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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL26A1_chr7_101357875_101564024 | 101466837 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135 | 1 | 174 | 0.0058 | 16 | c.385 others(35): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101466837 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0064a0001c0001t0009g0159 | 2 | 174 | 0.0115 | 16 | c.385 others(35): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101476142 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0131 | 1 | 174 | 0.0058 | 16 | c.385 others(35): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101483990 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02055.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0011 | a0001c0001t0008a0001c0001t0011a0002c0004t0001others(1): Show | a0001c0001t0008g0169a0001c0001t0011g0120a0002c0004t0001g0070others(3): Show | 6 | 174 | 0.0345 | 16 | c.385 others(35): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101489660 | T | TCTTTCTT others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0119 | 1 | 174 | 0.0058 | 16 | c.385 others(35): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0010 | a0003c0010t0022 | a0003c0010t0022g0166 | 1 | 174 | 0.0058 | 16 | c.386 others(35): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101520633 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02109.hp1 HG02258.hp1 others(8): Show |
a0001a0002 | a0001c0005a0001c0012a0001c0014others(3): Show | a0001c0005t0005a0001c0005t0023a0001c0012t0010others(5): Show | a0001c0005t0005g0106a0001c0005t0023g0116a0001c0012t0010g0002others(8): Show | 11 | 174 | 0.0632 | 16 | c.386 others(35): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114166368 | A | AATCCATC others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp1 others(51): Show |
a0001a0002a0003others(10): Show | a0001c0016a0001c0040a0002c0001others(33): Show | a0001c0016t0012a0001c0040t0002a0002c0001t0003others(42): Show | a0001c0016t0012g0145a0001c0040t0002g0128a0002c0001t0003g0303others(50): Show | 54 | 308 | 0.1753 | 16 | c.134 others(33): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114166368 | A | AATCCATC others(9): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG01981.hp1 others(2): Show |
a0010a0017 | a0010c0025a0010c0048a0010c0181others(2): Show | a0010c0025t0003a0010c0048t0006a0010c0181t0001others(2): Show | a0010c0025t0003g0183a0010c0048t0006g0175a0010c0181t0001g0176others(2): Show | 5 | 308 | 0.0162 | 16 | c.134 others(33): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114166444 | T | TATCCATC others(9): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0007 | a0007c0011 | a0007c0011t0005 | a0007c0011t0005g0263 | 1 | 308 | 0.0033 | 16 | c.134 others(33): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114166445 | A | ATCCATCC others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01256.hp2 HG01258.hp2 others(17): Show |
a0005a0008a0010others(5): Show | a0005c0030a0005c0055a0005c0056others(14): Show | a0005c0030t0001a0005c0055t0003a0005c0056t0002others(16): Show | a0005c0030t0001g0021a0005c0055t0003g0038a0005c0056t0002g0036others(17): Show | 20 | 308 | 0.0649 | 16 | c.134 others(33): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114253295 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01071.hp1 others(40): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0003a0001c0040others(32): Show | a0001c0002t0025a0001c0003t0003a0001c0040t0002others(36): Show | a0001c0002t0025g0111a0001c0003t0003g0115a0001c0040t0002g0128others(40): Show | 43 | 308 | 0.1396 | 16 | c.314 others(33): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7368389 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02257.hp1 others(25): Show |
a0001a0002a0003others(10): Show | a0001c0007a0002c0004a0002c0049others(11): Show | a0001c0007t0003a0002c0004t0003a0002c0049t0003others(12): Show | a0001c0007t0003g0102a0001c0007t0003g0175a0001c0007t0003g0176others(25): Show | 28 | 196 | 0.1429 | 16 | c.306 others(35): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 33/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7372398 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01516.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110a0002c0002t0002g0112 | 2 | 196 | 0.0102 | 16 | c.290 others(33): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 32/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7374038 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG03453.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0032a0002c0004t0003g0068a0002c0004t0003g0070 | 3 | 196 | 0.0153 | 16 | c.236 others(33): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7374038 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0044 | 1 | 196 | 0.0051 | 16 | c.236 others(33): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7383682 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0035 | a0035c0041 | a0035c0041t0001 | a0035c0041t0001g0133 | 1 | 196 | 0.0051 | 16 | c.213 others(35): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7497094 | A | AAAGGAAG others(9): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 196 | 0.0051 | 16 | c.102 others(35): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 11/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7522806 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0010 | 1 | 196 | 0.0051 | 16 | c.703 others(31): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 4/34 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 48008121 | G | GAAAGAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0051 | a0001c0051t0001 | a0001c0051t0001g0205 | 1 | 414 | 0.0024 | 16 | c.-38 others(27): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3646 | chr12 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 48008136 | G | GAAGAAAG others(9): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 NA18979.hp2 |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0002a0003c0005t0002 | a0002c0001t0002g0105a0003c0005t0002g0060 | 2 | 414 | 0.0048 | 16 | c.-38 others(27): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3661 | chr12 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188972936 | C | CAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02257.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0001 | a0001c0001t0001g0095a0001c0001t0001g0099a0001c0001t0001g0185others(4): Show | 7 | 376 | 0.0186 | 16 | c.-15 others(27): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1436 | chr2 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 189013488 | A | AATATATA others(9): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 376 | 0.0027 | 16 | c.*17 others(27): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 743 | chr2 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110169497 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0081 | a0003c0081t0009 | a0003c0081t0009g0183 | 1 | 344 | 0.0029 | 16 | c.387 others(33): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 43/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110169929 | G | GAGGGAGG others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 |
a0003 | a0003c0086a0003c0094 | a0003c0086t0001a0003c0094t0002 | a0003c0086t0001g0219a0003c0094t0002g0311 | 2 | 344 | 0.0058 | 16 | c.374 others(33): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 42/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110170117 | G | GGAAGGAA others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01074.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0010a0001c0016others(8): Show | a0001c0003t0001a0001c0010t0001a0001c0016t0003others(9): Show | a0001c0003t0001g0118a0001c0010t0001g0049a0001c0010t0001g0052others(18): Show | 21 | 344 | 0.0611 | 16 | c.374 others(33): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 42/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110198078 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02523.hp2 NA19012.hp2 |
a0002a0003 | a0002c0002a0002c0004a0003c0084 | a0002c0002t0002a0002c0004t0001a0003c0084t0002 | a0002c0002t0002g0304a0002c0004t0001g0214a0003c0084t0002g0328 | 3 | 344 | 0.0087 | 16 | c.128 others(33): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 21/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110247790 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0002 | a0002c0047 | a0002c0047t0002 | a0002c0047t0002g0337a0002c0047t0002g0338 | 2 | 344 | 0.0058 | 16 | c.85- others(31): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(9): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0093 | 1 | 344 | 0.0029 | 16 | c.85- others(33): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110452120 | T | TTTTGTTT others(9): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0119 | a0001c0119t0032 | a0001c0119t0032g0005 | 1 | 372 | 0.0027 | 16 | c.133 others(35): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110509245 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01168.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0005a0001c0002t0005a0001c0003t0003others(16): Show | a0001c0001t0005g0115a0001c0002t0005g0215a0001c0002t0005g0216others(20): Show | 24 | 372 | 0.0645 | 16 | c.488 others(35): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193731 | A | AGGAGGGA others(9): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01256.hp1 HG02040.hp2 others(10): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0004a0007c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(6): Show | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0230others(10): Show | 13 | 344 | 0.0378 | 16 | c.87+ others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227195665 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0211 | 1 | 344 | 0.0029 | 16 | c.87+ others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227195667 | A | ATATGTGT others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0004 | 1 | 344 | 0.0029 | 16 | c.87+ others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202843 | A | ATATGTGT others(9): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0234 | 1 | 344 | 0.0029 | 16 | c.88- others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203214 | C | CATATATG others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 NA18954.hp2 NA18959.hp1 |
a0001a0002a0009 | a0001c0001a0002c0004a0009c0008 | a0001c0001t0001a0002c0004t0003a0009c0008t0001 | a0001c0001t0001g0184a0002c0004t0003g0125a0009c0008t0001g0077 | 3 | 344 | 0.0087 | 16 | c.88- others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203317 | A | ATACACAT others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02895.hp1 others(1): Show |
a0002a0003 | a0002c0004a0003c0011 | a0002c0004t0013a0003c0011t0003 | a0002c0004t0013g0339a0002c0004t0013g0340a0003c0011t0003g0010others(1): Show | 4 | 344 | 0.0116 | 16 | c.88- others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203363 | A | ATACACAT others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02818.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0002c0007others(3): Show | a0001c0001t0016a0002c0004t0001a0002c0004t0008others(5): Show | a0001c0001t0016g0048a0001c0001t0016g0093a0002c0004t0001g0168others(8): Show | 11 | 344 | 0.0320 | 16 | c.88- others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203493 | A | ATGTACAT others(9): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0040 | a0003c0040t0014 | a0003c0040t0014g0038 | 1 | 344 | 0.0029 | 16 | c.88- others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227211649 | T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 |
a0006 | a0006c0010a0006c0013 | a0006c0010t0006a0006c0013t0001 | a0006c0010t0006g0156a0006c0013t0001g0329 | 2 | 344 | 0.0058 | 16 | c.88- others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227218080 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0004 | a0004c0003 | a0004c0003t0019 | a0004c0003t0019g0105 | 1 | 344 | 0.0029 | 16 | c.88- others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227235144 | A | ACTGAGGA others(9): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02723.hp1 HG02809.hp1 others(3): Show |
a0001a0002a0003 | a0001c0042a0002c0007a0002c0027others(2): Show | a0001c0042t0015a0002c0007t0001a0002c0027t0012others(3): Show | a0001c0042t0015g0331a0002c0007t0001g0311a0002c0027t0012g0011others(3): Show | 6 | 344 | 0.0174 | 16 | c.88- others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227249212 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0192 | 1 | 344 | 0.0029 | 16 | c.546 others(31): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227274238 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(69): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0047a0002c0027others(15): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0002g0033a0001c0001t0002g0050a0001c0001t0002g0056others(69): Show | 72 | 344 | 0.2093 | 16 | c.192 others(35): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 26/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227302677 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02145.hp1 HG02257.hp1 others(16): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0003c0002others(4): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0008others(6): Show | a0001c0001t0001g0120a0001c0001t0001g0131a0001c0001t0001g0186others(16): Show | 19 | 344 | 0.0552 | 16 | c.388 others(33): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227318409 | G | GTGGCTCA others(9): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 HG02071.hp2 HG02132.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0002a0007c0006t0005 | a0001c0001t0002g0180a0001c0001t0002g0236a0001c0001t0002g0291others(1): Show | 4 | 344 | 0.0116 | 16 | c.*65 others(27): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 3618 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227031041 | A | AGATGGAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(108): Show |
a0001a0002a0003others(21): Show | a0001c0001a0002c0002a0002c0021others(31): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(41): Show | a0001c0001t0001g0108a0002c0002t0002g0008a0002c0002t0002g0014others(108): Show | 111 | 284 | 0.3909 | 16 | c.381 others(33): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 40/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227031069 | G | GGATGGAT others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 HG03195.hp2 others(2): Show |
a0004a0008 | a0004c0004a0004c0051a0008c0008 | a0004c0004t0005a0004c0051t0005a0008c0008t0004 | a0004c0004t0005g0030a0004c0004t0005g0234a0004c0051t0005g0023others(2): Show | 5 | 284 | 0.0176 | 16 | c.381 others(33): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 40/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041720 | G | GAGGAAGG others(9): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19064.hp2 |
a0019 | a0019c0025 | a0019c0025t0002 | a0019c0025t0002g0198a0019c0025t0002g0261 | 2 | 284 | 0.0070 | 16 | c.350 others(33): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041787 | G | GAAGGAAG others(9): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19043.hp2 |
a0001a0010 | a0001c0010a0010c0018 | a0001c0010t0005a0010c0018t0004 | a0001c0010t0005g0276a0010c0018t0004g0157 | 2 | 284 | 0.0070 | 16 | c.350 others(33): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar |