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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(651): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 4 | 0.2500 | 658 | c.114 others(677): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(651): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 4 | 0.2500 | 658 | c.114 others(677): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MS4A4E_chr11_60195270_60248137 | 60206512 | T | TGTATATA others(651): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 59 | 0.0169 | 658 | c.484 others(673): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(651): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 165 | 0.0061 | 658 | c.394 others(673): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(651): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 165 | 0.0061 | 658 | c.394 others(673): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAT others(651): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 36 | 0.0278 | 658 | c.474 others(677): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCCAGTC others(651): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0179 | 1 | 8 | 0.1250 | 658 | c.140 others(675): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01255.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0044 others(17): Show |
20 | 45 | 0.4444 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0002g0040 others(6): Show |
9 | 34 | 0.2647 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01496.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0037 others(8): Show |
11 | 36 | 0.3056 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02451.hp1 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0002g0047 others(4): Show |
7 | 32 | 0.2188 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(651): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 26 | 0.0385 | 658 | c.83- others(677): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950683 | A | ACACACGT others(651): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01074.hp2 others(10): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0006g0059 others(8): Show |
13 | 305 | 0.0426 | 658 | c.-27 others(669): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2556 | chr16 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 976810 | G | GCAACCCC others(651): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 75 | 0.0133 | 658 | c.215 others(675): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(651): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG03130.hp1 others(2): Show |
a0005a0011a0021others(1): Show | a0005c0014a0011c0018a0021c0058others(1): Show | a0005c0014t0006a0011c0018t0006a0021c0058t0015others(1): Show | a0005c0014t0006g0281 a0005c0014t0006g0284 a0011c0018t0006g0278 others(2): Show |
5 | 144 | 0.0347 | 658 | c.*48 others(669): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(651): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02970.hp1 |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0014 | a0002c0002t0009g0240 a0002c0002t0014g0241 a0002c0002t0014g0242 |
3 | 230 | 0.0130 | 658 | c.306 others(677): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(651): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 228 | 0.0044 | 658 | c.306 others(677): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289972 | G | GTCTCTGC others(651): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 130 | 0.0077 | 658 | c.166 others(675): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(651): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01070.hp1 HG01071.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 others(48): Show |
51 | 52 | 0.9808 | 658 | c.198 others(677): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(651): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03704.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0004t0001 | a0001c0002t0001g0117 a0001c0002t0002g0028 a0001c0002t0002g0073 others(2): Show |
5 | 6 | 0.8333 | 658 | c.198 others(677): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(651): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 2 | 0.5000 | 658 | c.198 others(677): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(651): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 193 | 0.0052 | 658 | c.165 others(675): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401812 | C | CCGCTCAC others(651): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 229 | 0.0044 | 658 | c.*40 others(669): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3903 | chr11 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(651): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 2 | 0.5000 | 658 | c.624 others(673): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGAAGGG others(651): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG02886.hp1 NA18747.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 7 | 0.7143 | 658 | c.*12 others(669): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGAAGGG others(651): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 3 | 0.3333 | 658 | c.*12 others(669): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(651): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 658 | c.*12 others(669): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168614186 | C | CACCTACA others(651): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 136 | 0.0074 | 658 | c.907 others(675): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82764855 | G | GTGTGCTC others(651): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18962.hp1 NA19240.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0029a0002c0006t0021 | a0001c0002t0029g0257 a0002c0006t0021g0139 a0002c0006t0021g0141 |
3 | 312 | 0.0096 | 658 | c.333 others(673): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89908674 | T | TCCTCCCA others(651): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0057 | 1 | 237 | 0.0042 | 658 | c.179 others(677): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TECPR1_chr7_98209624_98257232 | 98242993 | C | CCCACCCA others(651): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0029a0002c0002others(9): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0005others(45): Show | a0001c0004t0001g0004 a0001c0004t0001g0016 a0001c0004t0002g0163 others(86): Show |
94 | 313 | 0.3003 | 658 | c.657 others(673): Show |
TECPR1 | ENSG00000205356.10 | transcript | ENST00000447648.7 | protein_coding | 6/25 | chr7 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(651): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0241 | 1 | 111 | 0.0090 | 658 | c.924 others(675): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(651): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 111 | 0.0090 | 658 | c.924 others(675): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(651): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 111 | 0.0090 | 658 | c.924 others(675): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(651): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03831.hp2 HG04199.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0044 a0001c0001t0001g0138 a0001c0001t0002g0039 others(2): Show |
5 | 162 | 0.0309 | 658 | c.924 others(675): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(651): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0108 | 1 | 158 | 0.0063 | 658 | c.924 others(675): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747979 | G | GCTGGGGT others(651): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0309 | 1 | 244 | 0.0041 | 658 | c.189 others(673): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377592 | C | CTCTCCCC others(651): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0016 | a0016c0026 | a0016c0026t0002 | a0016c0026t0002g0102 | 1 | 46 | 0.0217 | 658 | c.-25 others(677): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(651): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 149 | 0.0067 | 658 | c.102 others(677): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930770 | C | CTGGGGTT others(651): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 463 | 0.0022 | 658 | c.*48 others(669): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4599 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(651): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 144 | 0.0069 | 658 | c.*28 others(669): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273358 | T | TTATATAT others(651): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 72 | 0.0139 | 658 | c.*29 others(669): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2245 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(651): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 115 | 0.0087 | 658 | c.*29 others(669): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(651): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 658 | c.*29 others(669): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152398 | A | AGGTGAGG others(651): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 | 1 | 223 | 0.0045 | 658 | c.*50 others(669): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4656 | chr4 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870128 | A | ACACCACA others(651): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 300 | 0.0033 | 658 | c.*35 others(677): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917081 | C | CTCGGAGG others(651): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0169 | 1 | 298 | 0.0034 | 658 | c.218 others(673): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159129257 | C | CTGGACTC others(651): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0048 | a0001c0005t0048g0325 | 1 | 334 | 0.0030 | 658 | c.151 others(677): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(651): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 12 | 0.0833 | 658 | c.55+ others(673): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(651): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 25 | 0.0400 | 658 | c.483 others(673): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |