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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C20orf96_chr20_265863_295750 | 278958 | GGGCGGGA others(33): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 407 | 0.0025 | -40 | c.465 others(55): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32146684 | GTATATAT others(33): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02129.hp1 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0032 a0003c0003t0002g0034 a0003c0003t0002g0055 others(5): Show |
10 | 389 | 0.0257 | -40 | c.*28 others(51): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2321 | chr22 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74077771 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG02965.hp1 HG03139.hp1 others(3): Show |
a0001a0011 | a0001c0001a0011c0018 | a0001c0001t0001a0011c0018t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0141 others(3): Show |
6 | 241 | 0.0249 | -40 | c.460 others(57): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74077807 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03453.hp1 NA21309.hp1 |
a0002a0003a0005 | a0002c0003a0003c0016a0005c0006 | a0002c0003t0001a0003c0016t0001a0005c0006t0001 | a0002c0003t0001g0213 a0003c0016t0001g0249 a0005c0006t0001g0014 |
3 | 316 | 0.0095 | -40 | c.460 others(57): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117048 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03579.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0004 | a0001c0001t0001a0002c0003t0001a0004c0004t0001 | a0001c0001t0001g0155 a0002c0003t0001g0016 a0002c0003t0001g0017 others(2): Show |
5 | 142 | 0.0352 | -40 | c.152 others(59): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2orf16_chr2_27532386_27587722 | 27540815 | ACTTCCTA others(33): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02976.hp2 HG03130.hp2 others(1): Show |
a0014a0040 | a0014c0012a0040c0032 | a0014c0012t0001a0040c0032t0001 | a0014c0012t0001g0228 a0014c0012t0001g0261 a0014c0012t0001g0262 others(1): Show |
4 | 324 | 0.0123 | -40 | c.144 others(57): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf16_chr2_27532386_27587722 | 27557877 | CCCCCCTC others(33): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(49): Show |
a0001a0004a0009others(8): Show | a0001c0001a0001c0051a0004c0004others(9): Show | a0001c0001t0001a0001c0051t0001a0004c0004t0001others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(45): Show |
52 | 324 | 0.1605 | -40 | c.145 others(57): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf88_chr2_190175863_190208484 | 190199387 | CTTGGTAT others(33): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02257.hp1 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027 a0002c0002t0002g0099 a0002c0002t0002g0101 others(15): Show |
19 | 418 | 0.0455 | -40 | c.-16 others(57): Show |
C2orf88 | ENSG00000187699.10 | transcript | ENST00000340623.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C3orf18_chr3_50553025_50572747 | 50556555 | AGTGTGTG others(33): Show |
A | downstream_gene_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 6 | 0.1667 | -40 | c.*30 others(51): Show |
C3orf18 | ENSG00000088543.15 | transcript | ENST00000357203.8 | protein_coding | 1469 | chr3 | TogoVar | |||||||
C5AR2_chr19_47327175_47352329 | 47336421 | TTTCTTTC others(33): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0122 | 1 | 13 | 0.0769 | -40 | c.-16 others(57): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121002222 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 229 | 0.0044 | -40 | c.256 others(59): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | |||||||
C5orf15_chr5_133950510_133973625 | 133971061 | CGGGAGGC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(39): Show |
55 | 431 | 0.1276 | -40 | c.-25 others(51): Show |
C5orf15 | ENSG00000113583.8 | transcript | ENST00000231512.5 | protein_coding | 2437 | chr5 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1000402 | GACGTGCC others(33): Show |
G | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0120 | 1 | 324 | 0.0031 | -40 | c.405 others(53): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016216 | GCAGCACA others(33): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 324 | 0.0031 | -40 | c.130 others(57): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1037975 | GCCCCGTC others(33): Show |
G | intron_variant | MODIFIER | HG03927.hp2 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191 a0001c0001t0004g0192 |
2 | 324 | 0.0062 | -40 | c.130 others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1037997 | ACCCTCTG others(33): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0308 | 1 | 324 | 0.0031 | -40 | c.130 others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C9orf57_chr9_72046376_72065613 | 72055400 | CCTTCCTT others(33): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0002c0004t0004 | a0001c0001t0004g0060 a0001c0001t0004g0144 a0002c0004t0004g0148 others(1): Show |
5 | 448 | 0.0112 | -40 | c.280 others(55): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(33): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02615.hp2 NA18959.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 a0001c0002t0001g0061 a0001c0002t0001g0084 others(2): Show |
5 | 136 | 0.0368 | -40 | c.835 others(57): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318502 | GGGAAAGG others(33): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 259 | 0.0039 | -40 | c.835 others(57): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48030874 | TCCCAGAA others(33): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02647.hp2 |
a0006 | a0006c0011a0006c0015 | a0006c0011t0016a0006c0015t0030 | a0006c0011t0016g0038 a0006c0015t0030g0112 |
3 | 374 | 0.0080 | -40 | c.497 others(55): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64466385 | CGTGTATA others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 164 | 0.0061 | -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 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 216 | 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 | a0001c0006t0001 | a0001c0006t0001g0217 | 1 | 213 | 0.0047 | -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(8): Show | a0001c0002a0001c0003a0001c0005others(39): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(74): Show | a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0056 others(154): Show |
157 | 246 | 0.6382 | -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 | a0001c0001t0004g0006 a0001c0001t0043g0037 |
2 | 102 | 0.0196 | -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 | a0001c0002t0036g0034 | 1 | 133 | 0.0075 | -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 | 114 | 0.0088 | -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 | 116 | 0.0086 | -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 | a0001c0001t0001g0087 a0001c0035t0001g0049 a0001c0043t0001g0051 |
3 | 32 | 0.0938 | -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 | a0001c0001t0002g0223 a0001c0019t0002g0298 |
2 | 316 | 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 | 300 | 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 | a0001c0001t0012a0001c0001t0019 | a0001c0001t0012g0228 a0001c0001t0012g0229 a0001c0001t0019g0254 |
3 | 27 | 0.1111 | -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 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0035 | 1 | 326 | 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 | a0001c0001t0001g0185 | 1 | 430 | 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 | a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0107 others(4): Show |
7 | 121 | 0.0579 | -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 | 116 | 0.0086 | -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 | a0001c0001t0011g0017 a0001c0001t0039g0157 a0001c0002t0044g0112 |
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 | a0001c0001t0001g0015 a0001c0001t0001g0071 a0001c0001t0002g0193 others(31): Show |
34 | 37 | 0.9189 | -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 | 176 | 0.0057 | -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 | a0001c0001t0003a0001c0002t0016a0001c0003t0003others(2): Show | a0001c0001t0003g0052 a0001c0002t0016g0074 a0001c0003t0003g0050 others(3): Show |
6 | 240 | 0.0250 | -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 | a0001c0002t0035g0024 | 1 | 444 | 0.0023 | -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 | a0002c0001t0001g0248 a0002c0001t0001g0277 |
2 | 444 | 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 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0061 | a0002c0001t0001g0324 a0002c0001t0061g0405 |
2 | 365 | 0.0055 | -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 | a0001c0002t0001g0184 a0001c0002t0001g0190 a0001c0002t0001g0201 others(118): Show |
134 | 294 | 0.4558 | -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 | a0001c0002t0007g0094 a0001c0005t0012g0282 a0001c0005t0054g0175 others(1): Show |
4 | 444 | 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 | a0001c0002t0001g0198 a0001c0002t0001g0232 a0001c0002t0001g0265 others(50): Show |
57 | 442 | 0.1290 | -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 | a0001c0002t0025g0187 a0001c0002t0052g0177 |
2 | 444 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0147 |
2 | 145 | 0.0138 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0058 others(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 |