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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN4_chr3_2093866_3062959 | 2400418 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0007 | a0007c0018 | a0007c0018t0003 | a0007c0018t0003g0062 | 1 | 111 | 0.0090 | 38 | c.-89 others(57): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99941571 | A | AACACACA others(31): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 43 | 0.0233 | 38 | c.674 others(57): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1158755 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03453.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0177 a0001c0006t0001g0184 |
2 | 229 | 0.0087 | 38 | c.55+ others(55): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245308 | A | AACATATA others(31): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0008a0001c0003t0001others(2): Show | a0001c0001t0001g0045 a0001c0001t0001g0084 a0001c0001t0001g0094 others(8): Show |
11 | 224 | 0.0491 | 38 | c.358 others(57): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
CNTN6_chr3_1088024_1409217 | 1245308 | A | AACATATA others(31): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03471.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0160 a0001c0005t0001g0181 |
2 | 215 | 0.0093 | 38 | c.358 others(57): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
CNTN6_chr3_1088024_1409217 | 1245310 | A | AACATATA others(31): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0184 | 1 | 200 | 0.0050 | 38 | c.358 others(57): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
CNTN6_chr3_1088024_1409217 | 1384750 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0097 | 1 | 200 | 0.0050 | 38 | c.251 others(55): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146451857 | A | ACATACGT others(31): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 17 | 0.0588 | 38 | c.98- others(57): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146721042 | C | CTATGTAT others(31): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0004a0001c0012 | a0001c0004t0003a0001c0004t0005a0001c0012t0004 | a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 others(1): Show |
4 | 14 | 0.2857 | 38 | c.98- others(55): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146721889 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0011 | a0001c0011t0016 | a0001c0011t0016g0019 | 1 | 14 | 0.0714 | 38 | c.98- others(55): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146721889 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0025 | 1 | 14 | 0.0714 | 38 | c.98- others(55): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148301306 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 5 | 0.2000 | 38 | c.347 others(59): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148301306 | A | AAAATATA others(31): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0002 | 1 | 5 | 0.2000 | 38 | c.347 others(59): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41934112 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02738.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0024 | a0002c0002t0001g0054 a0002c0002t0024g0061 |
2 | 84 | 0.0238 | 38 | c.223 others(57): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42090783 | C | CATATGTG others(31): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0028 | a0028c0038 | a0028c0038t0002 | a0028c0038t0002g0016 | 1 | 57 | 0.0175 | 38 | c.197 others(57): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 2/23 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG02809.hp2 HG04228.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0069 a0006c0009t0001g0258 |
2 | 105 | 0.0190 | 38 | c.133 others(57): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 104 | 0.0096 | 38 | c.133 others(57): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0021 | 1 | 104 | 0.0096 | 38 | c.133 others(57): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76470495 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0061 | 1 | 184 | 0.0054 | 38 | c.165 others(57): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124571527 | C | CTTTTTCT others(31): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 7 | 0.1429 | 38 | c.175 others(57): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124786523 | G | GAAAGAAA others(31): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0060 a0001c0002t0006g0009 |
2 | 60 | 0.0333 | 38 | c.275 others(57): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43664103 | A | AAGAGAGA others(31): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 91 | 0.0110 | 38 | c.-38 others(57): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234383064 | G | GAGGGAGG others(31): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 386 | 0.0026 | 38 | c.373 others(53): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164805332 | T | TATATAAA others(31): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG02109.hp1 others(4): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0004c0032others(1): Show | a0001c0001t0018a0001c0002t0002a0001c0002t0058others(3): Show | a0001c0001t0018g0022 a0001c0001t0018g0023 a0001c0002t0002g0020 others(4): Show |
7 | 204 | 0.0343 | 38 | c.41+ others(55): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164818272 | G | GTATGTAT others(31): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0019 | a0019c0026 | a0019c0026t0008 | a0019c0026t0008g0039 | 1 | 176 | 0.0057 | 38 | c.41+ others(55): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51070392 | A | AACACACA others(31): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0006 | a0006c0023 | a0006c0023t0002 | a0006c0023t0002g0211 | 1 | 82 | 0.0122 | 38 | c.109 others(59): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(31): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 |
a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0008 a0001c0028t0001g0127 |
2 | 85 | 0.0235 | 38 | c.958 others(57): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51170534 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0013 | a0004c0013t0008 | a0004c0013t0008g0109 | 1 | 194 | 0.0052 | 38 | c.783 others(57): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(31): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 27 | 0.0370 | 38 | c.128 others(57): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(31): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03942.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0161 |
3 | 29 | 0.1034 | 38 | c.128 others(57): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(31): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0122 |
2 | 28 | 0.0714 | 38 | c.128 others(57): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103042974 | G | GTGAAATA others(31): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0058 | 1 | 168 | 0.0060 | 38 | c.652 others(57): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(31): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02735.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0002g0115 a0001c0001t0009g0140 a0001c0002t0001g0156 others(1): Show |
4 | 243 | 0.0165 | 38 | c.294 others(55): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120348306 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0005 | a0001c0001t0005g0086 a0001c0005t0005g0141 |
2 | 208 | 0.0096 | 38 | c.507 others(57): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104035851 | C | CGTATGGG others(31): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG00741.hp2 others(55): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0006a0001c0027others(13): Show | a0001c0001t0001a0001c0006t0002a0001c0006t0003others(22): Show | a0001c0001t0001g0067 a0001c0006t0002g0077 a0001c0006t0002g0094 others(50): Show |
58 | 66 | 0.8788 | 38 | c.341 others(55): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104035851 | C | CGTATGGG others(31): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(215): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0006a0001c0014others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(192): Show |
218 | 226 | 0.9646 | 38 | c.341 others(55): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45437548 | A | ACACACAC others(31): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 |
a0001a0015 | a0001c0013a0015c0068 | a0001c0013t0014a0015c0068t0002 | a0001c0013t0014g0212 a0015c0068t0002g0114 |
2 | 287 | 0.0070 | 38 | c.107 others(57): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437871 | C | CACAGGCA others(31): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0027 | a0027c0083 | a0027c0083t0002 | a0027c0083t0002g0154 | 1 | 290 | 0.0034 | 38 | c.107 others(57): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63290706 | C | CACCCACT others(31): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 288 | 0.0035 | 38 | c.-25 others(49): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 2479 | chr20 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098265 | A | ATAAATAT others(31): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0071 | 1 | 232 | 0.0043 | 38 | c.181 others(57): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098664 | T | TATAAATA others(31): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(12): Show |
a0001a0012 | a0001c0001a0012c0019 | a0001c0001t0001a0001c0001t0015a0012c0019t0006 | a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0174 others(10): Show |
15 | 205 | 0.0732 | 38 | c.181 others(57): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258236 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03471.hp2 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0003a0003c0004t0005 | a0002c0003t0003g0126 a0003c0004t0005g0132 |
2 | 135 | 0.0148 | 38 | c.730 others(53): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 138 | 0.0072 | 38 | c.730 others(53): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0018 | a0002c0018t0009 | a0002c0018t0009g0233 | 1 | 138 | 0.0072 | 38 | c.730 others(53): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18990.hp1 |
a0002a0003 | a0002c0002a0003c0007 | a0002c0002t0001a0003c0007t0001 | a0002c0002t0001g0082 a0003c0007t0001g0044 |
2 | 139 | 0.0144 | 38 | c.730 others(53): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(31): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0023 | a0023c0026 | a0023c0026t0001 | a0023c0026t0001g0046 | 1 | 121 | 0.0083 | 38 | c.231 others(57): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(31): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18990.hp2 NA19066.hp1 others(1): Show |
a0008a0035a0048 | a0008c0006a0008c0049a0035c0075others(1): Show | a0008c0006t0001a0008c0049t0002a0035c0075t0008others(1): Show | a0008c0006t0001g0034 a0008c0049t0002g0057 a0035c0075t0008g0217 others(1): Show |
4 | 124 | 0.0323 | 38 | c.231 others(57): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(31): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03579.hp2 |
a0014a0029 | a0014c0020a0029c0068 | a0014c0020t0002a0029c0068t0003 | a0014c0020t0002g0174 a0029c0068t0003g0169 |
2 | 122 | 0.0164 | 38 | c.231 others(57): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019373 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 105 | 0.0095 | 38 | c.421 others(55): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019375 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 91 | 0.0110 | 38 | c.421 others(55): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar |