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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5225): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 307 | 0.0033 | 5232 | c.327 others(5249): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0034 | a0004c0034t0025 | a0004c0034t0025g0194 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0189 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG03942.hp1 NA19060.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0096 a0002c0002t0003g0152 |
2 | 92 | 0.0217 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01993.hp2 HG02293.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0005others(4): Show | a0001c0001t0001g0029 a0001c0001t0004g0066 a0001c0003t0005g0076 others(6): Show |
9 | 99 | 0.0909 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0116 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG01069.hp1 others(35): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0028 others(35): Show |
38 | 128 | 0.2969 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0008 | a0008c0045 | a0008c0045t0008 | a0008c0045t0008g0085 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02071.hp1 HG02165.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0002others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0074 a0001c0001t0001g0082 others(6): Show |
9 | 99 | 0.0909 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0078 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0036 | a0001c0036t0004 | a0001c0036t0004g0014 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0121 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18970.hp1 NA19066.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0068 a0001c0001t0001g0138 a0002c0002t0002g0019 |
3 | 93 | 0.0323 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0007 | a0004c0007t0014 | a0004c0007t0014g0113 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0102 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0025 | a0001c0025t0012 | a0001c0025t0012g0217 | 1 | 91 | 0.0110 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0003a0001c0001t0015a0001c0018t0008 | a0001c0001t0003g0198 a0001c0001t0015g0045 a0001c0001t0015g0046 others(1): Show |
4 | 94 | 0.0426 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5226): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG01516.hp1 others(8): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(7): Show | a0001c0001t0001g0180 a0001c0001t0005g0179 a0001c0003t0003g0088 others(8): Show |
11 | 101 | 0.1089 | 5233 | c.188 others(5252): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0006 | a0005c0006t0016 | a0005c0006t0016g0158 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0037 | a0002c0037t0004 | a0002c0037t0004g0043 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0049 | a0004c0049t0014 | a0004c0049t0014g0190 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02080.hp2 HG02293.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(2): Show | a0001c0001t0001g0034 a0001c0001t0003g0063 a0001c0001t0021g0178 others(2): Show |
5 | 95 | 0.0526 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01516.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0004g0133 others(9): Show |
12 | 102 | 0.1176 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG02717.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0001c0027others(4): Show | a0001c0001t0009a0001c0011t0003a0001c0027t0004others(4): Show | a0001c0001t0009g0161 a0001c0011t0003g0107 a0001c0027t0004g0026 others(4): Show |
7 | 97 | 0.0722 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0031 | a0031c0060 | a0031c0060t0005 | a0031c0060t0005g0220 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0012 | a0012c0015 | a0012c0015t0003 | a0012c0015t0003g0041 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18906.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0009a0003c0005t0010 | a0001c0001t0009g0199 a0003c0005t0010g0193 |
2 | 92 | 0.0217 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5227): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 91 | 0.0110 | 5234 | c.188 others(5253): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33633229 | G | GGAAAAGT others(5228): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0030 | a0030c0032 | a0030c0032t0002 | a0030c0032t0002g0168 | 1 | 91 | 0.0110 | 5235 | c.188 others(5254): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23973057 | G | GTTCCCAG others(5228): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0005 | 1 | 266 | 0.0038 | 5235 | c.*41 others(5246): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3779 | chr14 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364456 | C | CACACCCA others(5229): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0039 | 1 | 205 | 0.0049 | 5236 | c.129 others(5253): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251202 | A | ACACATCC others(5232): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0015 | 1 | 7 | 0.1429 | 5239 | c.207 others(5258): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364513 | A | ACACCCAC others(5233): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0238 | 1 | 263 | 0.0038 | 5240 | c.129 others(5257): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693570 | T | TCCACCTC others(5233): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0051 | 1 | 39 | 0.0256 | 5240 | c.299 others(5257): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(5234): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0165 | 1 | 271 | 0.0037 | 5241 | c.118 others(5260): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5236): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0304 | 1 | 173 | 0.0058 | 5243 | c.127 others(5260): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5236): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 55 | 0.0182 | 5243 | c.891 others(5258): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125814025 | A | ATGGTGGG others(5237): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 25 | 0.0400 | 5244 | c.274 others(5263): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132242159 | A | ACCCTTCC others(5238): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0139 | 1 | 154 | 0.0065 | 5245 | c.107 others(5264): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5238): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 5245 | c.-45 others(5254): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125814025 | A | ATGGTGGG others(5238): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03225.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0183 others(1): Show |
4 | 28 | 0.1429 | 5245 | c.274 others(5264): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |