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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACHD1_chr1_64465129_64698053 | 64466385 | CGTGTATA others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 166 | 0.0060 | -40 | c.-43 others(51): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 3743 | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13346632 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0168 | 1 | 218 | 0.0046 | -40 | c.979 others(59): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497503 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0217 | 1 | 218 | 0.0046 | -40 | c.293 others(57): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137952651 | AGGAGGTG others(33): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(154): Show |
a0001a0002a0004others(14): Show | a0001c0002a0001c0003a0001c0005others(41): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(74): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(154): Show | 157 | 248 | 0.6331 | -40 | c.107 others(57): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2277350 | GACAGACA others(33): Show |
G | intron_variant | MODIFIER | HG03225.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0043 | a0001c0001t0004g0008a0001c0001t0043g0032 | 2 | 104 | 0.0192 | -40 | c.477 others(61): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53691691 | GATATATA others(33): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0033 | 1 | 210 | 0.0048 | -40 | c.122 others(61): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54736069 | ATATACAT others(33): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0069 | 1 | 118 | 0.0085 | -40 | c.116 others(61): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822796 | TTTCTTTC others(33): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0047 | 1 | 118 | 0.0085 | -40 | c.139 others(59): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54933051 | CCCTTCCT others(33): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0035a0001c0043 | a0001c0001t0001a0001c0035t0001a0001c0043t0001 | a0001c0001t0001g0087a0001c0035t0001g0049a0001c0043t0001g0051 | 3 | 118 | 0.0254 | -40 | c.244 others(61): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D4_chr12_1786963_1923652 | 1818096 | GCCCCGTC others(33): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0002a0001c0019t0002 | a0001c0001t0002g0224a0001c0019t0002g0298 | 2 | 318 | 0.0063 | -40 | c.255 others(59): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18358513 | TCTCTCTC others(33): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0179 | 1 | 200 | 0.0050 | -40 | c.214 others(59): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18358513 | TCTCTCTC others(33): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0293 | 1 | 302 | 0.0033 | -40 | c.51+ others(57): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54005751 | TTAAAATA others(33): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG03516.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020 | a0001c0001t0012g0237a0001c0001t0012g0238a0001c0001t0020g0263 | 3 | 430 | 0.0070 | -40 | c.544 others(57): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854019 | ATGATCTA others(33): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0034 | 1 | 328 | 0.0031 | -40 | c.912 others(57): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | chr17 | TogoVar | ||||||
CALM2_chr2_47155084_47181511 | 47179502 | TGCAGGTC others(33): Show |
T | upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 432 | 0.0023 | -40 | c.-30 others(51): Show |
CALM2 | ENSG00000143933.20 | transcript | ENST00000272298.12 | protein_coding | 2992 | chr2 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71798089 | CAGAGAGA others(33): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01261.hp2 HG01361.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0016 | a0001c0001t0001g0093a0001c0001t0001g0097a0001c0001t0001g0107others(4): Show | 7 | 142 | 0.0493 | -40 | c.659 others(59): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71798101 | CAGAGAGA others(33): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0030 | 1 | 142 | 0.0070 | -40 | c.659 others(59): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691387 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0039a0001c0002t0044 | a0001c0001t0011g0018a0001c0001t0039g0157a0001c0002t0044g0112 | 3 | 214 | 0.0140 | -40 | c.299 others(59): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12751051 | AATAAGAT others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00642.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0016a0001c0001t0001g0071a0001c0001t0002g0193others(31): Show | 34 | 214 | 0.1589 | -40 | c.300 others(57): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12827464 | GTCTGTCT others(33): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0037 | 1 | 214 | 0.0047 | -40 | c.104 others(59): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK2B_chr7_44212154_44330594 | 44307269 | GGGAGGAG others(33): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG02300.hp2 NA18941.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0020a0001c0003t0003others(2): Show | a0001c0001t0003g0050a0001c0002t0020g0074a0001c0003t0003g0048others(3): Show | 6 | 242 | 0.0248 | -40 | c.65+ others(57): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868007 | GGGCTCTG others(33): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0017 | 1 | 446 | 0.0022 | -40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868010 | CTCTGGGG others(33): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG04115.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0255a0002c0001t0001g0284 | 2 | 446 | 0.0045 | -40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868050 | ATCTGGGG others(33): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03834.hp2 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0006a0002c0001t0061 | a0002c0001t0001g0336a0002c0001t0006g0306a0002c0001t0061g0416 | 3 | 446 | 0.0067 | -40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868071 | AGTCTAAC others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(131): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(40): Show | a0001c0002t0001g0190a0001c0002t0001g0196a0001c0002t0001g0207others(124): Show | 134 | 446 | 0.3005 | -40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868391 | TCTAACTG others(33): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03017.hp1 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0007a0001c0005t0012a0001c0005t0054others(1): Show | a0001c0002t0007g0090a0001c0005t0012g0291a0001c0005t0054g0181others(1): Show | 4 | 446 | 0.0090 | -40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868402 | TGTGGGCT others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(54): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0204a0001c0002t0001g0238a0001c0002t0001g0272others(51): Show | 57 | 446 | 0.1278 | -40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868429 | TGCCTAAC others(33): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0025a0001c0002t0052 | a0001c0002t0025g0193a0001c0002t0052g0183 | 2 | 446 | 0.0045 | -40 | c.134 others(59): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44409080 | GATATATA others(33): Show |
G | intron_variant | MODIFIER | HG02258.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0147 | 2 | 198 | 0.0101 | -40 | c.376 others(59): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44588231 | CCTCCGTC others(33): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0058others(23): Show | 26 | 198 | 0.1313 | -40 | c.377 others(61): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAPN12_chr19_38725192_38749474 | 38735670 | CGCGGGGC others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01169.hp1 others(25): Show |
a0001a0004a0015others(1): Show | a0001c0002a0001c0003a0004c0010others(3): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0002t0002g0015a0001c0002t0002g0152a0001c0002t0002g0155others(23): Show | 28 | 342 | 0.0819 | -40 | c.158 others(57): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735797 | CGGGGCGG others(33): Show |
C | intron_variant | MODIFIER | HG03669.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0115 | 2 | 342 | 0.0059 | -40 | c.158 others(57): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77098914 | AGGCTCCT others(33): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0014 | a0001c0001t0014g0275a0001c0002t0014g0221 | 2 | 382 | 0.0052 | -40 | c.297 others(57): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116890531 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0019others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0106others(59): Show | 64 | 354 | 0.1808 | -40 | c.103 others(57): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116890559 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014a0001c0001t0029 | a0001c0001t0011g0005a0001c0001t0011g0010a0001c0001t0014g0008others(2): Show | 5 | 354 | 0.0141 | -40 | c.103 others(57): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116890567 | TACACATA others(33): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0015a0001c0002t0006g0016 | 2 | 354 | 0.0057 | -40 | c.103 others(57): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZB_chr1_19333775_19490539 | 19398218 | CAGTCATC others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0030others(71): Show | 74 | 364 | 0.2033 | -40 | c.94- others(57): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
CASKIN1_chr16_2172180_2201605 | 2178786 | ACGCCCAT others(33): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03688.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0001t0027a0001c0011t0011others(1): Show | a0001c0001t0001g0073a0001c0001t0001g0157a0001c0001t0027g0116others(2): Show | 5 | 350 | 0.0143 | -40 | c.419 others(56): Show |
CASKIN1 | ENSG00000167971.16 | transcript | ENST00000343516.8 | protein_coding | 19/19 | chr16 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113678816 | GTTGTGGG others(33): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(309): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0008others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0010a0001c0001t0002g0012a0001c0001t0002g0103others(297): Show | 312 | 406 | 0.7685 | -40 | c.-11 others(51): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1095 | chr10 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244557532 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 206 | 0.0049 | -40 | c.103 others(59): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116523083 | AGAAGGAA others(33): Show |
A | upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0311 | 1 | 342 | 0.0029 | -40 | c.-19 others(51): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1952 | chr7 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33536533 | CCAGACGG others(33): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0094a0001c0001t0006g0095a0001c0001t0006g0118others(1): Show | 4 | 298 | 0.0134 | -40 | c.34+ others(57): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33536793 | TACTTCCT others(33): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 298 | 0.0034 | -40 | c.34+ others(57): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88893196 | TGCCTCCC others(33): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005a0001c0002t0030 | a0001c0001t0001g0131a0001c0002t0005g0005a0001c0002t0005g0217others(1): Show | 4 | 284 | 0.0141 | -40 | c.380 others(55): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88980787 | GTGGATGG others(33): Show |
G | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 284 | 0.0035 | -40 | c.-40 others(51): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3581 | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105754493 | AAGAGAGA others(33): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02258.hp1 HG02451.hp2 others(5): Show |
a0001a0002 | a0001c0019a0002c0005 | a0001c0019t0027a0002c0005t0014a0002c0005t0020 | a0001c0019t0027g0028a0002c0005t0014g0002a0002c0005t0014g0009others(5): Show | 8 | 380 | 0.0211 | -40 | c.567 others(57): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59658350 | AAAAAATA others(33): Show |
A | intron_variant | MODIFIER | HG02300.hp2 NA20300.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0004c0005t0025 | a0001c0001t0003g0040a0004c0005t0025g0034 | 2 | 242 | 0.0083 | -40 | c.212 others(59): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CCDC126_chr7_23592382_23649708 | 23636694 | CCTCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG02293.hp1 HG02886.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0030others(3): Show | 6 | 380 | 0.0158 | -40 | c.239 others(57): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC126_chr7_23592382_23649708 | 23636702 | TGGCAGCC others(33): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0308 | 1 | 380 | 0.0026 | -40 | c.239 others(57): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CCDC134_chr22_41795679_41837164 | 41836662 | CCTGAGTG others(33): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 380 | 0.0026 | -40 | c.*10 others(53): Show |
CCDC134 | ENSG00000100147.14 | transcript | ENST00000255784.6 | protein_coding | 4499 | chr22 | TogoVar |