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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TANGO2_chr22_20016110_20072164 | 20069470 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0057 | 1 | 21 | 0.0476 | 19 | c.*48 others(30): Show |
TANGO2 | ENSG00000183597.16 | transcript | ENST00000327374.9 | protein_coding | 2307 | chr22 | TogoVar | |||||||
TANGO6_chr16_68838531_69090182 | 68980383 | T | TCTCTCTC others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0160 |
2 | 93 | 0.0215 | 19 | c.284 others(38): Show |
TANGO6 | ENSG00000103047.8 | transcript | ENST00000261778.2 | protein_coding | 15/17 | chr16 | TogoVar | |||||||
TANGO6_chr16_68838531_69090182 | 68982630 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02615.hp1 HG02886.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0010 | a0001c0001t0001a0001c0003t0002a0005c0010t0001 | a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0207 others(3): Show |
6 | 143 | 0.0420 | 19 | c.284 others(38): Show |
TANGO6 | ENSG00000103047.8 | transcript | ENST00000261778.2 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TAOK1_chr17_29385363_29556903 | 29530962 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03139.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0007a0001c0001t0010a0001c0011t0007 | a0001c0001t0007g0245 a0001c0001t0010g0062 a0001c0011t0007g0006 |
3 | 74 | 0.0405 | 19 | c.236 others(36): Show |
TAOK1 | ENSG00000160551.12 | transcript | ENST00000261716.8 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TAOK3_chr12_118144801_118377907 | 118182623 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 200 | 0.0050 | 19 | c.133 others(38): Show |
TAOK3 | ENSG00000135090.14 | transcript | ENST00000392533.8 | protein_coding | 14/20 | chr12 | TogoVar | |||||||
TAOK3_chr12_118144801_118377907 | 118234212 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 52 | 0.0192 | 19 | c.552 others(34): Show |
TAOK3 | ENSG00000135090.14 | transcript | ENST00000392533.8 | protein_coding | 8/20 | chr12 | TogoVar | |||||||
TAPT1_chr4_16155505_16231471 | 16228734 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 NA18984.hp2 NA19010.hp1 others(2): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0006a0001c0009t0006 | a0001c0002t0006g0019 a0001c0002t0006g0145 a0001c0002t0006g0146 others(2): Show |
5 | 130 | 0.0385 | 19 | c.-22 others(30): Show |
TAPT1 | ENSG00000169762.17 | transcript | ENST00000405303.7 | protein_coding | 2264 | chr4 | TogoVar | |||||||
TARBP1_chr1_234386313_234484179 | 234397399 | T | TGGGGAGG others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp2 others(35): Show |
a0001a0002a0003others(9): Show | a0001c0010a0001c0014a0001c0015others(21): Show | a0001c0010t0001a0001c0014t0003a0001c0015t0001others(22): Show | a0001c0010t0001g0080 a0001c0014t0003g0015 a0001c0014t0003g0016 others(35): Show |
38 | 270 | 0.1407 | 19 | c.424 others(36): Show |
TARBP1 | ENSG00000059588.10 | transcript | ENST00000040877.2 | protein_coding | 26/29 | chr1 | TogoVar | |||||||
TARBP1_chr1_234386313_234484179 | 234397434 | G | GGGGGGGA others(12): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0214 | 1 | 272 | 0.0037 | 19 | c.424 others(36): Show |
TARBP1 | ENSG00000059588.10 | transcript | ENST00000040877.2 | protein_coding | 26/29 | chr1 | TogoVar | |||||||
TARM1_chr19_54064895_54086365 | 54086339 | C | CCCAGCTA others(12): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 408 | 0.0025 | 19 | c.-50 others(30): Show |
TARM1 | ENSG00000248385.8 | transcript | ENST00000432826.2 | protein_coding | 4975 | chr19 | TogoVar | |||||||
TARS2_chr1_150482419_150512602 | 150482489 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0300 others(2): Show |
5 | 188 | 0.0266 | 19 | c.-49 others(30): Show |
TARS2 | ENSG00000143374.18 | transcript | ENST00000369064.8 | protein_coding | 4929 | chr1 | TogoVar | |||||||
TAS1R1_chr1_6550307_6584755 | 6570022 | G | GAGAGAGA others(12): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0206 | 1 | 378 | 0.0026 | 19 | c.192 others(34): Show |
TAS1R1 | ENSG00000173662.21 | transcript | ENST00000333172.11 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
TAS2R13_chr12_10902926_10914562 | 10903931 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01167.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0004g0000 |
22 | 149 | 0.1477 | 19 | c.*44 others(30): Show |
TAS2R13 | ENSG00000212128.2 | transcript | ENST00000390677.2 | protein_coding | 3994 | chr12 | TogoVar | |||||||
TAS2R13_chr12_10902926_10914562 | 10903932 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 404 | 0.0025 | 19 | c.*44 others(30): Show |
TAS2R13 | ENSG00000212128.2 | transcript | ENST00000390677.2 | protein_coding | 3993 | chr12 | TogoVar | |||||||
TAS2R1_chr5_9622347_9635351 | 9633285 | G | GTATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 NA18941.hp1 NA18963.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006a0002c0002t0013 | a0002c0002t0003g0000 a0002c0002t0006g0000 a0002c0002t0013g0000 |
5 | 314 | 0.0159 | 19 | c.-32 others(30): Show |
TAS2R1 | ENSG00000169777.7 | transcript | ENST00000382492.4 | protein_coding | 2935 | chr5 | TogoVar | |||||||
TATDN1_chr8_124483498_124544085 | 124534145 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 68 | 0.0147 | 19 | c.22+ others(34): Show |
TATDN1 | ENSG00000147687.19 | transcript | ENST00000276692.11 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
TATDN2_chr3_10243459_10286218 | 10257841 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03688.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0256 a0002c0002t0003g0266 |
2 | 143 | 0.0140 | 19 | c.415 others(36): Show |
TATDN2 | ENSG00000157014.11 | transcript | ENST00000448281.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAT_chr16_71560660_71582092 | 71579084 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 NA19240.hp1 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0003 | a0001c0001t0015g0083 a0002c0002t0003g0003 |
3 | 155 | 0.0194 | 19 | c.-20 others(30): Show |
TAT | ENSG00000198650.11 | transcript | ENST00000355962.5 | protein_coding | 1993 | chr16 | TogoVar | |||||||
TAT_chr16_71560660_71582092 | 71579084 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00735.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0011a0002c0002t0029 | a0002c0002t0003g0003 a0002c0002t0011g0014 a0002c0002t0029g0101 |
5 | 157 | 0.0318 | 19 | c.-20 others(30): Show |
TAT | ENSG00000198650.11 | transcript | ENST00000355962.5 | protein_coding | 1993 | chr16 | TogoVar | |||||||
TAT_chr16_71560660_71582092 | 71579084 | A | AAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01358.hp2 HG01517.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 3 | 155 | 0.0194 | 19 | c.-20 others(30): Show |
TAT | ENSG00000198650.11 | transcript | ENST00000355962.5 | protein_coding | 1993 | chr16 | TogoVar | |||||||
TAT_chr16_71560660_71582092 | 71579084 | A | AAAAAAAT others(12): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 153 | 0.0065 | 19 | c.-20 others(30): Show |
TAT | ENSG00000198650.11 | transcript | ENST00000355962.5 | protein_coding | 1993 | chr16 | TogoVar | |||||||
TBC1D13_chr9_128782253_128815430 | 128813573 | A | ATAAATAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0013 | 1 | 396 | 0.0025 | 19 | c.*56 others(30): Show |
TBC1D13 | ENSG00000107021.16 | transcript | ENST00000372648.10 | protein_coding | 3144 | chr9 | TogoVar | |||||||
TBC1D14_chr4_6904826_7038114 | 6933276 | C | CCCCTCCC others(12): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0042 | 1 | 275 | 0.0036 | 19 | c.722 others(36): Show |
TBC1D14 | ENSG00000132405.19 | transcript | ENST00000409757.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D17_chr19_49872702_49893750 | 49885933 | C | CCATTGCA others(12): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19030.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0047 | 2 | 418 | 0.0048 | 19 | c.144 others(38): Show |
TBC1D17 | ENSG00000104946.14 | transcript | ENST00000221543.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TBC1D20_chr20_430480_467533 | 466018 | T | TAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0168 a0001c0001t0013g0227 |
2 | 331 | 0.0060 | 19 | c.-36 others(30): Show |
TBC1D20 | ENSG00000125875.15 | transcript | ENST00000354200.5 | protein_coding | 3486 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47131070 | C | CCAGCTCT others(12): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 112 | 0.0089 | 19 | c.142 others(40): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D26_chr17_15727283_15749782 | 15730678 | G | GTGTGTGT others(12): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 409 | 0.0024 | 19 | c.-18 others(30): Show |
TBC1D26 | ENSG00000214946.15 | transcript | ENST00000437605.4 | protein_coding | 1604 | chr17 | TogoVar | |||||||
TBC1D26_chr17_15727283_15749782 | 15747774 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 203 | 0.0049 | 19 | c.*31 others(30): Show |
TBC1D26 | ENSG00000214946.15 | transcript | ENST00000437605.4 | protein_coding | 2993 | chr17 | TogoVar | |||||||
TBC1D26_chr17_15727283_15749782 | 15747774 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 203 | 0.0049 | 19 | c.*31 others(30): Show |
TBC1D26 | ENSG00000214946.15 | transcript | ENST00000437605.4 | protein_coding | 2993 | chr17 | TogoVar | |||||||
TBC1D26_chr17_15727283_15749782 | 15747774 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG02273.hp1 HG02293.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 3 | 205 | 0.0146 | 19 | c.*31 others(30): Show |
TBC1D26 | ENSG00000214946.15 | transcript | ENST00000437605.4 | protein_coding | 2993 | chr17 | TogoVar | |||||||
TBC1D26_chr17_15727283_15749782 | 15747774 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 203 | 0.0049 | 19 | c.*31 others(30): Show |
TBC1D26 | ENSG00000214946.15 | transcript | ENST00000437605.4 | protein_coding | 2993 | chr17 | TogoVar | |||||||
TBC1D26_chr17_15727283_15749782 | 15747774 | A | AAAAAAAT others(12): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 203 | 0.0049 | 19 | c.*31 others(30): Show |
TBC1D26 | ENSG00000214946.15 | transcript | ENST00000437605.4 | protein_coding | 2993 | chr17 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77992684 | G | GGTTTGGG others(12): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0205 | 1 | 278 | 0.0036 | 19 | c.*54 others(30): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2300 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77992796 | C | CCCCCCCC others(12): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01123.hp1 HG01123.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0062 a0002c0003t0001g0208 a0002c0003t0001g0233 others(1): Show |
4 | 227 | 0.0176 | 19 | c.*53 others(30): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2188 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77992871 | T | TCCCCCCA others(12): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0004a0002c0003t0001a0003c0004t0005others(1): Show | a0001c0001t0004g0147 a0001c0001t0004g0148 a0002c0003t0001g0191 others(15): Show |
18 | 127 | 0.1417 | 19 | c.*52 others(30): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2113 | chr15 | TogoVar | |||||||
TBC1D2_chr9_98194011_98260649 | 98209756 | T | TTCCTTCC others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02970.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0305 a0003c0004t0001g0306 |
2 | 124 | 0.0161 | 19 | c.167 others(36): Show |
TBC1D2 | ENSG00000095383.20 | transcript | ENST00000465784.7 | protein_coding | 8/12 | chr9 | TogoVar | |||||||
TBC1D2_chr9_98194011_98260649 | 98232342 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01952.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0069 others(19): Show |
22 | 220 | 0.1000 | 19 | c.781 others(36): Show |
TBC1D2 | ENSG00000095383.20 | transcript | ENST00000465784.7 | protein_coding | 4/12 | chr9 | TogoVar | |||||||
TBC1D30_chr12_64819647_64886033 | 64840004 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02895.hp2 others(1): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0013a0002c0006t0002 | a0002c0002t0013g0226 a0002c0006t0002g0234 a0002c0006t0002g0235 others(1): Show |
4 | 52 | 0.0769 | 19 | c.932 others(36): Show |
TBC1D30 | ENSG00000111490.15 | transcript | ENST00000539867.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TBC1D31_chr8_123067707_123157153 | 123139694 | T | TTACACAT others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02976.hp2 HG03195.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0078 a0006c0011t0001g0079 a0006c0011t0001g0080 |
3 | 320 | 0.0094 | 19 | c.250 others(38): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TBC1D31_chr8_123067707_123157153 | 123141439 | G | GATACTGT others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02976.hp2 HG03195.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0078 a0006c0011t0001g0079 a0006c0011t0001g0080 |
3 | 320 | 0.0094 | 19 | c.264 others(36): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TBC1D3I_chr17_36248639_36269570 | 36255005 | G | GGCCCGGG others(12): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0102 | 1 | 168 | 0.0060 | 19 | c.108 others(36): Show |
TBC1D3I | ENSG00000274933.6 | transcript | ENST00000621034.2 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17239670 | T | TAACCACT others(12): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02165.hp2 HG03942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0002g0161 a0001c0001t0003g0158 a0001c0001t0010g0159 others(2): Show |
5 | 160 | 0.0313 | 19 | c.133 others(38): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 16/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17337123 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0100 | 1 | 20 | 0.0500 | 19 | c.996 others(38): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
TBC1D8_chr2_101002228_101156382 | 101054672 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0156 | 1 | 209 | 0.0048 | 19 | c.403 others(34): Show |
TBC1D8 | ENSG00000204634.13 | transcript | ENST00000409318.2 | protein_coding | 3/19 | chr2 | TogoVar | |||||||
TBC1D9B_chr5_179857071_179912897 | 179881946 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 HG02976.hp2 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0011a0002c0006a0004c0009others(1): Show | a0001c0011t0001a0002c0006t0001a0004c0009t0005others(1): Show | a0001c0011t0001g0145 a0002c0006t0001g0141 a0004c0009t0005g0123 others(1): Show |
4 | 303 | 0.0132 | 19 | c.125 others(38): Show |
TBC1D9B | ENSG00000197226.13 | transcript | ENST00000355235.8 | protein_coding | 7/20 | chr5 | TogoVar | |||||||
TBCB_chr19_36110468_36130941 | 36126727 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 131 | 0.0076 | 19 | c.*94 others(28): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 787 | chr19 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82751103 | T | TCCCCCGT others(12): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 123 | 0.0081 | 19 | c.-10 others(30): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 961 | chr17 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82751576 | G | GCCCCCGC others(12): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01346.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0002a0001c0001t0025a0001c0002t0010others(2): Show | a0001c0001t0002g0095 a0001c0001t0025g0020 a0001c0002t0010g0084 others(3): Show |
6 | 190 | 0.0316 | 19 | c.-61 others(28): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 488 | chr17 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82758384 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02965.hp2 NA18970.hp1 |
a0002a0004a0006 | a0002c0006a0004c0005a0006c0038 | a0002c0006t0005a0004c0005t0001a0006c0038t0005 | a0002c0006t0005g0116 a0004c0005t0001g0087 a0006c0038t0005g0117 |
3 | 102 | 0.0294 | 19 | c.235 others(36): 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(12): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0013 | 1 | 100 | 0.0100 | 19 | c.235 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 2/38 | chr17 | TogoVar |