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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYN3_chr22_32502820_33063381 | 32931818 | C | CCAGATGC others(301): Show |
intron_variant | MODIFIER | HG03688.hp2 HG03942.hp2 HG04199.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0022a0002c0002t0050 | a0001c0001t0008g0133 a0002c0002t0022g0009 a0002c0002t0050g0025 |
3 | 92 | 0.0326 | 308 | c.370 others(323): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620601 | A | ACCCATCC others(301): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0090 a0001c0001t0010g0243 |
2 | 118 | 0.0169 | 308 | c.113 others(327): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46859963 | T | TGTGCCCC others(301): Show |
intron_variant | MODIFIER | HG01361.hp1 HG04199.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0061 a0001c0001t0003g0081 a0001c0001t0004g0022 |
3 | 51 | 0.0588 | 308 | c.638 others(327): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46860148 | C | CATAGAGG others(301): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0005 a0001c0001t0009g0004 |
2 | 83 | 0.0241 | 308 | c.638 others(327): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46860148 | C | CATAGAGG others(301): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0057 a0001c0001t0001g0074 others(6): Show |
9 | 90 | 0.1000 | 308 | c.638 others(327): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46860148 | C | CATAGAGG others(301): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0018 a0001c0001t0010g0023 |
2 | 83 | 0.0241 | 308 | c.638 others(327): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47020505 | T | TAAAACAA others(301): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 103 | 0.0097 | 308 | c.120 others(329): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(301): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 34 | 0.0294 | 308 | c.142 others(327): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47170909 | G | GCAGTCCT others(301): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02886.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0085 a0001c0001t0005g0107 a0001c0001t0005g0110 others(3): Show |
6 | 33 | 0.1818 | 308 | c.142 others(327): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412135 | C | CATCCCTT others(301): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0185 | 1 | 245 | 0.0041 | 308 | c.186 others(325): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235412166 | C | CCCTCCCC others(301): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 165 | 0.0061 | 308 | c.186 others(325): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412182 | C | CCCCATCC others(301): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 160 | 0.0063 | 308 | c.186 others(325): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412182 | C | CCCCATCC others(301): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 160 | 0.0063 | 308 | c.186 others(325): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412182 | C | CCCCATCC others(301): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 160 | 0.0063 | 308 | c.186 others(325): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412182 | C | CCCCATCC others(301): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 160 | 0.0063 | 308 | c.186 others(325): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TCF12_chr15_56913644_57294853 | 57075835 | T | TTTTCTTT others(301): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0014 | 1 | 137 | 0.0073 | 308 | c.222 others(327): Show |
TCF12 | ENSG00000140262.18 | transcript | ENST00000333725.10 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89884721 | G | GCCCCTCT others(301): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02280.hp2 HG02615.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(8): Show |
11 | 275 | 0.0400 | 308 | c.429 others(321): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89884721 | G | GCCCCTCT others(301): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0012 |
2 | 266 | 0.0075 | 308 | c.429 others(321): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628374 | G | GGGGACAG others(301): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0320 | 1 | 326 | 0.0031 | 308 | c.299 others(323): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629080 | G | GGTGGGAA others(301): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01255.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0011 | a0001c0004t0003g0105 a0001c0004t0003g0106 a0001c0004t0011g0145 |
3 | 339 | 0.0088 | 308 | c.299 others(325): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCN2_chr22_30602174_30632271 | 30623921 | T | TGTATACA others(301): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0204 | 1 | 359 | 0.0028 | 308 | c.122 others(325): Show |
TCN2 | ENSG00000185339.10 | transcript | ENST00000215838.8 | protein_coding | 8/8 | chr22 | TogoVar | |||||||
TCN2_chr22_30602174_30632271 | 30623921 | T | TGTATACA others(301): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0217 | 1 | 359 | 0.0028 | 308 | c.122 others(325): Show |
TCN2 | ENSG00000185339.10 | transcript | ENST00000215838.8 | protein_coding | 8/8 | chr22 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGCCATC others(301): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18955.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0208 a0001c0006t0001g0212 |
2 | 99 | 0.0202 | 308 | c.228 others(327): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169236149 | C | CCCATCCA others(301): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0222 | 1 | 347 | 0.0029 | 308 | c.147 others(327): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 9/21 | chr6 | TogoVar | |||||||
THSD4_chr15_71110471_71788383 | 71199699 | G | GTGGTGCA others(301): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01167.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(17): Show | a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0004g0101 others(18): Show |
21 | 113 | 0.1858 | 308 | c.100 others(327): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 3/17 | chr15 | TogoVar | |||||||
THSD7B_chr2_136760545_137682718 | 137303660 | G | GTTTATAT others(301): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 87 | 0.0115 | 308 | c.250 others(329): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TINCR_chr19_5553167_5572953 | 5571958 | T | TAACAAGC others(301): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0003 | a0003c0004 | a0003c0004t0014 | a0003c0004t0014g0075 | 1 | 395 | 0.0025 | 308 | c.-40 others(319): Show |
TINCR | ENSG00000223573.7 | transcript | ENST00000448587.6 | protein_coding | 4006 | chr19 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747573 | A | ACTGGGGT others(301): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0064 | 1 | 244 | 0.0041 | 308 | c.189 others(323): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747958 | C | CTGGGGTA others(301): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 303 | 0.0033 | 308 | c.189 others(323): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2383642 | A | AAGAAATT others(301): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0013others(11): Show | a0001c0001t0001a0001c0004t0002a0001c0013t0001others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0038 others(42): Show |
45 | 100 | 0.4500 | 308 | c.-25 others(325): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2383642 | A | AAGAAATT others(301): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0044 | 1 | 56 | 0.0179 | 308 | c.-25 others(325): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMTC2_chr12_82681906_83139866 | 82901205 | T | TATATATA others(301): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 90 | 0.0111 | 308 | c.148 others(327): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1287479 | C | CCCTCCCC others(301): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0010 | 1 | 210 | 0.0048 | 308 | c.519 others(325): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1287507 | G | GCCTCCCC others(301): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0193 | 1 | 261 | 0.0038 | 308 | c.519 others(325): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1287535 | G | GCCTCCCC others(301): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 | 1 | 272 | 0.0037 | 308 | c.519 others(325): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TOPAZ1_chr3_44236886_44337098 | 44298800 | G | GAAAAAAT others(301): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 148 | 0.0068 | 308 | c.379 others(327): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930701 | T | TAGGGAGA others(301): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0068 a0001c0001t0007g0030 |
2 | 447 | 0.0045 | 308 | c.*48 others(319): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4668 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGGTTAG others(301): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 371 | 0.0027 | 308 | c.*47 others(319): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
TPCN2_chr11_69043932_69095597 | 69077105 | T | TTGCCCTC others(301): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0278 | 1 | 24 | 0.0417 | 308 | c.123 others(327): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507587 | G | GTGTATAC others(301): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 212 | 0.0047 | 308 | c.-23 others(325): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRIM49D1_chr11_89906409_89927245 | 89909183 | T | TAAATATT others(301): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0005 | 1 | 200 | 0.0050 | 308 | c.*24 others(319): Show |
TRIM49D1 | ENSG00000223417.9 | transcript | ENST00000420869.3 | protein_coding | 2225 | chr11 | TogoVar | |||||||
TSEN15_chr1_184046730_184079212 | 184055981 | A | AAAAATCT others(301): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0136 | 1 | 420 | 0.0024 | 308 | c.353 others(325): Show |
TSEN15 | ENSG00000198860.14 | transcript | ENST00000645668.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTC13_chr1_230901243_230983861 | 230949404 | T | TAAAAAAA others(301): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 |
a0001a0008 | a0001c0004a0008c0021 | a0001c0004t0002a0008c0021t0002 | a0001c0004t0002g0187 a0008c0021t0002g0188 |
2 | 126 | 0.0159 | 308 | c.514 others(325): Show |
TTC13 | ENSG00000143643.13 | transcript | ENST00000366661.9 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121971182 | C | CTGCCCGG others(301): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02922.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(1): Show | a0001c0001t0001g0100 a0001c0001t0008g0141 a0001c0001t0013g0138 others(1): Show |
4 | 134 | 0.0299 | 308 | c.148 others(327): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
UBE3D_chr6_82887390_83070841 | 82934930 | A | ATATATAT others(301): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 95 | 0.0105 | 308 | c.114 others(329): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355930 | C | CACACATA others(301): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG02895.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0009 a0002c0002t0002g0060 a0002c0002t0002g0061 |
3 | 265 | 0.0113 | 308 | c.-37 others(319): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3669 | chr11 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370063 | A | ATATGTGT others(301): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 441 | 0.0023 | 308 | c.-6- others(323): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370778 | C | CGTGTATA others(301): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18953.hp2 NA18960.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0051 a0002c0002t0005g0352 a0002c0002t0005g0353 others(3): Show |
6 | 404 | 0.0149 | 308 | c.-6- others(323): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679474 | T | TTATATAT others(301): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0041 | 1 | 33 | 0.0303 | 308 | c.82+ others(323): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209903587 | T | TATATATA others(301): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0166 | 1 | 185 | 0.0054 | 308 | c.458 others(327): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 28/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |