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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TOM1L2_chr17_17838511_17977400 | 17903990 | G | GATTATTA others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0158 a0001c0001t0009g0159 |
2 | 240 | 0.0083 | 12 | c.137 others(29): Show |
TOM1L2 | ENSG00000175662.18 | transcript | ENST00000379504.8 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
TOM1L2_chr17_17838511_17977400 | 17913258 | C | CGGGAGAG others(5): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02056.hp1 HG02135.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 others(10): Show |
13 | 240 | 0.0542 | 12 | c.53- others(27): Show |
TOM1L2 | ENSG00000175662.18 | transcript | ENST00000379504.8 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
TOM1_chr22_35294894_35352973 | 35303131 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03017.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0064 others(3): Show |
6 | 358 | 0.0168 | 12 | c.52+ others(27): Show |
TOM1 | ENSG00000100284.22 | transcript | ENST00000449058.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TOM1_chr22_35294894_35352973 | 35310727 | G | GGTACTGC others(5): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 358 | 0.0028 | 12 | c.53- others(27): Show |
TOM1 | ENSG00000100284.22 | transcript | ENST00000449058.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TOM1_chr22_35294894_35352973 | 35320987 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 358 | 0.0028 | 12 | c.138 others(27): Show |
TOM1 | ENSG00000100284.22 | transcript | ENST00000449058.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TOMM20L_chr14_58390930_58413702 | 58392259 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 HG03139.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0110 a0003c0002t0001g0280 |
2 | 362 | 0.0055 | 12 | c.-36 others(23): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 3670 | chr14 | TogoVar | |||||||
TOMM20L_chr14_58390930_58413702 | 58394205 | A | ATTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 362 | 0.0028 | 12 | c.-17 others(23): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 1724 | chr14 | TogoVar | |||||||
TOMM20L_chr14_58390930_58413702 | 58394207 | A | ATTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0133 |
2 | 362 | 0.0055 | 12 | c.-17 others(23): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 1722 | chr14 | TogoVar | |||||||
TOMM20L_chr14_58390930_58413702 | 58394209 | A | ATTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG01517.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0082 others(5): Show |
8 | 362 | 0.0221 | 12 | c.-17 others(23): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 1720 | chr14 | TogoVar | |||||||
TOMM20L_chr14_58390930_58413702 | 58394211 | A | ATTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02071.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0077 a0001c0001t0001g0204 others(2): Show |
5 | 362 | 0.0138 | 12 | c.-17 others(23): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 1718 | chr14 | TogoVar | |||||||
TOMM20L_chr14_58390930_58413702 | 58394213 | A | ATATATAT others(5): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 362 | 0.0028 | 12 | c.-17 others(23): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 1716 | chr14 | TogoVar | |||||||
TOMM20L_chr14_58390930_58413702 | 58394213 | A | ATATATTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01993.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0297 a0001c0001t0001g0335 |
3 | 362 | 0.0083 | 12 | c.-17 others(23): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 1716 | chr14 | TogoVar | |||||||
TOMM20L_chr14_58390930_58413702 | 58394213 | A | ATATTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01169.hp2 HG03704.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0140 a0001c0001t0001g0196 others(2): Show |
5 | 362 | 0.0138 | 12 | c.-17 others(23): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 1716 | chr14 | TogoVar | |||||||
TOMM20L_chr14_58390930_58413702 | 58394213 | A | ATTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 NA18999.hp1 NA19000.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0143 a0001c0001t0001g0155 others(1): Show |
4 | 362 | 0.0111 | 12 | c.-17 others(23): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 1716 | chr14 | TogoVar | |||||||
TOMM20L_chr14_58390930_58413702 | 58399885 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 362 | 0.0028 | 12 | c.181 others(29): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TOMM20L_chr14_58390930_58413702 | 58404099 | G | GTGTGTAT others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18971.hp2 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0001g0112 |
3 | 362 | 0.0083 | 12 | c.262 others(29): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TOMM20L_chr14_58390930_58413702 | 58404099 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 362 | 0.0028 | 12 | c.262 others(29): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TOMM20L_chr14_58390930_58413702 | 58404119 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18959.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0112 a0001c0001t0001g0286 |
3 | 362 | 0.0083 | 12 | c.262 others(29): Show |
TOMM20L | ENSG00000196860.8 | transcript | ENST00000360945.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TOMM20_chr1_235104341_235133837 | 235104824 | T | TACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02056.hp2 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0031 a0001c0001t0002g0068 |
3 | 398 | 0.0075 | 12 | c.*72 others(23): Show |
TOMM20 | ENSG00000173726.11 | transcript | ENST00000366607.5 | protein_coding | 4516 | chr1 | TogoVar | |||||||
TOMM22_chr22_38676957_38690421 | 38689912 | C | CTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01175.hp2 HG01243.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0003g0004 a0001c0001t0004g0001 others(3): Show |
13 | 384 | 0.0339 | 12 | c.*60 others(23): Show |
TOMM22 | ENSG00000100216.6 | transcript | ENST00000216034.6 | protein_coding | 4492 | chr22 | TogoVar | |||||||
TOMM34_chr20_44937130_44965397 | 44958146 | G | GTATATGT others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0094 |
5 | 414 | 0.0121 | 12 | c.128 others(29): Show |
TOMM34 | ENSG00000025772.8 | transcript | ENST00000372813.4 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
TOMM70_chr3_100358431_100406089 | 100387579 | A | AAGACACA others(5): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0200 | 1 | 398 | 0.0025 | 12 | c.325 others(27): Show |
TOMM70 | ENSG00000154174.8 | transcript | ENST00000284320.6 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
TOMM70_chr3_100358431_100406089 | 100387599 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 NA19067.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 a0001c0001t0002g0238 a0001c0001t0002g0240 |
3 | 398 | 0.0075 | 12 | c.325 others(27): Show |
TOMM70 | ENSG00000154174.8 | transcript | ENST00000284320.6 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
TOMM7_chr7_22807974_22827849 | 22827781 | G | GCTGATCA others(5): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 420 | 0.0024 | 12 | c.-50 others(23): Show |
TOMM7 | ENSG00000196683.12 | transcript | ENST00000358435.9 | protein_coding | 4933 | chr7 | TogoVar | |||||||
TOP1_chr20_41023822_41129487 | 41059409 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02027.hp1 HG02129.hp2 others(9): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0001a0006c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0128 a0001c0001t0001g0151 others(8): Show |
12 | 380 | 0.0316 | 12 | c.59- others(27): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOP1_chr20_41023822_41129487 | 41067075 | C | CCAAAGAG others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 380 | 0.0026 | 12 | c.155 others(29): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOP1_chr20_41023822_41129487 | 41089020 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 380 | 0.0026 | 12 | c.615 others(29): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TOP1_chr20_41023822_41129487 | 41127412 | G | GTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0009 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0154 others(5): Show |
8 | 380 | 0.0211 | 12 | c.*41 others(23): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 2926 | chr20 | TogoVar | |||||||
TOP2A_chr17_40383525_40422896 | 40409194 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG06807.hp2 NA21309.hp2 |
a0002a0010 | a0002c0004a0010c0013 | a0002c0004t0001a0010c0013t0004 | a0002c0004t0001g0169 a0010c0013t0004g0167 |
2 | 258 | 0.0078 | 12 | c.120 others(29): Show |
TOP2A | ENSG00000131747.15 | transcript | ENST00000423485.6 | protein_coding | 10/34 | chr17 | TogoVar | |||||||
TOP2B_chr3_25592984_25669907 | 25638314 | T | TAAAAAAA others(5): Show |
splice_region_variant others(1): Show |
LOW | HG03540.hp1 NA20300.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0145 a0001c0004t0002g0147 |
2 | 310 | 0.0065 | 12 | c.396 others(24): Show |
TOP2B | ENSG00000077097.17 | transcript | ENST00000264331.9 | protein_coding | 4/35 | chr3 | TogoVar | |||||||
TOP3A_chr17_18266428_18319994 | 18288131 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00733.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0039a0001c0001t0041 | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(6): Show |
16 | 388 | 0.0412 | 12 | c.159 others(31): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
TOP3A_chr17_18266428_18319994 | 18305475 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG01169.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0010 a0001c0002t0004g0042 a0001c0002t0004g0047 others(16): Show |
20 | 388 | 0.0516 | 12 | c.391 others(27): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 4/18 | chr17 | TogoVar | |||||||
TOP3A_chr17_18266428_18319994 | 18308223 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 388 | 0.0026 | 12 | c.314 others(27): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 3/18 | chr17 | TogoVar | |||||||
TOP3B_chr22_21952025_21987787 | 21983173 | G | GTTATTTA others(5): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01258.hp1 HG02109.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0038 others(14): Show |
22 | 348 | 0.0632 | 12 | c.-54 others(21): Show |
TOP3B | ENSG00000100038.20 | transcript | ENST00000357179.10 | protein_coding | 387 | chr22 | TogoVar | |||||||
TOP3B_chr22_21952025_21987787 | 21983918 | G | GTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 NA21309.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0034 | 2 | 348 | 0.0058 | 12 | c.-12 others(23): Show |
TOP3B | ENSG00000100038.20 | transcript | ENST00000357179.10 | protein_coding | 1132 | chr22 | TogoVar | |||||||
TOPAZ1_chr3_44236886_44337098 | 44257352 | G | GGGGTGTG others(5): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02922.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0113 a0003c0003t0002g0222 |
2 | 258 | 0.0078 | 12 | c.295 others(31): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44257352 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0206 | 1 | 258 | 0.0039 | 12 | c.295 others(31): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44257381 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0013 | a0013c0021 | a0013c0021t0001 | a0013c0021t0001g0181 | 1 | 258 | 0.0039 | 12 | c.295 others(31): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44269471 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG02486.hp1 others(3): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0115 a0002c0002t0001g0127 a0002c0002t0001g0156 others(3): Show |
6 | 258 | 0.0233 | 12 | c.324 others(29): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44298891 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 NA19057.hp1 |
a0002a0003 | a0002c0006a0003c0003 | a0002c0006t0001a0003c0003t0002 | a0002c0006t0001g0250 a0003c0003t0002g0187 a0003c0003t0002g0227 |
3 | 258 | 0.0116 | 12 | c.379 others(31): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44298909 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA18986.hp1 NA19056.hp1 NA21309.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0230 a0003c0003t0002g0232 a0003c0003t0002g0244 |
3 | 258 | 0.0116 | 12 | c.379 others(31): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44298909 | A | ATATATTT others(5): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0185 | 1 | 258 | 0.0039 | 12 | c.379 others(31): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44298909 | A | ATATTTTT others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0184 | 1 | 258 | 0.0039 | 12 | c.379 others(31): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44315105 | G | GTGGATGG others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(81): Show |
a0001a0006a0007others(4): Show | a0001c0001a0001c0016a0001c0017others(6): Show | a0001c0001t0001a0001c0016t0001a0001c0017t0001others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0023 others(80): Show |
84 | 258 | 0.3256 | 12 | c.430 others(31): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TOR1AIP1_chr1_179877285_179925076 | 179907593 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0183 a0001c0002t0001g0186 a0001c0002t0007g0029 others(1): Show |
5 | 290 | 0.0172 | 12 | c.797 others(27): Show |
TOR1AIP1 | ENSG00000143337.19 | transcript | ENST00000606911.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TOR1AIP2_chr1_179834976_179882803 | 179840889 | T | TATAATAA others(5): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02486.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0033a0001c0002t0022 | a0001c0001t0005g0005 a0001c0001t0005g0017 a0001c0001t0005g0035 others(4): Show |
14 | 280 | 0.0500 | 12 | c.*51 others(23): Show |
TOR1AIP2 | ENSG00000169905.13 | transcript | ENST00000609928.6 | protein_coding | 7/7 | 5181 | chr1 | TogoVar | ||||||
TOR1A_chr9_129807942_129829136 | 129823490 | C | CCCCCAGC others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02165.hp2 NA18943.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0050 others(3): Show |
16 | 384 | 0.0417 | 12 | c.178 others(27): Show |
TOR1A | ENSG00000136827.12 | transcript | ENST00000351698.5 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
TOR1A_chr9_129807942_129829136 | 129824606 | A | AAATAATA others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(34): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0037 others(18): Show |
37 | 384 | 0.0964 | 12 | c.-52 others(21): Show |
TOR1A | ENSG00000136827.12 | transcript | ENST00000351698.5 | protein_coding | 471 | chr9 | TogoVar | |||||||
TOR3A_chr1_179077070_179100996 | 179083581 | C | CGGGGGGG others(5): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0143 | 1 | 418 | 0.0024 | 12 | c.373 others(27): Show |
TOR3A | ENSG00000186283.14 | transcript | ENST00000367627.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TOR3A_chr1_179077070_179100996 | 179083595 | G | GGGGGGGG others(5): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0134 | 1 | 418 | 0.0024 | 12 | c.373 others(27): Show |
TOR3A | ENSG00000186283.14 | transcript | ENST00000367627.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |