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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL26A1_chr7_101357875_101564024 | 101466837 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0100 | 1 | 174 | 0.0058 | 20 | c.385 others(39): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101488349 | A | AATTTATA others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0014 | a0001c0014t0009 | a0001c0014t0009g0117 | 1 | 174 | 0.0058 | 20 | c.385 others(39): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489756 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 174 | 0.0058 | 20 | c.385 others(39): 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(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02280.hp1 NA18984.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0006others(1): Show | a0001c0001t0001a0002c0004t0024a0002c0006t0004others(1): Show | a0001c0001t0001g0114 a0002c0004t0024g0095 a0002c0006t0004g0011 others(1): Show |
4 | 174 | 0.0230 | 20 | c.386 others(39): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101520662 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0010 | a0003c0010t0005 | a0003c0010t0005g0165 | 1 | 174 | 0.0058 | 20 | c.386 others(39): 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(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00738.hp2 others(35): Show |
a0005a0008a0009others(8): Show | a0005c0024a0005c0026a0005c0028others(23): Show | a0005c0024t0002a0005c0024t0006a0005c0026t0002others(32): Show | a0005c0024t0002g0062 a0005c0024t0006g0024 a0005c0026t0002g0305 others(35): Show |
38 | 308 | 0.1234 | 20 | c.134 others(37): 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(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01099.hp1 others(16): Show |
a0005a0008a0009others(2): Show | a0005c0024a0005c0026a0005c0030others(10): Show | a0005c0024t0002a0005c0026t0002a0005c0026t0004others(15): Show | a0005c0024t0002g0062 a0005c0026t0002g0305 a0005c0026t0004g0017 others(16): Show |
19 | 308 | 0.0617 | 20 | c.134 others(37): 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(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp2 others(32): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0016a0001c0017others(26): Show | a0001c0003t0003a0001c0003t0004a0001c0016t0003others(28): Show | a0001c0003t0003g0107 a0001c0003t0003g0243 a0001c0003t0004g0162 others(32): Show |
35 | 308 | 0.1136 | 20 | c.314 others(37): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7374038 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015 | 1 | 196 | 0.0051 | 20 | c.236 others(37): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7374038 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0002 | 1 | 196 | 0.0051 | 20 | c.236 others(37): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 189013488 | A | AATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0051 |
2 | 376 | 0.0053 | 20 | c.*17 others(31): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 743 | chr2 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110169929 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(124): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(47): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0037 others(123): Show |
127 | 344 | 0.3692 | 20 | c.374 others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 42/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110169929 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19030.hp1 |
a0001 | a0001c0010a0001c0051 | a0001c0010t0001a0001c0051t0001 | a0001c0010t0001g0113 a0001c0051t0001g0114 |
2 | 344 | 0.0058 | 20 | c.374 others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 42/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110198076 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0076 | a0001c0076t0003 | a0001c0076t0003g0078 | 1 | 344 | 0.0029 | 20 | c.128 others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 21/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219724 | G | GTATATAC others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00621.hp2 others(39): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(27): Show | a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0128 others(39): Show |
42 | 344 | 0.1221 | 20 | c.145 others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219864 | G | GTGTGTAT others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp1 others(39): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(25): Show | a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0044 others(39): Show |
42 | 344 | 0.1221 | 20 | c.145 others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110236450 | A | ATTAATCA others(13): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 344 | 0.0029 | 20 | c.144 others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255553 | A | AGGGGGCA others(13): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0093 | 1 | 344 | 0.0029 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255579 | A | AGGCAGGC others(13): Show |
intron_variant | MODIFIER | HG01069.hp2 NA18978.hp2 NA18982.hp2 others(1): Show |
a0002a0003a0004others(1): Show | a0002c0004a0003c0108a0004c0060others(1): Show | a0002c0004t0001a0003c0108t0001a0004c0060t0001others(1): Show | a0002c0004t0001g0250 a0003c0108t0001g0244 a0004c0060t0001g0016 others(1): Show |
4 | 344 | 0.0116 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255622 | A | AGGCAGGC others(13): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0299 | 1 | 344 | 0.0029 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255625 | C | CAGGCAGG others(13): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18964.hp2 NA18978.hp1 others(1): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0014 | a0002c0002t0001a0002c0004t0002a0003c0014t0001others(1): Show | a0002c0002t0001g0248 a0002c0004t0002g0287 a0003c0014t0001g0249 others(1): Show |
4 | 344 | 0.0116 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255845 | G | GAGGGGGA others(13): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02135.hp1 HG03579.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0050others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0050t0001others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0003t0001g0105 others(7): Show |
10 | 344 | 0.0291 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255846 | A | AGGGGGAA others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03942.hp1 NA18944.hp1 |
a0001a0002a0004 | a0001c0001a0002c0011a0004c0053 | a0001c0001t0001a0002c0011t0001a0004c0053t0001 | a0001c0001t0001g0089 a0002c0011t0001g0184 a0004c0053t0001g0055 |
3 | 344 | 0.0087 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255864 | G | GAGGGGGA others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18978.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0182 a0002c0004t0001g0250 |
2 | 344 | 0.0058 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255884 | A | AGGGGGAA others(13): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02129.hp1 HG02132.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0003c0008others(3): Show | a0001c0001t0001a0001c0007t0001a0003c0008t0001others(3): Show | a0001c0001t0001g0040 a0001c0007t0001g0065 a0001c0007t0001g0124 others(4): Show |
7 | 344 | 0.0204 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255902 | G | GAGGGGGA others(13): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0168 | 1 | 344 | 0.0029 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255903 | A | AGGGGGAA others(13): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03490.hp2 HG03492.hp1 |
a0001a0002 | a0001c0003a0002c0023 | a0001c0003t0001a0002c0023t0002 | a0001c0003t0001g0085 a0002c0023t0002g0290 a0002c0023t0002g0291 |
3 | 344 | 0.0087 | 20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110387550 | C | CCGAGGAG others(13): Show |
intron_variant | MODIFIER | NA18986.hp2 NA19009.hp2 NA19087.hp2 |
a0001a0007 | a0001c0003a0001c0005a0007c0080 | a0001c0003t0017a0001c0005t0002a0007c0080t0012 | a0001c0003t0017g0178 a0001c0005t0002g0337 a0007c0080t0012g0335 |
3 | 372 | 0.0081 | 20 | c.180 others(39): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110509245 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02572.hp1 HG04228.hp2 |
a0001a0005a0019 | a0001c0004a0005c0027a0019c0061 | a0001c0004t0005a0005c0027t0028a0019c0061t0011 | a0001c0004t0005g0104 a0005c0027t0028g0239 a0019c0061t0011g0039 |
3 | 372 | 0.0081 | 20 | c.488 others(39): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202846 | C | CATATGTG others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0128 | 1 | 344 | 0.0029 | 20 | c.88- others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202926 | T | TATATATG others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 344 | 0.0029 | 20 | c.88- others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202990 | T | TGTATATA others(13): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0193 | 1 | 344 | 0.0029 | 20 | c.88- others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227202990 | T | TGTATATA others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0139 | 1 | 344 | 0.0029 | 20 | c.88- others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203286 | T | TACATATA others(13): Show |
intron_variant | MODIFIER | NA18975.hp2 NA18979.hp2 NA18983.hp1 others(1): Show |
a0003a0007a0009 | a0003c0002a0007c0006a0009c0008 | a0003c0002t0003a0007c0006t0005a0009c0008t0001 | a0003c0002t0003g0174 a0003c0002t0003g0175 a0007c0006t0005g0297 others(1): Show |
4 | 344 | 0.0116 | 20 | c.88- others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203339 | A | ATGTGTAT others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0006 | a0006c0010 | a0006c0010t0006 | a0006c0010t0006g0113 | 1 | 344 | 0.0029 | 20 | c.88- others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203385 | A | ATGTGTAT others(13): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0007 | a0007c0006 | a0007c0006t0005 | a0007c0006t0005g0297 | 1 | 344 | 0.0029 | 20 | c.88- others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203761 | A | ATGTGTAT others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02965.hp1 others(1): Show |
a0001a0002a0028 | a0001c0001a0002c0004a0028c0054 | a0001c0001t0001a0002c0004t0003a0028c0054t0010 | a0001c0001t0001g0184 a0002c0004t0003g0091 a0002c0004t0003g0334 others(1): Show |
4 | 344 | 0.0116 | 20 | c.88- others(37): 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(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01099.hp1 others(16): Show |
a0004a0006a0012others(6): Show | a0004c0003a0006c0010a0006c0013others(8): Show | a0004c0003t0004a0006c0010t0001a0006c0010t0003others(11): Show | a0004c0003t0004g0254 a0004c0003t0004g0255 a0006c0010t0001g0014 others(16): Show |
19 | 344 | 0.0552 | 20 | c.88- others(37): 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(13): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0159 | 1 | 344 | 0.0029 | 20 | c.88- others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 344 | 0.0029 | 20 | c.546 others(35): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0016a0003c0011t0001 | a0001c0001t0016g0093 a0003c0011t0001g0002 |
2 | 344 | 0.0058 | 20 | c.546 others(35): 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(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01074.hp1 others(8): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0002a0005c0005others(4): Show | a0001c0001t0002a0001c0001t0007a0003c0002t0003others(5): Show | a0001c0001t0002g0144 a0001c0001t0002g0300 a0001c0001t0002g0318 others(8): Show |
11 | 344 | 0.0320 | 20 | c.192 others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 26/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227274271 | A | AAATAAAT others(13): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0089 | 1 | 344 | 0.0029 | 20 | c.192 others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 26/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227282273 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02809.hp2 others(1): Show |
a0020a0024a0026others(1): Show | a0020c0050a0024c0057a0026c0030others(1): Show | a0020c0050t0011a0024c0057t0011a0026c0030t0011others(1): Show | a0020c0050t0011g0061 a0024c0057t0011g0006 a0026c0030t0011g0043 others(1): Show |
4 | 344 | 0.0116 | 20 | c.248 others(35): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 31/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227302677 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02451.hp1 |
a0007 | a0007c0006 | a0007c0006t0005 | a0007c0006t0005g0235 a0007c0006t0005g0343 |
2 | 344 | 0.0058 | 20 | c.388 others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227031040 | C | CGGATGGA others(13): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18906.hp1 |
a0020a0030 | a0020c0040a0030c0054 | a0020c0040t0010a0030c0054t0029 | a0020c0040t0010g0028 a0030c0054t0029g0174 |
2 | 284 | 0.0070 | 20 | c.381 others(37): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 40/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227031041 | A | AGATGGAT others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG01169.hp2 others(24): Show |
a0002a0003a0004others(7): Show | a0002c0002a0002c0019a0003c0003others(10): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0026others(12): Show | a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0033 others(24): Show |
27 | 284 | 0.0951 | 20 | c.381 others(37): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 40/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227031069 | G | GGATGGAT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0008 | a0008c0008 | a0008c0008t0004 | a0008c0008t0004g0027 | 1 | 284 | 0.0035 | 20 | c.381 others(37): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 40/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227041720 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0007 | 1 | 284 | 0.0035 | 20 | c.350 others(37): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227041786 | G | GGAAGGAA others(13): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0038 | a0038c0055 | a0038c0055t0003 | a0038c0055t0003g0254 | 1 | 284 | 0.0035 | 20 | c.350 others(37): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar |