| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GALNT9_chr12_132191372_132334589 | 132290743 | ACAGCACC others(503): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(51): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0042others(51): Show | 54 | 183 | 0.2951 | -510 | c.239 others(17): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| KNDC1_chr10_133155219_133231412 | 133222716 | TGTGTGTG others(503): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0211 | 1 | 332 | 0.0030 | -510 | c.501 others(19): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(503): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 350 | 0.0029 | -510 | c.*26 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| LUZP1_chr1_23079030_23173856 | 23111224 | ACTGATAA others(503): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0318 | 1 | 322 | 0.0031 | -510 | c.-22 others(19): Show |
LUZP1 | ENSG00000169641.15 | transcript | ENST00000302291.9 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 746010 | CCGGGGGT others(503): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01496.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003a0002c0002t0053 | a0001c0001t0003g0065a0002c0002t0003g0060a0002c0002t0003g0061others(5): Show | 8 | 366 | 0.0219 | -510 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746123 | CCCGGGGG others(503): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0023a0001c0001t0028g0024 | 2 | 366 | 0.0055 | -510 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 164851 | CAGGGGGC others(503): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 |
a0040a0041 | a0040c0063a0041c0064 | a0040c0063t0063a0041c0064t0010 | a0040c0063t0063g0189a0041c0064t0010g0190 | 2 | 210 | 0.0095 | -510 | c.347 others(19): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | chr5 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66799058 | GTGGTGGT others(503): Show |
G | intron_variant | MODIFIER | HG02056.hp2 NA18999.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0067 | a0001c0002t0003g0031a0001c0002t0067g0093 | 2 | 178 | 0.0112 | -510 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RNF223_chr1_1065967_1079306 | 1078715 | AGGCTGAG others(503): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02818.hp2 others(8): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0005a0002c0002t0012a0002c0002t0019others(1): Show | a0002c0002t0005g0008a0002c0002t0005g0046a0002c0002t0012g0018others(2): Show | 11 | 324 | 0.0340 | -510 | c.-52 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4410 | chr1 | TogoVar | ||||||
| ST3GAL3_chr1_43702536_43936159 | 43905475 | TGTTCCCC others(503): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115a0001c0001t0002g0116a0001c0001t0002g0117 | 3 | 274 | 0.0110 | -510 | c.744 others(17): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
| THBS3_chr1_155190588_155212897 | 155190613 | CCGGCCTG others(503): Show |
C | downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 298 | 0.0034 | -510 | c.*47 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4974 | chr1 | TogoVar | ||||||
| TNK2_chr3_195858364_195913551 | 195880568 | GCCCCCCA others(503): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 372 | 0.0027 | -510 | c.887 others(16): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | ||||||
| WRAP73_chr1_3625770_3655103 | 3643863 | CGGCCCCG others(503): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(31): Show | 77 | 382 | 0.2016 | -510 | c.339 others(17): Show |
WRAP73 | ENSG00000116213.16 | transcript | ENST00000270708.12 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1163746 | GGGACCCT others(502): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0014a0001c0001t0031others(2): Show | a0001c0001t0008g0019a0001c0001t0014g0243a0001c0001t0031g0240others(2): Show | 5 | 337 | 0.0148 | -509 | c.61+ others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133136166 | GTAGGGGT others(502): Show |
G | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0011 | a0011c0011 | a0011c0011t0005 | a0011c0011t0005g0252 | 1 | 368 | 0.0027 | -509 | c.*66 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 4492 | chr10 | TogoVar | ||||||
| ALOXE3_chr17_8090900_8123514 | 8093455 | GGGTCAAA others(502): Show |
G | downstream_gene_variant | MODIFIER | HG02723.hp1 HG03471.hp1 HG03540.hp2 |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0002a0007c0014t0002 | a0001c0001t0002g0025a0001c0001t0002g0350a0007c0014t0002g0272 | 3 | 422 | 0.0071 | -509 | c.*26 others(11): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 2444 | chr17 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105236336 | GAGGCCAC others(502): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0070 | 1 | 72 | 0.0139 | -509 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105236414 | AACAACCT others(502): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071 | 1 | 72 | 0.0139 | -509 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
| EIF3B_chr7_2349827_2385745 | 2377490 | GCTCCTGG others(502): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01175.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018a0002c0002t0001g0188a0002c0002t0001g0259others(8): Show | 12 | 384 | 0.0313 | -509 | c.215 others(17): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EIF3B_chr7_2349827_2385745 | 2377509 | GTGTGAAT others(502): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0339a0001c0001t0001g0340others(1): Show | 6 | 384 | 0.0156 | -509 | c.215 others(17): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PACS1_chr11_66065272_66249744 | 66205245 | AAAGTGCT others(502): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0306 | 2 | 322 | 0.0062 | -509 | c.445 others(17): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| THBS3_chr1_155190588_155212897 | 155190771 | GGGGGGGC others(502): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02976.hp1 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0003t0001g0021a0002c0002t0001g0003 | 4 | 298 | 0.0134 | -509 | c.*45 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4816 | chr1 | TogoVar | ||||||
| ADAMTS2_chr5_179105853_179350461 | 179313387 | CCGAGACA others(501): Show |
C | intron_variant | MODIFIER | HG02165.hp2 | a0007 | a0007c0005 | a0007c0005t0003 | a0007c0005t0003g0273 | 1 | 276 | 0.0036 | -508 | c.534 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127635 | AGGCTGGA others(501): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02965.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0299a0002c0002t0003g0302a0002c0002t0003g0303 | 3 | 326 | 0.0092 | -508 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127701 | AATCTCGG others(501): Show |
A | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188 | 1 | 326 | 0.0031 | -508 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| CAMK1D_chr10_12344547_12840545 | 12693968 | TATATAAT others(501): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02040.hp2 HG03486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0001t0018others(5): Show | a0001c0001t0002g0139a0001c0001t0011g0009a0001c0001t0018g0013others(5): Show | 8 | 214 | 0.0374 | -508 | c.299 others(19): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| FBLN7_chr2_112133385_112193218 | 112139421 | GGCCAGTG others(501): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0028 | 2 | 346 | 0.0058 | -508 | c.75+ others(14): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 952939 | AACCAGCC others(501): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 294 | 0.0034 | -508 | c.503 others(16): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 953477 | CCACCCCA others(501): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG03491.hp2 HG03654.hp2 others(5): Show |
a0001a0020a0023 | a0001c0001a0001c0003a0020c0059others(1): Show | a0001c0001t0001a0001c0001t0017a0001c0003t0001others(2): Show | a0001c0001t0001g0134a0001c0001t0001g0161a0001c0001t0001g0163others(5): Show | 8 | 294 | 0.0272 | -508 | c.503 others(15): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LRP2_chr2_169122109_169367534 | 169326874 | TCTGGGAT others(501): Show |
T | intron_variant | MODIFIER | NA18979.hp2 NA18982.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0045a0001c0005t0002g0058 | 2 | 250 | 0.0080 | -508 | c.80- others(15): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 1/78 | chr2 | TogoVar | ||||||
| MAN1C1_chr1_25611791_25789450 | 25767759 | CTCACATA others(501): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0154 | 1 | 250 | 0.0040 | -508 | c.114 others(19): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MVB12B_chr9_126321829_126512040 | 126484856 | TTCCACTG others(501): Show |
T | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 318 | 0.0031 | -508 | c.873 others(16): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RNF223_chr1_1065967_1079306 | 1076227 | TGGCTGAG others(501): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01243.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0013others(1): Show | 13 | 324 | 0.0401 | -508 | c.-27 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 1922 | chr1 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133668716 | CACCCTCC others(501): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 262 | 0.0038 | -508 | c.249 others(19): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1289062 | TCTGCTCC others(501): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0012 | a0012c0022 | a0012c0022t0006 | a0012c0022t0006g0132 | 1 | 290 | 0.0035 | -508 | c.166 others(18): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SVEP1_chr9_110360248_110584741 | 110434549 | GTGGTAGC others(501): Show |
G | intron_variant | MODIFIER | NA19088.hp2 | a0022 | a0022c0018 | a0022c0018t0003 | a0022c0018t0003g0153 | 1 | 362 | 0.0028 | -508 | c.488 others(16): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 29/47 | chr9 | TogoVar | ||||||
| THBS3_chr1_155190588_155212897 | 155190651 | GCGGGCGC others(501): Show |
G | downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 298 | 0.0034 | -508 | c.*46 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4936 | chr1 | TogoVar | ||||||
| THBS3_chr1_155190588_155212897 | 155190711 | GGGGGGGC others(501): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 HG03098.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0017 | 3 | 298 | 0.0101 | -508 | c.*46 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4876 | chr1 | TogoVar | ||||||
| THBS3_chr1_155190588_155212897 | 155190772 | GGGGGGCG others(501): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0005a0001c0003t0001g0021 | 3 | 298 | 0.0101 | -508 | c.*45 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4815 | chr1 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291236 | GCCCTCCG others(501): Show |
G | intron_variant | MODIFIER | HG02886.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0176a0002c0003t0002g0088 | 2 | 284 | 0.0070 | -508 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| CDK13_chr7_39945256_40104580 | 40048595 | AAAGAATT others(500): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02922.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0248a0001c0004t0004g0249a0001c0004t0004g0250others(3): Show | 6 | 322 | 0.0186 | -507 | c.260 others(18): Show |
CDK13 | ENSG00000065883.18 | transcript | ENST00000181839.10 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LRCH3_chr3_197786254_197893436 | 197824304 | CCACCCGC others(500): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01978.hp1 HG02273.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0010g0012others(14): Show | 17 | 292 | 0.0582 | -507 | c.641 others(17): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SH3TC2_chr5_148977150_149068062 | 149045463 | CACATTCT others(500): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0031a0002c0003t0120 | a0002c0003t0031g0246a0002c0003t0120g0247 | 2 | 326 | 0.0061 | -507 | c.280 others(16): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238706 | CCCTGCAT others(499): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0007 | a0001c0007t0033 | a0001c0007t0033g0041 | 1 | 106 | 0.0094 | -506 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 391841 | TGAGGCAG others(499): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 268 | 0.0037 | -506 | c.351 others(19): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53920561 | GTTGTCCC others(499): Show |
G | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 364 | 0.0028 | -506 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61273008 | TATTGGGG others(499): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0028 | 1 | 106 | 0.0094 | -506 | c.169 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| EXD3_chr9_137301896_137428162 | 137341658 | GGGAGTCA others(499): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02896.hp1 |
a0002a0008a0018 | a0002c0002a0008c0020a0018c0022 | a0002c0002t0001a0008c0020t0001a0018c0022t0001 | a0002c0002t0001g0036a0008c0020t0001g0005a0018c0022t0001g0038 | 3 | 82 | 0.0366 | -506 | c.199 others(19): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346348 | GGACCCAG others(499): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02895.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0281a0002c0002t0001g0283a0002c0002t0002g0282 | 3 | 288 | 0.0104 | -506 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 949715 | ACGACAGA others(499): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0027 | a0005c0027t0001 | a0005c0027t0001g0127 | 1 | 294 | 0.0034 | -506 | c.503 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar |