show | a0001c0001t0005a0001c0056t0002a0004c0004t0001others(16): Show | a0001c0001t0005g0061 a0001c0056t0002g0059 a0004c0004t0001g0172 others(20): Show |
23 | 264 | 0.0871 | 14 | c.509 others(33): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130642243 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03579.hp2 HG06807.hp1 |
a0003a0026 | a0003c0061a0026c0035 | a0003c0061t0015a0026c0035t0001 | a0003c0061t0015g0196 a0026c0035t0001g0002 |
3 | 264 | 0.0114 | 14 | c.515 others(31): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99633643 | G | GTGGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01361.hp2 HG01934.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0002g0162 others(14): Show |
17 | 262 | 0.0649 | 14 | c.-51 others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4950 | chr3 | TogoVar | |||||||
COL8A1_chr3_99633594_99804217 | 99633643 | G | GTGTGGTG others(7): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 a0001c0001t0003g0200 |
2 | 262 | 0.0076 | 14 | c.-51 others(25): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4950 | chr3 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70215912 | A | AACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0017a0001c0030others(10): Show | a0001c0001t0002a0001c0001t0009a0001c0017t0002others(11): Show | a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0062 others(69): Show |
73 | 362 | 0.2017 | 14 | c.*98 others(23): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 213 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70227424 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03540.hp1 |
a0003a0013 | a0003c0003a0013c0027 | a0003c0003t0010a0013c0027t0001 | a0003c0003t0010g0241 a0013c0027t0001g0249 |
2 | 362 | 0.0055 | 14 | c.250 others(33): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 36/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70240612 | T | TTAGAAGT others(7): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0057 | 1 | 362 | 0.0028 | 14 | c.207 others(29): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 32/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70267319 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0252 | 1 | 362 | 0.0028 | 14 | c.128 others(31): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 17/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70267327 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0059 | 1 | 362 | 0.0028 | 14 | c.128 others(31): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 17/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70293631 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0255 | 1 | 362 | 0.0028 | 14 | c.696 others(29): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 5/37 | chr6 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40314633 | A | AGGTACAG others(7): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0143 | 1 | 438 | 0.0023 | 14 | c.151 others(29): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 2/31 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318310 | A | ATTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0074 | 1 | 438 | 0.0023 | 14 | c.-11 others(25): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1025 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321122 | A | AAATTATA others(7): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 NA18945.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0009 a0002c0001t0001g0011 |
2 | 438 | 0.0046 | 14 | c.-39 others(25): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321123 | T | TTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0010 | 1 | 438 | 0.0023 | 14 | c.-39 others(25): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3838 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321158 | T | TATATATA others(7): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02523.hp1 HG03704.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 a0001c0002t0001g0037 a0001c0002t0001g0047 |
5 | 438 | 0.0114 | 14 | c.-39 others(25): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3873 | chr1 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 388 | 0.0026 | 14 | c.148 others(31): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119070446 | G | GCTCTCTC others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0237 a0001c0001t0006g0171 |
2 | 388 | 0.0052 | 14 | c.148 others(31): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119091573 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0342 | 1 | 388 | 0.0026 | 14 | c.292 others(29): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119091595 | G | GAGAGAGA others(7): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 388 | 0.0026 | 14 | c.292 others(29): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 312207 | G | GATATATA others(7): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0001 | a0002c0001t0222 | a0002c0001t0222g0346 | 1 | 366 | 0.0027 | 14 | c.*78 others(25): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 4529 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 319323 | A | AATATATA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0002 | a0003c0002t0102 | a0003c0002t0102g0263 | 1 | 366 | 0.0027 | 14 | c.*72 others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 721 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319329 | A | AATATATA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0004 | a0001c0004t0052 | a0001c0004t0052g0005 | 1 | 366 | 0.0027 | 14 | c.*71 others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 715 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319331 | A | AATATATA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0002 | a0003c0002t0116 | a0003c0002t0116g0020 | 1 | 366 | 0.0027 | 14 | c.*71 others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 713 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 473364 | C | CCAGCTCA others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0005 | a0001c0005t0247 | a0001c0005t0247g0355 | 1 | 366 | 0.0027 | 14 | c.58+ others(29): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 497383 | G | GGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03098.hp2 |
a0001a0003 | a0001c0003a0003c0002 | a0001c0003t0038a0003c0002t0226 | a0001c0003t0038g0016 a0003c0002t0226g0338 |
2 | 366 | 0.0055 | 14 | c.7+3 others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 498377 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 |
a0002a0003 | a0002c0001a0003c0002 | a0002c0001t0101a0003c0002t0204 | a0002c0001t0101g0079 a0003c0002t0204g0007 |
2 | 366 | 0.0055 | 14 | c.7+2 others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 502330 | T | TTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0003 | a0003c0002 | a0003c0002t0110 | a0003c0002t0110g0084 | 1 | 366 | 0.0027 | 14 | c.-18 others(25): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1630 | chr18 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 183977804 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0210 | 1 | 340 | 0.0029 | 14 | c.374 others(29): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 183977812 | A | AAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00673.hp1 others(6): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0182 a0001c0001t0003g0153 a0001c0001t0004g0012 others(6): Show |
9 | 340 | 0.0265 | 14 | c.374 others(29): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184037754 | A | AGTGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 NA18977.hp2 NA18999.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0120 a0001c0001t0003g0136 a0001c0001t0005g0117 others(1): Show |
4 | 340 | 0.0118 | 14 | c.-39 others(23): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 27 | chr1 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116140229 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02280.hp1 HG02647.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0002c0003t0001g0052 |
3 | 350 | 0.0086 | 14 | c.510 others(31): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116140231 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0004 a0001c0001t0001g0335 a0001c0001t0001g0337 others(2): Show |
5 | 350 | 0.0143 | 14 | c.510 others(31): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116158152 | C | CCCTCCCT others(7): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0061 | 1 | 350 | 0.0029 | 14 | c.510 others(33): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116158160 | C | CCTCTCCT others(7): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 350 | 0.0029 | 14 | c.510 others(33): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116212496 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00639.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0080 a0001c0001t0001g0322 a0001c0001t0002g0292 others(32): Show |
36 | 350 | 0.1029 | 14 | c.510 others(33): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116295583 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 350 | 0.0029 | 14 | c.*30 others(25): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2297 | chr5 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116295608 | A | AAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 HG02647.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0214 others(3): Show |
6 | 350 | 0.0171 | 14 | c.*31 others(25): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116295608 | A | AAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 HG02148.hp1 NA18612.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0218 others(6): Show |
9 | 350 | 0.0257 | 14 | c.*31 others(25): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116295608 | A | AAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG02717.hp1 HG02723.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0226 a0001c0001t0002g0293 a0001c0001t0002g0295 others(3): Show |
6 | 350 | 0.0171 | 14 | c.*31 others(25): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar | |||||||
COMMD1_chr2_61900674_62141058 | 61990903 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 286 | 0.0035 | 14 | c.181 others(31): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |