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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COA1_chr7_43634257_43734523 | 43664103 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01257.hp2 HG01258.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0049 others(17): Show |
21 | 111 | 0.1892 | 22 | c.-38 others(41): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43710375 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0370 | 1 | 82 | 0.0122 | 22 | c.-39 others(41): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234370410 | A | ACCTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG02145.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 4 | 347 | 0.0115 | 22 | c.-30 others(33): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3045 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234370412 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 28 | 0.0357 | 22 | c.-30 others(33): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3043 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234383032 | A | AGAAGGAA others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 389 | 0.0026 | 22 | c.373 others(37): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234383064 | G | GAGGGAGG others(15): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01361.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0115 |
3 | 388 | 0.0077 | 22 | c.373 others(37): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164725101 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0188 | 1 | 175 | 0.0057 | 22 | c.662 others(39): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51061950 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0011 | 1 | 44 | 0.0227 | 22 | c.109 others(43): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51070392 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02155.hp2 NA18747.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0001c0006others(6): Show | a0001c0003t0003a0001c0005t0003a0001c0006t0003others(6): Show | a0001c0003t0003g0095 a0001c0005t0003g0116 a0001c0006t0003g0120 others(6): Show |
9 | 90 | 0.1000 | 22 | c.109 others(43): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0010 | 1 | 84 | 0.0119 | 22 | c.958 others(41): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COCH_chr14_30869559_30895618 | 30882120 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03041.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0141 a0001c0001t0001g0250 |
4 | 119 | 0.0336 | 22 | c.629 others(39): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30895053 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 62 | 0.0161 | 22 | c.*52 others(33): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 4436 | chr14 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73190196 | A | AACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02897.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0093 a0002c0001t0001g0102 |
2 | 242 | 0.0083 | 22 | c.-28 others(33): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 2858 | chr17 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73192846 | C | CCCCTCGC others(15): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0083 | 1 | 411 | 0.0024 | 22 | c.-22 others(31): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 208 | chr17 | TogoVar | |||||||
COG2_chr1_230637481_230698982 | 230680377 | G | GACCCTGG others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0025 others(34): Show |
49 | 404 | 0.1213 | 22 | c.116 others(41): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COG2_chr1_230637481_230698982 | 230680391 | T | TGCAGCAT others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01192.hp2 HG01257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171 a0001c0001t0001g0232 a0001c0001t0002g0043 others(2): Show |
6 | 404 | 0.0149 | 22 | c.116 others(41): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45513295 | A | ATATATAA others(15): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0010 | 1 | 340 | 0.0029 | 22 | c.180 others(41): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45513298 | C | CATATAAT others(15): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0005 | a0002c0005t0012 | a0002c0005t0012g0148 | 1 | 335 | 0.0030 | 22 | c.180 others(41): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39651677 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0021 | 1 | 10 | 0.1000 | 22 | c.-40 others(33): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3984 | chr13 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39684243 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 2 | 8 | 0.2500 | 22 | c.788 others(39): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706261 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03579.hp1 |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0010a0008c0009t0010 | a0002c0002t0010g0222 a0008c0009t0010g0221 |
2 | 361 | 0.0055 | 22 | c.128 others(41): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23408305 | G | GGGGGCGA others(15): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0135 | 1 | 259 | 0.0039 | 22 | c.147 others(41): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23409088 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03098.hp2 HG03209.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0100 others(3): Show |
6 | 142 | 0.0423 | 22 | c.147 others(41): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23409088 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 137 | 0.0073 | 22 | c.147 others(41): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102878475 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03041.hp1 HG03704.hp1 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0001a0003c0011a0004c0007others(1): Show | a0002c0001t0001a0003c0011t0001a0004c0007t0001others(1): Show | a0002c0001t0001g0132 a0002c0001t0001g0147 a0003c0011t0001g0044 others(2): Show |
5 | 7 | 0.7143 | 22 | c.527 others(39): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 66/66 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75092583 | T | TCAGGTAA others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG00741.hp1 others(49): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0038others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0005others(25): Show | a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0103 others(48): Show |
52 | 204 | 0.2549 | 22 | c.865 others(41): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 60/65 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208124 | T | TTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0085 | 1 | 192 | 0.0052 | 22 | c.-23 others(33): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2072 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208156 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0064 | 1 | 184 | 0.0054 | 22 | c.-24 others(33): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2104 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208160 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 189 | 0.0053 | 22 | c.-24 others(33): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2108 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208162 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 184 | 0.0054 | 22 | c.-24 others(33): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2110 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208164 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 NA18948.hp1 NA18985.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0004a0001c0005t0002a0002c0002t0001others(1): Show | a0001c0001t0004g0090 a0001c0005t0002g0142 a0002c0002t0001g0089 others(1): Show |
4 | 182 | 0.0220 | 22 | c.-24 others(33): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2112 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208166 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0045 | a0001c0045t0003 | a0001c0045t0003g0134 | 1 | 188 | 0.0053 | 22 | c.-24 others(33): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2114 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208168 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 156 | 0.0064 | 22 | c.-24 others(33): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2116 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02071.hp2 HG02083.hp2 others(10): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0080 a0001c0001t0001g0138 a0001c0002t0001g0184 others(10): Show |
13 | 252 | 0.0516 | 22 | c.294 others(39): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120202989 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02602.hp2 NA18980.hp2 |
a0002a0003a0011 | a0002c0002a0003c0004a0011c0038 | a0002c0002t0001a0003c0004t0001a0011c0038t0001 | a0002c0002t0001g0218 a0003c0004t0001g0199 a0011c0038t0001g0072 |
3 | 23 | 0.1304 | 22 | c.878 others(37): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99024268 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0310 | 1 | 235 | 0.0043 | 22 | c.185 others(39): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 14/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99066599 | G | GGTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19076.hp2 NA19078.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 a0002c0002t0001g0176 a0002c0002t0001g0235 |
3 | 106 | 0.0283 | 22 | c.365 others(39): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | chr9 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99066599 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0005 | a0005c0061 | a0005c0061t0001 | a0005c0061t0001g0041 | 1 | 104 | 0.0096 | 22 | c.365 others(39): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99066599 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18992.hp1 NA19002.hp2 others(2): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0006a0003c0036others(2): Show | a0002c0002t0001a0003c0006t0001a0003c0036t0001others(2): Show | a0002c0002t0001g0111 a0003c0006t0001g0146 a0003c0036t0001g0274 others(2): Show |
5 | 108 | 0.0463 | 22 | c.365 others(39): 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(15): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0012 | 1 | 199 | 0.0050 | 22 | c.-35 others(33): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | |||||||
COL16A1_chr1_31647263_31709017 | 31707396 | T | TTCTTTTC others(15): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 HG02523.hp2 NA18950.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0208 a0001c0001t0001g0253 a0001c0003t0002g0228 |
3 | 332 | 0.0090 | 22 | c.-35 others(33): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3380 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45405113 | G | GCCCCTGC others(15): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 NA19060.hp2 |
a0004a0006 | a0004c0033a0006c0016 | a0004c0033t0001a0006c0016t0002 | a0004c0033t0001g0275 a0006c0016t0002g0292 |
2 | 220 | 0.0091 | 22 | c.-11 others(31): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 51 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45506787 | C | CTGGAGCC others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02735.hp1 NA19012.hp1 |
a0001a0014 | a0001c0005a0001c0055a0014c0082 | a0001c0005t0003a0001c0055t0003a0014c0082t0002 | a0001c0005t0003g0213 a0001c0055t0003g0139 a0014c0082t0002g0085 |
3 | 282 | 0.0106 | 22 | c.321 others(39): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 37/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69896543 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0159 | 1 | 21 | 0.0476 | 22 | c.92- others(37): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70016366 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0106 | 1 | 136 | 0.0074 | 22 | c.102 others(41): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098172 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp2 others(15): Show |
a0001a0004a0005others(2): Show | a0001c0007a0004c0004a0004c0016others(3): Show | a0001c0007t0002a0001c0007t0004a0004c0004t0002others(6): Show | a0001c0007t0002g0260 a0001c0007t0002g0261 a0001c0007t0004g0065 others(15): Show |
18 | 102 | 0.1765 | 22 | c.181 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098174 | T | TATATAAA others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01168.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0197 others(11): Show |
14 | 157 | 0.0892 | 22 | c.181 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098658 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 247 | 0.0040 | 22 | c.181 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56121560 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03704.hp1 HG03834.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0247 a0001c0002t0002g0248 |
2 | 232 | 0.0086 | 22 | c.175 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02257.hp1 HG02647.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0018a0001c0024others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0102 a0001c0001t0001g0145 a0001c0001t0003g0029 others(7): Show |
10 | 41 | 0.2439 | 22 | c.143 others(41): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar |