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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL25A1_chr4_108803725_109307658 | 109057421 | A | ATTTTT | intron_variant | MODIFIER | HG00558.hp2 HG02630.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0121a0001c0001t0002g0063a0001c0001t0005g0078others(2): Show | 5 | 130 | 0.0385 | 5 | c.368 others(22): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109073534 | A | ATTGTT | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG01981.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0041a0001c0001t0001g0074a0001c0001t0001g0080others(25): Show | 28 | 130 | 0.2154 | 5 | c.368 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109083448 | A | ATTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01981.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0002t0005others(2): Show | a0001c0001t0004g0004a0001c0001t0011g0044a0001c0001t0011g0047others(3): Show | 6 | 130 | 0.0462 | 5 | c.368 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109187244 | A | ATCTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(83): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0048a0001c0001t0001g0059a0001c0001t0001g0062others(83): Show | 86 | 130 | 0.6615 | 5 | c.367 others(26): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109194551 | T | TGAGAA | intron_variant | MODIFIER | HG00558.hp2 HG03579.hp1 HG03704.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0026a0001c0002t0007others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0026g0046others(2): Show | 5 | 130 | 0.0385 | 5 | c.367 others(26): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109198196 | A | ACAGGC | intron_variant | MODIFIER | HG00558.hp2 HG03704.hp2 HG03710.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0007a0001c0004t0004 | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0002t0007g0115others(1): Show | 4 | 130 | 0.0308 | 5 | c.367 others(26): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109208483 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01891.hp1 HG02145.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0059a0001c0001t0001g0069a0001c0001t0001g0074others(17): Show | 20 | 130 | 0.1539 | 5 | c.367 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109222059 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG03704.hp2 HG03710.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0007a0001c0004t0004 | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0002t0007g0115others(1): Show | 4 | 130 | 0.0308 | 5 | c.367 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109304500 | A | ATCTTC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0048others(44): Show | 47 | 130 | 0.3615 | 5 | c.-23 others(16): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 1843 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101359315 | G | GGGGGC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(51): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0009a0001c0012others(8): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0016others(14): Show | a0001c0002t0003g0015a0001c0002t0003g0021a0001c0002t0003g0023others(51): Show | 54 | 174 | 0.3103 | 5 | c.-37 others(16): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3559 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101390108 | G | GCTTTT | intron_variant | MODIFIER | HG00621.hp2 HG02109.hp2 HG02809.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0114a0001c0001t0002g0111a0001c0001t0002g0113others(14): Show | 17 | 174 | 0.0977 | 5 | c.158 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101391854 | C | CTTTCT | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01168.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0013others(1): Show | a0001c0002t0003a0001c0002t0006a0001c0005t0005others(2): Show | a0001c0002t0003g0040a0001c0002t0006g0034a0001c0005t0005g0167others(2): Show | 5 | 174 | 0.0287 | 5 | c.159 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101429589 | C | CTTTTT | intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 HG03041.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0004others(2): Show | a0001c0002t0006a0001c0005t0002a0001c0005t0023others(3): Show | a0001c0002t0006g0010a0001c0005t0002g0149a0001c0005t0023g0116others(3): Show | 6 | 174 | 0.0345 | 5 | c.281 others(22): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101456169 | T | TATATA | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0064a0002c0003t0001g0100 | 2 | 174 | 0.0115 | 5 | c.385 others(22): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101464407 | C | CTTATT | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00673.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(16): Show | a0001c0001t0002g0064a0001c0001t0002g0074a0001c0001t0002g0080others(42): Show | 45 | 174 | 0.2586 | 5 | c.385 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101490983 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00741.hp2 others(10): Show |
a0001a0002a0005 | a0001c0005a0002c0003a0002c0004others(2): Show | a0001c0005t0002a0001c0005t0005a0001c0005t0011others(7): Show | a0001c0005t0002g0155a0001c0005t0005g0167a0001c0005t0011g0147others(10): Show | 13 | 174 | 0.0747 | 5 | c.386 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(11): Show | a0001c0001t0001g0114a0001c0001t0002g0062a0001c0001t0002g0111others(22): Show | 25 | 174 | 0.1437 | 5 | c.386 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114151341 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG02257.hp2 HG03471.hp1 HG03540.hp2 others(1): Show |
a0012a0021a0031others(1): Show | a0012c0159a0021c0163a0031c0157others(1): Show | a0012c0159t0008a0021c0163t0029a0031c0157t0002others(1): Show | a0012c0159t0008g0007a0021c0163t0029g0010a0031c0157t0002g0008others(1): Show | 4 | 308 | 0.0130 | 5 | c.-46 others(16): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 4195 | chr9 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114262938 | A | ATTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0005others(5): Show | a0001c0017a0001c0046a0001c0148others(9): Show | a0001c0017t0006a0001c0046t0003a0001c0148t0001others(10): Show | a0001c0017t0006g0200a0001c0046t0003g0220a0001c0148t0001g0248others(10): Show | 13 | 308 | 0.0422 | 5 | c.319 others(24): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 28/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114269634 | A | AAAAAG | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02145.hp1 others(3): Show |
a0001a0009a0010others(2): Show | a0001c0017a0009c0102a0010c0025others(3): Show | a0001c0017t0006a0009c0102t0001a0010c0025t0003others(3): Show | a0001c0017t0006g0200a0009c0102t0001g0027a0010c0025t0003g0183others(3): Show | 6 | 308 | 0.0195 | 5 | c.355 others(22): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 35/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7374034 | A | ATATAT | intron_variant | MODIFIER | HG02109.hp1 NA20805.hp1 |
a0001a0009 | a0001c0007a0009c0029 | a0001c0007t0003a0009c0029t0003 | a0001c0007t0003g0148a0009c0029t0003g0009 | 2 | 196 | 0.0102 | 5 | c.236 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7376727 | A | AATACT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0007others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0018a0001c0001t0001g0034a0001c0001t0001g0042others(179): Show | 182 | 196 | 0.9286 | 5 | c.232 others(24): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 30/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7471125 | T | TAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG01891.hp1 HG02055.hp2 others(3): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0009 | a0002c0002t0002a0003c0003t0001a0008c0009t0003 | a0002c0002t0002g0182a0003c0003t0001g0084a0008c0009t0003g0180others(3): Show | 6 | 196 | 0.0306 | 5 | c.130 others(24): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 15/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7522806 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02965.hp1 others(3): Show |
a0001a0002a0008others(1): Show | a0001c0005a0002c0002a0002c0004others(2): Show | a0001c0005t0002a0002c0002t0001a0002c0004t0003others(2): Show | a0001c0005t0002g0069a0002c0002t0001g0066a0002c0004t0003g0032others(3): Show | 6 | 196 | 0.0306 | 5 | c.703 others(20): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 4/34 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47999634 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0002t0001g0020a0001c0002t0001g0040a0001c0002t0001g0171others(21): Show | 31 | 414 | 0.0749 | 5 | c.292 others(20): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 2/53 | chr12 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252477 | T | TATATG | intron_variant | MODIFIER | HG02056.hp2 HG02818.hp1 HG03516.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0083others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0083t0001others(1): Show | a0001c0001t0001g0089a0002c0002t0002g0288a0002c0083t0001g0173others(1): Show | 4 | 344 | 0.0116 | 5 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252583 | C | CAAAAT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(106): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(58): Show | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0040others(106): Show | 109 | 344 | 0.3169 | 5 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252588 | A | ATATGT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(106): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(58): Show | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0040others(106): Show | 109 | 344 | 0.3169 | 5 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252640 | T | TATGTA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(49): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(60): Show | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0040others(109): Show | 112 | 344 | 0.3256 | 5 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110261036 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG00741.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0020others(15): Show | a0001c0001t0001a0001c0007t0001a0001c0020t0005others(17): Show | a0001c0001t0001g0097a0001c0001t0001g0140a0001c0007t0001g0065others(21): Show | 24 | 344 | 0.0698 | 5 | c.85- others(22): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110424640 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00609.hp2 others(44): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0363others(44): Show | 47 | 372 | 0.1263 | 5 | c.181 others(18): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110438810 | C | CCTCCA | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01167.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0189a0001c0001t0001g0190others(26): Show | 30 | 372 | 0.0807 | 5 | c.912 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 15/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110452756 | T | TTTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(96): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(38): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(66): Show | a0001c0001t0002g0306a0001c0002t0001g0152a0001c0002t0001g0193others(96): Show | 99 | 372 | 0.2661 | 5 | c.133 others(24): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110469906 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01069.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0022others(18): Show | a0001c0001t0005a0001c0001t0006a0001c0008t0001others(30): Show | a0001c0001t0005g0107a0001c0001t0005g0154a0001c0001t0006g0047others(39): Show | 42 | 372 | 0.1129 | 5 | c.220 others(22): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 28/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110474127 | A | AAAAAG | intron_variant | MODIFIER | HG04228.hp2 NA18971.hp2 NA19001.hp2 others(3): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0004a0001c0004t0005a0001c0004t0040others(3): Show | a0001c0004t0004g0331a0001c0004t0005g0104a0001c0004t0040g0050others(3): Show | 6 | 372 | 0.0161 | 5 | c.242 others(23): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 29/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110474915 | C | CTCCAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(139): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(102): Show | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0195others(139): Show | 142 | 372 | 0.3817 | 5 | c.242 others(24): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 29/47 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110499524 | C | CAAGAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(220): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(72): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(139): Show | a0001c0001t0001g0153a0001c0001t0001g0195a0001c0001t0002g0306others(219): Show | 223 | 372 | 0.5995 | 5 | c.376 others(24): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 40/47 | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227170209 | T | TATTTC | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0047a0002c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0047t0002others(11): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(21): Show | 24 | 344 | 0.0698 | 5 | c.87+ others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227184836 | C | CTCTAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(122): Show |
a0001a0002a0003others(20): Show | a0001c0001a0002c0004a0002c0007others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0248a0001c0001t0001g0257a0001c0001t0001g0279others(122): Show | 125 | 344 | 0.3634 | 5 | c.87+ others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227223757 | T | TAAAGC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(85): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0004a0002c0007others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(35): Show | a0001c0001t0001g0018a0001c0001t0001g0205a0001c0001t0001g0231others(85): Show | 88 | 344 | 0.2558 | 5 | c.88- others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227226475 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(58): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0047a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0100others(58): Show | 61 | 344 | 0.1773 | 5 | c.88- others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227230062 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00735.hp2 others(65): Show |
a0003a0005a0006others(11): Show | a0003c0002a0005c0005a0005c0020others(19): Show | a0003c0002t0001a0005c0005t0001a0005c0005t0002others(30): Show | a0003c0002t0001g0042a0005c0005t0001g0032a0005c0005t0001g0176others(65): Show | 68 | 344 | 0.1977 | 5 | c.88- others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227236663 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00639.hp2 others(25): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0011a0003c0040others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0170a0001c0001t0001g0205others(25): Show | 28 | 344 | 0.0814 | 5 | c.88- others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227285277 | T | TAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01071.hp1 others(14): Show |
a0001a0005a0008others(4): Show | a0001c0001a0005c0005a0005c0020others(5): Show | a0001c0001t0002a0001c0001t0016a0005c0005t0002others(7): Show | a0001c0001t0002g0118a0001c0001t0002g0144a0001c0001t0002g0173others(14): Show | 17 | 344 | 0.0494 | 5 | c.288 others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 34/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227302677 | C | CAAAAA | intron_variant | MODIFIER | HG02486.hp1 HG03195.hp2 HG03453.hp2 others(3): Show |
a0003a0006a0012others(1): Show | a0003c0002a0006c0010a0006c0016others(2): Show | a0003c0002t0001a0006c0010t0001a0006c0016t0001others(2): Show | a0003c0002t0001g0042a0003c0002t0001g0263a0006c0010t0001g0014others(3): Show | 6 | 344 | 0.0174 | 5 | c.388 others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227012632 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(101): Show |
a0001a0002a0003others(18): Show | a0001c0010a0002c0002a0002c0021others(29): Show | a0001c0010t0005a0002c0002t0002a0002c0002t0004others(39): Show | a0001c0010t0005g0272a0001c0010t0005g0275a0001c0010t0005g0276others(101): Show | 104 | 284 | 0.3662 | 5 | c.421 others(22): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 44/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227021825 | A | AAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(118): Show |
a0002a0004a0005others(15): Show | a0002c0002a0002c0021a0002c0058others(28): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(41): Show | a0002c0002t0002g0008a0002c0002t0002g0009a0002c0002t0002g0013others(118): Show | 121 | 284 | 0.4261 | 5 | c.421 others(22): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 44/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227045779 | A | ATACAT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(33): Show |
a0003a0012a0014others(5): Show | a0003c0003a0003c0014a0003c0026others(10): Show | a0003c0003t0003a0003c0003t0030a0003c0014t0002others(12): Show | a0003c0003t0003g0005a0003c0003t0003g0006a0003c0003t0003g0057others(33): Show | 36 | 284 | 0.1268 | 5 | c.328 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227045832 | A | AGATAG | intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG01258.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004a0003c0003t0003g0093a0003c0003t0003g0099 | 3 | 284 | 0.0106 | 5 | c.328 others(24): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227060101 | G | GAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(64): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0021others(9): Show | a0001c0001t0001a0001c0001t0022a0002c0002t0002others(16): Show | a0001c0001t0001g0200a0001c0001t0001g0273a0001c0001t0022g0119others(64): Show | 67 | 284 | 0.2359 | 5 | c.216 others(20): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 27/47 | chr2 | TogoVar |