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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02886.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0083 a0001c0002t0001g0050 a0001c0002t0005g0141 others(1): Show |
4 | 84 | 0.0476 | 22 | c.318 others(39): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 97 | 0.0103 | 22 | c.105 others(39): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0060 | 1 | 97 | 0.0103 | 22 | c.105 others(39): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0077 a0002c0003t0004g0078 |
2 | 139 | 0.0144 | 22 | c.730 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 1 | 138 | 0.0072 | 22 | c.730 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAAAGA others(15): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0006 | a0006c0017 | a0006c0017t0006 | a0006c0017t0006g0009 | 1 | 37 | 0.0270 | 22 | c.395 others(43): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0060 | 1 | 30 | 0.0333 | 22 | c.277 others(39): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86011018 | T | TGAGGACA others(15): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0188 | 1 | 236 | 0.0042 | 22 | c.231 others(41): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108835861 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02965.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0058 a0001c0001t0002g0088 a0001c0001t0004g0007 |
3 | 21 | 0.1429 | 22 | c.165 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108999209 | C | CTATCCAT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(92): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0059 others(92): Show |
95 | 130 | 0.7308 | 22 | c.438 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019375 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01346.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0023 | a0001c0003t0008g0036 a0001c0003t0023g0128 |
2 | 92 | 0.0217 | 22 | c.421 others(39): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109250369 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01258.hp2 HG01884.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0001g0121 a0001c0001t0011g0044 a0001c0001t0012g0096 others(4): Show |
7 | 33 | 0.2121 | 22 | c.367 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254469 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0022 | a0001c0001t0002g0071 a0001c0002t0001g0038 a0001c0002t0001g0098 others(1): Show |
4 | 40 | 0.1000 | 22 | c.367 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254505 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 104 | 0.0096 | 22 | c.367 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101385367 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0063 | 1 | 128 | 0.0078 | 22 | c.158 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0130 | 1 | 102 | 0.0098 | 22 | c.386 others(41): 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(15): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03492.hp1 NA19005.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0002t0006a0002c0004t0001 | a0001c0001t0002g0114 a0001c0002t0006g0040 a0002c0004t0001g0159 |
3 | 86 | 0.0349 | 22 | c.386 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101520655 | C | CACACACC others(15): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 172 | 0.0058 | 22 | c.386 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114253296 | A | AAAGAAAG others(15): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0006 | a0006c0004 | a0006c0004t0005 | a0006c0004t0005g0113 | 1 | 306 | 0.0033 | 22 | c.314 others(39): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 48008121 | G | GAAAGAAA others(15): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0015 | 1 | 192 | 0.0052 | 22 | c.-38 others(33): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3646 | chr12 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110198078 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 129 | 0.0078 | 22 | c.128 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 21/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219682 | A | ATATATGT others(15): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0033a0001c0051a0002c0004 | a0001c0033t0001a0001c0051t0001a0002c0004t0001 | a0001c0033t0001g0098 a0001c0033t0001g0099 a0001c0051t0001g0112 others(1): Show |
4 | 261 | 0.0153 | 22 | c.145 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219688 | A | ATGTATAT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(16): Show | a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0127 others(24): Show |
27 | 337 | 0.0801 | 22 | c.145 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219688 | A | ATGTATAT others(15): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18971.hp2 NA18972.hp2 |
a0001a0004 | a0001c0001a0001c0019a0004c0005 | a0001c0001t0001a0001c0019t0001a0004c0005t0001 | a0001c0001t0001g0041 a0001c0019t0001g0068 a0004c0005t0001g0047 |
3 | 313 | 0.0096 | 22 | c.145 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219690 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01515.hp1 HG02129.hp1 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(10): Show | a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0003t0001g0088 others(13): Show |
16 | 264 | 0.0606 | 22 | c.145 others(39): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252675 | A | AATATGTA others(15): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03209.hp2 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0010a0001c0051a0002c0004 | a0001c0010t0001a0001c0051t0001a0002c0004t0001others(1): Show | a0001c0010t0001g0111 a0001c0051t0001g0112 a0002c0004t0001g0191 others(1): Show |
4 | 341 | 0.0117 | 22 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110509245 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18961.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0002 | a0001c0003t0001g0166 a0001c0005t0002g0297 |
2 | 160 | 0.0125 | 22 | c.488 others(41): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110509270 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0067 | a0003c0067t0050 | a0003c0067t0050g0151 | 1 | 264 | 0.0038 | 22 | c.488 others(41): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202747 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0161 | 1 | 331 | 0.0030 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203196 | C | CACATATA others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01361.hp1 HG01516.hp1 others(7): Show |
a0001a0005a0017 | a0001c0001a0005c0005a0017c0019 | a0001c0001t0002a0005c0005t0001a0005c0005t0007others(1): Show | a0001c0001t0002g0344 a0005c0005t0001g0097 a0005c0005t0001g0098 others(7): Show |
10 | 322 | 0.0311 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203316 | C | CACATATA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0002a0003c0011t0001 | a0001c0001t0002g0255 a0003c0011t0001g0143 |
2 | 311 | 0.0064 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203317 | A | ACACATAT others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0020 | a0020c0050 | a0020c0050t0011 | a0020c0050t0011g0060 | 1 | 313 | 0.0032 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203363 | A | ACACATAT others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0002a0003c0011t0001 | a0001c0001t0002g0255 a0003c0011t0001g0143 |
2 | 318 | 0.0063 | 22 | c.88- others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203763 | A | ATGTGTAT others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01167.hp2 HG01169.hp1 others(14): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0002a0004c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0003others(6): Show | a0001c0001t0001g0173 a0001c0001t0001g0196 a0001c0001t0001g0280 others(14): Show |
17 | 325 | 0.0523 | 22 | c.88- others(39): 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(15): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0310 | 1 | 95 | 0.0105 | 22 | c.88- others(39): 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(15): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0171 | 1 | 56 | 0.0179 | 22 | c.546 others(37): 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(15): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 56 | 0.0179 | 22 | c.546 others(37): 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(15): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0047 | 1 | 56 | 0.0179 | 22 | c.546 others(37): 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(15): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0258 | 1 | 56 | 0.0179 | 22 | c.546 others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227274260 | A | AATAAATA others(15): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0171 | 1 | 342 | 0.0029 | 22 | c.192 others(41): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 26/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227302677 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01981.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0127 |
3 | 27 | 0.1111 | 22 | c.388 others(39): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 43/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041838 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 247 | 0.0040 | 22 | c.350 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227041848 | G | GAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0005 | a0005c0045 | a0005c0045t0003 | a0005c0045t0003g0062 | 1 | 148 | 0.0068 | 22 | c.350 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227041848 | G | GAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 148 | 0.0068 | 22 | c.350 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227045929 | A | ATATATGT others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 NA18906.hp1 others(1): Show |
a0020a0028a0031 | a0020c0041a0020c0054a0028c0037others(1): Show | a0020c0041t0010a0020c0054t0010a0028c0037t0016others(1): Show | a0020c0041t0010g0028 a0020c0054t0010g0020 a0028c0037t0016g0003 others(1): Show |
4 | 282 | 0.0142 | 22 | c.328 others(41): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227089588 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02970.hp2 others(1): Show |
a0003a0011a0018others(1): Show | a0003c0003a0011c0011a0018c0064others(1): Show | a0003c0003t0030a0011c0011t0003a0018c0064t0005others(1): Show | a0003c0003t0030g0170 a0011c0011t0003g0237 a0018c0064t0005g0179 others(1): Show |
4 | 193 | 0.0207 | 22 | c.145 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 21/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227089608 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0034 | a0034c0033 | a0034c0033t0032 | a0034c0033t0032g0169 | 1 | 255 | 0.0039 | 22 | c.145 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 21/47 | chr2 | TogoVar | |||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0195 |
2 | 100 | 0.0200 | 22 | c.81+ others(39): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108473633 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0201 |
2 | 100 | 0.0200 | 22 | c.81+ others(39): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134760587 | C | CACCCACA others(15): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 270 | 0.0037 | 22 | c.193 others(41): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |