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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CATSPERE_chr1_244456273_244645504 | 244573412 | AAAAAC | A | intron_variant | MODIFIER | HG00741.hp1 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001a0007a0008 | a0001c0002a0001c0003a0007c0010others(1): Show | a0001c0002t0001a0001c0003t0001a0007c0010t0001others(1): Show | a0001c0002t0001g0088 a0001c0003t0001g0044 a0007c0010t0001g0137 others(2): Show |
5 | 142 | 0.0352 | -5 | c.195 others(22): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621077 | ATATAT | A | intron_variant | MODIFIER | HG01934.hp1 HG03471.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0051 a0001c0002t0001g0088 a0001c0002t0002g0004 |
3 | 204 | 0.0147 | -5 | c.264 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | chr1 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244621134 | TATAAA | T | intron_variant | MODIFIER | HG00741.hp1 NA18612.hp2 NA18945.hp1 |
a0001a0008 | a0001c0002a0001c0018a0008c0024 | a0001c0002t0003a0001c0018t0003a0008c0024t0001 | a0001c0002t0003g0143 a0001c0018t0003g0142 a0008c0024t0001g0081 |
3 | 204 | 0.0147 | -5 | c.264 others(24): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAT_chr11_34433934_34477060 | 34475997 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0001g0067 a0001c0001t0002g0034 others(3): Show |
6 | 80 | 0.0750 | -5 | c.*45 others(16): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 3938 | chr11 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116533348 | TAAATA | T | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG00738.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(22): Show |
35 | 112 | 0.3125 | -5 | c.195 others(22): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116536288 | ATTTAT | A | intron_variant | MODIFIER | HG01433.hp1 HG02615.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0001 | a0001c0001t0001g0081 a0001c0001t0014g0202 a0001c0002t0001g0035 others(5): Show |
9 | 340 | 0.0265 | -5 | c.195 others(22): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116555479 | GAAAGA | G | intron_variant | MODIFIER | HG01928.hp2 HG02818.hp2 HG03540.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0148 a0001c0001t0003g0158 a0001c0001t0003g0159 others(5): Show |
8 | 340 | 0.0235 | -5 | c.196 others(22): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV3_chr3_8728802_8751758 | 8744445 | ATTTTT | A | intron_variant | MODIFIER | HG01175.hp1 HG01346.hp1 HG01433.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0066 a0001c0003t0003g0027 a0001c0003t0003g0028 others(3): Show |
10 | 309 | 0.0324 | -5 | c.115 others(22): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAVIN3_chr11_6313946_6325501 | 6318703 | AAACAC | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00621.hp1 others(43): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0002c0001others(2): Show | a0001c0003t0001a0001c0004t0001a0002c0001t0001others(2): Show | a0001c0003t0001g0003 a0001c0004t0001g0004 a0002c0001t0001g0001 others(2): Show |
46 | 424 | 0.1085 | -5 | c.*45 others(14): Show |
CAVIN3 | ENSG00000170955.10 | transcript | ENST00000303927.4 | protein_coding | 242 | chr11 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33494264 | TATATA | T | intron_variant | MODIFIER | HG00558.hp2 HG02083.hp1 HG02698.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0021 | a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0235 others(3): Show |
6 | 295 | 0.0203 | -5 | c.34+ others(20): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33494266 | TATATA | T | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01256.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0042others(1): Show | a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0225 others(13): Show |
16 | 281 | 0.0569 | -5 | c.34+ others(20): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33494268 | TATATA | T | intron_variant | MODIFIER | HG02300.hp2 HG02970.hp2 HG04228.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0003g0146 others(3): Show |
6 | 252 | 0.0238 | -5 | c.34+ others(20): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33494269 | ATATAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG01123.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0006a0001c0004t0044 | a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0137 others(3): Show |
6 | 256 | 0.0234 | -5 | c.34+ others(20): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33535651 | ATTTAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0013others(1): Show | a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 others(9): Show |
12 | 296 | 0.0405 | -5 | c.34+ others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33544945 | CAGAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(70): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0003g0071 others(70): Show |
73 | 126 | 0.5794 | -5 | c.34+ others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33554558 | TTTTTC | T | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(16): Show |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0030others(3): Show | a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0004g0017 others(16): Show |
19 | 291 | 0.0653 | -5 | c.35- others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33559172 | CTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG02809.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0004 others(3): Show |
6 | 158 | 0.0380 | -5 | c.35- others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33587256 | TTTTTG | T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(66): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0021a0001c0001t0033others(6): Show | a0001c0001t0001g0159 a0001c0001t0001g0198 a0001c0001t0001g0220 others(66): Show |
69 | 293 | 0.2355 | -5 | c.35- others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33596239 | CAGTTA | C | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01496.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 others(11): Show |
14 | 296 | 0.0473 | -5 | c.35- others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | CTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp1 HG02486.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0007a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0007g0067 a0001c0001t0011g0062 a0001c0001t0011g0063 others(7): Show |
10 | 77 | 0.1299 | -5 | c.510 others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33650000 | TTAAAG | T | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0011g0064 others(1): Show |
4 | 296 | 0.0135 | -5 | c.*53 others(16): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 11/11 | 5357 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33652534 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG01169.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0128 others(12): Show |
15 | 22 | 0.6818 | -5 | c.*78 others(16): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 2505 | chr20 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67039643 | AATTCT | A | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG02074.hp1 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0014 | a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0038 others(18): Show |
21 | 210 | 0.1000 | -5 | c.282 others(22): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67055357 | CTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 others(10): Show |
13 | 120 | 0.1083 | -5 | c.283 others(24): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67084165 | CAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG02074.hp1 HG02080.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0044 others(3): Show |
6 | 32 | 0.1875 | -5 | c.495 others(22): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67092698 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02074.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0006 | a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0081 others(8): Show |
11 | 21 | 0.5238 | -5 | c.496 others(22): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105726409 | GAATTA | G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0372 a0001c0007t0013g0373 a0001c0007t0013g0374 others(2): Show |
5 | 378 | 0.0132 | -5 | c.120 others(24): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 9/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105782578 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG02080.hp2 NA18951.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0286 a0001c0002t0008g0287 a0001c0002t0008g0288 others(11): Show |
14 | 278 | 0.0504 | -5 | c.420 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105829666 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(130): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0055 others(130): Show |
133 | 140 | 0.9500 | -5 | c.419 others(24): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44774945 | TTTTTG | T | upstream_gene_variant | MODIFIER | HG02809.hp1 HG03209.hp2 HG03453.hp2 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0062 a0003c0003t0001g0082 a0004c0004t0001g0093 |
3 | 303 | 0.0099 | -5 | c.-29 others(16): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 2944 | chr19 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59828824 | ATATAT | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG02559.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0061 a0002c0002t0001g0189 a0002c0002t0001g0191 others(9): Show |
12 | 340 | 0.0353 | -5 | c.*65 others(14): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 448 | chr11 | TogoVar | |||||||
CBLL1_chr7_107739142_107766667 | 107760903 | TTTTTG | T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(121): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0018others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0013 others(19): Show |
124 | 430 | 0.2884 | -5 | c.*17 others(16): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 6/6 | 1730 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CBLL2_chrX_22267913_22279461 | 22271143 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02886.hp1 HG03225.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0003t0001g0000 |
6 | 133 | 0.0451 | -5 | c.-18 others(16): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1769 | chrX | TogoVar | |||||||
CBLN3_chr14_24421545_24434668 | 24430216 | GGGCCC | G | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02165.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 3 | 450 | 0.0067 | -5 | c.-11 others(16): Show |
CBLN3 | ENSG00000139899.11 | transcript | ENST00000267406.11 | protein_coding | 549 | chr14 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119251824 | TTACTC | T | intron_variant | MODIFIER | HG01952.hp2 NA19007.hp2 NA19081.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0008c0011t0002 | a0001c0001t0002g0281 a0001c0001t0002g0292 a0001c0001t0002g0298 others(1): Show |
4 | 362 | 0.0110 | -5 | c.443 others(24): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119259451 | ATTTAC | A | intron_variant | MODIFIER | HG00408.hp1 HG01952.hp2 HG02004.hp1 others(6): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0008c0011t0002 | a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0281 others(6): Show |
9 | 362 | 0.0249 | -5 | c.444 others(24): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119264388 | TTTCTC | T | intron_variant | MODIFIER | HG00741.hp1 HG02055.hp1 HG02451.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(7): Show | a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0147 others(16): Show |
19 | 169 | 0.1124 | -5 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119264438 | CTTCTT | C | intron_variant | MODIFIER | NA18963.hp1 NA18964.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0160 a0001c0001t0011g0172 a0001c0001t0011g0178 |
3 | 352 | 0.0085 | -5 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119264442 | TTTCTC | T | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG02145.hp1 others(27): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(9): Show | a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 others(27): Show |
30 | 355 | 0.0845 | -5 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36133766 | TAAAAA | T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02165.hp1 HG02257.hp2 others(18): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0012 | a0001c0001t0001a0002c0002t0001a0006c0012t0001 | a0001c0001t0001g0166 a0002c0002t0001g0004 a0002c0002t0001g0024 others(17): Show |
21 | 69 | 0.3043 | -5 | c.-14 others(16): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1312 | chr21 | TogoVar | |||||||
CBR3_chr21_36130079_36151562 | 36137027 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01175.hp1 others(13): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0012 a0005c0005t0001g0021 a0005c0005t0001g0022 others(5): Show |
16 | 75 | 0.2133 | -5 | c.290 others(20): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBS_chr21_43048191_43080835 | 43053772 | TGCCAG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0002c0003t0004 | a0001c0001t0008g0034 a0002c0003t0004g0010 a0002c0003t0004g0011 others(19): Show |
32 | 298 | 0.1074 | -5 | c.*10 others(14): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 103 | chr21 | TogoVar | ||||||
CBS_chr21_43048191_43080835 | 43077083 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02622.hp1 HG02630.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0001others(4): Show | a0001c0001t0003g0084 a0001c0001t0003g0153 a0001c0001t0003g0154 others(10): Show |
16 | 37 | 0.4324 | -5 | c.-14 others(16): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1249 | chr21 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48093085 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00741.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0125 a0001c0001t0001g0126 others(32): Show |
41 | 394 | 0.1041 | -5 | c.-38 others(22): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX3_chr7_26196745_26218607 | 26217320 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(18): Show |
29 | 58 | 0.5000 | -5 | c.*51 others(16): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 3714 | chr7 | TogoVar | |||||||
CBX5_chr12_54225942_54285122 | 54250811 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(146): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(38): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(131): Show |
149 | 181 | 0.8232 | -5 | c.324 others(22): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 3/4 | chr12 | TogoVar | |||||||
CBX6_chr22_38856422_38877216 | 38862541 | AAAAAG | A | 3_prime_UTR_variant | MODIFIER | HG02056.hp2 HG02074.hp2 HG02135.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026a0001c0001t0064others(1): Show | a0001c0001t0005g0008 a0001c0001t0005g0019 a0001c0001t0005g0144 others(3): Show |
12 | 404 | 0.0297 | -5 | c.*36 others(16): Show |
CBX6 | ENSG00000183741.12 | transcript | ENST00000407418.8 | protein_coding | 5/5 | 3663 | chr22 | TogoVar | ||||||
CBY1_chr22_38651638_38678850 | 38678831 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(98): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 others(47): Show |
101 | 273 | 0.3700 | -5 | c.*55 others(16): Show |
CBY1 | ENSG00000100211.12 | transcript | ENST00000216029.8 | protein_coding | 4982 | chr22 | TogoVar | |||||||
CBY3_chr5_179673560_179686034 | 179677776 | AAAAAG | A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0032 others(1): Show |
5 | 410 | 0.0122 | -5 | c.*80 others(14): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 783 | chr5 | TogoVar | |||||||
CBY3_chr5_179673560_179686034 | 179682272 | GATTAA | G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0004t0001a0001c0007t0001 | a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0004t0001g0014 others(2): Show |
7 | 410 | 0.0171 | -5 | c.-13 others(16): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 1239 | chr5 | TogoVar |