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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL19A1_chr6_69861556_70217468 | 69971335 | GTGACTTT others(13): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0002 | a0002c0004a0002c0006a0002c0009 | a0002c0004t0001a0002c0006t0003a0002c0009t0004 | a0002c0004t0001g0161a0002c0006t0003g0065a0002c0006t0003g0066others(2): Show | 5 | 182 | 0.0275 | -20 | c.102 others(39): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56053862 | AGTGTGTG others(13): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0099a0001c0002t0003g0080 | 2 | 264 | 0.0076 | -20 | c.*37 others(31): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098576 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02155.hp1 HG03688.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0003a0002c0003t0006 | a0002c0003t0001g0109a0002c0003t0001g0115a0002c0003t0001g0116others(4): Show | 7 | 264 | 0.0265 | -20 | c.181 others(39): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56130192 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0069 | 1 | 264 | 0.0038 | -20 | c.154 others(39): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56206693 | AATAAATA others(13): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0001g0146a0001c0001t0008g0036a0001c0001t0011g0007others(2): Show | 5 | 264 | 0.0189 | -20 | c.-38 others(39): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56206697 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0014 | a0001c0014t0010 | a0001c0014t0010g0010 | 1 | 264 | 0.0038 | -20 | c.-38 others(39): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56211187 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 264 | 0.0038 | -20 | c.-38 others(39): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138692463 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01070.hp1 others(54): Show |
a0001a0002a0004others(4): Show | a0001c0008a0001c0010a0001c0016others(21): Show | a0001c0008t0001a0001c0010t0001a0001c0016t0001others(41): Show | a0001c0008t0001g0041a0001c0010t0001g0128a0001c0016t0001g0063others(54): Show | 57 | 158 | 0.3608 | -20 | c.275 others(39): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178311489 | TGTGTGTG others(13): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01243.hp1 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0049a0001c0001t0002g0202a0001c0001t0003g0067others(35): Show | 38 | 236 | 0.1610 | -20 | c.362 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358407 | GTGTATGT others(13): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 |
a0003a0004 | a0003c0005a0004c0006 | a0003c0005t0002a0004c0006t0003 | a0003c0005t0002g0005a0004c0006t0003g0130 | 2 | 236 | 0.0085 | -20 | c.362 others(39): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178498205 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG01978.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0189a0001c0001t0003g0073a0001c0001t0003g0210others(6): Show | 9 | 236 | 0.0381 | -20 | c.361 others(39): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85764455 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01934.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0100others(5): Show | 8 | 238 | 0.0336 | -20 | c.437 others(39): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85813532 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01099.hp2 others(37): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0003a0003c0016others(16): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(22): Show | a0001c0001t0001g0119a0001c0001t0002g0155a0001c0001t0002g0219others(37): Show | 40 | 238 | 0.1681 | -20 | c.395 others(39): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85858621 | CTCCTTCC others(13): Show |
C | intron_variant | MODIFIER | HG03453.hp2 HG03471.hp1 |
a0001a0009 | a0001c0005a0009c0042 | a0001c0005t0003a0009c0042t0003 | a0001c0005t0003g0224a0009c0042t0003g0111 | 2 | 238 | 0.0084 | -20 | c.330 others(39): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85875716 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG03927.hp1 NA18946.hp2 NA18981.hp1 |
a0003a0005 | a0003c0016a0005c0004 | a0003c0016t0005a0003c0016t0006a0005c0004t0002 | a0003c0016t0005g0012a0003c0016t0006g0013a0005c0004t0002g0190 | 3 | 238 | 0.0126 | -20 | c.303 others(37): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 33/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85947942 | TATTTCTT others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(203): Show |
a0001a0002a0003others(45): Show | a0001c0001a0001c0005a0001c0066others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0099others(203): Show | 206 | 238 | 0.8656 | -20 | c.256 others(41): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990229 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 130 | 0.0077 | -20 | c.439 others(39): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990231 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0003g0020a0001c0001t0004g0004a0001c0001t0012g0106others(2): Show | 5 | 130 | 0.0385 | -20 | c.439 others(39): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109127954 | TCCTATTG others(13): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0011a0001c0002t0005others(1): Show | a0001c0001t0001g0074a0001c0001t0011g0047a0001c0002t0005g0042others(1): Show | 4 | 130 | 0.0308 | -20 | c.368 others(39): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109256085 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 130 | 0.0077 | -20 | c.367 others(39): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101366498 | TTTTTTTT others(13): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01074.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0114a0001c0001t0002g0113a0001c0001t0002g0122others(18): Show | 21 | 174 | 0.1207 | -20 | c.158 others(37): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101391854 | CTTTCTTT others(13): Show |
C | 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 | -20 | c.159 others(39): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101434042 | TTCCCTCC others(13): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001a0002a0003 | a0001c0005a0002c0004a0002c0007others(2): Show | a0001c0005t0002a0002c0004t0001a0002c0004t0030others(3): Show | a0001c0005t0002g0155a0002c0004t0001g0156a0002c0004t0001g0157others(4): Show | 7 | 174 | 0.0402 | -20 | c.282 others(39): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101463632 | TTCCTTCC others(13): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0129 | 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 | 101473608 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0019 | 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 | 101489660 | TCTTCCTT others(13): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0156 | 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 | 101492699 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00733.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0003others(6): Show | a0001c0001t0002a0001c0001t0008a0001c0005t0002others(15): Show | a0001c0001t0002g0151a0001c0001t0002g0154a0001c0001t0008g0169others(28): Show | 31 | 174 | 0.1782 | -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 | 101557026 | TGGATGGA others(13): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG03209.hp1 HG06807.hp1 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0106a0001c0005t0005g0144a0001c0005t0005g0167 | 3 | 174 | 0.0172 | -20 | c.116 others(37): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7429427 | CACATACA others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(20): Show |
a0001a0002a0004others(8): Show | a0001c0005a0002c0002a0002c0004others(11): Show | a0001c0005t0002a0002c0002t0006a0002c0004t0003others(12): Show | a0001c0005t0002g0067a0001c0005t0002g0069a0002c0002t0006g0002others(20): Show | 23 | 196 | 0.1174 | -20 | c.199 others(39): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 25/34 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 48008116 | AGAGAGAG others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG02040.hp1 others(6): Show |
a0001a0005 | a0001c0002a0001c0006a0005c0011 | a0001c0002t0001a0001c0002t0003a0001c0006t0001others(1): Show | a0001c0002t0001g0002a0001c0002t0001g0020a0001c0002t0001g0157others(3): Show | 9 | 414 | 0.0217 | -20 | c.-38 others(31): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3641 | chr12 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 48008117 | GAGAGAGA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG03540.hp1 NA19043.hp1 NA20300.hp2 |
a0001 | a0001c0002a0001c0003a0001c0027 | a0001c0002t0001a0001c0003t0007a0001c0027t0001 | a0001c0002t0001g0002a0001c0003t0007g0021a0001c0027t0001g0185 | 3 | 414 | 0.0073 | -20 | c.-38 others(31): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3642 | chr12 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 189007096 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02723.hp2 HG02886.hp1 |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0009a0001c0006t0003a0002c0002t0001 | a0001c0001t0009g0116a0001c0006t0003g0091a0002c0002t0001g0264 | 3 | 376 | 0.0080 | -20 | c.325 others(37): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110170099 | GAGGAAGG others(13): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00621.hp2 others(81): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(36): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(41): Show | a0001c0001t0001g0001a0001c0001t0001g0062a0001c0001t0001g0082others(80): Show | 84 | 344 | 0.2442 | -20 | c.374 others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 42/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110170113 | AGAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(161): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(66): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(79): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0019others(160): Show | 164 | 344 | 0.4767 | -20 | c.374 others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 42/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253784 | CGTATAAT others(13): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02280.hp2 others(2): Show |
a0002a0003 | a0002c0004a0002c0029a0003c0009others(2): Show | a0002c0004t0001a0002c0029t0003a0003c0009t0001others(2): Show | a0002c0004t0001g0226a0002c0029t0003g0230a0003c0009t0001g0229others(2): Show | 5 | 344 | 0.0145 | -20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110254946 | GGTGAAGG others(13): Show |
G | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0161 | 1 | 344 | 0.0029 | -20 | c.85- others(37): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110390753 | GGCCTGAG others(13): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(176): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(79): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(131): Show | a0001c0001t0001g0001a0001c0001t0001g0155a0001c0001t0001g0189others(174): Show | 179 | 372 | 0.4812 | -20 | c.180 others(39): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193747 | GGGAAGGA others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00609.hp1 others(95): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0047a0002c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(33): Show | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0024others(95): Show | 98 | 344 | 0.2849 | -20 | c.87+ others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203055 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0044 | a0003c0044t0012 | a0003c0044t0012g0047 | 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 | 227203064 | CATATATG others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01256.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0002others(2): Show | a0001c0001t0001a0002c0004t0001a0003c0002t0003others(3): Show | a0001c0001t0001g0098a0001c0001t0001g0138a0001c0001t0001g0161others(11): Show | 14 | 344 | 0.0407 | -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 | 227208791 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01934.hp1 HG01978.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0003 | a0001c0001t0001a0003c0002t0003a0004c0003t0019 | a0001c0001t0001g0098a0001c0001t0001g0138a0003c0002t0003g0159others(2): Show | 5 | 344 | 0.0145 | -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 | 227250338 | TGATAGAT others(13): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0006 | a0006c0031 | a0006c0031t0006 | a0006c0031t0006g0081 | 1 | 344 | 0.0029 | -20 | c.547 others(35): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227291562 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(56): Show |
a0001a0003a0005others(6): Show | a0001c0001a0003c0002a0005c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(9): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(56): Show | 59 | 344 | 0.1715 | -20 | c.321 others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 37/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227291573 | AAAAAAAC others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01081.hp2 others(54): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0004a0002c0007others(15): Show | a0001c0001t0001a0002c0004t0001a0002c0007t0001others(19): Show | a0001c0001t0001g0148a0002c0004t0001g0154a0002c0004t0001g0168others(54): Show | 57 | 344 | 0.1657 | -20 | c.321 others(37): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 37/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227041720 | GAGGAAGG others(13): Show |
G | intron_variant | MODIFIER | HG02165.hp1 HG02896.hp1 |
a0006a0018 | a0006c0005a0018c0023 | a0006c0005t0004a0018c0023t0002 | a0006c0005t0004g0193a0018c0023t0002g0127 | 2 | 284 | 0.0070 | -20 | c.350 others(37): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041771 | GAAGGAAG others(13): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp1 HG02486.hp1 others(3): Show |
a0002a0004a0005others(1): Show | a0002c0002a0004c0004a0005c0007others(1): Show | a0002c0002t0002a0002c0002t0007a0004c0004t0002others(3): Show | a0002c0002t0002g0080a0002c0002t0007g0049a0004c0004t0002g0147others(3): Show | 6 | 284 | 0.0211 | -20 | c.350 others(37): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041775 | GAAGGAAG others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp2 NA18944.hp1 NA18955.hp1 others(1): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0002 | a0002c0002t0002g0036a0002c0002t0002g0188a0004c0004t0002g0187others(1): Show | 4 | 284 | 0.0141 | -20 | c.350 others(37): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041779 | GAAGGAAG others(13): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0247 | 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 | 227041836 | GAAAGAAA others(13): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0012 | a0012c0011 | a0012c0011t0003 | a0012c0011t0003g0231 | 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 | 227045813 | TATACACA others(13): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 NA18906.hp1 others(1): Show |
a0020a0035a0036 | a0020c0041a0020c0054a0035c0037others(1): Show | a0020c0041t0010a0020c0054t0010a0035c0037t0016others(1): Show | a0020c0041t0010g0028a0020c0054t0010g0020a0035c0037t0016g0003others(1): Show | 4 | 284 | 0.0141 | -20 | c.328 others(39): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar |