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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TBCC_chr6_42739498_42751103 | 42746223 | G | GGGGGCGG others(6): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 384 | 0.0026 | 13 | c.-15 others(22): Show |
TBCC | ENSG00000124659.7 | transcript | ENST00000372876.2 | protein_coding | 121 | chr6 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82751576 | G | GCCCCCGC others(6): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(95): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0009others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(33): Show | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 others(95): Show |
98 | 282 | 0.3475 | 13 | c.-61 others(22): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 488 | chr17 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82751587 | G | GCCCCCGC others(6): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG03516.hp1 |
a0002 | a0002c0023a0002c0043 | a0002c0023t0037a0002c0043t0036 | a0002c0023t0037g0003 a0002c0043t0036g0001 |
2 | 183 | 0.0109 | 13 | c.-60 others(22): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 477 | chr17 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82758384 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01346.hp1 HG01891.hp1 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0009a0001c0027others(2): Show | a0001c0001t0002a0001c0009t0008a0001c0027t0001others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0037 others(10): Show |
13 | 112 | 0.1161 | 13 | c.235 others(30): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82758384 | G | GGAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0079 | 1 | 100 | 0.0100 | 13 | c.235 others(30): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82758396 | A | AAAATAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 |
a0003 | a0003c0004a0003c0018 | a0003c0004t0004a0003c0018t0024 | a0003c0004t0004g0196 a0003c0018t0024g0195 |
2 | 311 | 0.0064 | 13 | c.235 others(30): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82758400 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01358.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0043others(5): Show | a0001c0001t0002g0057 a0001c0001t0006g0011 a0001c0001t0006g0054 others(10): Show |
13 | 235 | 0.0553 | 13 | c.235 others(30): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82758400 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01516.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0002g0065 a0001c0001t0006g0063 a0001c0002t0001g0064 others(8): Show |
11 | 233 | 0.0472 | 13 | c.235 others(30): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82758400 | A | AAAAATAA others(6): Show |
intron_variant | MODIFIER | HG02273.hp2 HG03491.hp2 HG03831.hp1 others(7): Show |
a0003 | a0003c0004a0003c0018a0003c0047 | a0003c0004t0004a0003c0004t0013a0003c0018t0003others(1): Show | a0003c0004t0004g0176 a0003c0004t0004g0188 a0003c0004t0004g0190 others(7): Show |
10 | 232 | 0.0431 | 13 | c.235 others(30): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82785047 | G | GGGGGGTC others(6): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0299 | 1 | 316 | 0.0032 | 13 | c.771 others(30): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82855235 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0010 | a0002c0010t0009 | a0002c0010t0009g0149 | 1 | 21 | 0.0476 | 13 | c.131 others(34): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82899173 | C | CGTCCTCG others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01433.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0039 | a0002c0003t0003g0208 a0002c0003t0003g0219 a0002c0003t0003g0220 others(5): Show |
8 | 316 | 0.0253 | 13 | c.165 others(32): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 17/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235371038 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0132 | 1 | 31 | 0.0323 | 13 | c.-32 others(30): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235400408 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0035 | a0001c0005t0035g0260 | 1 | 75 | 0.0133 | 13 | c.101 others(30): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235411603 | G | GAATAATA others(6): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0091 | 1 | 266 | 0.0038 | 13 | c.186 others(30): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBKBP1_chr17_47689161_47717052 | 47700289 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00738.hp2 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0005a0003c0006others(3): Show | a0001c0001t0001a0001c0001t0005a0002c0005t0001others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0020 others(26): Show |
39 | 135 | 0.2889 | 13 | c.872 others(28): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBL1XR1_chr3_177014344_177202482 | 177017422 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02071.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0192 others(8): Show |
11 | 92 | 0.1196 | 13 | c.*80 others(24): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1921 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177069783 | A | AAAGGAAA others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01081.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0011others(4): Show | a0001c0001t0008g0036 a0001c0001t0010g0060 a0001c0001t0011g0280 others(5): Show |
9 | 250 | 0.0360 | 13 | c.-45 others(30): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177069793 | A | AAAAGGAA others(6): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0299 | 1 | 94 | 0.0106 | 13 | c.-45 others(30): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177069793 | A | AAAGGAAA others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0196 |
2 | 95 | 0.0211 | 13 | c.-45 others(30): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177071031 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01255.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0002g0017 a0001c0001t0002g0045 a0001c0001t0002g0048 others(8): Show |
11 | 128 | 0.0859 | 13 | c.-45 others(30): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177112107 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0205 a0001c0001t0004g0257 |
2 | 162 | 0.0123 | 13 | c.-12 others(34): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177112107 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0224 | 1 | 161 | 0.0062 | 13 | c.-12 others(34): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177112108 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 NA19054.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0014g0232 |
3 | 273 | 0.0110 | 13 | c.-12 others(34): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177146589 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0047others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0019 others(10): Show |
13 | 100 | 0.1300 | 13 | c.-12 others(34): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177187943 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0059 | 1 | 169 | 0.0059 | 13 | c.-12 others(32): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177189649 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0056 | a0001c0001t0006g0166 a0001c0001t0056g0165 |
2 | 225 | 0.0089 | 13 | c.-12 others(32): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177189664 | A | AAAATTAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01081.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0087 a0001c0001t0001g0119 a0001c0001t0001g0145 others(23): Show |
26 | 222 | 0.1171 | 13 | c.-12 others(32): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1X_chrX_9460058_9724740 | 9665539 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 195 | 0.0051 | 13 | c.211 others(32): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 5/17 | chrX | TogoVar | |||||||
TBL1X_chrX_9460058_9724740 | 9684598 | T | TTAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20129.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0019a0001c0003t0018 | a0001c0002t0019g0068 a0001c0003t0018g0067 |
2 | 12 | 0.1667 | 13 | c.357 others(28): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 6/17 | chrX | TogoVar | |||||||
TBL1X_chrX_9460058_9724740 | 9692880 | C | CACTATAC others(6): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 197 | 0.0051 | 13 | c.892 others(28): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBPL1_chr6_133948224_133995432 | 133985276 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 246 | 0.0041 | 13 | c.481 others(28): Show |
TBPL1 | ENSG00000028839.10 | transcript | ENST00000237264.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TBPL1_chr6_133948224_133995432 | 133985297 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0054 | a0001c0001t0042g0037 a0001c0001t0054g0222 |
2 | 205 | 0.0098 | 13 | c.481 others(28): Show |
TBPL1 | ENSG00000028839.10 | transcript | ENST00000237264.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TBPL2_chr14_55409210_55445616 | 55428119 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0151 |
2 | 84 | 0.0238 | 13 | c.860 others(28): Show |
TBPL2 | ENSG00000182521.6 | transcript | ENST00000247219.6 | protein_coding | 5/6 | chr14 | TogoVar | |||||||
TBPL2_chr14_55409210_55445616 | 55432442 | A | AACAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01074.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0003 | a0001c0001t0002g0271 a0002c0002t0001g0038 a0002c0002t0001g0040 others(4): Show |
12 | 305 | 0.0393 | 13 | c.692 others(30): Show |
TBPL2 | ENSG00000182521.6 | transcript | ENST00000247219.6 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
TBPL2_chr14_55409210_55445616 | 55439617 | C | CCCCCCCC others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(28): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0092 others(28): Show |
31 | 209 | 0.1483 | 13 | c.54+ others(26): Show |
TBPL2 | ENSG00000182521.6 | transcript | ENST00000247219.6 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
TBPL2_chr14_55409210_55445616 | 55439617 | C | CCCCCCCC others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 others(6): Show |
9 | 187 | 0.0481 | 13 | c.54+ others(26): Show |
TBPL2 | ENSG00000182521.6 | transcript | ENST00000247219.6 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
TBPL2_chr14_55409210_55445616 | 55439930 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(70): Show |
a0001 | a0001c0001a0001c0009a0001c0011 | a0001c0001t0001a0001c0001t0010a0001c0009t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(66): Show |
73 | 155 | 0.4710 | 13 | c.54+ others(26): Show |
TBPL2 | ENSG00000182521.6 | transcript | ENST00000247219.6 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
TBX15_chr1_118878047_118993343 | 118893485 | G | GGAAAGAA others(6): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0031 | 1 | 105 | 0.0095 | 13 | c.102 others(32): Show |
TBX15 | ENSG00000092607.15 | transcript | ENST00000369429.5 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
TBX15_chr1_118878047_118993343 | 118939407 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02683.hp1 |
a0002a0007 | a0002c0006a0007c0015 | a0002c0006t0001a0007c0015t0003 | a0002c0006t0001g0312 a0007c0015t0003g0336 |
2 | 243 | 0.0082 | 13 | c.206 others(30): Show |
TBX15 | ENSG00000092607.15 | transcript | ENST00000369429.5 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
TBX15_chr1_118878047_118993343 | 118959053 | A | AGAGAGAG others(6): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0271 | 1 | 362 | 0.0028 | 13 | c.206 others(32): Show |
TBX15 | ENSG00000092607.15 | transcript | ENST00000369429.5 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
TBX1_chr22_19755778_19772334 | 19768953 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 NA18612.hp2 NA18942.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0024 |
4 | 150 | 0.0267 | 13 | c.*20 others(24): Show |
TBX1 | ENSG00000184058.16 | transcript | ENST00000649276.2 | protein_coding | 1620 | chr22 | TogoVar | |||||||
TBX20_chr7_35197430_35259100 | 35213877 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02965.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0003 | a0001c0001t0001g0128 a0001c0003t0001g0123 a0001c0003t0003g0114 others(2): Show |
5 | 101 | 0.0495 | 13 | c.891 others(30): Show |
TBX20 | ENSG00000164532.11 | transcript | ENST00000408931.4 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
TBX21_chr17_47728236_47751122 | 47747834 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 NA18955.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0002 | a0001c0002t0003g0033 a0001c0003t0002g0003 |
2 | 235 | 0.0085 | 13 | c.*24 others(24): Show |
TBX21 | ENSG00000073861.3 | transcript | ENST00000177694.2 | protein_coding | 1713 | chr17 | TogoVar | |||||||
TBX22_chrX_80009753_80036774 | 80012161 | A | AAGAAGAG others(6): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG02559.hp2 NA18950.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0044 others(8): Show |
12 | 310 | 0.0387 | 13 | c.-27 others(24): Show |
TBX22 | ENSG00000122145.15 | transcript | ENST00000373296.8 | protein_coding | 2591 | chrX | TogoVar | |||||||
TBX2_chr17_61394843_61414466 | 61402971 | A | AGAGAGAG others(6): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02080.hp2 HG02165.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0014 | a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0004g0006 others(2): Show |
14 | 230 | 0.0609 | 13 | c.664 others(26): Show |
TBX2 | ENSG00000121068.14 | transcript | ENST00000240328.4 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
TBX2_chr17_61394843_61414466 | 61402971 | A | AGAGGGAG others(6): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02148.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0002t0014a0001c0003t0005others(1): Show | a0001c0002t0006g0045 a0001c0002t0014g0028 a0001c0003t0005g0005 others(1): Show |
6 | 222 | 0.0270 | 13 | c.664 others(26): Show |
TBX2 | ENSG00000121068.14 | transcript | ENST00000240328.4 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
TBX5_chr12_114348911_114411144 | 114384745 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG03831.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0349 a0001c0001t0002g0219 |
2 | 279 | 0.0072 | 13 | c.755 others(28): Show |
TBX5 | ENSG00000089225.20 | transcript | ENST00000405440.7 | protein_coding | 7/8 | chr12 | TogoVar | |||||||
TBXAS1_chr7_139824264_140025293 | 139898413 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0041 a0002c0002t0001g0026 |
2 | 63 | 0.0317 | 13 | c.237 others(32): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139951950 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02559.hp1 HG02698.hp1 others(4): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0005others(1): Show | a0001c0001t0001a0004c0004t0001a0006c0005t0001others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0108 a0001c0001t0001g0154 others(4): Show |
7 | 173 | 0.0405 | 13 | c.451 others(30): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |