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 | 70506606 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG02738.hp2 HG03491.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0302a0001c0002t0002g0343a0001c0003t0002g0324 | 3 | 354 | 0.0085 | -12 | c.106 others(31): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102945247 | ACTCTCTC others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02895.hp2 others(3): Show |
a0001a0010 | a0001c0008a0010c0028 | a0001c0008t0006a0010c0028t0006 | a0001c0008t0006g0002a0001c0008t0006g0003a0001c0008t0006g0004others(3): Show | 6 | 184 | 0.0326 | -12 | c.327 others(31): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 42/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102967227 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0058 | 1 | 184 | 0.0054 | -12 | c.286 others(31): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 37/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103006526 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 |
a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0023a0008c0018t0001g0082 | 2 | 184 | 0.0109 | -12 | c.168 others(29): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 15/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103027396 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0016a0002c0001a0003c0011others(3): Show | a0001c0016t0001a0002c0001t0001a0002c0001t0002others(4): Show | a0001c0016t0001g0102a0002c0001t0001g0116a0002c0001t0001g0122others(11): Show | 14 | 184 | 0.0761 | -12 | c.781 others(29): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 5/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103036322 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp2 others(12): Show |
a0001a0003a0004others(2): Show | a0001c0005a0001c0008a0003c0026others(3): Show | a0001c0005t0004a0001c0008t0006a0003c0026t0002others(3): Show | a0001c0005t0004g0015a0001c0008t0006g0002a0001c0008t0006g0003others(12): Show | 15 | 184 | 0.0815 | -12 | c.652 others(29): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103037252 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02257.hp2 others(2): Show |
a0001a0004 | a0001c0002a0004c0012 | a0001c0002t0003a0004c0012t0003 | a0001c0002t0003g0037a0001c0002t0003g0038a0004c0012t0003g0010others(2): Show | 5 | 184 | 0.0272 | -12 | c.652 others(29): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103042788 | CCTGCTCA others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03471.hp2 NA20129.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0017a0001c0006t0001g0035a0001c0006t0001g0159 | 3 | 184 | 0.0163 | -12 | c.652 others(31): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103065536 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02486.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0037a0001c0002t0003g0038 | 2 | 184 | 0.0109 | -12 | c.651 others(29): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75208168 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0011 | a0011c0049 | a0011c0049t0003 | a0011c0049t0003g0166 | 1 | 206 | 0.0049 | -12 | c.-24 others(23): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2116 | chr6 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69804809 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0081a0001c0001t0001g0149a0001c0001t0001g0151others(24): Show | 27 | 324 | 0.0833 | -12 | c.294 others(29): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69877697 | TCTCACAC others(5): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG02145.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0057a0001c0001t0002g0023a0001c0001t0007g0152others(1): Show | 4 | 324 | 0.0124 | -12 | c.436 others(27): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69877699 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(76): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0036others(76): Show | 79 | 324 | 0.2438 | -12 | c.436 others(27): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69936116 | GGAAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0319 | 1 | 324 | 0.0031 | -12 | c.177 others(29): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120128228 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG03225.hp1 |
a0001a0004 | a0001c0007a0004c0008 | a0001c0007t0001a0004c0008t0008 | a0001c0007t0001g0216a0004c0008t0008g0217 | 2 | 218 | 0.0092 | -12 | c.-38 others(29): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120166875 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG06807.hp2 NA18954.hp1 NA18955.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0012 | a0001c0003t0002a0001c0003t0014a0002c0002t0001others(1): Show | a0001c0003t0002g0056a0001c0003t0014g0106a0002c0002t0001g0098others(1): Show | 4 | 218 | 0.0184 | -12 | c.350 others(29): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120166920 | GTGGTGGT others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0084 | 1 | 218 | 0.0046 | -12 | c.350 others(29): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120200715 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01981.hp2 HG02132.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0026a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0117a0001c0001t0001g0134others(9): Show | 12 | 218 | 0.0551 | -12 | c.877 others(29): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120200755 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0044 | 1 | 218 | 0.0046 | -12 | c.877 others(29): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120202989 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0202 | 1 | 218 | 0.0046 | -12 | c.878 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120266396 | TCCTGGGG others(5): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG02615.hp1 HG02723.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0013a0002c0006a0003c0010others(2): Show | a0001c0013t0004a0002c0006t0006a0003c0010t0002others(2): Show | a0001c0013t0004g0085a0002c0006t0006g0213a0003c0010t0002g0078others(4): Show | 7 | 218 | 0.0321 | -12 | c.301 others(29): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 24/47 | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120325475 | CTGTTTGT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01071.hp1 others(33): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0021others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(10): Show | a0001c0001t0001g0137a0001c0001t0001g0151a0001c0001t0002g0016others(33): Show | 36 | 218 | 0.1651 | -12 | c.466 others(31): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120338885 | AGTAAACA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02486.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0002a0001c0003t0002a0001c0007t0001others(6): Show | a0001c0001t0002g0023a0001c0003t0002g0084a0001c0007t0001g0083others(8): Show | 11 | 218 | 0.0505 | -12 | c.478 others(31): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120354953 | TCTCCCCA others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0014a0001c0005t0001g0040a0001c0005t0001g0041others(2): Show | 5 | 218 | 0.0229 | -12 | c.507 others(31): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950550 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0221 | 1 | 310 | 0.0032 | -12 | c.100 others(29): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99073048 | GGTGTGTG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00621.hp2 | a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0058 | 1 | 310 | 0.0032 | -12 | c.*31 others(23): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2262 | chr9 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31664156 | AGGAAGGG others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0005others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0019others(168): Show | 204 | 342 | 0.5965 | -12 | c.355 others(31): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 56/70 | chr1 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104038231 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01358.hp2 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0006a0001c0026a0002c0002others(5): Show | a0001c0006t0004a0001c0026t0004a0002c0002t0004others(6): Show | a0001c0006t0004g0094a0001c0006t0004g0095a0001c0026t0004g0149others(11): Show | 17 | 336 | 0.0506 | -12 | c.307 others(29): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 45/55 | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104040570 | GTGGATGG others(5): Show |
G | intron_variant | MODIFIER | NA18939.hp2 | a0005 | a0005c0015 | a0005c0015t0003 | a0005c0015t0003g0196 | 1 | 336 | 0.0030 | -12 | c.270 others(29): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 39/55 | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104040590 | ATGGATGG others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(188): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0014a0001c0024others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(165): Show | 191 | 336 | 0.5685 | -12 | c.270 others(29): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 39/55 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437325 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG03209.hp2 others(3): Show |
a0001a0008 | a0001c0022a0001c0038a0008c0101 | a0001c0022t0001a0001c0038t0004a0008c0101t0005 | a0001c0022t0001g0008a0001c0022t0001g0021a0001c0022t0001g0131others(3): Show | 6 | 292 | 0.0206 | -12 | c.107 others(31): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45437736 | ACACTCAC others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02683.hp1 HG02809.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009others(1): Show | a0001c0001t0001a0001c0002t0012a0003c0009t0001others(1): Show | a0001c0001t0001g0142a0001c0002t0012g0109a0003c0009t0001g0167others(1): Show | 4 | 292 | 0.0137 | -12 | c.107 others(31): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45508277 | TAGGTAGA others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0019 | a0019c0096 | a0019c0096t0015 | a0019c0096t0015g0045 | 1 | 292 | 0.0034 | -12 | c.324 others(29): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 38/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69872133 | GTTTTTTG others(5): Show |
G | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0063 | 1 | 182 | 0.0055 | -12 | c.-33 others(29): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 1/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69881293 | GCATTTTA others(5): Show |
G | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 182 | 0.0055 | -12 | c.91+ others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69982973 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 NA18966.hp1 NA19074.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0006 | a0001c0002t0002a0002c0003t0002a0002c0006t0003 | a0001c0002t0002g0087a0002c0003t0002g0100a0002c0003t0002g0103others(1): Show | 4 | 182 | 0.0220 | -12 | c.102 others(33): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69986242 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 HG04184.hp1 others(2): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0018a0002c0003t0020a0002c0004t0001others(2): Show | a0002c0003t0018g0014a0002c0003t0020g0071a0002c0004t0001g0068others(2): Show | 5 | 182 | 0.0275 | -12 | c.102 others(33): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69997038 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0106 | 1 | 182 | 0.0055 | -12 | c.102 others(33): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70023967 | ACATATCT others(5): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0171 | 1 | 182 | 0.0055 | -12 | c.108 others(29): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 12/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70109541 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp2 HG02897.hp2 |
a0003 | a0003c0010 | a0003c0010t0013a0003c0010t0027 | a0003c0010t0013g0172a0003c0010t0013g0173a0003c0010t0027g0119 | 3 | 182 | 0.0165 | -12 | c.127 others(31): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 16/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL1A2_chr7_94389895_94436227 | 94435083 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01943.hp1 HG01952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062a0001c0001t0002g0002 | 4 | 438 | 0.0091 | -12 | c.*46 others(23): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 3857 | chr7 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56053862 | AGTGTGTG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01255.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0002 | a0001c0001t0001g0113a0001c0001t0006g0015a0001c0002t0002g0124others(4): Show | 7 | 264 | 0.0265 | -12 | c.*37 others(23): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56130200 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG04228.hp1 NA19000.hp1 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0002a0002c0008t0001 | a0001c0002t0002g0124a0002c0008t0001g0170 | 2 | 264 | 0.0076 | -12 | c.154 others(31): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56148338 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp2 others(8): Show |
a0004a0007 | a0004c0004a0004c0016a0007c0010 | a0004c0004t0002a0004c0004t0004a0004c0004t0013others(3): Show | a0004c0004t0002g0103a0004c0004t0002g0106a0004c0004t0004g0026others(8): Show | 11 | 264 | 0.0417 | -12 | c.143 others(31): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56165907 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp2 others(8): Show |
a0004a0007 | a0004c0004a0004c0016a0007c0010 | a0004c0004t0002a0004c0004t0004a0004c0004t0013others(3): Show | a0004c0004t0002g0103a0004c0004t0002g0106a0004c0004t0004g0026others(8): Show | 11 | 264 | 0.0417 | -12 | c.127 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 7/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56206693 | AATAAATA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG03195.hp1 |
a0004 | a0004c0004 | a0004c0004t0004a0004c0004t0013 | a0004c0004t0004g0028a0004c0004t0013g0004a0004c0004t0013g0005 | 3 | 264 | 0.0114 | -12 | c.-38 others(31): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138620941 | GCATCCAT others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02523.hp2 HG02622.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0014a0001c0017a0001c0044others(6): Show | a0001c0014t0001a0001c0014t0004a0001c0014t0011others(9): Show | a0001c0014t0001g0126a0001c0014t0004g0018a0001c0014t0011g0091others(11): Show | 14 | 158 | 0.0886 | -12 | c.377 others(31): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138620984 | TCCATCCA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0010a0001c0012a0001c0024others(1): Show | a0001c0010t0007a0001c0012t0002a0001c0024t0016others(1): Show | a0001c0010t0007g0155a0001c0012t0002g0059a0001c0024t0016g0158others(1): Show | 4 | 158 | 0.0253 | -12 | c.377 others(31): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138623258 | ATTTATGT others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02735.hp1 others(8): Show |
a0001a0002a0004 | a0001c0010a0001c0012a0001c0024others(4): Show | a0001c0010t0007a0001c0012t0002a0001c0024t0016others(7): Show | a0001c0010t0007g0155a0001c0012t0002g0059a0001c0024t0016g0158others(8): Show | 11 | 158 | 0.0696 | -12 | c.377 others(29): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138650670 | TTAGATAG others(5): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG03688.hp2 HG03710.hp2 others(2): Show |
a0001a0002 | a0001c0015a0002c0004a0002c0025 | a0001c0015t0001a0002c0004t0001a0002c0004t0006others(1): Show | a0001c0015t0001g0068a0002c0004t0001g0044a0002c0004t0001g0127others(2): Show | 5 | 158 | 0.0317 | -12 | c.333 others(29): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar |