| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CAPZA2_chr7_116857587_116927049 | 116890587 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0304 | 1 | 354 | 0.0028 | -24 | c.103 others(41): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAPZB_chr1_19333775_19490539 | 19476168 | GTAGATAG others(17): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0001g0201 | 3 | 364 | 0.0082 | -24 | c.3+9 others(37): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| CARD10_chr22_37485362_37524415 | 37524304 | CGCCTGCC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG03453.hp1 NA20129.hp1 |
a0003 | a0003c0018 | a0003c0018t0002 | a0003c0018t0002g0049a0003c0018t0002g0050 | 2 | 276 | 0.0073 | -24 | c.-51 others(35): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4890 | chr22 | TogoVar | ||||||
| CARD11_chr7_2901142_3048867 | 2920600 | GTCTATCT others(17): Show |
G | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0052 | a0001c0052t0001 | a0001c0052t0001g0270 | 1 | 322 | 0.0031 | -24 | c.227 others(42): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
| CARD11_chr7_2901142_3048867 | 2933658 | ATCTTTCT others(17): Show |
A | intron_variant | MODIFIER | NA19011.hp1 NA19065.hp1 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0002a0001c0012t0002 | a0001c0004t0002g0195a0001c0012t0002g0201 | 2 | 322 | 0.0062 | -24 | c.151 others(41): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
| CARD11_chr7_2901142_3048867 | 2969839 | TATTCACT others(17): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02647.hp1 HG02886.hp2 others(1): Show |
a0001a0016 | a0001c0001a0001c0011a0001c0039others(1): Show | a0001c0001t0001a0001c0011t0001a0001c0039t0001others(1): Show | a0001c0001t0001g0055a0001c0011t0001g0107a0001c0039t0001g0313others(1): Show | 4 | 322 | 0.0124 | -24 | c.-12 others(45): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
| CARF_chr2_202907275_202993263 | 202969578 | AAAATAAA others(17): Show |
A | intron_variant | MODIFIER | NA19001.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0078a0001c0001t0082 | a0001c0001t0078g0072a0001c0001t0082g0114 | 2 | 334 | 0.0060 | -24 | c.954 others(39): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CARF_chr2_202907275_202993263 | 202986867 | CGTATATA others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18962.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0185a0001c0001t0041g0186 | 2 | 334 | 0.0060 | -24 | c.*32 others(35): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3244 | chr2 | TogoVar | |||||
| CARHSP1_chr16_8847947_8874006 | 8861158 | ATTTTTTT others(17): Show |
A | intron_variant | MODIFIER | HG00621.hp1 NA19070.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0003a0002c0007t0003 | a0001c0001t0003g0364a0002c0007t0003g0352 | 2 | 470 | 0.0043 | -24 | c.-7- others(39): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
| CARMIL1_chr6_25274374_25625530 | 25281122 | GCGTGTGC others(17): Show |
G | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 186 | 0.0054 | -24 | c.40+ others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25392038 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG03130.hp2 HG03516.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0005 | a0001c0002t0005a0001c0004t0012a0001c0004t0018others(1): Show | a0001c0002t0005g0175a0001c0004t0012g0177a0001c0004t0018g0093others(1): Show | 4 | 186 | 0.0215 | -24 | c.139 others(43): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25392053 | CATGTGTG others(17): Show |
C | intron_variant | MODIFIER | NA18948.hp2 NA18949.hp1 NA18993.hp2 others(1): Show |
a0001a0009 | a0001c0003a0001c0004a0009c0027 | a0001c0003t0002a0001c0004t0002a0009c0027t0002 | a0001c0003t0002g0037a0001c0003t0002g0041a0001c0004t0002g0043others(1): Show | 4 | 186 | 0.0215 | -24 | c.139 others(43): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
| CARMIL1_chr6_25274374_25625530 | 25459246 | CTTTCTTT others(17): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0010 | a0001c0001t0015g0184a0001c0003t0010g0155 | 2 | 186 | 0.0108 | -24 | c.615 others(41): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARMIL1_chr6_25274374_25625530 | 25490730 | TAAATAAA others(17): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0183 | 1 | 186 | 0.0054 | -24 | c.106 others(41): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARNMT1_chr9_74975790_75033293 | 75005827 | AACACACA others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015 | a0001c0001t0010g0222a0001c0001t0010g0265a0001c0001t0010g0266others(1): Show | 4 | 366 | 0.0109 | -24 | c.591 others(41): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
| CARS1_chr11_2995929_3062423 | 3032040 | CTCCCTCC others(17): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02257.hp2 others(12): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0056a0001c0001t0001g0085a0001c0001t0001g0209others(12): Show | 15 | 321 | 0.0467 | -24 | c.802 others(41): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
| CARS1_chr11_2995929_3062423 | 3032044 | CTCCCTCC others(17): Show |
C | intron_variant | MODIFIER | HG03942.hp1 NA18951.hp1 NA18966.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0005a0001c0001t0001g0047a0001c0001t0001g0048others(4): Show | 8 | 321 | 0.0249 | -24 | c.802 others(41): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
| CARS1_chr11_2995929_3062423 | 3032052 | CTCCCTCC others(17): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 321 | 0.0031 | -24 | c.802 others(41): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
| CASK_chrX_41509934_41928554 | 41517770 | TAGCAGCA others(17): Show |
T | 3_prime_UTR_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0003 | 1 | 164 | 0.0061 | -24 | c.*26 others(35): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 27/27 | 2626 | chrX | TogoVar | |||||
| CASK_chrX_41509934_41928554 | 41829696 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG02717.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0149 | 2 | 164 | 0.0122 | -24 | c.172 others(43): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
| CASP2_chr7_143283351_143312696 | 143312568 | TATTTCTT others(17): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 246 | 0.0041 | -24 | c.*74 others(35): Show |
CASP2 | ENSG00000106144.20 | transcript | ENST00000310447.10 | protein_coding | 4873 | chr7 | TogoVar | ||||||
| CASP5_chr11_104989243_105028168 | 105005352 | ATATATGT others(17): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0320 | 1 | 396 | 0.0025 | -24 | c.433 others(41): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
| CASP5_chr11_104989243_105028168 | 105009718 | CACATATA others(17): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0148 | 1 | 396 | 0.0025 | -24 | c.8-7 others(35): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| CASP5_chr11_104989243_105028168 | 105009720 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02055.hp2 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0004others(1): Show | a0001c0001t0001a0003c0005t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0001g0283others(4): Show | 11 | 396 | 0.0278 | -24 | c.8-7 others(35): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| CASQ2_chr1_115695021_115773714 | 115766865 | TGATAGAT others(17): Show |
T | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 364 | 0.0028 | -24 | c.234 others(41): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
| CASZ1_chr1_10631604_10801646 | 10694584 | CCCGCCGC others(17): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0028 | a0003c0028t0037 | a0003c0028t0037g0068 | 1 | 236 | 0.0042 | -24 | c.-23 others(39): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
| CASZ1_chr1_10631604_10801646 | 10744344 | CGGCACCA others(17): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01978.hp2 HG02129.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0020 | a0001c0001t0001a0001c0001t0047a0001c0003t0032others(1): Show | a0001c0001t0001g0200a0001c0001t0047g0088a0001c0003t0032g0044others(1): Show | 4 | 236 | 0.0170 | -24 | c.-77 others(43): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
| CATSPERE_chr1_244456273_244645504 | 244557532 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 206 | 0.0049 | -24 | c.103 others(43): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERE_chr1_244456273_244645504 | 244582910 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG03130.hp2 NA19086.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0002 | a0001c0001t0002g0054a0001c0001t0002g0139a0002c0004t0002g0023 | 3 | 206 | 0.0146 | -24 | c.201 others(41): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERG_chr19_38330830_38375943 | 38336502 | CGGCCGGG others(17): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG01106.hp2 others(20): Show |
a0001a0004a0011 | a0001c0007a0001c0008a0004c0006others(2): Show | a0001c0007t0001a0001c0008t0001a0004c0006t0001others(2): Show | a0001c0007t0001g0006a0001c0007t0001g0196a0001c0007t0001g0197others(19): Show | 23 | 376 | 0.0612 | -24 | c.-15 others(39): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CAV1_chr7_116520036_116566179 | 116523083 | AGAAGGAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0061 | 1 | 342 | 0.0029 | -24 | c.-19 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1952 | chr7 | TogoVar | ||||||
| CAV1_chr7_116520036_116566179 | 116523131 | GGAAGGAA others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01168.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0090a0001c0001t0001g0097a0001c0001t0001g0100others(3): Show | 7 | 342 | 0.0205 | -24 | c.-19 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1904 | chr7 | TogoVar | ||||||
| CAV1_chr7_116520036_116566179 | 116534381 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02809.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0085a0001c0001t0004g0074 | 2 | 342 | 0.0059 | -24 | c.195 others(41): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAV1_chr7_116520036_116566179 | 116555518 | AAGAGAGA others(17): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01070.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0047a0001c0001t0001g0077others(21): Show | 25 | 342 | 0.0731 | -24 | c.196 others(41): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33616078 | GAGATAGA others(17): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0174 | 1 | 298 | 0.0034 | -24 | c.421 others(41): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33642108 | TTTTTTTT others(17): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0010 | a0001c0010t0028 | a0001c0010t0028g0132 | 1 | 298 | 0.0034 | -24 | c.148 others(43): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33643753 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0003g0087a0001c0001t0003g0089a0001c0001t0003g0109others(23): Show | 26 | 298 | 0.0873 | -24 | c.148 others(41): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T3_chr16_88869858_88982207 | 88880222 | GCCCAACC others(17): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0002a0001c0005a0001c0016others(1): Show | a0001c0002t0030a0001c0005t0012a0001c0005t0028others(2): Show | a0001c0002t0030g0089a0001c0005t0012g0184a0001c0005t0028g0249others(2): Show | 5 | 284 | 0.0176 | -24 | c.147 others(41): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 10/11 | chr16 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88915192 | TGGCGTGG others(17): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 284 | 0.0035 | -24 | c.152 others(43): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| CBLC_chr19_44772890_44805652 | 44785532 | GTAGATAG others(17): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02970.hp2 HG03017.hp2 others(10): Show |
a0000a0001a0005 | a0000c0002a0001c0001a0005c0012 | a0000c0002t0001a0001c0001t0001a0005c0012t0001 | a0000c0002t0001g0012a0000c0002t0001g0013a0000c0002t0001g0034others(8): Show | 13 | 344 | 0.0378 | -24 | c.917 others(41): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CBLIF_chr11_59824273_59850499 | 59834240 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 342 | 0.0029 | -24 | c.107 others(43): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | ||||||
| CBLL1_chr7_107739142_107766667 | 107764446 | TTGTGTGT others(17): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0064 | 2 | 432 | 0.0046 | -24 | c.*52 others(35): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 2780 | chr7 | TogoVar | ||||||
| CBL_chr11_119201339_119313149 | 119264418 | CTTCTCTT others(17): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG02155.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0032 | a0001c0001t0002g0002a0001c0001t0002g0261a0001c0001t0002g0267others(2): Show | 5 | 364 | 0.0137 | -24 | c.444 others(41): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBR3_chr21_36130079_36151562 | 36137503 | AAAGGAAG others(17): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01081.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0021a0001c0004t0001g0240a0002c0002t0001g0025others(27): Show | 37 | 424 | 0.0873 | -24 | c.290 others(39): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CBS_chr21_43048191_43080835 | 43079813 | GAGGAGGA others(17): Show |
G | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0048 | 1 | 298 | 0.0034 | -24 | c.-41 others(35): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3979 | chr21 | TogoVar | ||||||
| CC2D2A_chr4_15464882_15606552 | 15470679 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0071 | 2 | 344 | 0.0058 | -24 | c.-19 others(39): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CC2D2A_chr4_15464882_15606552 | 15470681 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0099 | 3 | 344 | 0.0087 | -24 | c.-19 others(39): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CC2D2A_chr4_15464882_15606552 | 15470685 | CTCTCTAT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02109.hp2 NA19009.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0007a0001c0001t0001g0175a0001c0002t0002g0176 | 3 | 344 | 0.0087 | -24 | c.-19 others(39): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CC2D2A_chr4_15464882_15606552 | 15470689 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 344 | 0.0029 | -24 | c.-19 others(39): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CC2D2B_chr10_95902975_96038745 | 96029262 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0115a0001c0001t0001g0174a0001c0001t0002g0003others(9): Show | 12 | 312 | 0.0385 | -24 | c.412 others(43): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |