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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A1_chr13_110143963_110312157 | 110253568 | A | ATTATATA others(10): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0179 | 1 | 344 | 0.0029 | 17 | c.85- others(34): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110446532 | C | CTGGCATT others(10): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0333 | 1 | 372 | 0.0027 | 17 | c.101 others(34): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227176049 | C | CAGGCCAG others(10): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(26): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0047a0002c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(15): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(26): Show | 29 | 344 | 0.0843 | 17 | c.87+ others(34): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0179 | 1 | 344 | 0.0029 | 17 | c.546 others(32): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0033 | a0033c0030 | a0033c0030t0011 | a0033c0030t0011g0043 | 1 | 344 | 0.0029 | 17 | c.546 others(32): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227302677 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00735.hp1 others(26): Show |
a0001a0002a0009others(3): Show | a0001c0001a0002c0004a0002c0007others(4): Show | a0001c0001t0001a0001c0001t0024a0002c0004t0008others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0100others(26): Show | 29 | 344 | 0.0843 | 17 | c.388 others(34): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227009713 | G | GGAAAAGA others(10): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03139.hp2 NA18906.hp1 others(1): Show |
a0020a0035a0044 | a0020c0041a0020c0054a0035c0037others(1): Show | a0020c0041t0010a0020c0054t0010a0035c0037t0016others(1): Show | a0020c0041t0010g0028a0020c0054t0010g0020a0035c0037t0016g0003others(1): Show | 4 | 284 | 0.0141 | 17 | c.452 others(34): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 46/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 269 | 0.0037 | 17 | c.81+ others(34): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG00738.hp1 others(7): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0006a0001c0012t0001 | a0001c0001t0001g0058a0001c0001t0001g0080a0001c0001t0001g0081others(7): Show | 10 | 269 | 0.0372 | 17 | c.81+ others(34): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00673.hp1 others(23): Show |
a0001a0006a0009 | a0001c0001a0006c0017a0009c0015 | a0001c0001t0001a0006c0017t0001a0009c0015t0001 | a0001c0001t0001g0043a0001c0001t0001g0076a0001c0001t0001g0084others(23): Show | 26 | 269 | 0.0967 | 17 | c.81+ others(34): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 269 | 0.0037 | 17 | c.81+ others(34): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134759271 | T | TACACACA others(10): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0003a0001c0005t0006a0001c0005t0014others(1): Show | a0001c0005t0003g0265a0001c0005t0006g0040a0001c0005t0014g0258others(1): Show | 4 | 272 | 0.0147 | 17 | c.193 others(34): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134759272 | A | ACACACAT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01167.hp2 others(14): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(13): Show | a0001c0001t0001g0147a0001c0001t0004g0102a0001c0001t0009g0233others(14): Show | 17 | 272 | 0.0625 | 17 | c.193 others(34): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134759642 | A | ACACACAT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp1 others(80): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(63): Show | a0001c0001t0001g0125a0001c0001t0001g0147a0001c0001t0004g0102others(79): Show | 83 | 272 | 0.3052 | 17 | c.193 others(36): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A2_chr2_189026898_189184761 | 189059585 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00621.hp2 others(21): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0018others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0032a0001c0001t0001g0042others(21): Show | 24 | 248 | 0.0968 | 17 | c.208 others(34): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9970057 | C | CTGGGTGA others(10): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04204.hp2 |
a0001a0005 | a0001c0117a0005c0005 | a0001c0117t0005a0005c0005t0017 | a0001c0117t0005g0248a0005c0005t0017g0184 | 2 | 412 | 0.0049 | 17 | c.393 others(34): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9970255 | G | GTGGGGGC others(10): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01069.hp2 others(26): Show |
a0009a0010a0035others(3): Show | a0009c0007a0009c0048a0010c0015others(8): Show | a0009c0007t0001a0009c0007t0005a0009c0007t0010others(14): Show | a0009c0007t0001g0220a0009c0007t0001g0221a0009c0007t0001g0229others(26): Show | 29 | 412 | 0.0704 | 17 | c.393 others(34): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9970412 | A | AGTGGGGT others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02145.hp2 HG02615.hp1 others(4): Show |
a0001a0005a0059 | a0001c0033a0001c0045a0001c0089others(3): Show | a0001c0033t0002a0001c0045t0001a0001c0045t0002others(4): Show | a0001c0033t0002g0153a0001c0045t0001g0140a0001c0045t0002g0032others(4): Show | 7 | 412 | 0.0170 | 17 | c.393 others(34): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9977985 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01928.hp2 |
a0001a0007 | a0001c0001a0007c0023 | a0001c0001t0001a0007c0023t0003 | a0001c0001t0001g0090a0007c0023t0003g0269 | 2 | 412 | 0.0049 | 17 | c.301 others(34): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 41/66 | chr19 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45977769 | A | AGGAGAGA others(10): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02965.hp1 |
a0001a0003 | a0001c0018a0003c0004 | a0001c0018t0001a0003c0004t0001 | a0001c0018t0001g0049a0003c0004t0001g0066 | 2 | 128 | 0.0156 | 17 | c.-40 others(28): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 4000 | chr21 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45980908 | T | TCTCTCTG others(10): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0030 | 1 | 128 | 0.0078 | 17 | c.-94 others(26): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 861 | chr21 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45981688 | C | CCCTCCCG others(10): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0033 | 1 | 128 | 0.0078 | 17 | c.-16 others(26): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 81 | chr21 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237332117 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18981.hp2 NA18998.hp2 others(3): Show |
a0001a0012a0026others(1): Show | a0001c0002a0012c0013a0026c0035others(1): Show | a0001c0002t0002a0001c0002t0006a0012c0013t0002others(2): Show | a0001c0002t0002g0146a0001c0002t0006g0005a0012c0013t0002g0014others(3): Show | 6 | 322 | 0.0186 | 17 | c.932 others(36): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130362252 | T | TCTCTCTC others(10): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0016 | a0016c0020 | a0016c0020t0001 | a0016c0020t0001g0273 | 1 | 292 | 0.0034 | 17 | c.-28 others(36): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130635724 | C | CAGGAGAG others(10): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0036 | a0036c0068 | a0036c0068t0002 | a0036c0068t0002g0079 | 1 | 264 | 0.0038 | 17 | c.505 others(26): Show |
p.Gly others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/37 | 5327/8689 | 5075/6792 | 1692/2263 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
COL6A6_chr3_130512177_130682042 | 130636798 | C | CCCCCTCC others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01071.hp2 others(5): Show |
a0005a0009a0011 | a0005c0003a0009c0055a0011c0008 | a0005c0003t0001a0005c0003t0002a0005c0003t0004others(3): Show | a0005c0003t0001g0151a0005c0003t0001g0152a0005c0003t0001g0153others(5): Show | 8 | 264 | 0.0303 | 17 | c.509 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636857 | T | TCCCCTTC others(10): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0013 | a0003c0013t0014 | a0003c0013t0014g0031 | 1 | 264 | 0.0038 | 17 | c.509 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636939 | C | CTCCCCCT others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18949.hp2 |
a0001 | a0001c0001a0001c0056 | a0001c0001t0001a0001c0056t0002 | a0001c0001t0001g0135a0001c0056t0002g0059 | 2 | 264 | 0.0076 | 17 | c.509 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 | 1 | 262 | 0.0038 | 17 | c.-3- others(34): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 | 1 | 438 | 0.0023 | 17 | c.-11 others(28): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321122 | A | AAAATTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 438 | 0.0023 | 17 | c.-39 others(28): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321122 | A | AATTATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01257.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0010t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0016others(11): Show | 18 | 438 | 0.0411 | 17 | c.-39 others(28): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62826520 | G | GGCTGATG others(10): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0040 | 1 | 412 | 0.0024 | 17 | c.739 others(32): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 14/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 388 | 0.0026 | 17 | c.148 others(34): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01517.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123a0001c0001t0002g0124a0001c0001t0002g0125others(6): Show | 9 | 388 | 0.0232 | 17 | c.148 others(34): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0148a0001c0001t0002g0149a0001c0001t0016g0150 | 3 | 388 | 0.0077 | 17 | c.148 others(34): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 319331 | A | ATATATAT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0002 | a0003c0002t0106 | a0003c0002t0106g0245 | 1 | 366 | 0.0027 | 17 | c.*71 others(26): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 713 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 502305 | G | GCTTTCTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0002 | a0003c0002t0212 | a0003c0002t0212g0152 | 1 | 366 | 0.0027 | 17 | c.-17 others(28): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1605 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 502305 | G | GCTTTCTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0006 | a0004c0006t0128 | a0004c0006t0128g0128 | 1 | 366 | 0.0027 | 17 | c.-17 others(28): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1605 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 502328 | T | TTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG02257.hp2 HG02717.hp2 |
a0004a0012 | a0004c0006a0012c0024 | a0004c0006t0202a0004c0006t0215a0012c0024t0114 | a0004c0006t0202g0342a0004c0006t0215g0341a0012c0024t0114g0151 | 3 | 366 | 0.0082 | 17 | c.-18 others(28): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1628 | chr18 | TogoVar | ||||||
COLGALT1_chr19_17550649_17588157 | 17559602 | C | CAACCTTC others(10): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 396 | 0.0025 | 17 | c.371 others(32): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
COLGALT2_chr1_183930834_184042728 | 183977812 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18961.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0004a0001c0016t0043 | a0001c0001t0004g0077a0001c0016t0043g0274 | 2 | 340 | 0.0059 | 17 | c.374 others(32): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116295608 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 350 | 0.0029 | 17 | c.*31 others(28): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116295608 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 350 | 0.0029 | 17 | c.*31 others(28): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116295608 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 NA21309.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0012a0002c0003t0001g0056 | 2 | 350 | 0.0057 | 17 | c.*31 others(28): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 2322 | chr5 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62014542 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0265a0001c0003t0001g0270 | 2 | 286 | 0.0070 | 17 | c.462 others(36): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD4_chr15_75331063_75345273 | 75336566 | T | TATCCATC others(10): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 430 | 0.0023 | 17 | c.3+4 others(28): Show |
COMMD4 | ENSG00000140365.16 | transcript | ENST00000267935.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
COMMD7_chr20_32697699_32748467 | 32737379 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01358.hp2 HG02027.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(30): Show | 37 | 400 | 0.0925 | 17 | c.84+ others(32): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
COMMD8_chr4_47445787_47468702 | 47447407 | A | ACACACAC others(10): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 NA19055.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0077a0001c0001t0001g0093 | 3 | 396 | 0.0076 | 17 | c.*42 others(28): Show |
COMMD8 | ENSG00000169019.11 | transcript | ENST00000381571.6 | protein_coding | 3379 | chr4 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 175949168 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02809.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0011a0001c0002t0002g0014others(3): Show | 6 | 300 | 0.0200 | 17 | c.213 others(36): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar |