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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPE_chr4_165374008_165503547 | 165461186 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 332 | 0.0030 | 27 | c.308 others(44): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPLX1_chr4_779957_831129 | 792241 | T | TGGGCCCC others(20): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 416 | 0.0024 | 27 | c.207 others(42): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 3/3 | chr4 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871410 | G | GAGAGAGA others(20): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 378 | 0.0027 | 27 | c.-38 others(36): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 167 | chr5 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871456 | A | AGAGAGAG others(20): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG02132.hp1 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0023 | a0001c0001t0002g0013a0001c0001t0006g0002a0001c0001t0023g0027 | 3 | 378 | 0.0079 | 27 | c.-33 others(36): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 121 | chr5 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871456 | A | AGAGAGAG others(20): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | 27 | c.-33 others(36): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 121 | chr5 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871456 | A | AGAGAGAG others(20): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | 27 | c.-33 others(36): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 121 | chr5 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871458 | A | AGAGAGAG others(20): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 378 | 0.0027 | 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 | 378 | 0.0027 | 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 | a0003c0004t0004g0169a0004c0006t0011g0154 | 2 | 340 | 0.0059 | 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 | 94 | 0.0106 | 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 | 380 | 0.0026 | 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 | a0001c0002t0002g0210 | 1 | 348 | 0.0029 | 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 | a0003c0006t0003g0145 | 1 | 348 | 0.0029 | 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 | a0001c0001t0001g0285 | 1 | 348 | 0.0029 | 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 | a0003c0006t0003g0148 | 1 | 348 | 0.0029 | 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 | 348 | 0.0029 | 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 | a0001c0001t0001g0154 | 1 | 348 | 0.0029 | 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 | a0003c0006t0003g0274a0003c0006t0003g0275 | 2 | 348 | 0.0058 | 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 | a0001c0002t0003g0180a0001c0002t0004g0123 | 2 | 348 | 0.0058 | 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 | a0001c0002t0011g0200 | 1 | 348 | 0.0029 | 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 | a0001c0001t0001g0103 | 1 | 348 | 0.0029 | 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 | a0001c0005t0002g0072 | 1 | 348 | 0.0029 | 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 | a0002c0004t0002g0311 | 1 | 348 | 0.0029 | 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 | a0001c0001t0008g0055a0001c0002t0002g0204a0001c0002t0004g0134 | 3 | 348 | 0.0086 | 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 | a0002c0003t0004g0306a0002c0004t0002g0307 | 2 | 348 | 0.0058 | 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 | a0001c0001t0001g0103a0002c0004t0014g0305a0003c0006t0003g0144 | 3 | 348 | 0.0086 | 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 | a0001c0001t0001g0273 | 1 | 348 | 0.0029 | 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 | a0001c0002t0002g0210a0001c0008t0002g0012a0002c0003t0002g0119 | 3 | 348 | 0.0086 | 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(26): Show |
a0001a0002a0010 | a0001c0002a0001c0005a0002c0003others(3): Show | a0001c0002t0002a0001c0002t0005a0001c0005t0002others(4): Show | a0001c0002t0002g0042a0001c0002t0005g0020a0001c0005t0002g0002others(21): Show | 29 | 348 | 0.0833 | 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 | a0001c0002t0005g0197 | 1 | 348 | 0.0029 | 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 | a0001c0001t0001g0214 | 1 | 348 | 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 | a0001c0001t0001g0124 | 1 | 342 | 0.0029 | 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 | a0001c0002t0001g0098a0004c0006t0001g0075 | 2 | 126 | 0.0159 | 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 | a0001c0002t0001g0066a0001c0002t0001g0086a0001c0002t0001g0095 | 3 | 126 | 0.0238 | 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 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0002a0005c0013t0001 | a0001c0001t0002g0020a0001c0001t0002g0024a0005c0013t0001g0043 | 3 | 126 | 0.0238 | 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 | a0001c0001t0037g0129a0001c0001t0069g0124a0001c0001t0070g0032others(2): Show | 5 | 388 | 0.0129 | 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 | a0001c0001t0001g0017 | 1 | 230 | 0.0044 | 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 | a0001c0001t0002g0059 | 1 | 364 | 0.0028 | 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 | a0001c0003t0002g0087 | 1 | 364 | 0.0028 | 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 | a0001c0003t0002g0111 | 1 | 364 | 0.0028 | 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 | a0001c0001t0014g0262 | 1 | 392 | 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 | a0001c0001t0001g0037a0001c0001t0001g0111a0001c0001t0001g0170others(24): Show | 39 | 442 | 0.0882 | 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 | a0001c0001t0001g0037a0001c0001t0001g0111a0001c0001t0001g0170others(61): Show | 85 | 442 | 0.1923 | 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 | 442 | 0.0068 | 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 | a0020 | a0020c0025 | a0020c0025t0006 | a0020c0025t0006g0045 | 1 | 250 | 0.0040 | 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 | a0001c0001t0001g0188a0002c0002t0001g0044a0002c0002t0001g0252 | 3 | 320 | 0.0094 | 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 | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0035others(68): Show | 71 | 320 | 0.2219 | 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 | a0001c0001t0001g0103 | 1 | 376 | 0.0027 | 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 | a0001c0001t0001g0084a0001c0001t0002g0033a0001c0001t0002g0094others(33): Show | 36 | 198 | 0.1818 | 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 | 198 | 0.0051 | 27 | c.465 others(44): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |