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 | 108929117 | TTTTTG | T | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02895.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0059a0001c0001t0001g0099a0001c0001t0002g0129others(8): Show | 11 | 130 | 0.0846 | -5 | c.709 others(22): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 11/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108961568 | CCTGTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01167.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(6): Show | a0001c0001t0001g0041a0001c0001t0001g0080a0001c0001t0001g0103others(9): Show | 12 | 130 | 0.0923 | -5 | c.492 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990238 | AAATAT | A | intron_variant | MODIFIER | HG01891.hp2 HG01993.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(2): Show | a0001c0001t0001g0103a0001c0001t0001g0121a0001c0001t0002g0075others(4): Show | 7 | 130 | 0.0539 | -5 | c.439 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990240 | ATATAT | A | intron_variant | MODIFIER | HG01361.hp1 HG02630.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0063a0001c0001t0003g0033a0001c0002t0001g0089others(1): Show | 4 | 130 | 0.0308 | -5 | c.439 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109000764 | AAAAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01109.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0048a0001c0001t0001g0068a0001c0001t0001g0121others(16): Show | 19 | 130 | 0.1462 | -5 | c.438 others(22): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109006378 | ATTTTT | A | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01258.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0037a0001c0001t0001g0069a0001c0001t0001g0099others(18): Show | 21 | 130 | 0.1615 | -5 | c.438 others(22): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109035899 | TTTTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG01891.hp1 HG02165.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0121a0001c0001t0002g0085a0001c0001t0003g0005others(5): Show | 8 | 130 | 0.0615 | -5 | c.420 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109050533 | TAATTA | T | intron_variant | MODIFIER | HG03209.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081a0001c0001t0002g0054 | 2 | 130 | 0.0154 | -5 | c.368 others(20): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109112511 | AACAGT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0037a0001c0001t0001g0081a0001c0001t0001g0092others(32): Show | 35 | 130 | 0.2692 | -5 | c.368 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109123563 | ATAAAG | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01167.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0048a0001c0001t0001g0080a0001c0001t0002g0094others(19): Show | 22 | 130 | 0.1692 | -5 | c.368 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109208590 | TTTTAA | T | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG01884.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0059a0001c0001t0001g0068a0001c0001t0001g0069others(25): Show | 28 | 130 | 0.2154 | -5 | c.367 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109246016 | CAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0014a0001c0002t0001others(2): Show | a0001c0001t0002g0063a0001c0001t0002g0117a0001c0001t0002g0126others(5): Show | 8 | 130 | 0.0615 | -5 | c.367 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109297862 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG03453.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0026others(3): Show | a0001c0001t0001g0041a0001c0001t0011g0044a0001c0001t0011g0047others(4): Show | 7 | 130 | 0.0539 | -5 | c.367 others(22): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101360446 | GGGAGA | G | upstream_gene_variant | MODIFIER | HG02965.hp2 HG03195.hp2 NA18906.hp1 others(2): Show |
a0002a0003 | a0002c0007a0003c0017a0003c0018 | a0002c0007t0004a0003c0017t0006a0003c0018t0019 | a0002c0007t0004g0007a0002c0007t0004g0008a0002c0007t0004g0009others(2): Show | 5 | 174 | 0.0287 | -5 | c.-25 others(16): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2428 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101383282 | ATTATT | A | 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 | 101385186 | TCAATC | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00597.hp1 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(23): Show | a0001c0001t0002g0084a0001c0001t0002g0132a0001c0001t0002g0133others(68): Show | 71 | 174 | 0.4081 | -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 | 101390148 | GTTTTT | G | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG02071.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0009a0001c0002t0003others(2): Show | a0001c0001t0002g0132a0001c0001t0002g0151a0001c0001t0002g0154others(8): Show | 11 | 174 | 0.0632 | -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 | CTTTCT | C | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 HG02922.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0002a0001c0005t0012a0002c0004t0001others(1): Show | a0001c0001t0002g0064a0001c0005t0012g0146a0002c0004t0001g0145others(1): Show | 4 | 174 | 0.0230 | -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 | 101403527 | CAACAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01074.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0013others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0008t0007others(4): Show | a0001c0001t0002g0136a0001c0001t0005g0059a0001c0001t0005g0079others(15): Show | 18 | 174 | 0.1035 | -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 | 101419074 | TCCTCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(139): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(38): Show | a0001c0001t0001g0114a0001c0001t0002g0061a0001c0001t0002g0062others(139): Show | 142 | 174 | 0.8161 | -5 | c.159 others(20): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101434032 | CTCCCT | C | intron_variant | MODIFIER | HG02647.hp2 HG03486.hp1 HG03486.hp2 |
a0001a0002 | a0001c0014a0002c0003a0002c0004 | a0001c0014t0009a0002c0003t0001a0002c0004t0001 | a0001c0014t0009g0117a0002c0003t0001g0161a0002c0004t0001g0148 | 3 | 174 | 0.0172 | -5 | c.282 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101451325 | TTTATA | T | intron_variant | MODIFIER | HG00673.hp2 HG01884.hp1 HG01884.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0014others(7): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(17): Show | a0001c0001t0002g0064a0001c0001t0002g0093a0001c0001t0002g0154others(32): Show | 35 | 174 | 0.2012 | -5 | c.385 others(22): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101456168 | ATTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01243.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0011a0001c0002t0006others(12): Show | a0001c0001t0002g0174a0001c0001t0011g0108a0001c0002t0006g0010others(21): Show | 24 | 174 | 0.1379 | -5 | c.385 others(22): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101471948 | ATTCTC | A | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01167.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0002g0074a0001c0001t0002g0080a0001c0001t0002g0093others(27): Show | 30 | 174 | 0.1724 | -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 | 101489751 | TGTCTC | T | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01257.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0001t0014a0001c0002t0003others(2): Show | a0001c0001t0005g0079a0001c0001t0014g0109a0001c0002t0003g0040others(2): Show | 5 | 174 | 0.0287 | -5 | c.385 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101525171 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0002c0003others(4): Show | a0001c0002t0006a0001c0005t0012a0002c0003t0001others(4): Show | a0001c0002t0006g0010a0001c0005t0012g0082a0001c0005t0012g0089others(9): Show | 12 | 174 | 0.0690 | -5 | c.386 others(22): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114182186 | TAATAA | T | intron_variant | MODIFIER | HG02027.hp2 HG02074.hp2 NA18944.hp2 others(9): Show |
a0001a0002a0004others(7): Show | a0001c0046a0001c0148a0002c0151others(8): Show | a0001c0046t0003a0001c0148t0001a0002c0151t0004others(8): Show | a0001c0046t0003g0220a0001c0046t0003g0242a0001c0148t0001g0248others(9): Show | 12 | 308 | 0.0390 | -5 | c.196 others(22): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 4/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114253517 | AAGAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01099.hp2 others(20): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0022a0001c0045others(15): Show | a0001c0002t0012a0001c0002t0023a0001c0002t0027others(17): Show | a0001c0002t0012g0119a0001c0002t0023g0043a0001c0002t0027g0127others(20): Show | 23 | 308 | 0.0747 | -5 | c.314 others(22): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114259461 | ATTATT | A | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02145.hp1 |
a0001a0010a0018 | a0001c0017a0010c0025a0018c0051 | a0001c0017t0006a0010c0025t0003a0018c0051t0017 | a0001c0017t0006g0200a0010c0025t0003g0183a0018c0051t0017g0031 | 3 | 308 | 0.0097 | -5 | c.319 others(22): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 28/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114279678 | CAATTA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp2 others(75): Show |
a0001a0002a0003others(28): Show | a0001c0003a0001c0017a0001c0124others(54): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0004others(65): Show | a0001c0003t0002g0051a0001c0003t0002g0080a0001c0003t0003g0107others(75): Show | 78 | 308 | 0.2533 | -5 | c.371 others(24): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 37/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114279994 | TGTATA | T | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG01981.hp1 others(4): Show |
a0001a0010a0025others(1): Show | a0001c0017a0001c0120a0001c0122others(3): Show | a0001c0017t0006a0001c0120t0001a0001c0122t0014others(3): Show | a0001c0017t0006g0200a0001c0017t0006g0213a0001c0120t0001g0041others(4): Show | 7 | 308 | 0.0227 | -5 | c.371 others(24): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 37/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114281408 | CCAGGG | C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG02040.hp2 others(2): Show |
a0002a0003a0006others(1): Show | a0002c0001a0003c0015a0003c0094others(2): Show | a0002c0001t0003a0003c0015t0003a0003c0094t0002others(2): Show | a0002c0001t0003g0303a0003c0015t0003g0275a0003c0094t0002g0230others(2): Show | 5 | 308 | 0.0162 | -5 | c.371 others(22): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 37/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114299278 | TTATAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00673.hp2 others(57): Show |
a0001a0002a0003others(14): Show | a0001c0003a0001c0016a0001c0017others(39): Show | a0001c0003t0003a0001c0003t0006a0001c0016t0003others(43): Show | a0001c0003t0003g0107a0001c0003t0003g0115a0001c0003t0003g0243others(57): Show | 60 | 308 | 0.1948 | -5 | c.458 others(22): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 49/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7417534 | GAGGGA | G | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02572.hp2 others(2): Show |
a0004a0007a0010 | a0004c0006a0004c0039a0007c0008others(2): Show | a0004c0006t0002a0004c0039t0003a0007c0008t0003others(2): Show | a0004c0006t0002g0008a0004c0039t0003g0071a0007c0008t0003g0012others(2): Show | 5 | 196 | 0.0255 | -5 | c.213 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7438675 | TCATAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00733.hp2 others(61): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(27): Show | a0001c0001t0001g0157a0001c0001t0001g0158a0001c0001t0002g0149others(61): Show | 64 | 196 | 0.3265 | -5 | c.172 others(24): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 21/34 | chr7 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188970578 | AACTTT | A | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01123.hp2 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0004t0001others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0080a0001c0001t0001g0130others(36): Show | 44 | 376 | 0.1170 | -5 | c.-39 others(16): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 3794 | chr2 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110145379 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG03041.hp1 others(3): Show |
a0001a0003a0004 | a0001c0059a0003c0038a0003c0101others(2): Show | a0001c0059t0001a0003c0038t0001a0003c0101t0001others(2): Show | a0001c0059t0001g0091a0003c0038t0001g0196a0003c0038t0001g0228others(3): Show | 6 | 344 | 0.0174 | -5 | c.*49 others(16): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110158212 | TATAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(104): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(47): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(54): Show | a0001c0001t0001g0013a0001c0001t0001g0026a0001c0001t0001g0037others(104): Show | 107 | 344 | 0.3111 | -5 | c.464 others(24): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 49/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110211627 | CAAAAT | C | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01123.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0006a0001c0007others(13): Show | a0001c0003t0001a0001c0006t0003a0001c0007t0001others(17): Show | a0001c0003t0001g0088a0001c0003t0001g0094a0001c0003t0001g0095others(26): Show | 29 | 344 | 0.0843 | -5 | c.468 others(18): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 8/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110222771 | TTAAAA | T | intron_variant | MODIFIER | HG01106.hp1 HG01256.hp2 HG01884.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0015others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0015t0002others(3): Show | a0001c0001t0001g0128a0002c0002t0002g0269a0002c0015t0002g0317others(3): Show | 6 | 344 | 0.0174 | -5 | c.145 others(22): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110246420 | TTAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(286): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0006others(97): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(122): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0013others(284): Show | 289 | 344 | 0.8401 | -5 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110474127 | AAAAAG | A | 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(23): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 29/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110507747 | GGAGTC | G | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01106.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0004a0001c0001t0005a0001c0002t0005others(14): Show | a0001c0001t0004g0348a0001c0001t0005g0154a0001c0002t0005g0100others(25): Show | 29 | 372 | 0.0780 | -5 | c.459 others(22): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 46/47 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110514587 | TAAAAG | T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01192.hp1 HG02109.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0037others(3): Show | a0001c0001t0023a0001c0002t0023a0001c0037t0020others(4): Show | a0001c0001t0023g0329a0001c0002t0023g0305a0001c0037t0020g0069others(5): Show | 8 | 372 | 0.0215 | -5 | c.*23 others(16): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 1379 | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227205589 | GATTAA | G | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01109.hp2 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0004a0002c0007others(5): Show | a0001c0001t0002a0001c0001t0016a0002c0004t0001others(11): Show | a0001c0001t0002g0266a0001c0001t0002g0344a0001c0001t0016g0048others(26): Show | 29 | 344 | 0.0843 | -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 | 227238722 | TCTAAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01256.hp2 others(29): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0002a0004c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0022others(29): Show | 32 | 344 | 0.0930 | -5 | c.144 others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 2/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227271461 | ATTTTT | A | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp1 HG02145.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0002c0007others(5): Show | a0001c0001t0002a0002c0004t0008a0002c0004t0018others(8): Show | a0001c0001t0002g0253a0001c0001t0002g0344a0002c0004t0008g0040others(16): Show | 19 | 344 | 0.0552 | -5 | c.175 others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 25/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227297012 | TTTCTA | T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02630.hp2 others(13): Show |
a0002a0003a0006others(1): Show | a0002c0004a0003c0002a0006c0010others(4): Show | a0002c0004t0006a0003c0002t0006a0006c0010t0006others(4): Show | a0002c0004t0006g0039a0002c0004t0006g0049a0002c0004t0006g0053others(13): Show | 16 | 344 | 0.0465 | -5 | c.356 others(22): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 41/51 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227021825 | AAAAAT | A | intron_variant | MODIFIER | HG02717.hp1 NA19030.hp2 NA20300.hp2 |
a0007a0041 | a0007c0006a0041c0029 | a0007c0006t0004a0041c0029t0004 | a0007c0006t0004g0175a0007c0006t0004g0176a0041c0029t0004g0026 | 3 | 284 | 0.0106 | -5 | c.421 others(22): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 44/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227027667 | ATAAAG | A | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 HG03139.hp1 |
a0002a0004a0008 | a0002c0002a0004c0004a0008c0028 | a0002c0002t0011a0004c0004t0020a0008c0028t0034 | a0002c0002t0011g0222a0004c0004t0020g0217a0008c0028t0034g0160 | 3 | 284 | 0.0106 | -5 | c.408 others(22): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 42/47 | chr2 | TogoVar |