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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(89): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0019 | a0002c0019t0012 | a0002c0019t0012g0125 | 1 | 66 | 0.0152 | 96 | c.-25 others(107): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728231 | C | CTCTCTCT others(89): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0013 | a0001c0013t0008 | a0001c0013t0008g0229 | 1 | 93 | 0.0108 | 96 | c.204 others(115): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 649886 | G | GTGACTGA others(89): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 82 | 0.0122 | 96 | c.177 others(115): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CFAP276_chr1_109100951_109117747 | 109113390 | C | CAGAGAGA others(89): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 393 | 0.0025 | 96 | c.-71 others(105): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 644 | chr1 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80390505 | A | ATATACAC others(89): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 63 | 0.0159 | 96 | c.242 others(115): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80390505 | A | ATATACAC others(89): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 63 | 0.0159 | 96 | c.242 others(115): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP53_chr18_50222193_50271495 | 50241560 | G | GGTCTGAG others(89): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0286 | 1 | 400 | 0.0025 | 96 | c.121 others(115): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 6/7 | chr18 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337290 | A | ATGGATGG others(89): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(61): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0040 a0001c0001t0001g0177 a0001c0001t0001g0203 others(61): Show |
64 | 195 | 0.3282 | 96 | c.342 others(115): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126861759 | T | TACCATCA others(89): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 213 | 0.0047 | 96 | c.495 others(113): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126862138 | T | TCCACCAT others(89): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02145.hp1 HG03669.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 others(1): Show |
4 | 196 | 0.0204 | 96 | c.495 others(113): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126864851 | C | CCTCCTCC others(89): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 214 | 0.0047 | 96 | c.495 others(115): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6106928 | G | GTGGAGGG others(89): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02886.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0083a0001c0009t0013a0001c0010t0013others(1): Show | a0001c0001t0083g0308 a0001c0009t0013g0062 a0001c0010t0013g0243 others(1): Show |
4 | 318 | 0.0126 | 96 | c.557 others(113): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 38/41 | chr1 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867851 | T | TATATATA others(89): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 NA18955.hp1 NA18956.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0193 a0001c0001t0003g0231 a0001c0001t0003g0234 others(1): Show |
4 | 294 | 0.0136 | 96 | c.-14 others(107): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 800 | chr7 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867853 | T | TATATATA others(89): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0195 others(25): Show |
29 | 148 | 0.1959 | 96 | c.-14 others(107): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 798 | chr7 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136867855 | T | TATATATA others(89): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 281 | 0.0036 | 96 | c.-14 others(107): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 796 | chr7 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697754 | A | ATATATAT others(89): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02074.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0002g0005 a0001c0001t0002g0058 others(1): Show |
6 | 198 | 0.0303 | 96 | c.-28 others(107): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2795 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697765 | C | CATATATA others(89): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 346 | 0.0029 | 96 | c.-28 others(107): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2784 | chr8 | TogoVar | |||||||
CLCN6_chr1_11801191_11848130 | 11829529 | T | TGAACAAC others(89): Show |
intron_variant | MODIFIER | HG02723.hp2 NA19030.hp2 |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0020a0007c0015t0001 | a0001c0001t0020g0162 a0007c0015t0001g0159 |
2 | 239 | 0.0084 | 96 | c.124 others(113): Show |
CLCN6 | ENSG00000011021.23 | transcript | ENST00000346436.11 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122390282 | A | ATATATAT others(89): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0032 | 1 | 229 | 0.0044 | 96 | c.-10 others(115): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTTCTT others(89): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0043 | 1 | 15 | 0.0667 | 96 | c.602 others(113): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627030 | A | AGAAAGAA others(89): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 122 | 0.0082 | 96 | c.424 others(109): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627030 | A | AGAAAGAA others(89): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 122 | 0.0082 | 96 | c.424 others(109): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87156273 | G | GTGTGTGT others(89): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 59 | 0.0169 | 96 | c.432 others(115): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899854 | A | AGAAAGAA others(89): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0118 | 1 | 248 | 0.0040 | 96 | c.-46 others(115): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41901287 | C | CTCCCAGA others(89): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0031 | a0001c0001t0002g0018 a0001c0001t0017g0012 a0001c0001t0031g0098 |
3 | 106 | 0.0283 | 96 | c.344 others(115): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 21/23 | chr9 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45431508 | C | CGGCCCAG others(89): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0071 | a0001c0071t0004 | a0001c0071t0004g0168 | 1 | 289 | 0.0035 | 96 | c.106 others(115): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45442757 | C | CGGTGGTG others(89): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(54): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(18): Show | a0001c0001t0001g0021 a0001c0001t0001g0107 a0001c0001t0001g0136 others(54): Show |
57 | 290 | 0.1966 | 96 | c.107 others(115): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | chr21 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69921481 | T | TATTCATA others(89): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0029 | 1 | 42 | 0.0238 | 96 | c.267 others(113): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63306165 | A | AGGAAGTT others(89): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 283 | 0.0035 | 96 | c.496 others(111): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101417602 | G | GTATATCT others(89): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02258.hp1 HG02809.hp1 |
a0001a0002 | a0001c0005a0001c0014a0002c0003 | a0001c0005t0012a0001c0014t0009a0002c0003t0001 | a0001c0005t0012g0160 a0001c0014t0009g0089 a0002c0003t0001g0127 |
3 | 149 | 0.0201 | 96 | c.159 others(113): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101417610 | A | ATATATCT others(89): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19240.hp2 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0002a0002c0004t0001 | a0001c0005t0002g0164 a0002c0004t0001g0149 |
2 | 39 | 0.0513 | 96 | c.159 others(113): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101417628 | A | ATAGAGAT others(89): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18906.hp1 |
a0001a0003 | a0001c0001a0003c0017 | a0001c0001t0011a0003c0017t0006 | a0001c0001t0011g0130 a0003c0017t0006g0005 |
2 | 171 | 0.0117 | 96 | c.159 others(113): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47971855 | T | TTATATTG others(89): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0014 | 2 | 246 | 0.0081 | 96 | c.*15 others(107): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 1111 | chr12 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219856 | G | GTATATAT others(89): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG00738.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(26): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(28): Show | a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0064 others(46): Show |
49 | 262 | 0.1870 | 96 | c.145 others(113): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219856 | G | GTATATAT others(89): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03239.hp2 NA18612.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0020a0002c0002others(9): Show | a0001c0001t0001a0001c0020t0001a0002c0002t0001others(10): Show | a0001c0001t0001g0123 a0001c0020t0001g0115 a0002c0002t0001g0246 others(10): Show |
13 | 226 | 0.0575 | 96 | c.145 others(113): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219856 | G | GTATATAT others(89): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0285 | 1 | 214 | 0.0047 | 96 | c.145 others(113): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAAGAAGG others(89): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0090 | 1 | 273 | 0.0037 | 96 | c.85- others(113): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(89): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0023 | a0002c0023t0003 | a0002c0023t0003g0237 | 1 | 273 | 0.0037 | 96 | c.85- others(113): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255792 | G | GAAGGCAG others(89): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0085 | a0002c0085t0001 | a0002c0085t0001g0243 | 1 | 322 | 0.0031 | 96 | c.85- others(113): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255826 | A | AAGGGGGA others(89): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0189 | 1 | 294 | 0.0034 | 96 | c.85- others(113): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110355517 | T | TGGGGGAG others(89): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0004 | a0004c0089 | a0004c0089t0005 | a0004c0089t0005g0187 | 1 | 348 | 0.0029 | 96 | c.100 others(113): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355735 | C | CTGTGTGT others(89): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0090 | 1 | 351 | 0.0028 | 96 | c.100 others(113): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385435 | C | CTGGATAG others(89): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0066 | 1 | 162 | 0.0062 | 96 | c.180 others(115): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385469 | C | CGTGGTTA others(89): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(103): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(71): Show | a0001c0001t0001g0195 a0001c0001t0001g0232 a0001c0001t0003g0063 others(103): Show |
106 | 341 | 0.3109 | 96 | c.180 others(115): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385469 | C | CGTGGTTA others(89): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 |
a0002a0004 | a0002c0006a0004c0012 | a0002c0006t0003a0004c0012t0001 | a0002c0006t0003g0084 a0004c0012t0001g0199 |
2 | 237 | 0.0084 | 96 | c.180 others(115): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385469 | C | CGTGGTTA others(89): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG01257.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0022a0001c0037others(19): Show | a0001c0001t0003a0001c0022t0019a0001c0037t0020others(23): Show | a0001c0001t0003g0124 a0001c0022t0019g0130 a0001c0037t0020g0069 others(24): Show |
27 | 262 | 0.1031 | 96 | c.180 others(115): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385530 | C | CGTGGATA others(89): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0284 | 1 | 196 | 0.0051 | 96 | c.180 others(115): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385674 | T | TGTGGATA others(89): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18982.hp2 |
a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0143 a0002c0006t0006g0144 |
2 | 368 | 0.0054 | 96 | c.180 others(115): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385707 | G | GCCGTGGT others(89): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(52): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0023others(41): Show | a0001c0001t0004g0348 a0001c0001t0005g0154 a0001c0001t0023g0329 others(52): Show |
55 | 356 | 0.1545 | 96 | c.180 others(115): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385786 | T | TTGCAGTG others(89): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0094 | a0003c0094t0025 | a0003c0094t0025g0175 | 1 | 190 | 0.0053 | 96 | c.180 others(115): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |