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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK1D_chr10_12344547_12840545 | 12775319 | T | TTGATCAG others(26): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0062 | a0001c0001t0026g0143a0001c0001t0062g0144 | 2 | 214 | 0.0094 | 33 | c.565 others(50): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12775476 | C | CTCAGGCA others(26): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0105 | 1 | 214 | 0.0047 | 33 | c.565 others(50): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12775550 | T | TTGATCAG others(26): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0062 | a0001c0001t0026g0143a0001c0001t0062g0144 | 2 | 214 | 0.0094 | 33 | c.565 others(50): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12775781 | T | TTGATCAG others(26): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0062 | a0001c0001t0026g0143a0001c0001t0062g0144 | 2 | 214 | 0.0094 | 33 | c.565 others(50): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111440628 | C | CATACATA others(26): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00735.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(9): Show | a0001c0001t0003g0014a0001c0001t0003g0015a0001c0001t0003g0194others(16): Show | 19 | 246 | 0.0772 | 33 | c.460 others(50): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44410247 | A | AGACTATA others(26): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 198 | 0.0051 | 33 | c.376 others(52): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135838462 | G | GTTCTACA others(26): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 340 | 0.0029 | 33 | c.104 others(54): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135838638 | C | CGTTCTAC others(26): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0030 | a0001c0030t0006 | a0001c0030t0006g0294 | 1 | 340 | 0.0029 | 33 | c.104 others(54): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0014 | 1 | 58 | 0.0172 | 33 | c.438 others(52): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP1_chr1_40035729_40077648 | 40076876 | G | GTTTCCTT others(26): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 378 | 0.0027 | 33 | c.*53 others(44): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4229 | chr1 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181449 | T | TCACACAC others(26): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0205a0001c0001t0001g0206others(2): Show | 6 | 460 | 0.0130 | 33 | c.193 others(50): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(26): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18998.hp1 NA19007.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096a0002c0002t0001g0119a0002c0002t0001g0145others(4): Show | 7 | 460 | 0.0152 | 33 | c.193 others(50): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181741 | C | CACACATA others(26): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 460 | 0.0022 | 33 | c.193 others(50): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38743405 | C | CAGCCCCT others(26): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0237 | 1 | 342 | 0.0029 | 33 | c.238 others(48): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30758809 | T | TTCCCTTC others(26): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019 | 1 | 384 | 0.0026 | 33 | c.775 others(48): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544870 | C | CCCCCCAC others(26): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0079 | 1 | 410 | 0.0024 | 33 | c.-22 others(50): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 550863 | G | GGTTGGTG others(26): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0123 | 1 | 410 | 0.0024 | 33 | c.206 others(50): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 550958 | C | CCCCGGTC others(26): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 410 | 0.0024 | 33 | c.206 others(50): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 551191 | G | GGTCGGTG others(26): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0072 | a0001c0001t0001a0001c0072t0004 | a0001c0001t0001g0390a0001c0072t0004g0395 | 2 | 410 | 0.0049 | 33 | c.206 others(49): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42405302 | T | TATTATTT others(26): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 306 | 0.0033 | 33 | c.178 others(50): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN6_chrX_111240099_111275483 | 111270389 | C | CCTGCTGC others(26): Show |
5_prime_UTR_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0037 | 1 | 242 | 0.0041 | 33 | c.-67 others(40): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/13 | 6454 | chrX | TogoVar | |||||
CAPRIN1_chr11_34046731_34107610 | 34079905 | G | GTTTTTTG others(26): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0017 | 1 | 246 | 0.0041 | 33 | c.826 others(48): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPZA1_chr1_112614832_112676616 | 112643869 | C | CAGTCTCT others(26): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 368 | 0.0027 | 33 | c.40- others(48): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CARD11_chr7_2901142_3048867 | 2926042 | T | TCTTGCAC others(26): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0262 | 1 | 322 | 0.0031 | 33 | c.180 others(50): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 14/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2926075 | C | CCTTGCAC others(26): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02886.hp2 |
a0001a0012 | a0001c0039a0012c0057 | a0001c0039t0001a0012c0057t0001 | a0001c0039t0001g0313a0012c0057t0001g0189 | 2 | 322 | 0.0062 | 33 | c.180 others(50): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 14/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2926104 | A | ACAGTCTT others(26): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007a0001c0012 | a0001c0001t0001a0001c0007t0001a0001c0012t0002 | a0001c0001t0001g0166a0001c0007t0001g0091a0001c0007t0001g0092others(7): Show | 10 | 322 | 0.0311 | 33 | c.180 others(50): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 14/24 | chr7 | TogoVar | ||||||
CARD9_chr9_136358956_136378669 | 136363675 | T | TCAGCAAC others(26): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG02273.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020a0001c0001t0002g0017a0001c0001t0002g0049 | 7 | 406 | 0.0172 | 33 | c.*59 others(42): Show |
CARD9 | ENSG00000187796.16 | transcript | ENST00000371732.10 | protein_coding | 280 | chr9 | TogoVar | ||||||
CARD9_chr9_136358956_136378669 | 136363705 | T | TCCGCAGC others(26): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0068 | 2 | 406 | 0.0049 | 33 | c.*59 others(42): Show |
CARD9 | ENSG00000187796.16 | transcript | ENST00000371732.10 | protein_coding | 250 | chr9 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10871637 | G | GGCGGCGG others(26): Show |
5_prime_UTR_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0262 | 1 | 354 | 0.0028 | 33 | c.-64 others(40): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 63 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
CARMIL1_chr6_25274374_25625530 | 25390320 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0154 | 1 | 186 | 0.0054 | 33 | c.139 others(52): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25453786 | T | TGAATCTC others(26): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 186 | 0.0054 | 33 | c.614 others(50): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CASC3_chr17_40135537_40177171 | 40140349 | C | CACACACA others(26): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 266 | 0.0038 | 33 | c.-20 others(42): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 187 | chr17 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113687846 | T | TTTCTTTC others(26): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0350 | 1 | 406 | 0.0025 | 33 | c.-1+ others(48): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CASQ2_chr1_115695021_115773714 | 115761426 | G | GAAGGGCA others(26): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0015 | 1 | 364 | 0.0028 | 33 | c.234 others(50): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5763847 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 336 | 0.0030 | 33 | c.150 others(50): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244480641 | T | TTTACTGA others(26): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(91): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0028others(91): Show | 94 | 206 | 0.4563 | 33 | c.326 others(48): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244584540 | A | ATATTATA others(26): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0087a0001c0003t0002g0014 | 2 | 206 | 0.0097 | 33 | c.208 others(50): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 342 | 0.0029 | 33 | c.195 others(50): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | NA19066.hp1 NA19082.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0209a0001c0001t0003g0134a0001c0001t0003g0286 | 3 | 342 | 0.0088 | 33 | c.195 others(50): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0330a0001c0001t0002g0264 | 2 | 342 | 0.0059 | 33 | c.195 others(50): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 342 | 0.0029 | 33 | c.195 others(50): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV2_chr7_116494738_116513541 | 116498923 | A | ACACACAC others(26): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 374 | 0.0027 | 33 | c.-85 others(42): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33592366 | A | AAAAAATT others(26): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 298 | 0.0034 | 33 | c.35- others(50): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251a0001c0001t0001g0254 | 2 | 298 | 0.0067 | 33 | c.510 others(50): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88887178 | C | CGCCTCCC others(26): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 284 | 0.0035 | 33 | c.712 others(50): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88953451 | T | TCCCACAG others(26): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02109.hp2 HG02451.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0103a0001c0001t0001g0110others(11): Show | 14 | 284 | 0.0493 | 33 | c.151 others(52): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975710 | G | GGGGCCCT others(26): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 284 | 0.0035 | 33 | c.151 others(48): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBY1_chr22_38651638_38678850 | 38651813 | C | CAGAAGAG others(26): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 384 | 0.0026 | 33 | c.-49 others(44): Show |
CBY1 | ENSG00000100211.12 | transcript | ENST00000216029.8 | protein_coding | 4824 | chr22 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 69009924 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 216 | 0.0046 | 33 | c.126 others(50): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC105_chr19_15005726_15028276 | 15009218 | C | CTATCACA others(26): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(145): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0029others(12): Show | a0001c0001t0001a0002c0002t0001a0002c0029t0001others(12): Show | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0001g0028others(102): Show | 148 | 440 | 0.3364 | 33 | c.-16 others(44): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 1507 | chr19 | TogoVar |