view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL28A1_chr7_7352875_7540873 | 7426518 | TGAATAG | T | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 |
a0002 | a0002c0002a0002c0049 | a0002c0002t0002a0002c0049t0003 | a0002c0002t0002g0015 a0002c0049t0003g0189 |
2 | 196 | 0.0102 | -6 | c.199 others(25): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 25/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7487196 | CATTCTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02257.hp1 others(14): Show |
a0002a0007a0009others(6): Show | a0002c0002a0002c0049a0007c0008others(9): Show | a0002c0002t0002a0002c0049t0003a0007c0008t0003others(10): Show | a0002c0002t0002g0015 a0002c0049t0003g0189 a0007c0008t0003g0012 others(14): Show |
17 | 196 | 0.0867 | -6 | c.116 others(25): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 13/34 | chr7 | TogoVar | |||||||
COL2A1_chr12_47967967_48009476 | 48008103 | AAGAGAG | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01952.hp1 others(1): Show |
a0001 | a0001c0003a0001c0008a0001c0046 | a0001c0003t0001a0001c0008t0001a0001c0046t0001 | a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0008t0001g0009 others(1): Show |
4 | 414 | 0.0097 | -6 | c.-37 others(17): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3628 | chr12 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 189007096 | AATATAT | A | intron_variant | MODIFIER | HG01891.hp2 HG01928.hp2 HG02074.hp1 others(24): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0016 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0035 others(18): Show |
27 | 376 | 0.0718 | -6 | c.325 others(23): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 189013488 | AATATAT | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00738.hp2 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0035 others(47): Show |
54 | 376 | 0.1436 | -6 | c.*17 others(17): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 743 | chr2 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110198076 | GGGGTGT | G | intron_variant | MODIFIER | HG02723.hp2 HG02970.hp1 HG03139.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0015a0003c0038others(2): Show | a0001c0006t0001a0002c0015t0001a0003c0038t0001others(2): Show | a0001c0006t0001g0008 a0002c0015t0001g0199 a0002c0015t0001g0241 others(4): Show |
7 | 344 | 0.0204 | -6 | c.128 others(23): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 21/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110198078 | GGTGTGT | G | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02280.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0030a0002c0048others(4): Show | a0001c0003t0001a0002c0030t0003a0002c0048t0001others(4): Show | a0001c0003t0001g0094 a0001c0003t0001g0095 a0002c0030t0003g0188 others(7): Show |
10 | 344 | 0.0291 | -6 | c.128 others(23): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 21/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219862 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(29): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(34): Show | a0001c0001t0001g0142 a0001c0003t0001g0014 a0001c0003t0001g0085 others(48): Show |
51 | 344 | 0.1483 | -6 | c.145 others(23): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110222771 | TTAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00621.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(25): Show | a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0140 others(35): Show |
38 | 344 | 0.1105 | -6 | c.145 others(23): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110227387 | GACACAC | G | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01255.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0019a0001c0036a0002c0018others(3): Show | a0001c0019t0001a0001c0036t0003a0002c0018t0001others(3): Show | a0001c0019t0001g0005 a0001c0036t0003g0135 a0002c0018t0001g0176 others(3): Show |
6 | 344 | 0.0174 | -6 | c.145 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110227421 | CACACAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01106.hp1 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(22): Show | a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0005g0041 others(29): Show |
32 | 344 | 0.0930 | -6 | c.145 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110230125 | TGGAGGG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(333): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(109): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(139): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(331): Show |
336 | 344 | 0.9767 | -6 | c.144 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110247790 | CGTGTGT | C | intron_variant | MODIFIER | HG03209.hp2 NA18906.hp1 NA18963.hp2 others(2): Show |
a0001a0003a0004 | a0001c0007a0001c0010a0001c0051others(2): Show | a0001c0007t0001a0001c0010t0001a0001c0051t0001others(2): Show | a0001c0007t0001g0070 a0001c0010t0001g0113 a0001c0051t0001g0114 others(2): Show |
5 | 344 | 0.0145 | -6 | c.85- others(21): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252462 | ATATAAT | A | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG02896.hp1 others(1): Show |
a0002 | a0002c0002a0002c0030a0002c0048 | a0002c0002t0001a0002c0030t0008a0002c0048t0001 | a0002c0002t0001g0200 a0002c0030t0008g0189 a0002c0048t0001g0186 others(1): Show |
4 | 344 | 0.0116 | -6 | c.85- others(21): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252501 | ATATATG | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(48): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0037 others(86): Show |
90 | 344 | 0.2616 | -6 | c.85- others(21): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252534 | ATATATG | A | intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 HG01891.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(21): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(21): Show | a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0082 others(25): Show |
28 | 344 | 0.0814 | -6 | c.85- others(21): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110253619 | CTTATAA | C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02723.hp1 others(2): Show |
a0002a0003 | a0002c0004a0002c0011a0002c0015others(2): Show | a0002c0004t0001a0002c0011t0001a0002c0015t0001others(2): Show | a0002c0004t0001g0190 a0002c0011t0001g0216 a0002c0015t0001g0231 others(2): Show |
5 | 344 | 0.0145 | -6 | c.85- others(23): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255697 | AGGGAGG | A | intron_variant | MODIFIER | HG00323.hp1 HG02300.hp2 HG02698.hp2 others(3): Show |
a0001a0002a0004 | a0001c0006a0001c0007a0001c0013others(3): Show | a0001c0006t0001a0001c0007t0001a0001c0013t0001others(3): Show | a0001c0006t0001g0008 a0001c0007t0001g0046 a0001c0013t0001g0050 others(3): Show |
6 | 344 | 0.0174 | -6 | c.85- others(23): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110409118 | TATACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0003others(99): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(187): Show | a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0189 others(303): Show |
307 | 372 | 0.8253 | -6 | c.181 others(25): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227177147 | CTTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0047a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(11): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 others(21): Show |
24 | 344 | 0.0698 | -6 | c.87+ others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227193977 | AGAGAAG | A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02258.hp1 others(2): Show |
a0003a0006 | a0003c0011a0006c0010 | a0003c0011t0001a0003c0011t0003a0003c0011t0010others(1): Show | a0003c0011t0001g0002 a0003c0011t0003g0010 a0003c0011t0003g0337 others(2): Show |
5 | 344 | 0.0145 | -6 | c.87+ others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227195624 | CTTTTTA | C | intron_variant | MODIFIER | HG02559.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
a0002a0010 | a0002c0004a0002c0007a0010c0051 | a0002c0004t0008a0002c0004t0013a0002c0007t0010others(1): Show | a0002c0004t0008g0240 a0002c0004t0008g0246 a0002c0004t0013g0339 others(3): Show |
6 | 344 | 0.0174 | -6 | c.87+ others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202874 | TATATAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0004a0003c0002others(10): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0008others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0120 others(23): Show |
26 | 344 | 0.0756 | -6 | c.88- others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203143 | ATATGTG | A | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 NA20129.hp1 |
a0002a0025 | a0002c0007a0002c0026a0025c0043 | a0002c0007t0003a0002c0026t0014a0025c0043t0012 | a0002c0007t0003g0092 a0002c0026t0014g0146 a0025c0043t0012g0233 |
3 | 344 | 0.0087 | -6 | c.88- others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203310 | TATATAC | T | intron_variant | MODIFIER | HG01358.hp2 HG02523.hp1 HG03017.hp2 others(2): Show |
a0005a0017 | a0005c0005a0017c0019 | a0005c0005t0001a0005c0005t0007a0017c0019t0019 | a0005c0005t0001g0176 a0005c0005t0001g0177 a0005c0005t0007g0109 others(2): Show |
5 | 344 | 0.0145 | -6 | c.88- others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203328 | TACATAC | T | intron_variant | MODIFIER | HG02486.hp2 HG03579.hp2 NA18906.hp1 |
a0002a0006 | a0002c0004a0006c0010 | a0002c0004t0008a0002c0004t0013a0006c0010t0006 | a0002c0004t0008g0330 a0002c0004t0013g0067 a0006c0010t0006g0058 |
3 | 344 | 0.0087 | -6 | c.88- others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203374 | TACATAC | T | intron_variant | MODIFIER | HG02080.hp2 HG02145.hp2 HG02486.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0002others(2): Show | a0001c0001t0001a0002c0004t0006a0002c0004t0025others(3): Show | a0001c0001t0001g0214 a0002c0004t0006g0053 a0002c0004t0025g0059 others(3): Show |
6 | 344 | 0.0174 | -6 | c.88- others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227208765 | TACACAC | T | intron_variant | MODIFIER | HG02717.hp2 NA18960.hp2 NA18965.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0007a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0007t0001others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(7): Show |
10 | 344 | 0.0291 | -6 | c.88- others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227213914 | AAAAAAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01099.hp1 others(25): Show |
a0002a0004a0006others(8): Show | a0002c0004a0002c0007a0004c0003others(13): Show | a0002c0004t0003a0002c0007t0003a0004c0003t0004others(17): Show | a0002c0004t0003g0091 a0002c0004t0003g0334 a0002c0007t0003g0037 others(25): Show |
28 | 344 | 0.0814 | -6 | c.88- others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227218074 | ATATAGC | A | intron_variant | MODIFIER | HG01192.hp2 HG02683.hp1 NA18957.hp2 |
a0001a0016 | a0001c0001a0016c0024 | a0001c0001t0001a0016c0024t0002 | a0001c0001t0001g0018 a0016c0024t0002g0232 a0016c0024t0002g0294 |
3 | 344 | 0.0087 | -6 | c.88- others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227222160 | AATAATG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00738.hp2 others(31): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0004a0003c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0018 a0001c0001t0001g0203 a0001c0001t0001g0212 others(31): Show |
34 | 344 | 0.0988 | -6 | c.88- others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227252586 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(138): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0047a0003c0002others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0100 others(138): Show |
141 | 344 | 0.4099 | -6 | c.646 others(21): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 11/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227271461 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(62): Show |
a0001a0005a0010others(4): Show | a0001c0001a0001c0047a0005c0005others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(13): Show | a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0056 others(62): Show |
65 | 344 | 0.1890 | -6 | c.175 others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 25/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227025078 | AGAAACT | A | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG03041.hp2 others(2): Show |
a0013a0021 | a0013c0013a0021c0016 | a0013c0013t0006a0021c0016t0014 | a0013c0013t0006g0144 a0013c0013t0006g0155 a0013c0013t0006g0212 others(2): Show |
5 | 284 | 0.0176 | -6 | c.409 others(23): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 43/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227028644 | TTTATTA | T | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG01358.hp2 others(2): Show |
a0002a0006a0015 | a0002c0002a0006c0005a0015c0024 | a0002c0002t0002a0002c0002t0026a0006c0005t0004others(1): Show | a0002c0002t0002g0205 a0002c0002t0002g0239 a0002c0002t0026g0232 others(2): Show |
5 | 284 | 0.0176 | -6 | c.397 others(23): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 41/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227041684 | AAGACAG | A | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG03041.hp2 others(2): Show |
a0013a0021 | a0013c0013a0021c0016 | a0013c0013t0006a0021c0016t0014 | a0013c0013t0006g0144 a0013c0013t0006g0155 a0013c0013t0006g0212 others(2): Show |
5 | 284 | 0.0176 | -6 | c.350 others(23): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227041858 | GAAAGAA | G | intron_variant | MODIFIER | HG02735.hp2 NA18995.hp2 NA19060.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0090 a0002c0002t0002g0210 a0002c0002t0002g0211 |
3 | 284 | 0.0106 | -6 | c.350 others(23): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227077663 | TAAAGAA | T | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02559.hp2 others(7): Show |
a0004a0008 | a0004c0004a0004c0040a0004c0051others(1): Show | a0004c0004t0005a0004c0004t0037a0004c0040t0002others(3): Show | a0004c0004t0005g0030 a0004c0004t0005g0234 a0004c0004t0037g0062 others(7): Show |
10 | 284 | 0.0352 | -6 | c.198 others(23): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 25/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227091247 | CAGATAT | C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01099.hp1 others(68): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0010a0001c0049others(30): Show | a0001c0001t0001a0001c0010t0005a0001c0049t0003others(34): Show | a0001c0001t0001g0054 a0001c0001t0001g0102 a0001c0001t0001g0124 others(68): Show |
71 | 284 | 0.2500 | -6 | c.137 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 20/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227140875 | TCACACA | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(62): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0068a0001c0070others(24): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0021others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0044 others(61): Show |
65 | 284 | 0.2289 | -6 | c.115 others(21): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 3/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227142097 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(75): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0019others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0044 others(74): Show |
78 | 284 | 0.2747 | -6 | c.115 others(23): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 3/47 | chr2 | TogoVar | |||||||
COL4A5_chrX_108434838_108702545 | 108460656 | ATTTTTT | A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 269 | 0.0037 | -6 | c.81+ others(23): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108525247 | CTCTCTA | C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 269 | 0.0037 | -6 | c.82- others(23): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108636939 | CTTTTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02080.hp2 HG02523.hp1 others(5): Show |
a0002a0005a0011 | a0002c0004a0005c0007a0011c0010 | a0002c0004t0001a0002c0004t0002a0002c0004t0003others(3): Show | a0002c0004t0001g0263 a0002c0004t0002g0071 a0002c0004t0002g0073 others(5): Show |
8 | 269 | 0.0297 | -6 | c.324 others(27): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108663738 | TAAAATA | T | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
a0002a0005a0011 | a0002c0004a0005c0007a0011c0010 | a0002c0004t0001a0002c0004t0002a0002c0004t0012others(2): Show | a0002c0004t0001g0263 a0002c0004t0002g0071 a0002c0004t0002g0073 others(4): Show |
7 | 269 | 0.0260 | -6 | c.337 others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 37/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108694040 | GGTGTAT | G | intron_variant | MODIFIER | HG02055.hp1 HG02523.hp1 HG02622.hp1 others(4): Show |
a0002a0005a0011 | a0002c0004a0005c0007a0011c0010 | a0002c0004t0001a0002c0004t0002a0002c0004t0012others(2): Show | a0002c0004t0001g0263 a0002c0004t0002g0071 a0002c0004t0002g0073 others(4): Show |
7 | 269 | 0.0260 | -6 | c.470 others(23): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 50/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108699131 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(84): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0001others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(84): Show |
87 | 269 | 0.3234 | -6 | c.*27 others(17): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1587 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108155450 | TCTTTGA | T | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02895.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0001 a0003c0004t0004g0002 a0003c0004t0004g0054 others(3): Show |
6 | 234 | 0.0256 | -6 | c.*15 others(17): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 163 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108197772 | AGTGTGT | A | intron_variant | MODIFIER | HG02080.hp2 HG02486.hp1 |
a0002a0007 | a0002c0024a0007c0026 | a0002c0024t0008a0007c0026t0002 | a0002c0024t0008g0035 a0007c0026t0002g0192 |
2 | 234 | 0.0086 | -6 | c.835 others(23): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 13/44 | chrX | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108300366 | CTGTGTG | C | intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0024 | a0002c0024t0008 | a0002c0024t0008g0035 | 1 | 234 | 0.0043 | -6 | c.144 others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar |