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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A4_chr2_226997714_227169205 | 227089588 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02970.hp2 others(1): Show |
a0003a0012a0016others(1): Show | a0003c0003a0012c0011a0016c0064others(1): Show | a0003c0003t0030a0012c0011t0003a0016c0064t0005others(1): Show | a0003c0003t0030g0169a0012c0011t0003g0233a0016c0064t0005g0178others(1): Show | 4 | 284 | 0.0141 | 22 | c.145 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 21/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227089608 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0044 | a0044c0033 | a0044c0033t0032 | a0044c0033t0032g0168 | 1 | 284 | 0.0035 | 22 | c.145 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 21/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0187a0001c0001t0015g0075 | 2 | 269 | 0.0074 | 22 | c.81+ others(39): 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(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0193 | 2 | 269 | 0.0074 | 22 | c.81+ others(39): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134760587 | C | CACCCACA others(15): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 272 | 0.0037 | 22 | c.193 others(41): 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(15): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03831.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0058a0001c0001t0001g0096 | 3 | 248 | 0.0121 | 22 | c.208 others(39): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189094588 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG01981.hp1 HG04199.hp1 NA18984.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0003a0001c0001t0023a0001c0003t0001others(1): Show | a0001c0001t0003g0181a0001c0001t0023g0009a0001c0003t0001g0203others(2): Show | 5 | 248 | 0.0202 | 22 | c.457 others(39): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189157130 | A | ATATATAG others(15): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0026 | a0001c0026t0015 | a0001c0026t0015g0003 | 1 | 248 | 0.0040 | 22 | c.97+ others(39): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9988855 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 |
a0031 | a0031c0043 | a0031c0043t0006a0031c0043t0007 | a0031c0043t0006g0055a0031c0043t0007g0054 | 2 | 412 | 0.0049 | 22 | c.214 others(39): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 27/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9988855 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 HG01175.hp2 others(10): Show |
a0002a0006a0014others(4): Show | a0002c0002a0002c0020a0002c0034others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0020t0001others(8): Show | a0002c0002t0001g0069a0002c0002t0001g0319a0002c0002t0002g0337others(10): Show | 13 | 412 | 0.0316 | 22 | c.214 others(39): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 27/66 | chr19 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45981680 | T | TCCCGCCC others(15): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0097 | 1 | 128 | 0.0078 | 22 | c.-17 others(31): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 89 | chr21 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45987790 | G | GGGGTCCA others(15): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02572.hp2 HG02970.hp2 others(1): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0004 | a0001c0003t0007a0002c0002t0008a0002c0002t0009others(1): Show | a0001c0003t0007g0108a0002c0002t0008g0117a0002c0002t0009g0122others(1): Show | 4 | 128 | 0.0313 | 22 | c.804 others(37): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A1_chr21_45976770_46010048 | 45988187 | G | GGGGTCCA others(15): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0099 | 1 | 128 | 0.0078 | 22 | c.804 others(37): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A3_chr2_237319018_237419164 | 237332070 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02698.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002 | a0002c0001t0001g0255a0002c0001t0002g0289 | 2 | 322 | 0.0062 | 22 | c.932 others(41): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237332117 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18941.hp1 NA19000.hp2 NA19004.hp2 others(1): Show |
a0003a0004 | a0003c0015a0003c0118a0003c0122others(1): Show | a0003c0015t0003a0003c0118t0002a0003c0122t0002others(1): Show | a0003c0015t0003g0199a0003c0118t0002g0061a0003c0122t0002g0078others(1): Show | 4 | 322 | 0.0124 | 22 | c.932 others(41): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130472832 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03139.hp1 NA18990.hp1 |
a0001a0004a0011 | a0001c0001a0004c0003a0011c0012 | a0001c0001t0002a0004c0003t0001a0011c0012t0003 | a0001c0001t0002g0259a0004c0003t0001g0027a0011c0012t0003g0083 | 3 | 292 | 0.0103 | 22 | c.781 others(39): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636918 | C | CCCCCTCC others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19043.hp2 |
a0003a0027 | a0003c0062a0027c0041 | a0003c0062t0004a0027c0041t0001 | a0003c0062t0004g0216a0027c0041t0001g0021 | 2 | 264 | 0.0076 | 22 | c.509 others(41): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636935 | C | CCCCCTCC others(15): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0100 | 1 | 264 | 0.0038 | 22 | c.509 others(41): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130637029 | T | TCCCCTTC others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0014 | a0014c0011 | a0014c0011t0003 | a0014c0011t0003g0179 | 1 | 264 | 0.0038 | 22 | c.509 others(41): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99633643 | G | GTGGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 | 1 | 262 | 0.0038 | 22 | c.-51 others(33): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4950 | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99669146 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 262 | 0.0038 | 22 | c.-12 others(43): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99669146 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 262 | 0.0038 | 22 | c.-12 others(43): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL9A1_chr6_70211126_70308084 | 70227424 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02559.hp2 HG02622.hp2 others(2): Show |
a0002 | a0002c0004a0002c0008a0002c0018 | a0002c0004t0004a0002c0004t0011a0002c0008t0005others(1): Show | a0002c0004t0004g0246a0002c0004t0011g0330a0002c0008t0005g0337others(2): Show | 5 | 362 | 0.0138 | 22 | c.250 others(41): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 36/37 | chr6 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0130 | 1 | 438 | 0.0023 | 22 | c.-11 others(33): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0079 | 2 | 438 | 0.0046 | 22 | c.-11 others(33): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 HG03195.hp2 |
a0003a0008 | a0003c0005a0008c0007 | a0003c0005t0001a0008c0007t0001 | a0003c0005t0001g0110a0008c0007t0001g0024 | 2 | 438 | 0.0046 | 22 | c.-11 others(33): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0095 | 1 | 438 | 0.0023 | 22 | c.-11 others(33): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 388 | 0.0026 | 22 | c.148 others(39): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104a0001c0001t0002g0105a0001c0001t0002g0106others(4): Show | 7 | 388 | 0.0180 | 22 | c.148 others(39): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0137 | 1 | 388 | 0.0026 | 22 | c.148 others(39): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119091595 | G | GAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064a0001c0001t0003g0067a0001c0001t0003g0068others(1): Show | 4 | 388 | 0.0103 | 22 | c.292 others(37): 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(15): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029a0001c0001t0003g0053 | 2 | 388 | 0.0052 | 22 | c.292 others(37): 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(15): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 NA18945.hp2 |
a0001a0003 | a0001c0003a0003c0002 | a0001c0003t0002a0003c0002t0110 | a0001c0003t0002g0124a0003c0002t0110g0084 | 2 | 366 | 0.0055 | 22 | c.*78 others(33): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 4529 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319331 | A | AATATATA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0001 | a0002c0001t0103 | a0002c0001t0103g0200 | 1 | 366 | 0.0027 | 22 | c.*71 others(31): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 713 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 477490 | A | ATGTTACC others(15): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02622.hp1 others(4): Show |
a0001a0002a0003 | a0001c0004a0001c0005a0002c0001others(1): Show | a0001c0004t0191a0001c0005t0247a0001c0005t0248others(4): Show | a0001c0004t0191g0118a0001c0005t0247g0355a0001c0005t0248g0357others(4): Show | 7 | 366 | 0.0191 | 22 | c.58+ others(37): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 183977804 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0236a0001c0001t0009g0227 | 2 | 340 | 0.0059 | 22 | c.374 others(37): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 183977812 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02738.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0305a0001c0001t0011g0026a0001c0001t0011g0058 | 3 | 340 | 0.0088 | 22 | c.374 others(37): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 184037754 | A | AGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 | 1 | 340 | 0.0029 | 22 | c.-39 others(31): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 27 | chr1 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116140231 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02809.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0330a0001c0005t0001g0104a0001c0005t0001g0105 | 3 | 350 | 0.0086 | 22 | c.510 others(39): 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(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02129.hp2 HG02280.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(18): Show | 21 | 350 | 0.0600 | 22 | c.510 others(41): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116212522 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01123.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0006 | a0001c0001t0001g0347a0001c0002t0001g0097a0001c0002t0001g0106others(15): Show | 18 | 350 | 0.0514 | 22 | c.510 others(41): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 61920965 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02896.hp2 HG02897.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0257a0001c0001t0002g0253a0001c0001t0002g0254others(7): Show | 10 | 286 | 0.0350 | 22 | c.180 others(41): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 62063868 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02451.hp2 NA19060.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0104a0001c0001t0001g0131others(2): Show | 5 | 286 | 0.0175 | 22 | c.462 others(41): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 62095807 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0125a0001c0001t0001g0236a0001c0001t0003g0039others(5): Show | 8 | 286 | 0.0280 | 22 | c.463 others(41): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD7_chr20_32697699_32748467 | 32705312 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0109a0001c0001t0003g0007a0001c0001t0003g0295others(7): Show | 11 | 400 | 0.0275 | 22 | c.337 others(37): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 5/8 | chr20 | TogoVar | ||||||
COMMD7_chr20_32697699_32748467 | 32705358 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 400 | 0.0025 | 22 | c.337 others(37): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 5/8 | chr20 | TogoVar | ||||||
COMMD8_chr4_47445787_47468702 | 47447372 | G | GACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 396 | 0.0051 | 22 | c.*42 others(33): Show |
COMMD8 | ENSG00000169019.11 | transcript | ENST00000381571.6 | protein_coding | 3414 | chr4 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36270137 | T | TAGAGAGA others(15): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01346.hp2 HG01515.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(9): Show | 16 | 448 | 0.0357 | 22 | c.*44 others(33): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 2154 | chr11 | TogoVar | ||||||
COMP_chr19_18777773_18796305 | 18786763 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0010a0001c0006t0001g0147 | 6 | 398 | 0.0151 | 22 | c.113 others(39): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 10/18 | chr19 | TogoVar | ||||||
COMP_chr19_18777773_18796305 | 18787864 | C | CTTTTTCT others(15): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02273.hp1 HG02622.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0030others(5): Show | 13 | 398 | 0.0327 | 22 | c.976 others(37): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 9/18 | chr19 | TogoVar |