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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(883): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0007 | a0007c0011 | a0007c0011t0010 | a0007c0011t0010g0023 | 1 | 8 | 0.1250 | 890 | c.*69 others(901): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(883): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0030 | 1 | 74 | 0.0135 | 890 | c.937 others(905): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(883): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 74 | 0.0135 | 890 | c.937 others(905): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(883): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 74 | 0.0135 | 890 | c.937 others(905): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(883): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 74 | 0.0135 | 890 | c.937 others(905): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(883): Show |
intron_variant | MODIFIER | NA18943.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0002 | a0001c0001t0001g0154 a0001c0012t0002g0276 |
2 | 75 | 0.0267 | 890 | c.937 others(905): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(883): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 a0001c0001t0004g0044 a0001c0001t0004g0148 others(4): Show |
7 | 80 | 0.0875 | 890 | c.937 others(905): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(883): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0001g0132 a0001c0001t0004g0134 a0001c0001t0016g0133 others(2): Show |
5 | 78 | 0.0641 | 890 | c.937 others(905): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(883): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0043 | 1 | 74 | 0.0135 | 890 | c.937 others(905): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657018 | G | GGTCAGGG others(883): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0109 | 1 | 270 | 0.0037 | 890 | c.109 others(909): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(883): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 353 | 0.0028 | 890 | c.51+ others(905): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(883): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01934.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0017 others(1): Show |
14 | 217 | 0.0645 | 890 | c.-38 others(901): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(883): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 | 1 | 57 | 0.0175 | 890 | c.*31 others(901): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238178 | G | GAGGGAGG others(883): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0141 | 1 | 197 | 0.0051 | 890 | c.923 others(909): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875284 | C | CCACCCCC others(883): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0184 | 1 | 243 | 0.0041 | 890 | c.*39 others(901): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2458 | chr20 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(883): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01106.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0023 a0001c0001t0002g0008 a0001c0001t0002g0017 others(27): Show |
30 | 31 | 0.9677 | 890 | c.159 others(911): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(883): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0003g0059 others(16): Show |
19 | 20 | 0.9500 | 890 | c.159 others(911): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(883): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0009 | a0001c0009t0026 | a0001c0009t0026g0041 | 1 | 2 | 0.5000 | 890 | c.159 others(911): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(883): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 2 | 0.5000 | 890 | c.159 others(911): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(883): Show |
intron_variant | MODIFIER | HG01192.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 |
2 | 3 | 0.6667 | 890 | c.159 others(911): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(883): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 |
2 | 7 | 0.2857 | 890 | c.-17 others(909): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(883): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 6 | 0.1667 | 890 | c.-17 others(909): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(883): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0041 | 1 | 6 | 0.1667 | 890 | c.-17 others(909): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807495 | T | TCCCTCCC others(883): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 176 | 0.0057 | 890 | c.*33 others(901): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3209 | chr2 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(883): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0017 | a0017c0019 | a0017c0019t0001 | a0017c0019t0001g0079 | 1 | 46 | 0.0217 | 890 | c.487 others(905): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(883): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 46 | 0.0217 | 890 | c.487 others(905): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TATTTTAT others(883): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0208 | 1 | 207 | 0.0048 | 890 | c.41- others(905): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(883): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0019others(1): Show | a0001c0001t0003g0163 a0001c0001t0006g0009 a0001c0001t0006g0161 others(2): Show |
5 | 128 | 0.0391 | 890 | c.*65 others(901): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(883): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0027 | 1 | 124 | 0.0081 | 890 | c.*65 others(901): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(883): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02615.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0064a0002c0002t0004 | a0001c0001t0064g0271 a0002c0002t0004g0115 |
2 | 7 | 0.2857 | 890 | c.368 others(907): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATAAA others(883): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 890 | c.-32 others(901): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(883): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 | 1 | 125 | 0.0080 | 890 | c.-49 others(901): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(883): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0088 | 1 | 8 | 0.1250 | 890 | c.115 others(907): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AGAAAGGG others(883): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0084 | 1 | 229 | 0.0044 | 890 | c.225 others(907): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AGAAAGGG others(883): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0028 | a0001c0002t0002g0088 a0001c0002t0028g0089 |
2 | 230 | 0.0087 | 890 | c.225 others(907): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO5A_chr15_52302283_52533880 | 52523965 | G | GACAGTGC others(883): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG00738.hp2 others(52): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0010others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0006others(10): Show | a0001c0001t0001g0136 a0002c0002t0002g0081 a0002c0002t0002g0082 others(52): Show |
55 | 296 | 0.1858 | 890 | c.27+ others(905): Show |
MYO5A | ENSG00000197535.16 | transcript | ENST00000399233.7 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807495 | T | TCCCTCCC others(883): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0164 | 1 | 185 | 0.0054 | 890 | c.-17 others(901): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1697 | chr2 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841420 | C | CGCATCTC others(883): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 209 | 0.0048 | 890 | c.361 others(909): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841638 | A | ACCCTGAC others(883): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 176 | 0.0057 | 890 | c.361 others(909): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
SLX1A_chr16_30188875_30202561 | 30199227 | C | CAAAACCC others(883): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 194 | 0.0052 | 890 | c.*17 others(901): Show |
SLX1A | ENSG00000132207.18 | transcript | ENST00000251303.11 | protein_coding | 1667 | chr16 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637386 | A | AATATATA others(883): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 263 | 0.0038 | 890 | c.*72 others(901): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3852 | chr10 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(883): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 28 | 0.0357 | 890 | c.113 others(909): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(883): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0084 others(23): Show |
26 | 53 | 0.4906 | 890 | c.113 others(909): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629112 | A | AGGCGGGA others(883): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0003 | a0003c0006 | a0003c0006t0075 | a0003c0006t0075g0293 | 1 | 220 | 0.0045 | 890 | c.299 others(907): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(883): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0152 | 1 | 8 | 0.1250 | 890 | c.657 others(905): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870319 | C | CACACACC others(883): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 316 | 0.0032 | 890 | c.*35 others(909): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(883): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 83 | 0.0120 | 890 | c.392 others(907): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32361525 | T | TAAGACAC others(883): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 336 | 0.0030 | 890 | c.163 others(907): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 12/38 | chr21 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(884): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0006 | a0002c0006t0101 | a0002c0006t0101g0066 | 1 | 206 | 0.0049 | 891 | c.106 others(910): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980232 | C | GTGCCCGG others(884): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0162 | 1 | 211 | 0.0047 | 891 | c.604 others(906): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar |