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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COG4_chr16_70475571_70528554 | 70506609 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01891.hp1 HG01891.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0002t0002g0026others(5): Show | 8 | 354 | 0.0226 | -9 | c.106 others(28): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23456360 | CGTCTCCC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 HG03130.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0227a0001c0001t0001g0228a0001c0001t0004g0215 | 3 | 272 | 0.0110 | -9 | c.-33 others(20): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 3172 | chr16 | TogoVar | ||||||
COG8_chr16_69321428_69344564 | 69331453 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02451.hp1 others(13): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0005 | a0001c0001t0006a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0006g0013a0001c0001t0006g0030a0001c0001t0010g0018others(5): Show | 16 | 360 | 0.0444 | -9 | c.158 others(26): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103103753 | AACAGATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(118): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0005others(29): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(35): Show | a0001c0002t0001g0095a0001c0002t0002g0155a0001c0002t0003g0104others(118): Show | 121 | 184 | 0.6576 | -9 | c.106 others(26): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 1/66 | chr1 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69863718 | ACAGGCTT others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG02895.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(3): Show | a0001c0001t0001g0086a0001c0001t0001g0149a0001c0002t0001g0213others(4): Show | 7 | 324 | 0.0216 | -9 | c.365 others(26): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69936169 | GAAGGAAG others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(30): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0039others(30): Show | 33 | 324 | 0.1019 | -9 | c.177 others(26): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45405327 | TGCGGGGG others(2): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02257.hp2 others(6): Show |
a0001a0013a0014others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0002others(4): Show | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0003t0001g0193others(6): Show | 9 | 292 | 0.0308 | -9 | c.12- others(20): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45496089 | TATGCCCT others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp1 HG02145.hp2 others(11): Show |
a0001a0005a0030 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0012a0001c0004t0001others(6): Show | a0001c0001t0001g0033a0001c0001t0001g0142a0001c0001t0001g0191others(11): Show | 14 | 292 | 0.0480 | -9 | c.250 others(26): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 29/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45504511 | CGGCCCCC others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0003others(92): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(112): Show | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0033others(279): Show | 282 | 292 | 0.9658 | -9 | c.283 others(18): Show |
p.Pro others(13): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 34/42 | 2904/5408 | 2838/4020 | 946/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
COL19A1_chr6_69861556_70217468 | 69896543 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
a0002a0005 | a0002c0003a0002c0006a0002c0009others(1): Show | a0002c0003t0002a0002c0006t0003a0002c0009t0004others(1): Show | a0002c0003t0002g0045a0002c0006t0003g0065a0002c0006t0003g0066others(3): Show | 6 | 182 | 0.0330 | -9 | c.92- others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63311022 | CGCCCCCC others(2): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149a0001c0001t0002g0198a0001c0001t0002g0238 | 3 | 290 | 0.0103 | -9 | c.139 others(26): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178311253 | GCAACTTA others(2): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0005 | a0001c0001t0003a0002c0009t0006a0003c0005t0002 | a0001c0001t0003g0006a0001c0001t0003g0122a0001c0001t0003g0142others(5): Show | 8 | 236 | 0.0339 | -9 | c.362 others(26): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178311719 | TTTTGTTT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(41): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0002g0049a0001c0001t0002g0202a0001c0001t0003g0119others(41): Show | 44 | 236 | 0.1864 | -9 | c.362 others(26): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178525982 | CTTGAAGA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02965.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0009a0004c0006 | a0001c0001t0003a0001c0001t0005a0002c0009t0006others(1): Show | a0001c0001t0003g0119a0001c0001t0005g0144a0002c0009t0006g0232others(1): Show | 4 | 236 | 0.0170 | -9 | c.361 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178581565 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02809.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0122a0001c0001t0003g0159a0001c0001t0005g0161others(9): Show | 12 | 236 | 0.0509 | -9 | c.294 others(26): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85824903 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01169.hp1 others(26): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(17): Show | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0160others(26): Show | 29 | 238 | 0.1219 | -9 | c.368 others(28): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 43/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85940403 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01169.hp1 others(6): Show |
a0001a0002a0003others(4): Show | a0001c0005a0002c0011a0003c0027others(4): Show | a0001c0005t0003a0002c0011t0003a0003c0027t0008others(4): Show | a0001c0005t0003g0060a0001c0005t0003g0224a0002c0011t0003g0213others(6): Show | 9 | 238 | 0.0378 | -9 | c.256 others(30): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86108620 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02074.hp1 HG02165.hp1 NA18946.hp1 others(11): Show |
a0008a0010a0040 | a0008c0006a0008c0049a0010c0009others(1): Show | a0008c0006t0001a0008c0006t0002a0008c0049t0002others(4): Show | a0008c0006t0001g0034a0008c0006t0001g0048a0008c0006t0001g0049others(11): Show | 14 | 238 | 0.0588 | -9 | c.159 others(28): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108952848 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02280.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0048a0001c0001t0001g0059a0001c0001t0001g0068others(14): Show | 17 | 130 | 0.1308 | -9 | c.493 others(28): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109007550 | CTTCCTCA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0041a0001c0001t0001g0062a0001c0001t0001g0079others(44): Show | 47 | 130 | 0.3615 | -9 | c.438 others(26): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101361768 | AAAGAAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(41): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(9): Show | a0001c0001t0002g0061a0001c0001t0002g0062a0001c0001t0002g0080others(41): Show | 44 | 174 | 0.2529 | -9 | c.-12 others(20): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1106 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101400353 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00621.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(17): Show | a0001c0001t0001g0114a0001c0001t0002g0084a0001c0001t0002g0111others(32): Show | 35 | 174 | 0.2012 | -9 | c.159 others(28): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101401653 | GGAGGAGG others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp1 others(59): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(17): Show | a0001c0001t0002g0061a0001c0001t0002g0081a0001c0001t0002g0083others(59): Show | 62 | 174 | 0.3563 | -9 | c.159 others(28): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101401736 | AAGGAGGA others(2): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03516.hp2 |
a0002a0003 | a0002c0004a0003c0010 | a0002c0004t0001a0003c0010t0022 | a0002c0004t0001g0129a0003c0010t0022g0166 | 2 | 174 | 0.0115 | -9 | c.159 others(28): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101554567 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp1 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0006others(17): Show | a0001c0001t0002g0174a0001c0001t0005g0059a0001c0001t0005g0135others(47): Show | 50 | 174 | 0.2874 | -9 | c.108 others(28): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114243924 | CATTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp1 others(3): Show |
a0008a0009a0011others(3): Show | a0008c0007a0009c0042a0011c0069others(3): Show | a0008c0007t0008a0009c0042t0008a0011c0069t0031others(3): Show | a0008c0007t0008g0011a0009c0042t0008g0093a0011c0069t0031g0161others(3): Show | 6 | 308 | 0.0195 | -9 | c.293 others(26): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 23/60 | chr9 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7417530 | GAGGGAGG others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00733.hp2 others(8): Show |
a0002a0003a0024others(1): Show | a0002c0002a0003c0003a0024c0045others(1): Show | a0002c0002t0002a0003c0003t0001a0003c0003t0002others(3): Show | a0002c0002t0002g0139a0003c0003t0001g0073a0003c0003t0001g0074others(8): Show | 11 | 196 | 0.0561 | -9 | c.213 others(26): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110458581 | ACACTTGA others(2): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 HG03453.hp2 |
a0002 | a0002c0054a0002c0055a0002c0056 | a0002c0054t0045a0002c0055t0016a0002c0056t0004 | a0002c0054t0045g0233a0002c0055t0016g0250a0002c0056t0004g0266 | 3 | 372 | 0.0081 | -9 | c.143 others(26): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 21/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202741 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01496.hp1 HG02257.hp1 others(3): Show |
a0001a0003a0010 | a0001c0001a0003c0002a0003c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(2): Show | a0001c0001t0001g0101a0001c0001t0001g0134a0001c0001t0002g0318others(3): Show | 6 | 344 | 0.0174 | -9 | c.88- others(26): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202745 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02559.hp2 others(5): Show |
a0002a0003a0006others(1): Show | a0002c0007a0002c0026a0003c0040others(3): Show | a0002c0007t0003a0002c0026t0014a0003c0040t0014others(4): Show | a0002c0007t0003g0092a0002c0026t0014g0071a0002c0026t0014g0146others(5): Show | 8 | 344 | 0.0233 | -9 | c.88- others(26): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227222163 | AATGATAA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01074.hp1 HG01109.hp2 others(31): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0002a0003c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0100a0001c0001t0001g0205a0001c0001t0002g0130others(31): Show | 34 | 344 | 0.0988 | -9 | c.88- others(26): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227028644 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(101): Show |
a0002a0004a0005others(10): Show | a0002c0002a0002c0021a0002c0058others(21): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(31): Show | a0002c0002t0002g0008a0002c0002t0002g0009a0002c0002t0002g0013others(101): Show | 104 | 284 | 0.3662 | -9 | c.397 others(26): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 41/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227091918 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(142): Show |
a0002a0003a0004others(26): Show | a0002c0002a0002c0019a0002c0021others(39): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(51): Show | a0002c0002t0002g0008a0002c0002t0002g0009a0002c0002t0002g0013others(142): Show | 145 | 284 | 0.5106 | -9 | c.137 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 20/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108526640 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0205 | 1 | 269 | 0.0037 | -9 | c.82- others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526648 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | NA18988.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0244 | 1 | 269 | 0.0037 | -9 | c.82- others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526662 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA18941.hp1 NA18998.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024a0002c0002t0001g0027a0002c0002t0001g0069 | 3 | 269 | 0.0112 | -9 | c.82- others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108172365 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0210 | 1 | 234 | 0.0043 | -9 | c.320 others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 32/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108414619 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02895.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0005 | a0003c0004t0004g0001a0003c0004t0004g0002a0003c0004t0004g0054others(4): Show | 7 | 234 | 0.0299 | -9 | c.63+ others(26): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134759226 | ACACATAC others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02055.hp1 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0002others(13): Show | a0001c0001t0002g0082a0001c0001t0002g0111a0001c0001t0002g0245others(16): Show | 19 | 272 | 0.0699 | -9 | c.193 others(26): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A2_chr2_189026898_189184761 | 189059585 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0023a0001c0002t0009a0001c0007t0005others(1): Show | a0001c0001t0023g0009a0001c0002t0009g0143a0001c0002t0009g0161others(4): Show | 7 | 248 | 0.0282 | -9 | c.208 others(26): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45981632 | TCTCCTCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01123.hp2 others(5): Show |
a0002a0003 | a0002c0002a0003c0028 | a0002c0002t0001a0002c0002t0004a0003c0028t0001 | a0002c0002t0001g0052a0002c0002t0001g0054a0002c0002t0001g0056others(5): Show | 8 | 128 | 0.0625 | -9 | c.-21 others(18): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 137 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46101847 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG01169.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(6): Show | a0001c0001t0001g0113a0001c0001t0001g0170a0001c0001t0001g0175others(18): Show | 21 | 372 | 0.0565 | -9 | c.-28 others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46134354 | TCAGGGGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03209.hp2 HG03225.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0111a0001c0009t0001g0120a0001c0009t0001g0121 | 3 | 372 | 0.0081 | -9 | c.*48 others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4554 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46101847 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG01169.hp1 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(7): Show | a0001c0001t0001g0113a0001c0001t0001g0172a0001c0001t0001g0182others(17): Show | 20 | 364 | 0.0550 | -9 | c.-28 others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46134354 | TCAGGGGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG03209.hp2 HG03225.hp1 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0111a0001c0011t0001g0120a0001c0011t0001g0121 | 3 | 364 | 0.0082 | -9 | c.*18 others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1507 | chr21 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99795590 | CCCTCCAG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0031 | a0001c0002t0010g0039a0001c0002t0010g0040a0001c0002t0010g0041others(2): Show | 5 | 262 | 0.0191 | -9 | c.170 others(18): Show |
p.Pro others(13): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 1900/5515 | 1701/2235 | 567/744 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
COL9A1_chr6_70211126_70308084 | 70255825 | TTGATATA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(110): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0004a0002c0008others(14): Show | a0001c0001t0004a0002c0004t0001a0002c0004t0003others(30): Show | a0001c0001t0004g0145a0001c0001t0004g0257a0002c0004t0001g0059others(107): Show | 113 | 362 | 0.3122 | -9 | c.150 others(26): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 21/37 | chr6 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70302204 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp1 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0012a0001c0019others(16): Show | a0001c0001t0002a0001c0001t0003a0001c0012t0001others(25): Show | a0001c0001t0002g0001a0001c0001t0002g0287a0001c0001t0002g0318others(85): Show | 93 | 362 | 0.2569 | -9 | c.15- others(22): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 1/37 | chr6 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40309594 | ACAGATGG others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(66): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0016a0002c0002others(5): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0074a0001c0001t0001g0078a0001c0001t0001g0079others(33): Show | 69 | 438 | 0.1575 | -9 | c.846 others(24): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 16/31 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321128 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0022others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0022t0001others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0118a0001c0001t0001g0119others(29): Show | 83 | 438 | 0.1895 | -9 | c.-39 others(20): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3843 | chr1 | TogoVar |