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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2820): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 3 | 0.3333 | 2827 | c.-28 others(2838): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2820): Show |
upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 3 | 0.3333 | 2827 | c.-28 others(2838): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2820): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0006 | 1 | 3 | 0.3333 | 2827 | c.-28 others(2838): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
ST8SIA5_chr18_46662821_46762053 | 46726621 | T | TTAAAATA others(2820): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 328 | 0.0030 | 2827 | c.132 others(2846): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
STT3A_chr11_125587852_125628091 | 125589067 | A | AAGAACTA others(2820): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0074 | 1 | 324 | 0.0031 | 2827 | c.-38 others(2838): Show |
STT3A | ENSG00000134910.14 | transcript | ENST00000392708.9 | protein_coding | 3784 | chr11 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2821): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0062 | 1 | 371 | 0.0027 | 2828 | c.96+ others(2843): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2821): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0169 | 1 | 288 | 0.0035 | 2828 | c.96+ others(2843): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
GRIN2D_chr19_48388668_48449931 | 48424267 | T | TTTTTTTT others(2821): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03239.hp2 HG03688.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 others(3): Show |
6 | 350 | 0.0171 | 2828 | c.225 others(2847): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2821): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 10 | 0.1000 | 2828 | c.153 others(2847): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360489 | T | TGGGTGGA others(2821): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0050 | a0050c0112 | a0050c0112t0001 | a0050c0112t0001g0076 | 1 | 117 | 0.0085 | 2828 | c.450 others(2845): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273007 | G | GCGGGTGA others(2821): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 132 | 0.0076 | 2828 | c.438 others(2845): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
ST8SIA5_chr18_46662821_46762053 | 46726621 | T | TTAAAATA others(2821): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 328 | 0.0030 | 2828 | c.132 others(2847): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
USP6_chr17_5111032_5179991 | 5157923 | G | GCCCAGGC others(2821): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0129 | 1 | 358 | 0.0028 | 2828 | c.282 others(2847): Show |
USP6 | ENSG00000129204.17 | transcript | ENST00000574788.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2822): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 | 1 | 166 | 0.0060 | 2829 | c.173 others(2850): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(2822): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0128 | 1 | 129 | 0.0078 | 2829 | c.280 others(2850): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EI24_chr11_125564477_125589684 | 125589067 | A | AAGAACTA others(2822): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0031 | 2 | 323 | 0.0062 | 2829 | c.*53 others(2840): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 4384 | chr11 | TogoVar | |||||||
GRIN2D_chr19_48388668_48449931 | 48424267 | T | TTTTTTTT others(2822): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0314 | 1 | 345 | 0.0029 | 2829 | c.225 others(2848): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653979 | G | GAATAATG others(2822): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 | 1 | 228 | 0.0044 | 2829 | c.139 others(2850): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2822): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0161 | 1 | 233 | 0.0043 | 2829 | c.-91 others(2850): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2822): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 233 | 0.0043 | 2829 | c.-91 others(2850): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2822): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 10 | 0.1000 | 2829 | c.153 others(2848): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2822): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 10 | 0.1000 | 2829 | c.153 others(2848): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2822): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 10 | 0.1000 | 2829 | c.153 others(2848): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2822): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0023 | a0023c0091 | a0023c0091t0001 | a0023c0091t0001g0207 | 1 | 34 | 0.0294 | 2829 | c.299 others(2844): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2822): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 82 | 0.0122 | 2829 | c.147 others(2846): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 494762 | T | TGAGGTGG others(2822): Show |
intron_variant | MODIFIER | NA19043.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0021 a0001c0001t0025g0109 |
2 | 251 | 0.0080 | 2829 | c.126 others(2848): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(2822): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0272 | 1 | 7 | 0.1429 | 2829 | c.126 others(2848): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2822): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 3 | 0.3333 | 2829 | c.-28 others(2840): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
ST8SIA5_chr18_46662821_46762053 | 46726621 | T | TTAAAATA others(2822): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 328 | 0.0030 | 2829 | c.132 others(2848): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629082 | C | CGGGAAGG others(2822): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 | 1 | 288 | 0.0035 | 2829 | c.299 others(2846): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2822): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0054 | a0001c0002t0022g0152 a0001c0002t0054g0244 |
2 | 230 | 0.0087 | 2829 | c.105 others(2848): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2823): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 50 | 0.0200 | 2830 | c.147 others(2847): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EI24_chr11_125564477_125589684 | 125589067 | A | AAGAACTA others(2823): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0092 | 1 | 322 | 0.0031 | 2830 | c.*53 others(2841): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 4384 | chr11 | TogoVar | |||||||
GRIN2D_chr19_48388668_48449931 | 48424266 | T | TTTTTTTT others(2823): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0029 a0001c0002t0002g0028 |
2 | 350 | 0.0057 | 2830 | c.225 others(2849): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19338492 | G | GGATAATA others(2823): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0044 | a0044c0074 | a0044c0074t0001 | a0044c0074t0001g0140 | 1 | 147 | 0.0068 | 2830 | c.390 others(2849): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 24/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19338492 | G | GGATAATA others(2823): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02486.hp1 |
a0036a0040a0045 | a0036c0049a0040c0042a0045c0021 | a0036c0049t0001a0040c0042t0001a0045c0021t0002 | a0036c0049t0001g0022 a0040c0042t0001g0023 a0045c0021t0002g0092 |
3 | 149 | 0.0201 | 2830 | c.390 others(2849): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 24/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2823): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 3 | 0.3333 | 2830 | c.-28 others(2841): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2823): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 3 | 0.3333 | 2830 | c.-28 others(2841): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2823): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(63): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(36): Show |
66 | 68 | 0.9706 | 2830 | c.-28 others(2841): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2823): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 NA19005.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0143 a0001c0001t0001g0159 |
3 | 5 | 0.6000 | 2830 | c.-28 others(2841): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2823): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 3 | 0.3333 | 2830 | c.-28 others(2841): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
STT3A_chr11_125587852_125628091 | 125589067 | A | AAGAACTA others(2823): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0071 | 1 | 324 | 0.0031 | 2830 | c.-38 others(2841): Show |
STT3A | ENSG00000134910.14 | transcript | ENST00000392708.9 | protein_coding | 3784 | chr11 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2823): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0247 | 1 | 19 | 0.0526 | 2830 | c.389 others(2849): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRE1_chr19_6882579_6945450 | 6916520 | G | GGGAAGTC others(2824): Show |
intron_variant | MODIFIER | HG03710.hp1 NA20752.hp1 |
a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0152 a0011c0010t0001g0262 |
2 | 334 | 0.0060 | 2831 | c.142 others(2848): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(2824): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 145 | 0.0069 | 2831 | c.298 others(2848): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(2824): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 235 | 0.0043 | 2831 | c.-22 others(2842): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2824): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034 | 1 | 146 | 0.0068 | 2831 | c.127 others(2850): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2824): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0129 | 1 | 146 | 0.0068 | 2831 | c.127 others(2850): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(2824): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01934.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(1): Show |
4 | 7 | 0.5714 | 2831 | c.115 others(2850): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EI24_chr11_125564477_125589684 | 125589067 | A | AAGAACTA others(2824): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0085 | 1 | 322 | 0.0031 | 2831 | c.*53 others(2842): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 4384 | chr11 | TogoVar |