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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPLX2_chr5_175866578_175889021 | 175871458 | A | AGAGAGAG others(20): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 212 | 0.0047 | 27 | c.-33 others(36): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 119 | chr5 | TogoVar | |||||||
CPLX2_chr5_175866578_175889021 | 175871464 | A | AGAGAGAG others(20): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0004 | 1 | 332 | 0.0030 | 27 | c.-33 others(36): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 113 | chr5 | TogoVar | |||||||
CPNE3_chr8_86509435_86566498 | 86527946 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03579.hp1 NA20300.hp1 |
a0003a0004 | a0003c0004a0004c0006 | a0003c0004t0004a0004c0006t0011 | a0003c0004t0004g0169 a0004c0006t0011g0154 |
2 | 111 | 0.0180 | 27 | c.-10 others(42): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131698233 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0071 | 1 | 46 | 0.0217 | 27 | c.433 others(44): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 4/15 | chr3 | TogoVar | |||||||
CPNE5_chr6_36735775_36844444 | 36768225 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0206 | 1 | 69 | 0.0145 | 27 | c.738 others(44): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587718 | A | ACCCCCGT others(20): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0200 | 1 | 333 | 0.0030 | 27 | c.927 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587718 | A | ACCCGCGT others(20): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0152 | 1 | 333 | 0.0030 | 27 | c.927 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587744 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 216 | 0.0046 | 27 | c.927 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587744 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0151 | 1 | 216 | 0.0046 | 27 | c.927 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587744 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 216 | 0.0046 | 27 | c.927 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587765 | C | CACCCACA others(20): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 322 | 0.0031 | 27 | c.927 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587829 | C | CACCCACA others(20): Show |
intron_variant | MODIFIER | NA18946.hp1 NA19011.hp2 |
a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0267 a0003c0006t0003g0268 |
2 | 340 | 0.0059 | 27 | c.927 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587909 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18998.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0176 a0001c0002t0004g0125 |
2 | 254 | 0.0079 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587909 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0195 | 1 | 253 | 0.0040 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587909 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 253 | 0.0040 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587947 | C | CCCCCCCG others(20): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0076 | 1 | 321 | 0.0031 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588117 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0309 | 1 | 249 | 0.0040 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588132 | G | GCGTGTCA others(20): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02735.hp2 NA20905.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002a0001c0002t0004 | a0001c0001t0008g0050 a0001c0002t0002g0199 a0001c0002t0004g0138 |
3 | 302 | 0.0099 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588154 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0004a0002c0004t0002 | a0002c0003t0004g0301 a0002c0004t0002g0302 |
2 | 222 | 0.0090 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588154 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18980.hp1 NA18994.hp2 |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0006 | a0001c0001t0001a0002c0004t0014a0003c0006t0003 | a0001c0001t0001g0089 a0002c0004t0014g0300 a0003c0006t0003g0149 |
3 | 223 | 0.0135 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588154 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 221 | 0.0045 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588191 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02109.hp1 HG04204.hp1 |
a0001a0002 | a0001c0002a0001c0008a0002c0003 | a0001c0002t0002a0001c0008t0002a0002c0003t0002 | a0001c0002t0002g0200 a0001c0008t0002g0016 a0002c0003t0002g0119 |
3 | 212 | 0.0142 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588206 | G | GCGTGTCA others(20): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp2 others(25): Show |
a0001a0002a0006 | a0001c0002a0001c0005a0002c0003others(3): Show | a0001c0002t0005a0001c0005t0002a0002c0003t0004others(3): Show | a0001c0002t0005g0024 a0001c0005t0002g0001 a0001c0005t0002g0042 others(18): Show |
28 | 259 | 0.1081 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588228 | G | GCCCCCGT others(20): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0191 | 1 | 335 | 0.0030 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588239 | A | ACCCACAG others(20): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 345 | 0.0029 | 27 | c.928 others(42): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38902381 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 247 | 0.0040 | 27 | c.98+ others(42): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCCT others(20): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03579.hp1 |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0001a0004c0006t0001 | a0001c0002t0001g0098 a0004c0006t0001g0076 |
2 | 19 | 0.1053 | 27 | c.850 others(46): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCCT others(20): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18990.hp1 NA19005.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 a0001c0002t0001g0086 a0001c0002t0001g0095 |
3 | 20 | 0.1500 | 27 | c.850 others(46): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96926576 | C | CTCTTCTT others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03516.hp2 NA18522.hp1 |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0002a0009c0013t0001 | a0001c0001t0002g0020 a0001c0001t0002g0024 a0009c0013t0001g0043 |
3 | 20 | 0.1500 | 27 | c.850 others(46): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92165854 | C | CTTTTTTT others(20): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 NA18964.hp2 NA19003.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0037a0001c0001t0069a0001c0001t0070others(2): Show | a0001c0001t0037g0124 a0001c0001t0069g0115 a0001c0001t0070g0034 others(2): Show |
5 | 79 | 0.0633 | 27 | c.*41 others(38): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 4136 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF3_chr2_9418654_9478101 | 9436774 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 120 | 0.0083 | 27 | c.760 others(42): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 161 | 0.0062 | 27 | c.103 others(44): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440675 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0091 | 1 | 333 | 0.0030 | 27 | c.103 others(44): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
CPSF4_chr7_99433943_99462373 | 99446771 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0102 | 1 | 96 | 0.0104 | 27 | c.155 others(44): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF6_chr12_69234569_69279358 | 69266200 | T | TCTGAGGT others(20): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0207 | 1 | 390 | 0.0026 | 27 | c.*4- others(42): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8605330 | C | CTATCCAT others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(36): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0012a0001c0048others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0002others(12): Show | a0001c0001t0001g0038 a0001c0001t0001g0110 a0001c0001t0001g0168 others(24): Show |
39 | 402 | 0.0970 | 27 | c.710 others(42): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8605580 | C | CATCCATC others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0012others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(18): Show | a0001c0001t0001g0038 a0001c0001t0001g0110 a0001c0001t0001g0168 others(61): Show |
85 | 426 | 0.1995 | 27 | c.710 others(42): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8609155 | C | CTCACTCA others(20): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01175.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 3 | 437 | 0.0069 | 27 | c.122 others(46): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56314410 | C | CGGAGCGG others(20): Show |
disruptive_inframe_insertion | MODERATE | NA20129.hp2 | a0030 | a0030c0025 | a0030c0025t0006 | a0030c0025t0006g0045 | 1 | 178 | 0.0056 | 27 | c.923 others(34): Show |
p.Arg others(40): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 8/11 | 1461/7044 | 924/3702 | 308/1233 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
CRACR2A_chr12_3610328_3758109 | 3639457 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG01981.hp2 HG04199.hp2 NA18965.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0180 a0002c0002t0001g0038 a0002c0002t0001g0230 |
3 | 78 | 0.0385 | 27 | c.127 others(46): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 13/19 | chr12 | TogoVar | |||||||
CRACR2A_chr12_3610328_3758109 | 3643856 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00639.hp1 others(68): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0018a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0018t0001others(10): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0040 others(68): Show |
71 | 313 | 0.2268 | 27 | c.116 others(44): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 12/19 | chr12 | TogoVar | |||||||
CRBN_chr3_3145011_3184691 | 3181984 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 354 | 0.0028 | 27 | c.-22 others(38): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 2294 | chr3 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28712524 | T | TTTATTAT others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG00741.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0084 a0001c0001t0002g0033 a0001c0001t0002g0094 others(33): Show |
36 | 137 | 0.2628 | 27 | c.465 others(44): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28712524 | T | TTTTTTAT others(20): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0070 | 1 | 102 | 0.0098 | 27 | c.465 others(44): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3759588 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03516.hp1 |
a0001 | a0001c0027a0001c0033 | a0001c0027t0007a0001c0033t0004 | a0001c0027t0007g0007 a0001c0033t0004g0234 |
2 | 213 | 0.0094 | 27 | c.325 others(44): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 16/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849433 | G | GTGTGTGT others(20): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0004 | a0004c0010 | a0004c0010t0047 | a0004c0010t0047g0249 | 1 | 273 | 0.0037 | 27 | c.798 others(42): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREG1_chr1_167536013_167558762 | 167540386 | T | TAGCAGCA others(20): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG03491.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 32 | 0.0938 | 27 | c.*18 others(38): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 626 | chr1 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49926810 | G | GGTCCCCT others(20): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 322 | 0.0031 | 27 | c.101 others(44): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRISP1_chr6_49829257_49871535 | 49844563 | T | TGAGGCTG others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0022 a0002c0003t0004g0053 a0002c0003t0004g0054 others(2): Show |
6 | 376 | 0.0160 | 27 | c.435 others(44): Show |
CRISP1 | ENSG00000124812.15 | transcript | ENST00000335847.9 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1191361 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18951.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0106 a0001c0008t0001g0142 |
2 | 111 | 0.0180 | 27 | c.853 others(42): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar |