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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM132C_chr12_128262170_128712911 | 128483309 | T | TGAGGGGA others(99): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03540.hp2 |
a0004a0005 | a0004c0007a0005c0032 | a0004c0007t0002a0005c0032t0002 | a0004c0007t0002g0096 a0005c0032t0002g0050 |
2 | 170 | 0.0118 | 106 | c.975 others(125): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129190344 | G | GCCTGCAG others(99): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0008 | a0001c0001t0002g0033 a0002c0003t0008g0090 |
2 | 94 | 0.0213 | 106 | c.144 others(127): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
TMEM185A_chrX_149591556_149636792 | 149605273 | A | AGCCTCCC others(99): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0170 | 1 | 259 | 0.0039 | 106 | c.424 others(123): Show |
TMEM185A | ENSG00000269556.9 | transcript | ENST00000600449.8 | protein_coding | 3/6 | chrX | TogoVar | |||||||
TMEM185A_chrX_149591556_149636792 | 149605365 | A | ATGTCACT others(99): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0152 | 1 | 259 | 0.0039 | 106 | c.424 others(123): Show |
TMEM185A | ENSG00000269556.9 | transcript | ENST00000600449.8 | protein_coding | 3/6 | chrX | TogoVar | |||||||
TMEM185A_chrX_149591556_149636792 | 149605379 | A | AGCCTCCC others(99): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0063 | 1 | 259 | 0.0039 | 106 | c.424 others(123): Show |
TMEM185A | ENSG00000269556.9 | transcript | ENST00000600449.8 | protein_coding | 3/6 | chrX | TogoVar | |||||||
TMEM18_chr2_658877_682406 | 671353 | C | CCCTCCTG others(99): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0062 | 1 | 442 | 0.0023 | 106 | c.233 others(123): Show |
TMEM18 | ENSG00000151353.15 | transcript | ENST00000281017.8 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
TMEM18_chr2_658877_682406 | 671353 | C | CCCTCCTG others(99): Show |
intron_variant | MODIFIER | HG00558.hp2 HG03688.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0022 |
3 | 442 | 0.0068 | 106 | c.233 others(123): Show |
TMEM18 | ENSG00000151353.15 | transcript | ENST00000281017.8 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
TMEM18_chr2_658877_682406 | 671613 | C | CAGGGTCC others(99): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 442 | 0.0023 | 106 | c.233 others(123): Show |
TMEM18 | ENSG00000151353.15 | transcript | ENST00000281017.8 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
TMEM18_chr2_658877_682406 | 671858 | C | CCTGCATC others(99): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(108): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0114 others(21): Show |
111 | 442 | 0.2511 | 106 | c.233 others(121): Show |
TMEM18 | ENSG00000151353.15 | transcript | ENST00000281017.8 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
TMEM18_chr2_658877_682406 | 671858 | C | CCTGCATC others(99): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0121 | 1 | 442 | 0.0023 | 106 | c.233 others(121): Show |
TMEM18 | ENSG00000151353.15 | transcript | ENST00000281017.8 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113815271 | G | GTGGGGTC others(99): Show |
3_prime_UTR_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0023 | a0001c0023t0147 | a0001c0023t0147g0200 | 1 | 260 | 0.0039 | 106 | c.*34 others(117): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 3421 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM255B_chr13_113754226_113821995 | 113815370 | C | CGTCCACA others(99): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0028 | a0006c0028t0079 | a0006c0028t0079g0036 | 1 | 260 | 0.0039 | 106 | c.*35 others(117): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 3515 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM52_chr1_1912591_1924279 | 1924223 | G | GACCACCC others(99): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | 106 | c.-49 others(117): Show |
TMEM52 | ENSG00000178821.13 | transcript | ENST00000310991.8 | protein_coding | 4945 | chr1 | TogoVar | |||||||
TMEM63C_chr14_77176798_77264495 | 77235997 | C | CTGGGGAG others(99): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285 | 1 | 322 | 0.0031 | 106 | c.543 others(121): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TMEM67_chr8_93749894_93823121 | 93808464 | T | TATCTATT others(99): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18972.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0009 | a0002c0002t0001g0129 a0002c0002t0009g0124 |
2 | 318 | 0.0063 | 106 | c.244 others(123): Show |
TMEM67 | ENSG00000164953.17 | transcript | ENST00000453321.8 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNK2_chr3_195858364_195913551 | 195880409 | A | ACCCCCCC others(99): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 | 1 | 372 | 0.0027 | 106 | c.888 others(123): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881128 | C | CCCGCCCC others(99): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0041 | 1 | 372 | 0.0027 | 106 | c.887 others(121): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1942138 | T | TGGGAGGG others(99): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 125 | 0.0080 | 106 | c.*36 others(117): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 3437 | chr11 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1942146 | A | AGGGGGGA others(99): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 125 | 0.0080 | 106 | c.*36 others(117): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 3445 | chr11 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1942153 | A | AGGAAGGT others(99): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 125 | 0.0080 | 106 | c.*36 others(117): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 3452 | chr11 | TogoVar | |||||||
TOM1_chr22_35294894_35352973 | 35343122 | C | CAACACAC others(99): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 358 | 0.0028 | 106 | c.122 others(125): Show |
TOM1 | ENSG00000100284.22 | transcript | ENST00000449058.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TOX2_chr20_43909852_44074616 | 43927694 | C | CCTTCCCC others(99): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 288 | 0.0035 | 106 | c.99+ others(123): Show |
TOX2 | ENSG00000124191.18 | transcript | ENST00000341197.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930619 | C | CTGGGGTT others(99): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG02683.hp2 |
a0005 | a0005c0005 | a0005c0005t0010a0005c0005t0013 | a0005c0005t0010g0155 a0005c0005t0013g0150 |
2 | 466 | 0.0043 | 106 | c.*49 others(117): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4750 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930742 | G | GGGGTTAG others(99): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 466 | 0.0043 | 106 | c.*48 others(117): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4627 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGTTAGG others(99): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0023 | 1 | 466 | 0.0022 | 106 | c.*47 others(117): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3694672 | G | GCAATCCC others(99): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01884.hp1 HG02027.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0011 | a0001c0001t0002g0090 a0001c0001t0002g0127 a0001c0001t0002g0285 others(1): Show |
4 | 358 | 0.0112 | 106 | c.186 others(125): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189312136 | T | TCTTTCTC others(99): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0210 | 1 | 288 | 0.0035 | 106 | c.633 others(123): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPR_chr1_186306652_186380253 | 186327192 | T | TAAATATA others(99): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 408 | 0.0025 | 106 | c.588 others(123): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 40/50 | chr1 | TogoVar | |||||||
TPR_chr1_186306652_186380253 | 186327192 | T | TAAATATA others(99): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0145 | 1 | 408 | 0.0025 | 106 | c.588 others(123): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 40/50 | chr1 | TogoVar | |||||||
TRAF3IP1_chr2_238315518_238405897 | 238398125 | G | GGGTAGCA others(99): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0049 | 1 | 338 | 0.0030 | 106 | c.191 others(123): Show |
TRAF3IP1 | ENSG00000204104.12 | transcript | ENST00000373327.5 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAF3IP1_chr2_238315518_238405897 | 238398125 | G | GGGTAGCA others(99): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0014 | 1 | 338 | 0.0030 | 106 | c.191 others(123): Show |
TRAF3IP1 | ENSG00000204104.12 | transcript | ENST00000373327.5 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAF3IP1_chr2_238315518_238405897 | 238398125 | G | GGGTAGCA others(99): Show |
intron_variant | MODIFIER | HG01952.hp2 NA19012.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0023 a0003c0004t0002g0054 |
2 | 338 | 0.0059 | 106 | c.191 others(123): Show |
TRAF3IP1 | ENSG00000204104.12 | transcript | ENST00000373327.5 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRIM13_chr13_49992042_50023467 | 49996988 | C | CGGGAGGG others(99): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0252 | a0001c0001t0252g0152 | 1 | 390 | 0.0026 | 106 | c.-78 others(115): Show |
TRIM13 | ENSG00000204977.10 | transcript | ENST00000378182.4 | protein_coding | 53 | chr13 | TogoVar | |||||||
TRPC1_chr3_142719034_142812888 | 142784320 | T | TTAATACT others(99): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02647.hp1 |
a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0024 a0001c0008t0009g0025 |
2 | 340 | 0.0059 | 106 | c.961 others(121): Show |
TRPC1 | ENSG00000144935.17 | transcript | ENST00000476941.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TRPM7_chr15_50552158_50691797 | 50679477 | T | TATATATA others(99): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0054 | a0001c0004t0054g0272 | 1 | 352 | 0.0028 | 106 | c.3+7 others(119): Show |
TRPM7 | ENSG00000092439.16 | transcript | ENST00000646667.1 | protein_coding | 1/38 | chr15 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292475 | T | TCCCCCAT others(99): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 284 | 0.0035 | 106 | c.121 others(121): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10764848 | T | TCAGTCTG others(99): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0272 | 1 | 410 | 0.0024 | 106 | c.*42 others(117): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1826 | chr16 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870151 | C | CCACACAC others(99): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 338 | 0.0030 | 106 | c.*35 others(125): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870743 | A | ACCCCACA others(99): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 a0001c0001t0002g0307 |
2 | 338 | 0.0059 | 106 | c.*35 others(125): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370180 | C | CGTGTGTG others(99): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG02922.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0014 a0002c0002t0010g0371 |
4 | 468 | 0.0086 | 106 | c.-6- others(121): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370411 | G | GTGTGTGT others(99): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01943.hp1 HG01978.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0121 a0002c0002t0003g0130 a0002c0002t0003g0132 others(7): Show |
10 | 468 | 0.0214 | 106 | c.-6- others(121): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370416 | T | TATATGCG others(99): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0205 | 1 | 468 | 0.0021 | 106 | c.-6- others(121): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370449 | G | GTGTGTAT others(99): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0268 | 1 | 468 | 0.0021 | 106 | c.-6- others(121): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370527 | G | GTGTGTAT others(99): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01952.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0017 a0002c0002t0003g0140 a0002c0002t0003g0150 others(2): Show |
6 | 468 | 0.0128 | 106 | c.-6- others(121): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(99): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0272 | 1 | 344 | 0.0029 | 106 | c.218 others(123): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917306 | G | GTTCGGCT others(99): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0026 | 1 | 344 | 0.0029 | 106 | c.218 others(123): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109106909 | A | ATATATAT others(99): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 452 | 0.0022 | 106 | c.802 others(123): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USH2A_chr1_215617891_216428448 | 216050568 | C | CTTTCCTT others(99): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0031 | a0031c0040 | a0031c0040t0001 | a0031c0040t0001g0034 | 1 | 74 | 0.0135 | 106 | c.605 others(125): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 30/71 | chr1 | TogoVar | |||||||
USP20_chr9_129830458_129886828 | 129859254 | C | CTTTTATT others(99): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0004 | a0001c0001t0001g0242 a0002c0007t0004g0049 a0002c0007t0004g0241 others(1): Show |
4 | 352 | 0.0114 | 106 | c.330 others(121): Show |
USP20 | ENSG00000136878.14 | transcript | ENST00000372429.8 | protein_coding | 6/25 | chr9 | TogoVar | |||||||
USP25_chr21_15724982_15885064 | 15762129 | T | TAAAAAAG others(99): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03239.hp1 HG03654.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 others(1): Show |
4 | 200 | 0.0200 | 106 | c.46- others(119): Show |
USP25 | ENSG00000155313.16 | transcript | ENST00000400183.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |