| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BANP_chr16_87946434_88082316 | 87999824 | GCGGCTGT others(43): Show |
G | intron_variant | MODIFIER | HG02015.hp1 NA18612.hp2 NA19054.hp1 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0296a0001c0005t0003g0304a0001c0005t0003g0309 | 3 | 352 | 0.0085 | -50 | c.363 others(67): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BCAP29_chr7_107575246_107625478 | 107613649 | TACAGCAT others(43): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02897.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0043others(2): Show | 5 | 398 | 0.0126 | -50 | c.690 others(65): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
| BCKDK_chr16_31103386_31117791 | 31104757 | GGGGGGTC others(43): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | -50 | c.-38 others(61): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 3628 | chr16 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63145351 | AGGGGGCT others(43): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0103a0001c0001t0001g0110a0001c0001t0001g0156others(31): Show | 34 | 264 | 0.1288 | -50 | c.586 others(69): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(43): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0037a0001c0006t0027 | a0001c0001t0037g0198a0001c0006t0027g0207 | 2 | 368 | 0.0054 | -50 | c.241 others(67): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(43): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 276 | 0.0036 | -50 | c.490 others(65): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(43): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02886.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0007 | a0001c0001t0002a0001c0001t0022a0002c0002t0018others(1): Show | a0001c0001t0002g0008a0001c0001t0022g0001a0002c0002t0018g0131others(1): Show | 4 | 132 | 0.0303 | -50 | c.307 others(69): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32346566 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 290 | 0.0035 | -50 | c.276 others(69): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BMP2K_chr4_78771350_78921365 | 78829767 | TTTCTTTT others(43): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0042 | 1 | 204 | 0.0049 | -50 | c.297 others(67): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMT2_chr7_112814147_112944875 | 112922847 | GCCCGGCC others(43): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0015 | 3 | 206 | 0.0146 | -50 | c.161 others(67): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(43): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02717.hp2 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0301a0002c0002t0001g0028 | 3 | 424 | 0.0071 | -50 | c.116 others(67): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105214451 | GTGGCTCA others(43): Show |
G | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0013 | 1 | 72 | 0.0139 | -50 | c.177 others(69): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 15/17 | chr14 | TogoVar | ||||||
| BRWD1_chr21_39180482_39318632 | 39217043 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0006 | a0006c0009 | a0006c0009t0012 | a0006c0009t0012g0084 | 1 | 338 | 0.0030 | -50 | c.365 others(69): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
| BTRC_chr10_101349165_101562313 | 101415486 | TTTATGTT others(43): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01243.hp1 others(31): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0121a0001c0001t0002g0014a0001c0001t0002g0020others(31): Show | 34 | 266 | 0.1278 | -50 | c.49- others(67): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| C11orf16_chr11_8915076_8937947 | 8919040 | AAGTAGAG others(43): Show |
A | downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -50 | c.*13 others(61): Show |
C11orf16 | ENSG00000176029.14 | transcript | ENST00000326053.10 | protein_coding | 1035 | chr11 | TogoVar | ||||||
| C16orf95_chr16_87297814_87322392 | 87302463 | TTAATGGT others(43): Show |
T | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0173 | 1 | 458 | 0.0022 | -50 | c.*54 others(59): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 350 | chr16 | TogoVar | ||||||
| C16orf95_chr16_87297814_87322392 | 87304344 | GTGCCCGG others(43): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0113a0002c0001t0001g0195 | 2 | 458 | 0.0044 | -50 | c.702 others(67): Show |
C16orf95 | ENSG00000260456.7 | transcript | ENST00000567970.2 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
| C17orf78_chr17_37370985_37397708 | 37390054 | GGCAGAGG others(43): Show |
G | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 441 | 0.0023 | -50 | c.750 others(65): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | chr17 | TogoVar | ||||||
| C18orf63_chr18_74310839_74364189 | 74361967 | TGCATATA others(43): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 372 | 0.0027 | -50 | c.*55 others(61): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 2779 | chr18 | TogoVar | ||||||
| C1GALT1C1L_chr2_43670151_43681429 | 43677904 | CGGGGCGG others(43): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 396 | 0.0025 | -50 | c.-16 others(61): Show |
C1GALT1C1L | ENSG00000223658.8 | transcript | ENST00000475092.4 | protein_coding | 1476 | chr2 | TogoVar | ||||||
| C1QB_chr1_22648236_22666637 | 22659296 | GGATGGAT others(43): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG02135.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0091 | 4 | 430 | 0.0093 | -50 | c.-23 others(64): Show |
C1QB | ENSG00000173369.18 | transcript | ENST00000509305.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| C1orf202_chr1_244724701_244736015 | 244731978 | AATTTTTT others(43): Show |
A | upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -50 | c.-11 others(61): Show |
C1orf202 | ENSG00000284188.3 | transcript | ENST00000640271.3 | protein_coding | 964 | chr1 | TogoVar | ||||||
| C1orf43_chr1_154201720_154225590 | 154203172 | AATATATA others(43): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp1 HG02040.hp2 HG02074.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0095 | 7 | 374 | 0.0187 | -50 | c.*42 others(61): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 3547 | chr1 | TogoVar | ||||||
| C2CD3_chr11_74007718_74176002 | 74077797 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG03486.hp2 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0230a0006c0008t0001g0238a0006c0008t0001g0240 | 3 | 318 | 0.0094 | -50 | c.460 others(67): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1002366 | TGGAGTCC others(43): Show |
T | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0115 | 1 | 326 | 0.0031 | -50 | c.324 others(67): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1002889 | TTGGGTGA others(43): Show |
T | intron_variant | MODIFIER | NA19004.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0131a0001c0001t0009g0148 | 2 | 326 | 0.0061 | -50 | c.324 others(67): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1003561 | TGGGTGGG others(43): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01891.hp2 others(14): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0005g0204a0001c0001t0005g0260a0001c0001t0005g0273others(14): Show | 17 | 326 | 0.0522 | -50 | c.324 others(67): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1016254 | CGCCAGCA others(43): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02145.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008 | a0001c0001t0003g0307a0001c0001t0005g0241a0001c0001t0005g0248others(1): Show | 4 | 326 | 0.0123 | -50 | c.130 others(67): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1116186 | TGACATCA others(43): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0146 | 1 | 326 | 0.0031 | -50 | c.129 others(69): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1116239 | TGACTTCA others(43): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01071.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0007g0124a0001c0001t0007g0127a0001c0001t0007g0130others(21): Show | 24 | 326 | 0.0736 | -50 | c.129 others(69): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1128733 | CCTGTCAC others(43): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02071.hp1 HG02698.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0209a0001c0001t0002g0214a0001c0001t0002g0217others(12): Show | 15 | 326 | 0.0460 | -50 | c.-1- others(65): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| CAB39L_chr13_49303650_49449064 | 49318483 | AGGGAAAG others(43): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0181 | 1 | 324 | 0.0031 | -50 | c.835 others(67): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
| CABIN1_chr22_24006304_24183628 | 24011117 | ACACACGC others(43): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 268 | 0.0037 | -50 | c.-32 others(59): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 186 | chr22 | TogoVar | ||||||
| CABIN1_chr22_24006304_24183628 | 24011125 | ACACGCAC others(43): Show |
A | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0014 | a0014c0026 | a0014c0026t0004 | a0014c0026t0004g0130 | 1 | 268 | 0.0037 | -50 | c.-31 others(59): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 178 | chr22 | TogoVar | ||||||
| CACNA1A_chr19_13201442_13511479 | 13376819 | GATATATA others(43): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0135 | 1 | 218 | 0.0046 | -50 | c.540 others(67): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 137884302 | GCACGGCC others(43): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0244 | 1 | 248 | 0.0040 | -50 | c.530 others(67): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA2D4_chr12_1786963_1923652 | 1840284 | GCCCGCCA others(43): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0248 | 1 | 318 | 0.0031 | -50 | c.255 others(67): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | ||||||
| CACNB2_chr10_18135424_18548557 | 18358503 | TCTCTCTC others(43): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01943.hp1 NA18989.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005a0001c0002t0058 | a0001c0001t0003g0047a0001c0002t0005g0118a0001c0002t0058g0159 | 3 | 200 | 0.0150 | -50 | c.214 others(69): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18442936 | ATATATGT others(43): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 200 | 0.0050 | -50 | c.333 others(69): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18358503 | TCTCTCTC others(43): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(1): Show | a0001c0001t0001g0223a0001c0001t0001g0284a0001c0001t0003g0282others(3): Show | 6 | 302 | 0.0199 | -50 | c.51+ others(67): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18442936 | ATATATGT others(43): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 302 | 0.0033 | -50 | c.171 others(69): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CALCOCO2_chr17_48826035_48870245 | 48854713 | TTAGTTTT others(43): Show |
T | intron_variant | MODIFIER | NA18989.hp1 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0015 | 1 | 328 | 0.0031 | -50 | c.913 others(67): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CALML5_chr10_5493697_5504570 | 5497984 | GACACAGA others(43): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 444 | 0.0023 | -50 | c.*96 others(60): Show |
CALML5 | ENSG00000178372.8 | transcript | ENST00000380332.5 | protein_coding | 712 | chr10 | TogoVar | ||||||
| CALN1_chr7_71774491_72417338 | 72052889 | GGAGGCCA others(43): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0038a0001c0001t0001g0125a0001c0001t0030g0020 | 3 | 142 | 0.0211 | -50 | c.389 others(69): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 4/6 | chr7 | TogoVar | ||||||
| CAMK1D_chr10_12344547_12840545 | 12734424 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(181): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(102): Show | a0001c0001t0001g0016a0001c0001t0001g0046a0001c0001t0001g0047others(181): Show | 184 | 214 | 0.8598 | -50 | c.300 others(69): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CAMK2B_chr7_44212154_44330594 | 44227436 | GGGGTGTG others(43): Show |
G | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0041 | 1 | 242 | 0.0041 | -50 | c.146 others(67): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
| CAMK2D_chr4_113446032_113766738 | 113462278 | GTGTGTGT others(43): Show |
G | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0082 | 1 | 278 | 0.0036 | -50 | c.121 others(69): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 17/20 | chr4 | TogoVar | ||||||
| CAMKK2_chr12_121232692_121301709 | 121295447 | GTGGCTAA others(43): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0308 | 1 | 330 | 0.0030 | -50 | c.-60 others(67): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
| CAMKMT_chr2_44356947_44777592 | 44409080 | GATATATA others(43): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01975.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0001g0128others(6): Show | 9 | 198 | 0.0455 | -50 | c.376 others(69): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAMLG_chr5_134733548_134757157 | 134749992 | ACTGCACT others(43): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 366 | 0.0027 | -50 | c.700 others(65): Show |
CAMLG | ENSG00000164615.6 | transcript | ENST00000297156.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |