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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAVIN3_chr11_6313946_6325501 | 6320449 | GCCCCCGC others(3): Show |
G | frameshift_variant | HIGH | HG01243.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0018 | 1 | 426 | 0.0024 | -10 | c.18_ others(15): Show |
p.Leu others(3): Show |
CAVIN3 | ENSG00000170955.10 | transcript | ENST00000303927.4 | protein_coding | 1/2 | 52/1028 | 18/786 | 6/261 | chr11 | TogoVar | |||
CAVIN4_chr9_100573079_100593389 | 100589587 | CGTGTGTG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp2 NA18522.hp1 NA19030.hp2 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0019 | a0001c0001t0001g0052 a0001c0001t0001g0060 a0007c0009t0019g0048 |
3 | 382 | 0.0079 | -10 | c.*31 others(21): Show |
CAVIN4 | ENSG00000170681.7 | transcript | ENST00000307584.6 | protein_coding | 1199 | chr9 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33494243 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0032 | a0001c0001t0015g0014 a0001c0001t0015g0015 a0001c0001t0015g0016 others(1): Show |
4 | 298 | 0.0134 | -10 | c.34+ others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33494269 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 298 | 0.0034 | -10 | c.34+ others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33500791 | TCAGGGGT others(3): Show |
T | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0230 | 1 | 298 | 0.0034 | -10 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33520970 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0114 | 1 | 298 | 0.0034 | -10 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33529743 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02145.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0113 others(11): Show |
14 | 298 | 0.0470 | -10 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33544945 | CAGAATAG others(3): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01175.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0237 a0001c0001t0001g0253 a0001c0001t0001g0276 others(36): Show |
39 | 298 | 0.1309 | -10 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33545005 | TAGAATAG others(3): Show |
T | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0052 | 1 | 298 | 0.0034 | -10 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33557004 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 298 | 0.0034 | -10 | c.35- others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33587256 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0014 a0001c0001t0015g0015 a0001c0001t0015g0016 |
3 | 298 | 0.0101 | -10 | c.35- others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33634670 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0011g0062 others(3): Show |
6 | 298 | 0.0201 | -10 | c.122 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642108 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018a0001c0001t0036 | a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0018g0120 others(2): Show |
5 | 298 | 0.0168 | -10 | c.148 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642110 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0276 a0001c0001t0010g0114 |
2 | 298 | 0.0067 | -10 | c.148 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642112 | TTTTTTGT others(3): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03516.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0113 a0001c0001t0005g0136 a0001c0001t0005g0138 |
3 | 298 | 0.0101 | -10 | c.148 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642114 | TTTTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp1 HG02897.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0145 others(6): Show |
9 | 298 | 0.0302 | -10 | c.148 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642116 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG02145.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0079 a0001c0001t0005g0133 a0001c0001t0006g0095 |
3 | 298 | 0.0101 | -10 | c.148 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33643753 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0018a0001c0002t0002others(1): Show | a0001c0001t0007g0008 a0001c0001t0018g0120 a0001c0001t0018g0121 others(2): Show |
5 | 298 | 0.0168 | -10 | c.148 others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88908983 | CTCTCCGT others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0088 a0001c0001t0001g0117 a0001c0002t0003g0087 |
3 | 284 | 0.0106 | -10 | c.152 others(27): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88910959 | GGCGCTGC others(3): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0080 a0001c0001t0001g0088 others(14): Show |
17 | 284 | 0.0599 | -10 | c.152 others(27): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88932791 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0093 | 1 | 284 | 0.0035 | -10 | c.152 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67055357 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 212 | 0.0047 | -10 | c.283 others(29): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105665408 | AATAAATA others(3): Show |
A | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0328 | 1 | 380 | 0.0026 | -10 | c.268 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105665412 | AATAAATA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01168.hp2 others(10): Show |
a0001a0010 | a0001c0001a0010c0024 | a0001c0001t0004a0001c0001t0040a0010c0024t0004 | a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 others(10): Show |
13 | 380 | 0.0342 | -10 | c.268 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105665416 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0110 | 1 | 380 | 0.0026 | -10 | c.268 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105665436 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0033 | a0001c0001t0003g0117 a0001c0001t0033g0161 |
2 | 380 | 0.0053 | -10 | c.268 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754513 | GAGAGAGA others(3): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0011a0001c0007t0013 | a0001c0001t0011g0050 a0001c0007t0013g0373 a0001c0007t0013g0374 others(3): Show |
6 | 380 | 0.0158 | -10 | c.567 others(27): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754523 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0004 | 1 | 380 | 0.0026 | -10 | c.567 others(27): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105829666 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 380 | 0.0026 | -10 | c.419 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44784950 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG02109.hp2 HG02723.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0001c0009others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0265 a0001c0008t0001g0015 a0001c0008t0001g0056 others(6): Show |
11 | 344 | 0.0320 | -10 | c.917 others(25): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44794457 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(6): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0018 a0001c0001t0001g0075 a0001c0001t0001g0125 others(5): Show |
9 | 344 | 0.0262 | -10 | c.136 others(27): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44800477 | GCCCACTC others(3): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 NA19043.hp2 |
a0001a0010 | a0001c0006a0001c0009a0010c0019 | a0001c0006t0001a0001c0009t0001a0010c0019t0001 | a0001c0006t0001g0047 a0001c0009t0001g0073 a0010c0019t0001g0060 |
3 | 344 | 0.0087 | -10 | c.*7+ others(21): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44800787 | CAGCCCCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0029 | 1 | 344 | 0.0029 | -10 | c.*24 others(19): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 136 | chr19 | TogoVar | |||||||
CBLL1_chr7_107739142_107766667 | 107740568 | TTTTCATG others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0041 | 1 | 432 | 0.0023 | -10 | c.-35 others(21): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 3573 | chr7 | TogoVar | |||||||
CBLL1_chr7_107739142_107766667 | 107764446 | TTGTGTGT others(3): Show |
T | downstream_gene_variant | MODIFIER | NA18978.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
2 | 432 | 0.0046 | -10 | c.*52 others(21): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 2780 | chr7 | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22267927 | GAAAAAAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0003t0001g0000 |
7 | 346 | 0.0202 | -10 | c.-50 others(21): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 4985 | chrX | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22271143 | GAAAAAAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01433.hp1 HG02015.hp1 HG03669.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
3 | 346 | 0.0087 | -10 | c.-18 others(21): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1769 | chrX | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22271960 | GTTTTTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02257.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0002c0003t0001a0003c0005t0001 | a0001c0001t0001g0000 a0002c0003t0001g0000 a0003c0005t0001g0000 |
5 | 346 | 0.0145 | -10 | c.-10 others(21): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22277490 | ACTCATAA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 346 | 0.0029 | -10 | c.*32 others(21): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 3030 | chrX | TogoVar | |||||||
CBLN2_chr18_72531681_72549342 | 72542909 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02257.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007a0001c0002t0012others(2): Show | a0001c0001t0001g0050 a0001c0002t0007g0052 a0001c0002t0012g0031 others(2): Show |
8 | 416 | 0.0192 | -10 | c.-16 others(27): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 2/4 | chr18 | TogoVar | |||||||
CBLN2_chr18_72531681_72549342 | 72547110 | TCACACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01358.hp1 HG01496.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0010 others(9): Show |
14 | 416 | 0.0337 | -10 | c.-33 others(21): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 2769 | chr18 | TogoVar | |||||||
CBLN3_chr14_24421545_24434668 | 24432657 | CTGAGGGG others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 452 | 0.0022 | -10 | c.-36 others(21): Show |
CBLN3 | ENSG00000139899.11 | transcript | ENST00000267406.11 | protein_coding | 2990 | chr14 | TogoVar | |||||||
CBLN4_chr20_55992357_56010519 | 55993451 | CATGTATA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 426 | 0.0024 | -10 | c.*50 others(21): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 3905 | chr20 | TogoVar | |||||||
CBLN4_chr20_55992357_56010519 | 56006967 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014 | a0001c0001t0009g0077 a0001c0001t0014g0023 |
2 | 426 | 0.0047 | -10 | c.-28 others(21): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 1449 | chr20 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119207567 | TTTGTCAT others(3): Show |
T | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0017 | 1 | 364 | 0.0028 | -10 | c.195 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119245956 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG02055.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(1): Show | a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0189 others(8): Show |
11 | 364 | 0.0302 | -10 | c.443 others(29): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119263646 | CGTTTTGT others(3): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0014 | 1 | 364 | 0.0028 | -10 | c.444 others(27): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119264388 | TTTCTCTT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp2 others(36): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0139 a0001c0001t0001g0140 others(36): Show |
39 | 364 | 0.1071 | -10 | c.444 others(27): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119270436 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0058 | a0001c0001t0001g0010 a0001c0001t0058g0015 |
2 | 364 | 0.0055 | -10 | c.444 others(27): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119277239 | GCGCACAC others(3): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0340 | 1 | 364 | 0.0028 | -10 | c.100 others(27): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |