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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03098.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0008a0001c0010a0001c0062 | a0001c0008t0002a0001c0010t0005a0001c0010t0012others(1): Show | a0001c0008t0002g0163 a0001c0010t0005g0164 a0001c0010t0012g0115 others(1): Show |
4 | 230 | 0.0174 | 18 | c.958 others(37): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51108917 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0004 | a0004c0012 | a0004c0012t0003 | a0004c0012t0003g0221 | 1 | 230 | 0.0044 | 18 | c.958 others(37): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51307348 | C | CAAAACAA others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0034 | a0001c0034t0005 | a0001c0034t0005g0182 | 1 | 230 | 0.0044 | 18 | c.41+ others(33): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COCH_chr14_30869559_30895618 | 30895053 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0127 a0001c0001t0003g0007 |
2 | 478 | 0.0042 | 18 | c.*52 others(29): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 4436 | chr14 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73190196 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 HG03139.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0107 a0002c0001t0001g0110 |
2 | 428 | 0.0047 | 18 | c.-28 others(29): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 2858 | chr17 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73190196 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG03225.hp2 |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0005 | a0001c0004t0001a0002c0001t0001a0003c0005t0001 | a0001c0004t0001g0024 a0002c0001t0001g0014 a0003c0005t0001g0099 |
3 | 428 | 0.0070 | 18 | c.-28 others(29): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 2858 | chr17 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73198634 | T | TGGCTGAG others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0089 | 1 | 428 | 0.0023 | 18 | c.914 others(35): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COG1_chr17_73188055_73213507 | 73207092 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0046 | 1 | 428 | 0.0023 | 18 | c.273 others(33): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45486339 | C | CGGGAGAG others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02071.hp1 HG03239.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0058 others(6): Show |
9 | 342 | 0.0263 | 18 | c.844 others(33): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45497784 | T | TCAACAAC others(11): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02132.hp1 NA18945.hp2 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0005 a0002c0003t0002g0160 a0002c0003t0002g0166 others(6): Show |
10 | 342 | 0.0292 | 18 | c.148 others(37): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45508068 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0201 | 1 | 342 | 0.0029 | 18 | c.159 others(37): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39651677 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02976.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 a0001c0001t0003g0046 a0001c0001t0003g0047 others(1): Show |
5 | 370 | 0.0135 | 18 | c.-40 others(29): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3984 | chr13 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39684243 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0329 | 1 | 370 | 0.0027 | 18 | c.788 others(35): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39730773 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01258.hp1 HG01346.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0094 a0001c0001t0001g0105 others(8): Show |
11 | 370 | 0.0297 | 18 | c.182 others(37): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23409088 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01993.hp2 HG03195.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 a0002c0002t0003g0096 a0002c0002t0003g0115 others(1): Show |
5 | 272 | 0.0184 | 18 | c.147 others(37): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23409088 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01070.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003a0002c0002t0007 | a0001c0001t0002g0064 a0002c0002t0003g0007 a0002c0002t0003g0011 others(13): Show |
17 | 272 | 0.0625 | 18 | c.147 others(37): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23409088 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01109.hp1 HG01256.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0035 others(13): Show |
16 | 272 | 0.0588 | 18 | c.147 others(37): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23409097 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 272 | 0.0037 | 18 | c.147 others(37): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102878475 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01952.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0006a0002c0001others(5): Show | a0001c0002t0001a0001c0002t0003a0001c0006t0001others(6): Show | a0001c0002t0001g0095 a0001c0002t0003g0064 a0001c0006t0001g0046 others(10): Show |
13 | 184 | 0.0707 | 18 | c.527 others(35): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 66/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102889383 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 184 | 0.0054 | 18 | c.446 others(33): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 59/66 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75140655 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18747.hp1 |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0001a0005c0008t0006 | a0002c0002t0001g0178 a0005c0008t0006g0036 |
2 | 206 | 0.0097 | 18 | c.495 others(37): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 27/65 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208124 | T | TTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 206 | 0.0049 | 18 | c.-23 others(29): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2072 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208152 | C | CTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 HG03516.hp1 |
a0006a0010 | a0006c0007a0010c0009 | a0006c0007t0006a0010c0009t0002 | a0006c0007t0006g0040 a0010c0009t0002g0003 |
2 | 206 | 0.0097 | 18 | c.-24 others(29): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2100 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208156 | C | CTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 NA19030.hp2 NA20300.hp2 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0003a0001c0001t0010a0005c0013t0006 | a0001c0001t0003g0155 a0001c0001t0010g0171 a0005c0013t0006g0147 |
3 | 206 | 0.0146 | 18 | c.-24 others(29): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2104 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208158 | C | CTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 206 | 0.0049 | 18 | c.-24 others(29): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2106 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208164 | C | CTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 HG02523.hp1 HG02698.hp2 others(2): Show |
a0001 | a0001c0001a0001c0045 | a0001c0001t0001a0001c0045t0001 | a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0093 others(2): Show |
5 | 206 | 0.0243 | 18 | c.-24 others(29): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2112 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0208 | 1 | 324 | 0.0031 | 18 | c.294 others(35): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69904358 | G | GACTCAGG others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03453.hp2 |
a0001a0003 | a0001c0002a0003c0026 | a0001c0002t0004a0003c0026t0004 | a0001c0002t0004g0296 a0003c0026t0004g0312 |
2 | 324 | 0.0062 | 18 | c.859 others(33): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 15/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69939145 | G | GCATTCAT others(11): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0032 | 1 | 324 | 0.0031 | 18 | c.187 others(37): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 34/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120166875 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 218 | 0.0046 | 18 | c.350 others(35): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120202989 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02630.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0024a0002c0002others(3): Show | a0001c0001t0003a0001c0024t0003a0002c0002t0001others(4): Show | a0001c0001t0003g0149 a0001c0024t0003g0104 a0002c0002t0001g0200 others(4): Show |
7 | 218 | 0.0321 | 18 | c.878 others(33): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120334583 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 218 | 0.0046 | 18 | c.478 others(37): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99024268 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18955.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0082 a0002c0002t0001g0109 |
2 | 310 | 0.0065 | 18 | c.185 others(35): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 14/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99066607 | T | TTGTTTGT others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02818.hp2 HG03471.hp2 others(1): Show |
a0019a0046 | a0019c0024a0046c0056 | a0019c0024t0006a0046c0056t0006 | a0019c0024t0006g0122 a0019c0024t0006g0124 a0019c0024t0006g0166 others(1): Show |
4 | 310 | 0.0129 | 18 | c.365 others(35): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707385 | T | TTTTCTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG02056.hp2 others(5): Show |
a0002a0008 | a0002c0002a0002c0004a0002c0014others(2): Show | a0002c0002t0002a0002c0004t0001a0002c0014t0002others(2): Show | a0002c0002t0002g0049 a0002c0002t0002g0053 a0002c0002t0002g0071 others(5): Show |
8 | 342 | 0.0234 | 18 | c.-35 others(29): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104055444 | T | TCTCACAC others(11): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0017 | a0017c0049 | a0017c0049t0001 | a0017c0049t0001g0052 | 1 | 336 | 0.0030 | 18 | c.168 others(33): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 18/55 | chr10 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45485149 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0166 | 1 | 292 | 0.0034 | 18 | c.170 others(37): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45496071 | C | CATGCCCT others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp1 others(39): Show |
a0001a0005a0013others(7): Show | a0001c0003a0001c0004a0001c0005others(15): Show | a0001c0003t0001a0001c0004t0001a0001c0004t0016others(17): Show | a0001c0003t0001g0110 a0001c0003t0001g0287 a0001c0004t0001g0013 others(39): Show |
42 | 292 | 0.1438 | 18 | c.250 others(35): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 29/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921077 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 182 | 0.0055 | 18 | c.267 others(35): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921356 | A | AATCATAT others(11): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0007 | a0001c0007t0017 | a0001c0007t0017g0147 | 1 | 182 | 0.0055 | 18 | c.267 others(35): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921481 | T | TATAGATT others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02809.hp1 others(6): Show |
a0001a0002a0010 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0006a0002c0003t0018a0002c0004t0006others(4): Show | a0001c0001t0006g0107 a0002c0003t0018g0138 a0002c0004t0006g0108 others(6): Show |
9 | 182 | 0.0495 | 18 | c.267 others(35): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921481 | T | TATATATT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(61): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0038a0001c0001t0041others(24): Show | a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0077 others(61): Show |
64 | 182 | 0.3517 | 18 | c.267 others(35): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70215912 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0040 | 1 | 182 | 0.0055 | 18 | c.*86 others(29): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 3445 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56053862 | A | AGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0189 | 1 | 264 | 0.0038 | 18 | c.*37 others(29): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56097905 | A | ATATATAA others(11): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18957.hp1 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0121 |
4 | 264 | 0.0152 | 18 | c.181 others(37): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098184 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0111 | 1 | 264 | 0.0038 | 18 | c.181 others(37): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098606 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0101 a0001c0001t0003g0078 a0001c0001t0006g0020 others(1): Show |
4 | 264 | 0.0152 | 18 | c.181 others(37): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098640 | T | TATATAAA others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 264 | 0.0038 | 18 | c.181 others(37): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56129675 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01978.hp2 HG04228.hp2 NA18941.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0135 a0001c0001t0005g0156 a0001c0001t0005g0226 others(8): Show |
11 | 264 | 0.0417 | 18 | c.154 others(37): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56129699 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0065 | 1 | 264 | 0.0038 | 18 | c.154 others(37): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar |