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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8A2_chr13_25366974_26030851 | 25592244 | CTACCTCC others(49): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017a0001c0001t0026others(1): Show | a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0090 others(1): Show |
4 | 122 | 0.0328 | -56 | c.221 others(75): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | chr13 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45740709 | CACACACA others(49): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02897.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 |
3 | 316 | 0.0095 | -56 | c.117 others(73): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678874 | GGGGAGGG others(49): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0274 | 1 | 446 | 0.0022 | -56 | c.287 others(71): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(49): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01981.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0246 a0001c0001t0001g0284 a0001c0001t0002g0154 others(5): Show |
12 | 446 | 0.0269 | -56 | c.287 others(71): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83035827 | GGCTGGTG others(49): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(76): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(19): Show | a0001c0001t0001g0061 a0001c0001t0001g0186 a0001c0001t0004g0227 others(76): Show |
79 | 266 | 0.2970 | -56 | c.233 others(71): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 375039 | GAGGGAGG others(49): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 184 | 0.0054 | -56 | c.784 others(71): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375069 | GAGGGAGG others(49): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 184 | 0.0054 | -56 | c.784 others(71): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88038118 | ATGTGGGC others(49): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0284 | 1 | 352 | 0.0028 | -56 | c.131 others(73): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72725798 | CCCCCATC others(49): Show |
C | intron_variant | MODIFIER | HG03453.hp2 HG03516.hp2 |
a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0351 a0003c0005t0003g0353 |
2 | 398 | 0.0050 | -56 | c.587 others(73): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72725875 | CCCCCTTT others(49): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 others(5): Show |
8 | 398 | 0.0201 | -56 | c.587 others(73): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99199672 | GTGTGTGT others(49): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0251 a0001c0001t0026g0277 |
2 | 350 | 0.0057 | -56 | c.641 others(75): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40046522 | TTATATAT others(49): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0001 a0001c0003t0003g0184 |
2 | 257 | 0.0078 | -56 | c.*55 others(67): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4728 | chrX | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32346560 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0008a0001c0001t0010a0001c0002t0005others(1): Show | a0001c0001t0008g0113 a0001c0001t0010g0018 a0001c0001t0010g0161 others(3): Show |
6 | 290 | 0.0207 | -56 | c.276 others(75): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63234070 | CCTGAAAG others(49): Show |
C | upstream_gene_variant | MODIFIER | NA19091.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0018 | 1 | 300 | 0.0033 | -56 | c.-20 others(67): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1834 | chr20 | TogoVar | |||||||
BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(49): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02258.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0041 a0001c0001t0003g0156 a0001c0001t0003g0195 others(6): Show |
15 | 424 | 0.0354 | -56 | c.116 others(73): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1410207 | ACAGAGTC others(49): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00642.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0014others(5): Show | a0001c0001t0001g0058 a0001c0003t0001g0070 a0001c0003t0001g0114 others(20): Show |
23 | 360 | 0.0639 | -56 | c.91+ others(73): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1435242 | GGGTGCCG others(49): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0159 | 1 | 360 | 0.0028 | -56 | c.92- others(69): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39217033 | ATAAATAT others(49): Show |
A | intron_variant | MODIFIER | HG00408.hp2 NA18950.hp1 NA18952.hp1 others(5): Show |
a0004 | a0004c0003 | a0004c0003t0006 | a0004c0003t0006g0149 a0004c0003t0006g0155 a0004c0003t0006g0158 others(5): Show |
8 | 338 | 0.0237 | -56 | c.365 others(75): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39217035 | AAATATAT others(49): Show |
A | intron_variant | MODIFIER | NA18969.hp1 | a0004 | a0004c0019 | a0004c0019t0006 | a0004c0019t0006g0167 | 1 | 338 | 0.0030 | -56 | c.365 others(75): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
C11orf21_chr11_2290628_2306918 | 2292451 | GCTTCAGT others(49): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 426 | 0.0024 | -56 | c.*54 others(67): Show |
C11orf21 | ENSG00000110665.12 | transcript | ENST00000381153.8 | protein_coding | 3176 | chr11 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64366364 | TTATATAT others(49): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02559.hp1 HG02965.hp1 |
a0002a0004 | a0002c0002a0004c0008 | a0002c0002t0001a0004c0008t0002 | a0002c0002t0001g0018 a0002c0002t0001g0065 a0004c0008t0002g0069 |
3 | 312 | 0.0096 | -56 | c.253 others(75): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
C17orf78_chr17_37370985_37397708 | 37380795 | ACCATGTT others(49): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 441 | 0.0023 | -56 | c.391 others(73): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 3/6 | chr17 | TogoVar | |||||||
C1QTNF8_chr16_1083226_1101244 | 1093110 | CCAATCCC others(49): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0013a0001c0003t0018 | a0001c0003t0013g0140 a0001c0003t0018g0032 |
3 | 396 | 0.0076 | -56 | c.*4+ others(69): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
C1orf21_chr1_184382029_184634019 | 184559476 | CTCCTTCC others(49): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028a0001c0001t0029others(2): Show | a0001c0001t0001g0005 a0001c0001t0028g0151 a0001c0001t0029g0158 others(2): Show |
5 | 232 | 0.0216 | -56 | c.190 others(75): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117046 | GTGTATAT others(49): Show |
G | intron_variant | MODIFIER | HG03098.hp1 NA18522.hp1 |
a0003a0031 | a0003c0034a0031c0025 | a0003c0034t0001a0031c0025t0001 | a0003c0034t0001g0185 a0031c0025t0001g0222 |
2 | 318 | 0.0063 | -56 | c.152 others(75): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117075 | AATATATA others(49): Show |
A | intron_variant | MODIFIER | HG01952.hp1 NA18970.hp1 NA19083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0160 others(1): Show |
4 | 318 | 0.0126 | -56 | c.152 others(75): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208171410 | TCCCAGAT others(49): Show |
T | intron_variant | MODIFIER | HG02129.hp1 NA18947.hp1 NA18954.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 others(4): Show |
7 | 342 | 0.0205 | -56 | c.455 others(71): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
C2orf92_chr2_97664713_97708066 | 97675925 | TTTGGTAA others(49): Show |
T | splice_donor_variant others(2): Show |
HIGH | NA18966.hp2 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0094 | 1 | 310 | 0.0032 | -56 | c.232 others(68): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506622 | TTTCTTTT others(49): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01257.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0032 a0002c0004t0001g0033 a0002c0004t0001g0034 others(1): Show |
4 | 386 | 0.0104 | -56 | c.-47 others(67): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4398 | chr4 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40946156 | TAAAAACA others(49): Show |
T | intron_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0277 | 1 | 380 | 0.0026 | -56 | c.738 others(71): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 7/17 | chr5 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1032575 | GCCAGGCA others(49): Show |
G | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 326 | 0.0031 | -56 | c.130 others(75): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1041274 | ACCTGGGC others(49): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02723.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0281 a0002c0002t0003g0300 a0002c0002t0003g0301 others(3): Show |
6 | 326 | 0.0184 | -56 | c.130 others(75): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1116001 | GCACCGAC others(49): Show |
G | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 326 | 0.0031 | -56 | c.129 others(75): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1116756 | CGGACAGG others(49): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(36): Show |
a0001a0004a0009 | a0001c0001a0004c0005a0009c0006 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0003g0275 a0001c0001t0007g0124 a0001c0001t0007g0127 others(36): Show |
39 | 326 | 0.1196 | -56 | c.129 others(75): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1117333 | GACGCCCA others(49): Show |
G | intron_variant | MODIFIER | HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0324 a0001c0001t0019g0325 |
2 | 326 | 0.0061 | -56 | c.129 others(73): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318489 | AGGGAAAG others(49): Show |
A | intron_variant | MODIFIER | HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0299 a0001c0002t0004g0207 |
2 | 324 | 0.0062 | -56 | c.835 others(73): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137916821 | TGGTTTGG others(49): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01433.hp2 HG02257.hp1 others(8): Show |
a0001a0002a0004 | a0001c0013a0002c0004a0002c0008others(1): Show | a0001c0013t0009a0001c0013t0027a0002c0004t0001others(2): Show | a0001c0013t0009g0203 a0001c0013t0027g0240 a0002c0004t0001g0014 others(8): Show |
11 | 248 | 0.0444 | -56 | c.776 others(71): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2191829 | TACACAGG others(49): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01106.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0015others(16): Show | a0001c0001t0002g0096 a0001c0001t0013g0014 a0001c0001t0015g0030 others(21): Show |
24 | 104 | 0.2308 | -56 | c.477 others(75): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2263204 | AGAGGCCC others(49): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG03579.hp2 |
a0001a0003 | a0001c0001a0003c0027 | a0001c0001t0021a0003c0027t0011 | a0001c0001t0021g0055 a0003c0027t0011g0013 |
2 | 104 | 0.0192 | -56 | c.477 others(77): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691349 | CTATATAT others(49): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0003g0012 a0001c0001t0005g0189 a0001c0001t0006g0178 others(9): Show |
12 | 214 | 0.0561 | -56 | c.299 others(75): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691367 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02735.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0063 | a0001c0001t0002g0177 a0001c0002t0004g0171 a0001c0002t0063g0201 |
3 | 214 | 0.0140 | -56 | c.299 others(75): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12827464 | GTCTGTCT others(49): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01167.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0024a0001c0002t0051others(4): Show | a0001c0001t0039g0014 a0001c0001t0039g0157 a0001c0002t0024g0127 others(6): Show |
9 | 214 | 0.0421 | -56 | c.104 others(75): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227049 | GTGTGGGG others(49): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp1 HG02055.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0017 a0001c0001t0002g0103 a0001c0001t0002g0104 others(13): Show |
16 | 242 | 0.0661 | -56 | c.146 others(73): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200816817 | TGTACACA others(49): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(93): Show |
a0001a0006 | a0001c0002a0001c0011a0006c0010 | a0001c0002t0002a0001c0002t0010a0001c0002t0011others(7): Show | a0001c0002t0002g0030 a0001c0002t0002g0092 a0001c0002t0002g0093 others(93): Show |
96 | 366 | 0.2623 | -56 | c.645 others(73): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | chr1 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200816826 | ACACGCGT others(49): Show |
A | intron_variant | MODIFIER | HG01884.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 a0001c0001t0012g0004 |
2 | 366 | 0.0055 | -56 | c.645 others(73): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7655093 | CACACACA others(49): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0017 | a0001c0017t0026 | a0001c0017t0026g0027 | 1 | 58 | 0.0172 | -56 | c.665 others(73): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004648 | CTGGGGGG others(49): Show |
C | intron_variant | MODIFIER | HG01891.hp1 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0078 a0001c0002t0005g0079 |
2 | 394 | 0.0051 | -56 | c.-14 others(75): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004823 | GGGAGGGG others(49): Show |
G | intron_variant | MODIFIER | HG00423.hp1 NA18983.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0050 | 2 | 394 | 0.0051 | -56 | c.-14 others(75): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004919 | CTGGGGGG others(49): Show |
C | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0112 | 1 | 394 | 0.0025 | -56 | c.-14 others(75): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79005130 | GGGGATTT others(49): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0235 | 1 | 394 | 0.0025 | -56 | c.-14 others(75): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar |