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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP5_chr2_124020287_124926219 | 124828735 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02723.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0011 a0001c0001t0003g0006 a0001c0001t0009g0061 others(3): Show |
6 | 18 | 0.3333 | -9 | c.321 others(30): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644715 | TAGATAGA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0156 a0001c0001t0001g0158 others(2): Show |
5 | 241 | 0.0207 | -9 | c.264 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691407 | GGAAGGAA others(2): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02027.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0198 others(4): Show |
7 | 355 | 0.0197 | -9 | c.-39 others(28): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA5_chr2_98594314_98613512 | 98606768 | ACGTCTGG others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 NA18941.hp2 NA18944.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0029 a0001c0001t0003g0059 |
8 | 418 | 0.0191 | -9 | c.99+ others(24): Show |
COA5 | ENSG00000183513.9 | transcript | ENST00000328709.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164822734 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02622.hp2 others(3): Show |
a0001a0004a0016others(1): Show | a0001c0001a0001c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0002t0051a0004c0005t0015others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0102 a0001c0002t0051g0003 others(3): Show |
6 | 96 | 0.0625 | -9 | c.41+ others(26): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51058554 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(106): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0001c0006others(30): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(45): Show | a0001c0003t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0005 others(105): Show |
109 | 110 | 0.9909 | -9 | c.109 others(30): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51086358 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG01261.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0004a0002c0015others(3): Show | a0001c0003t0001a0002c0004t0001a0002c0015t0001others(3): Show | a0001c0003t0001g0002 a0001c0003t0001g0003 a0002c0004t0001g0011 others(6): Show |
9 | 121 | 0.0744 | -9 | c.958 others(26): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COG2_chr1_230637481_230698982 | 230681983 | TTATCATA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03225.hp1 NA20129.hp1 |
a0001a0003a0009 | a0001c0008a0003c0003a0009c0023 | a0001c0008t0001a0003c0003t0001a0009c0023t0001 | a0001c0008t0001g0278 a0003c0003t0001g0129 a0009c0023t0001g0241 |
3 | 404 | 0.0074 | -9 | c.116 others(28): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
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 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0002t0002g0002 others(5): Show |
8 | 352 | 0.0227 | -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 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0004g0214 |
3 | 270 | 0.0111 | -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 |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0005 | a0001c0001t0002a0001c0001t0004a0002c0003t0004others(1): Show | a0001c0001t0002g0053 a0001c0001t0004g0006 a0001c0001t0004g0027 others(3): Show |
16 | 200 | 0.0800 | -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(117): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0005others(27): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(33): Show | a0001c0002t0001g0095 a0001c0002t0002g0155 a0001c0002t0003g0083 others(117): Show |
120 | 182 | 0.6593 | -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 | a0001c0001t0001g0086 a0001c0001t0001g0149 a0001c0002t0001g0213 others(4): Show |
7 | 322 | 0.0217 | -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 |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0039 others(30): Show |
33 | 320 | 0.1031 | -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 |
a0001a0011a0012others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0002others(4): Show | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0004t0001g0196 others(6): Show |
9 | 289 | 0.0311 | -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 |
a0001a0026 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0012a0001c0003t0001others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0122 others(11): Show |
14 | 287 | 0.0488 | -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(278): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(92): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(111): Show | a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0073 others(278): Show |
281 | 288 | 0.9757 | -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 | a0002c0003t0002g0045 a0002c0006t0003g0065 a0002c0006t0003g0066 others(3): Show |
6 | 26 | 0.2308 | -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 | a0001c0001t0002g0149 a0001c0001t0002g0198 a0001c0001t0002g0238 |
3 | 288 | 0.0104 | -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 | a0001c0001a0002c0009a0003c0004 | a0001c0001t0003a0002c0009t0006a0003c0004t0002 | a0001c0001t0003g0006 a0001c0001t0003g0122 a0001c0001t0003g0142 others(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(1): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0049 a0001c0001t0002g0202 a0001c0001t0003g0018 others(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 | a0001c0001t0003g0119 a0001c0001t0005g0144 a0002c0009t0006g0232 others(1): Show |
4 | 236 | 0.0169 | -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 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0122 a0001c0001t0003g0159 a0001c0001t0005g0161 others(9): Show |
12 | 166 | 0.0723 | -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 | a0001c0001a0001c0005a0002c0019others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(17): Show | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0160 others(26): Show |
29 | 87 | 0.3333 | -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 | a0001c0005a0002c0027a0003c0011others(4): Show | a0001c0005t0003a0002c0027t0008a0003c0011t0003others(4): Show | a0001c0005t0003g0060 a0001c0005t0003g0224 a0002c0027t0008g0064 others(6): Show |
9 | 204 | 0.0441 | -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 |
a0008a0010a0042 | a0008c0006a0008c0049a0010c0009others(1): Show | a0008c0006t0001a0008c0006t0002a0008c0049t0002others(4): Show | a0008c0006t0001g0034 a0008c0006t0001g0048 a0008c0006t0001g0049 others(11): Show |
14 | 24 | 0.5833 | -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 | a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0068 others(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 | a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0079 others(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(40): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(9): Show | a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 others(40): Show |
43 | 172 | 0.2500 | -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 | a0001c0001t0001g0115 a0001c0001t0002g0086 a0001c0001t0002g0114 others(32): Show |
35 | 77 | 0.4545 | -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 |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(17): Show | a0001c0001t0002g0061 a0001c0001t0002g0083 a0001c0001t0002g0085 others(59): Show |
62 | 172 | 0.3605 | -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 | a0002c0004t0001g0140 a0003c0010t0022g0122 |
2 | 172 | 0.0116 | -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 | a0001c0001t0002g0174 a0001c0001t0005g0059 a0001c0001t0005g0145 others(47): Show |
50 | 125 | 0.4000 | -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 |
a0009a0010a0011others(3): Show | a0009c0007a0010c0042a0011c0069others(3): Show | a0009c0007t0008a0010c0042t0008a0011c0069t0031others(3): Show | a0009c0007t0008g0016 a0010c0042t0008g0093 a0011c0069t0031g0163 others(3): Show |
6 | 150 | 0.0400 | -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 |
a0002a0003a0017others(1): Show | a0002c0002a0003c0003a0017c0045others(1): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0002others(3): Show | a0002c0002t0001g0139 a0003c0003t0001g0159 a0003c0003t0002g0073 others(8): Show |
11 | 194 | 0.0567 | -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 | a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266 |
3 | 370 | 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 |
a0001a0003a0011 | a0001c0001a0003c0002a0003c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(2): Show | a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0002g0318 others(3): Show |
6 | 341 | 0.0176 | -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 | a0002c0007t0003g0145 a0002c0026t0014g0071 a0002c0026t0014g0203 others(5): Show |
8 | 333 | 0.0240 | -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 | a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0002g0093 others(31): Show |
34 | 287 | 0.1185 | -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 | a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 others(101): Show |
104 | 148 | 0.7027 | -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(141): Show |
a0002a0003a0004others(26): Show | a0002c0002a0002c0019a0002c0021others(39): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(51): Show | a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 others(141): Show |
144 | 273 | 0.5275 | -9 | c.137 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 20/47 | chr2 | TogoVar | |||||||
COL4A5_chrX_108434838_108702545 | 108526662 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA18941.hp1 NA18998.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0066 |
3 | 266 | 0.0113 | -9 | c.82- others(26): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | 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 | a0003c0004t0004g0001 a0003c0004t0004g0002 a0003c0004t0004g0054 others(4): Show |
7 | 115 | 0.0609 | -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 | a0001c0001t0002g0082 a0001c0001t0002g0111 a0001c0001t0002g0245 others(16): Show |
19 | 270 | 0.0704 | -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 | a0001c0001t0023g0009 a0001c0002t0009g0143 a0001c0002t0009g0160 others(4): Show |
7 | 43 | 0.1628 | -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 | a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 others(5): Show |
8 | 118 | 0.0678 | -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 | a0001c0001t0001g0115 a0001c0001t0001g0167 a0001c0001t0001g0172 others(18): Show |
21 | 28 | 0.7500 | -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 | a0001c0009t0001g0113 a0001c0009t0001g0122 a0001c0009t0001g0123 |
3 | 80 | 0.0375 | -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 | a0001c0001t0001g0114 a0001c0001t0001g0171 a0001c0001t0001g0181 others(17): Show |
20 | 27 | 0.7407 | -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 | a0001c0011t0001g0112 a0001c0011t0001g0121 a0001c0011t0001g0122 |
3 | 81 | 0.0370 | -9 | c.*18 others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1507 | chr21 | TogoVar |