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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL22A1_chr8_138583235_138919041 | 138676413 | A | AAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 NA20129.hp1 |
a0001 | a0001c0002a0001c0028 | a0001c0002t0002a0001c0028t0001 | a0001c0002t0002g0043a0001c0028t0001g0034 | 2 | 158 | 0.0127 | 28 | c.315 others(45): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138676454 | A | AAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01106.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0101a0001c0001t0001g0116a0001c0001t0001g0123others(8): Show | 11 | 158 | 0.0696 | 28 | c.315 others(45): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138795528 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0061 | 1 | 158 | 0.0063 | 28 | c.159 others(47): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 12/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178232828 | T | TCGCCCCG others(21): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG03540.hp1 |
a0001a0007 | a0001c0001a0007c0019 | a0001c0001t0005a0007c0019t0005 | a0001c0001t0005g0161a0007c0019t0005g0160 | 2 | 236 | 0.0085 | 28 | c.*58 others(39): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 4789 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(21): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0007 | a0007c0019 | a0007c0019t0005 | a0007c0019t0005g0160 | 1 | 236 | 0.0042 | 28 | c.105 others(45): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178258236 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18522.hp1 NA18906.hp2 |
a0002 | a0002c0003a0002c0014 | a0002c0003t0005a0002c0014t0003 | a0002c0003t0005g0115a0002c0003t0005g0131a0002c0014t0003g0124 | 3 | 236 | 0.0127 | 28 | c.730 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 236 | 0.0042 | 28 | c.730 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01256.hp2 |
a0002a0003 | a0002c0002a0003c0007 | a0002c0002t0001a0003c0007t0001 | a0002c0002t0001g0052a0003c0007t0001g0013 | 2 | 236 | 0.0085 | 28 | c.730 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178269458 | T | TCCATCCA others(21): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18906.hp1 |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0005a0004c0006t0003 | a0002c0003t0005g0066a0004c0006t0003g0139 | 2 | 236 | 0.0085 | 28 | c.469 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358248 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02965.hp1 HG03098.hp1 others(3): Show |
a0001a0002a0011 | a0001c0001a0002c0009a0011c0013 | a0001c0001t0003a0001c0001t0005a0002c0009t0006others(2): Show | a0001c0001t0003g0119a0001c0001t0005g0113a0001c0001t0005g0144others(3): Show | 6 | 236 | 0.0254 | 28 | c.362 others(47): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00639.hp2 others(16): Show |
a0001a0002a0003others(10): Show | a0001c0005a0002c0003a0003c0007others(10): Show | a0001c0005t0003a0002c0003t0002a0003c0007t0001others(13): Show | a0001c0005t0003g0224a0002c0003t0002g0143a0003c0007t0001g0075others(16): Show | 19 | 238 | 0.0798 | 28 | c.395 others(49): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01952.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043a0001c0001t0001g0160a0001c0001t0002g0161 | 3 | 238 | 0.0126 | 28 | c.395 others(49): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85858621 | C | CTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01123.hp1 HG01123.hp2 others(19): Show |
a0001a0003a0004others(10): Show | a0001c0001a0003c0007a0004c0002others(10): Show | a0001c0001t0003a0003c0007t0002a0004c0002t0001others(15): Show | a0001c0001t0003g0157a0003c0007t0002g0090a0004c0002t0001g0154others(19): Show | 22 | 238 | 0.0924 | 28 | c.330 others(47): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 |
a0042a0048 | a0042c0065a0048c0075 | a0042c0065t0004a0048c0075t0008 | a0042c0065t0004g0188a0048c0075t0008g0217 | 2 | 238 | 0.0084 | 28 | c.277 others(45): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 238 | 0.0042 | 28 | c.231 others(47): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86097556 | C | CCCCCCTC others(21): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01109.hp1 others(23): Show |
a0002a0007a0015others(5): Show | a0002c0003a0002c0011a0007c0010others(8): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(14): Show | a0002c0003t0001g0166a0002c0003t0001g0167a0002c0003t0001g0220others(23): Show | 26 | 238 | 0.1092 | 28 | c.160 others(47): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108832973 | T | TAATAAAT others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01167.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0048a0001c0001t0001g0068a0001c0001t0001g0080others(16): Show | 19 | 130 | 0.1462 | 28 | c.165 others(45): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108832974 | A | AATAAATA others(21): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0017 | 1 | 130 | 0.0077 | 28 | c.165 others(45): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109019373 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02145.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0075a0001c0005t0002g0123 | 2 | 130 | 0.0154 | 28 | c.421 others(45): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109019375 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0124 | 1 | 130 | 0.0077 | 28 | c.421 others(45): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109250369 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02293.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(2): Show | a0001c0001t0001g0099a0001c0001t0002g0091a0001c0001t0002g0100others(6): Show | 9 | 130 | 0.0692 | 28 | c.367 others(47): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109256085 | G | GGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0042 | 1 | 130 | 0.0077 | 28 | c.367 others(47): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101385367 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0126 | 1 | 174 | 0.0058 | 28 | c.158 others(47): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101463775 | T | TTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0014 | a0001c0014t0009 | a0001c0014t0009g0117 | 1 | 174 | 0.0058 | 28 | c.385 others(47): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101463869 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0074a0002c0003t0001g0087 | 2 | 174 | 0.0115 | 28 | c.385 others(47): 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(21): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02074.hp2 |
a0026a0027 | a0026c0049a0027c0050 | a0026c0049t0004a0027c0050t0005 | a0026c0049t0004g0192a0027c0050t0005g0193 | 2 | 308 | 0.0065 | 28 | c.134 others(45): 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(21): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18948.hp2 |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0002a0003c0005t0003 | a0001c0003t0002g0080a0003c0005t0003g0228 | 2 | 308 | 0.0065 | 28 | c.314 others(45): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114253295 | A | AAAAGAAA others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG00741.hp2 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0003a0001c0130a0001c0139others(5): Show | a0001c0003t0006a0001c0130t0002a0001c0139t0002others(5): Show | a0001c0003t0006g0144a0001c0130t0002g0105a0001c0139t0002g0089others(5): Show | 8 | 308 | 0.0260 | 28 | c.314 others(45): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL3A1_chr2_188969373_189017746 | 189013488 | A | AATATATA others(21): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 376 | 0.0027 | 28 | c.*17 others(39): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 743 | chr2 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252469 | T | TATAATTA others(21): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0197 | 1 | 344 | 0.0029 | 28 | c.85- others(43): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252560 | T | TGTATATA others(21): Show |
intron_variant | MODIFIER | HG03130.hp1 NA20300.hp2 |
a0001a0002 | a0001c0006a0002c0015 | a0001c0006t0003a0002c0015t0004 | a0001c0006t0003g0076a0002c0015t0004g0268 | 2 | 344 | 0.0058 | 28 | c.85- others(43): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481803 | T | TGCTGGAG others(21): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02004.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0003a0001c0008t0004 | a0001c0003t0003g0065a0001c0008t0004g0285 | 2 | 372 | 0.0054 | 28 | c.275 others(45): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110509245 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18951.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0004a0001c0005t0002 | a0001c0004t0004g0354a0001c0005t0002g0332 | 2 | 372 | 0.0054 | 28 | c.488 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110509270 | T | TATATACA others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0011 | a0001c0011t0022 | a0001c0011t0022g0358 | 1 | 372 | 0.0027 | 28 | c.488 others(47): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202888 | T | TATATATG others(21): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0263 | 1 | 344 | 0.0029 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202898 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0010 | a0010c0018 | a0010c0018t0002 | a0010c0018t0002g0104 | 1 | 344 | 0.0029 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202982 | C | CATATGTG others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0095 | 1 | 344 | 0.0029 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203074 | T | TATATATG others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0002 | 1 | 344 | 0.0029 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203312 | T | TATACATA others(21): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02056.hp2 |
a0001a0010 | a0001c0001a0010c0018 | a0001c0001t0001a0010c0018t0002 | a0001c0001t0001g0203a0010c0018t0002g0104 | 2 | 344 | 0.0058 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203362 | C | CCCATATA others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03453.hp1 |
a0001a0002 | a0001c0042a0002c0004 | a0001c0042t0015a0002c0004t0003 | a0001c0042t0015g0331a0002c0004t0003g0091 | 2 | 344 | 0.0058 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203437 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0091 | 1 | 344 | 0.0029 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203603 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG01516.hp2 NA18906.hp2 |
a0031a0037 | a0031c0038a0037c0056 | a0031c0038t0003a0037c0056t0004 | a0031c0038t0003g0103a0037c0056t0004g0009 | 2 | 344 | 0.0058 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203729 | A | ATATATGT others(21): Show |
intron_variant | MODIFIER | HG02083.hp2 NA19000.hp1 NA19065.hp1 |
a0004a0008a0015 | a0004c0003a0008c0009a0015c0025 | a0004c0003t0004a0008c0009t0001a0015c0025t0004 | a0004c0003t0004g0221a0008c0009t0001g0193a0015c0025t0004g0127 | 3 | 344 | 0.0087 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203759 | A | ATATGTGT others(21): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 344 | 0.0029 | 28 | c.88- others(45): 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(21): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0014 | a0014c0023 | a0014c0023t0002 | a0014c0023t0002g0338 | 1 | 344 | 0.0029 | 28 | c.88- others(45): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227218009 | A | ATATAACT others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01934.hp1 HG01978.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0003 | a0001c0001t0001a0003c0002t0003a0004c0003t0019 | a0001c0001t0001g0098a0001c0001t0001g0138a0003c0002t0003g0159others(2): Show | 5 | 344 | 0.0145 | 28 | c.88- others(45): 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(21): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 344 | 0.0029 | 28 | c.546 others(43): 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(21): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0037 | a0037c0056 | a0037c0056t0004 | a0037c0056t0004g0009 | 1 | 344 | 0.0029 | 28 | c.546 others(43): 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(21): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0190 | 1 | 344 | 0.0029 | 28 | c.546 others(43): 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(21): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0095 | 1 | 344 | 0.0029 | 28 | c.546 others(43): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |