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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TCF3_chr19_1604292_1657615 | 1627945 | A | ACGGGGTG others(192): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0006 | a0003c0006t0017 | a0003c0006t0017g0295 | 1 | 328 | 0.0030 | 199 | c.299 others(214): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628048 | A | ACGGGGTG others(192): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0083 | 1 | 334 | 0.0030 | 199 | c.299 others(214): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628664 | A | ACGGGGTG others(192): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0183 | 1 | 333 | 0.0030 | 199 | c.299 others(216): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1272982 | G | GACCGCCA others(192): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0043 | 1 | 326 | 0.0031 | 199 | c.228 others(216): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273451 | C | CACGACCG others(192): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 130 | 0.0077 | 199 | c.228 others(218): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TMEM132B_chr12_125181386_125667369 | 125612956 | T | TTATATAA others(192): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0004 | 1 | 75 | 0.0133 | 199 | c.143 others(220): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GTTAGGGA others(192): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG04199.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 2 | 167 | 0.0120 | 199 | c.*49 others(210): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GTTAGGGA others(192): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 166 | 0.0060 | 199 | c.*49 others(210): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | |||||||
TPPP_chr5_654862_698352 | 682358 | T | TACTAGGG others(192): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 116 | 0.0086 | 199 | c.-4- others(214): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(192): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 144 | 0.0069 | 199 | c.*28 others(210): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152292 | A | AGGGGAGT others(192): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0080 | 1 | 218 | 0.0046 | 199 | c.*49 others(210): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4550 | chr4 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222032 | T | TCGCCACC others(192): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 338 | 0.0059 | 199 | c.*27 others(210): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2244 | chr6 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222032 | T | TCGCCACC others(192): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 338 | 0.0059 | 199 | c.*27 others(210): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2244 | chr6 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15686607 | T | TATCATCC others(192): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 370 | 0.0027 | 199 | c.798 others(218): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870877 | C | CCCCACAC others(192): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 327 | 0.0031 | 199 | c.*35 others(218): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19907969 | G | GTGGGTAG others(192): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01256.hp2 HG01258.hp1 others(11): Show |
a0004a0005a0006 | a0004c0008a0004c0017a0004c0027others(3): Show | a0004c0008t0002a0004c0017t0002a0004c0027t0001others(3): Show | a0004c0008t0002g0184 a0004c0008t0002g0200 a0004c0008t0002g0215 others(10): Show |
14 | 369 | 0.0379 | 199 | c.662 others(216): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 8/17 | chr22 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1249074 | C | CGGGACAC others(192): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 322 | 0.0031 | 199 | c.*61 others(210): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4837 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1249079 | C | CACGGGCA others(192): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 322 | 0.0031 | 199 | c.*61 others(210): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4832 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1249145 | C | CACGGGCA others(192): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 321 | 0.0031 | 199 | c.*60 others(210): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4766 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1249541 | C | CACGGGCA others(192): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 320 | 0.0031 | 199 | c.*56 others(210): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4370 | chr1 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917187 | C | CGGAGGCT others(192): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 274 | 0.0036 | 199 | c.218 others(216): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917187 | C | CGGAGGCT others(192): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0126 |
2 | 275 | 0.0073 | 199 | c.218 others(216): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917245 | C | CTGTGGGA others(192): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 277 | 0.0036 | 199 | c.218 others(216): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
UNC5B_chr10_71207570_71307864 | 71296938 | C | CGGAGGTG others(192): Show |
intron_variant | MODIFIER | HG00639.hp2 NA19043.hp2 |
a0001a0013 | a0001c0006a0013c0033 | a0001c0006t0081a0013c0033t0060 | a0001c0006t0081g0011 a0013c0033t0060g0191 |
2 | 342 | 0.0058 | 199 | c.249 others(216): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
URB2_chr1_229621247_229665200 | 229628163 | T | TGTATATA others(192): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0045 | 1 | 353 | 0.0028 | 199 | c.126 others(214): Show |
URB2 | ENSG00000135763.10 | transcript | ENST00000258243.7 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
USP43_chr17_9640517_9734687 | 9718678 | T | TAAAAATA others(192): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02027.hp2 HG02109.hp2 others(4): Show |
a0001a0002a0003 | a0001c0004a0001c0007a0001c0029others(4): Show | a0001c0004t0001a0001c0007t0001a0001c0029t0002others(4): Show | a0001c0004t0001g0169 a0001c0007t0001g0052 a0001c0029t0002g0194 others(4): Show |
7 | 299 | 0.0234 | 199 | c.233 others(218): Show |
USP43 | ENSG00000154914.17 | transcript | ENST00000285199.12 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467312 | A | AGGAAGAG others(192): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 249 | 0.0040 | 199 | c.*92 others(208): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 803 | chrX | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176723502 | T | TGACATAG others(192): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 222 | 0.0045 | 199 | c.552 others(216): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184895600 | C | CCTCCTCC others(192): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0224 | 1 | 260 | 0.0038 | 199 | c.200 others(216): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895628 | C | CCCCCCCT others(192): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0184 | 1 | 208 | 0.0048 | 199 | c.200 others(216): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895629 | C | CCCCCTCC others(192): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 156 | 0.0064 | 199 | c.200 others(216): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
WDR87_chr19_37879823_37911594 | 37881069 | T | TATATATA others(192): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0019 | 1 | 325 | 0.0031 | 199 | c.*38 others(210): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3753 | chr19 | TogoVar | |||||||
ZAN_chr7_100728595_100802797 | 100742883 | G | GGGAGAGG others(192): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0060 | 1 | 306 | 0.0033 | 199 | c.767 others(216): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88461004 | G | GGACCGAG others(192): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0006 | a0006c0015 | a0006c0015t0019 | a0006c0015t0019g0043 | 1 | 218 | 0.0046 | 199 | c.40+ others(214): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88461152 | A | AGGGGCGG others(192): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0013 | a0013c0062 | a0013c0062t0032 | a0013c0062t0032g0102 | 1 | 182 | 0.0055 | 199 | c.40+ others(214): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZFR2_chr19_3799024_3874038 | 3820856 | G | GGGGGACA others(192): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19003.hp2 |
a0002a0027 | a0002c0002a0027c0031 | a0002c0002t0002a0027c0031t0003 | a0002c0002t0002g0379 a0027c0031t0003g0151 |
2 | 388 | 0.0052 | 199 | c.163 others(216): Show |
ZFR2 | ENSG00000105278.12 | transcript | ENST00000262961.9 | protein_coding | 10/18 | chr19 | TogoVar | |||||||
ZNF253_chr19_19860882_19899674 | 19891007 | A | ATTTTTTT others(192): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0010t0003 | a0001c0001t0003g0264 a0001c0010t0003g0263 |
2 | 362 | 0.0055 | 199 | c.227 others(214): Show |
ZNF253 | ENSG00000256771.5 | transcript | ENST00000589717.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF681_chr19_23734195_23763891 | 23761901 | A | ATCCTTCC others(192): Show |
upstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 287 | 0.0035 | 199 | c.-31 others(210): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3011 | chr19 | TogoVar | |||||||
ZNF888_chr19_52899415_52928428 | 52919960 | C | CGGCCAGC others(192): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0011 | a0004c0011t0015 | a0004c0011t0015g0143 | 1 | 411 | 0.0024 | 199 | c.-17 others(218): Show |
ZNF888 | ENSG00000213793.6 | transcript | ENST00000638862.2 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ZNF888_chr19_52899415_52928428 | 52919960 | C | CGGCCAGC others(192): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0002a0001c0004t0007a0001c0004t0021others(3): Show | a0001c0001t0002g0119 a0001c0004t0007g0120 a0001c0004t0007g0248 others(8): Show |
12 | 422 | 0.0284 | 199 | c.-17 others(218): Show |
ZNF888 | ENSG00000213793.6 | transcript | ENST00000638862.2 | protein_coding | 1/4 | chr19 | TogoVar |