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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC2_chr10_99777640_99857594 | 99839469 | ACCCCCCA others(92): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01074.hp1 others(5): Show |
a0005a0014a0020others(2): Show | a0005c0008a0014c0023a0020c0024others(2): Show | a0005c0008t0001a0014c0023t0001a0020c0024t0001others(2): Show | a0005c0008t0001g0013 a0005c0008t0001g0030 a0005c0008t0001g0047 others(5): Show |
8 | 329 | 0.0243 | -99 | c.361 others(118): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95196638 | AAGGAAGG others(92): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0092 | 1 | 246 | 0.0041 | -99 | c.116 others(118): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ACE_chr17_63472061_63503373 | 63501260 | TCCTCTCC others(92): Show |
T | downstream_gene_variant | MODIFIER | NA18951.hp1 NA18962.hp1 NA18980.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0075 |
6 | 372 | 0.0161 | -99 | c.*38 others(110): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 2888 | chr17 | TogoVar | |||||||
ACTR6_chr12_100195815_100229424 | 100229235 | TTTTGAGA others(92): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 240 | 0.0042 | -99 | c.*53 others(110): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 4812 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277951 | GACCCCCT others(92): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01071.hp1 others(3): Show |
a0001a0003a0004others(2): Show | a0001c0018a0003c0012a0004c0019others(2): Show | a0001c0018t0002a0003c0012t0001a0004c0019t0003others(2): Show | a0001c0018t0002g0176 a0003c0012t0001g0054 a0004c0019t0003g0159 others(3): Show |
6 | 274 | 0.0219 | -99 | c.535 others(116): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179337806 | GTGAGCCT others(92): Show |
G | intron_variant | MODIFIER | HG00438.hp1 NA19030.hp1 NA19043.hp2 |
a0001a0003 | a0001c0004a0003c0002a0003c0043 | a0001c0004t0004a0003c0002t0001a0003c0043t0014 | a0001c0004t0004g0157 a0003c0002t0001g0129 a0003c0043t0014g0193 |
3 | 274 | 0.0109 | -99 | c.534 others(116): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72549982 | AGAAGAAG others(92): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0026 | 1 | 179 | 0.0056 | -99 | c.98- others(114): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77444390 | TATAGTAT others(92): Show |
T | intron_variant | MODIFIER | HG02738.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0028 |
2 | 209 | 0.0096 | -99 | c.105 others(120): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 58066147 | GAAAGTCC others(92): Show |
G | upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 324 | 0.0031 | -99 | c.-59 others(108): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 437 | chr15 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105036088 | ATATTATA others(92): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00639.hp2 others(54): Show |
a0001a0002 | a0001c0002a0001c0013a0002c0004 | a0001c0002t0002a0001c0002t0015a0001c0002t0020others(5): Show | a0001c0002t0002g0029 a0001c0002t0002g0072 a0001c0002t0002g0092 others(54): Show |
57 | 375 | 0.1520 | -99 | c.214 others(118): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105036127 | TATATATA others(92): Show |
T | intron_variant | MODIFIER | NA18522.hp1 NA19043.hp1 |
a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0052 a0001c0010t0007g0055 |
2 | 383 | 0.0052 | -99 | c.214 others(118): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105036135 | TACGTATA others(92): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02630.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0001t0029a0001c0002t0002 | a0001c0001t0022g0122 a0001c0001t0029g0151 a0001c0002t0002g0223 |
3 | 290 | 0.0103 | -99 | c.214 others(118): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107866 | AAAGAAAG others(92): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG03486.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0003a0002c0003t0002 | a0001c0001t0002g0268 a0001c0002t0003g0022 a0002c0003t0002g0001 others(1): Show |
4 | 420 | 0.0095 | -99 | c.168 others(116): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516298 | AAAAATAT others(92): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 NA18971.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0065 |
2 | 400 | 0.0050 | -99 | c.-23 others(110): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2270 | chr4 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516302 | ATATATAT others(92): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 NA18991.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0059 a0001c0002t0001g0064 others(1): Show |
4 | 321 | 0.0125 | -99 | c.-23 others(110): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2266 | chr4 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113064718 | TTGTTAGA others(92): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01891.hp1 HG02145.hp2 others(14): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0007others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0023 others(14): Show |
17 | 25 | 0.6800 | -99 | c.84+ others(116): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANKMY2_chr7_16594779_16650754 | 16627732 | CCAAATCA others(92): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(54): Show |
a0001 | a0001c0004a0001c0007a0001c0008others(3): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(10): Show | a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0112 others(52): Show |
57 | 341 | 0.1672 | -99 | c.133 others(114): Show |
ANKMY2 | ENSG00000106524.9 | transcript | ENST00000306999.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89299436 | ATGGGGTC others(92): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0111 | 1 | 308 | 0.0032 | -99 | c.226 others(116): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89454845 | GGTGTTTC others(92): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0091 | 1 | 308 | 0.0032 | -99 | c.-14 others(120): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
ANO3_chr11_26327130_26668289 | 26658401 | GTCAGGAG others(92): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00597.hp1 others(55): Show |
a0001 | a0001c0002a0001c0003a0001c0011others(1): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0011others(9): Show | a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 others(55): Show |
58 | 188 | 0.3085 | -99 | c.276 others(118): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 436720 | GGGGTGAG others(92): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(68): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0013a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0013t0005others(9): Show | a0001c0001t0001g0082 a0001c0001t0001g0253 a0001c0001t0001g0254 others(67): Show |
71 | 284 | 0.2500 | -99 | c.7-2 others(112): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 1/22 | chr11 | TogoVar | |||||||
ARHGEF18_chr19_7343937_7477478 | 7362089 | GAGAAGGA others(92): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0017 a0002c0007t0001g0018 |
2 | 254 | 0.0079 | -99 | c.-11 others(116): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4714726 | CCACGTTA others(92): Show |
C | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 430 | 0.0023 | -99 | c.24- others(112): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608447 | TTTTATAT others(92): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03471.hp1 HG03516.hp2 others(1): Show |
a0001a0006 | a0001c0011a0006c0007 | a0001c0011t0002a0006c0007t0001a0006c0007t0008 | a0001c0011t0002g0072 a0006c0007t0001g0291 a0006c0007t0008g0309 others(1): Show |
4 | 289 | 0.0138 | -99 | c.478 others(118): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653398 | CGTACATA others(92): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0011t0025 | a0001c0001t0002g0024 a0001c0001t0002g0107 a0001c0001t0002g0173 others(1): Show |
4 | 138 | 0.0290 | -99 | c.676 others(116): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112841132 | GGGATGCT others(92): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG03453.hp1 NA18522.hp1 |
a0001 | a0001c0016a0001c0017 | a0001c0016t0004a0001c0017t0076 | a0001c0016t0004g0214 a0001c0016t0004g0215 a0001c0017t0076g0154 |
3 | 252 | 0.0119 | -99 | c.170 others(118): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145180 | GAGAAAGA others(92): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG02602.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0092 others(4): Show |
8 | 254 | 0.0315 | -99 | c.639 others(116): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086740 | TTTATTAT others(92): Show |
T | intron_variant | MODIFIER | HG02055.hp2 NA20300.hp1 |
a0002a0011 | a0002c0002a0011c0012 | a0002c0002t0001a0011c0012t0001 | a0002c0002t0001g0163 a0011c0012t0001g0095 |
2 | 245 | 0.0082 | -99 | c.29- others(116): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28260376 | ACTGCAAC others(92): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 156 | 0.0064 | -99 | c.934 others(118): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 10/11 | chr2 | TogoVar | |||||||
BAG1_chr9_33247471_33269708 | 33251886 | GAGAAGGG others(92): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01978.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0086 others(7): Show |
17 | 41 | 0.4146 | -99 | c.*32 others(110): Show |
BAG1 | ENSG00000107262.26 | transcript | ENST00000634734.3 | protein_coding | 584 | chr9 | TogoVar | |||||||
BAG5_chr14_103551551_103567657 | 103563185 | GGCCTCGG others(92): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -99 | c.-69 others(108): Show |
BAG5 | ENSG00000166170.12 | transcript | ENST00000299204.6 | protein_coding | 529 | chr14 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107584067 | ATATTATA others(92): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 HG03579.hp1 |
a0003a0007 | a0003c0003a0007c0006 | a0003c0003t0030a0003c0003t0031a0007c0006t0046 | a0003c0003t0030g0016 a0003c0003t0031g0005 a0007c0006t0046g0004 |
3 | 133 | 0.0226 | -99 | c.-84 others(118): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197513295 | AACTCAGC others(92): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0034a0001c0001t0035 | a0001c0001t0033g0043 a0001c0001t0034g0042 a0001c0001t0035g0044 |
3 | 318 | 0.0094 | -99 | c.562 others(114): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 7/7 | chr3 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71525447 | CCCCCCAC others(92): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 324 | 0.0031 | -99 | c.577 others(118): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133480073 | ACTGAAAT others(92): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 101 | 0.0099 | -99 | c.*51 others(115): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 4865 | chr3 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1061775 | AACTCCCC others(92): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0003g0290 others(7): Show |
10 | 324 | 0.0309 | -99 | c.130 others(118): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24317614 | GAAAGAAA others(92): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00741.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 others(13): Show |
16 | 361 | 0.0443 | -99 | c.212 others(118): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG8_chr19_53957937_53995215 | 53962673 | TAGCGGTG others(92): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(73): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0198 others(62): Show |
76 | 392 | 0.1939 | -99 | c.-46 others(108): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 263 | chr19 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85769101 | TACATATA others(92): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0016a0001c0002t0034others(2): Show | a0001c0002t0011g0012 a0001c0002t0011g0140 a0001c0002t0011g0143 others(4): Show |
7 | 146 | 0.0479 | -99 | c.89- others(116): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004870 | GAGGAGTT others(92): Show |
G | intron_variant | MODIFIER | HG01891.hp1 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0078 a0001c0002t0005g0079 |
2 | 388 | 0.0052 | -99 | c.-14 others(118): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004910 | AGAGGGGA others(92): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0019 | a0001c0002t0003g0047 a0001c0002t0003g0187 a0001c0002t0019g0171 |
4 | 388 | 0.0103 | -99 | c.-14 others(118): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CCDC102B_chr18_68793080_69060189 | 68857105 | TTATATAT others(92): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01081.hp2 HG01109.hp1 others(24): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0005a0003c0004others(10): Show | a0002c0002t0001a0002c0005t0001a0003c0004t0001others(11): Show | a0002c0002t0001g0006 a0002c0002t0001g0052 a0002c0002t0001g0079 others(23): Show |
27 | 155 | 0.1742 | -99 | c.936 others(118): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68857112 | TAAATATA others(92): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG03195.hp1 others(1): Show |
a0003a0008a0013 | a0003c0004a0008c0013a0013c0016 | a0003c0004t0001a0008c0013t0002a0013c0016t0001 | a0003c0004t0001g0009 a0003c0004t0001g0160 a0008c0013t0002g0126 others(1): Show |
4 | 180 | 0.0222 | -99 | c.936 others(118): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC126_chr7_23592382_23649708 | 23637204 | GGGGGGGT others(92): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 378 | 0.0026 | -99 | c.239 others(116): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882466 | GGAAAGCC others(92): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG02129.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0005a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0005g0001 a0001c0001t0005g0175 a0001c0001t0005g0177 others(7): Show |
11 | 286 | 0.0385 | -99 | c.303 others(118): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CD247_chr1_167425640_167523529 | 167434903 | TGGAGCCC others(92): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG02698.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0121 a0001c0001t0004g0141 a0001c0001t0004g0160 |
3 | 370 | 0.0081 | -99 | c.336 others(114): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
CDH12_chr5_21745673_22858344 | 21868092 | CTTTCACC others(92): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp2 HG02280.hp2 others(10): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0002g0035 others(10): Show |
13 | 52 | 0.2500 | -99 | c.527 others(118): Show |
CDH12 | ENSG00000154162.15 | transcript | ENST00000382254.6 | protein_coding | 6/14 | chr5 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61856367 | CCCCCACA others(92): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0063 | 1 | 106 | 0.0094 | -99 | c.877 others(116): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65782033 | CCTTCCTT others(92): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0024 | 1 | 206 | 0.0049 | -99 | c.210 others(118): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
CDK12_chr17_39456486_39539544 | 39499111 | CTTTCTTT others(92): Show |
C | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 257 | 0.0039 | -99 | c.242 others(118): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |