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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST11_chr12_104451948_104767014 | 104590013 | T | TTAAATAA others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0003 | 1 | 240 | 0.0042 | 16 | c.119 others(35): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104686232 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01346.hp1 NA18945.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0022 a0001c0001t0002g0108 a0001c0001t0003g0075 others(2): Show |
5 | 240 | 0.0208 | 16 | c.205 others(35): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104722155 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02109.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0025others(4): Show | a0001c0001t0002g0101 a0001c0001t0002g0204 a0001c0001t0002g0208 others(7): Show |
10 | 240 | 0.0417 | 16 | c.205 others(35): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104750428 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02155.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0118 a0001c0001t0002g0064 |
3 | 240 | 0.0125 | 16 | c.205 others(33): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104756532 | G | GGGGTGTG others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18944.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0071 | a0001c0001t0002g0108 a0001c0001t0010g0038 a0001c0001t0071g0174 |
3 | 240 | 0.0125 | 16 | c.205 others(31): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104756532 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00733.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(37): Show |
40 | 240 | 0.1667 | 16 | c.205 others(31): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104761464 | T | TACACACA others(9): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG02451.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0037a0001c0001t0053others(3): Show | a0001c0001t0031g0010 a0001c0001t0031g0013 a0001c0001t0037g0069 others(4): Show |
7 | 240 | 0.0292 | 16 | c.*36 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 3/3 | 3699 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2432141 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0005 | a0005c0005t0109 | a0005c0005t0109g0033 | 1 | 344 | 0.0029 | 16 | c.-77 others(31): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2434118 | C | CCGCCCGC others(9): Show |
3_prime_UTR_variant | MODIFIER | NA18998.hp2 | a0003 | a0003c0003 | a0003c0003t0030 | a0003c0003t0030g0213 | 1 | 344 | 0.0029 | 16 | c.*24 others(25): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 242 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST13_chr3_126519155_126548291 | 126523553 | A | AACACACA others(9): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG03579.hp1 |
a0003 | a0003c0004a0003c0007 | a0003c0004t0001a0003c0007t0001 | a0003c0004t0001g0016 a0003c0007t0001g0098 |
3 | 364 | 0.0082 | 16 | c.-78 others(25): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 601 | chr3 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124045112 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02723.hp2 NA18952.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0004a0001c0012t0031 | a0001c0001t0004g0141 a0001c0012t0031g0100 |
2 | 392 | 0.0051 | 16 | c.547 others(31): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124096084 | A | AAAGAAAA others(9): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 NA19078.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0011t0005 | a0001c0001t0003g0315 a0001c0011t0005g0314 |
2 | 392 | 0.0051 | 16 | c.-31 others(27): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2487 | chr10 | TogoVar | |||||||
CHST3_chr10_71959395_72018558 | 72017812 | C | CTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02965.hp1 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0009a0001c0010a0001c0020others(1): Show | a0001c0009t0014a0001c0010t0014a0001c0020t0014others(1): Show | a0001c0009t0014g0171 a0001c0009t0014g0250 a0001c0010t0014g0278 others(2): Show |
5 | 372 | 0.0134 | 16 | c.*93 others(27): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 4255 | chr10 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75491188 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0041 | 1 | 371 | 0.0027 | 16 | c.-92 others(33): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33694093 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | NA18974.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094 a0001c0001t0002g0052 |
2 | 254 | 0.0079 | 16 | c.130 others(33): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33695821 | C | CTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0204 a0001c0001t0001g0208 |
3 | 254 | 0.0118 | 16 | c.130 others(33): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27000622 | G | GTCTATCT others(9): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0004g0095 a0001c0001t0004g0254 a0001c0001t0007g0122 others(9): Show |
12 | 262 | 0.0458 | 16 | c.202 others(35): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27047388 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp2 HG01169.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0005g0034 others(6): Show |
9 | 262 | 0.0344 | 16 | c.160 others(33): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 3/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27053187 | A | AAGAACAA others(9): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0002 | 1 | 262 | 0.0038 | 16 | c.122 others(33): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 129932140 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0226 | 1 | 276 | 0.0036 | 16 | c.108 others(37): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020461 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0022 | a0001c0022t0006 | a0001c0022t0006g0266 | 1 | 276 | 0.0036 | 16 | c.108 others(39): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130125416 | C | CAGATAGA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01361.hp2 HG01928.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(6): Show | a0001c0001t0002g0148 a0001c0001t0002g0195 a0001c0001t0002g0201 others(13): Show |
16 | 276 | 0.0580 | 16 | c.108 others(37): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130125438 | G | GATAGATA others(9): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 |
a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0243 a0002c0007t0008g0244 |
2 | 276 | 0.0073 | 16 | c.108 others(37): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130128229 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19043.hp1 |
a0002a0006 | a0002c0003a0006c0011 | a0002c0003t0002a0006c0011t0008 | a0002c0003t0002g0225 a0006c0011t0008g0138 |
2 | 276 | 0.0073 | 16 | c.108 others(37): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130143730 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG03130.hp1 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0009 | a0001c0002t0001a0002c0003t0001a0004c0009t0004 | a0001c0002t0001g0106 a0002c0003t0001g0230 a0004c0009t0004g0135 others(1): Show |
4 | 276 | 0.0145 | 16 | c.108 others(37): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130143734 | G | GTGTGTAT others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01168.hp1 |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0260 a0002c0003t0006g0261 a0002c0003t0006g0265 |
3 | 276 | 0.0109 | 16 | c.108 others(37): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130143756 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0143 | 1 | 276 | 0.0036 | 16 | c.108 others(37): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130178253 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0066 | 1 | 276 | 0.0036 | 16 | c.108 others(35): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHUK_chr10_100183300_100234596 | 100210064 | G | GTTATTTA others(9): Show |
intron_variant | MODIFIER | HG01496.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0203 |
2 | 402 | 0.0050 | 16 | c.934 others(31): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
CHUK_chr10_100183300_100234596 | 100210091 | A | ATTTATTT others(9): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 402 | 0.0025 | 16 | c.934 others(31): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
CHUK_chr10_100183300_100234596 | 100228993 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02109.hp1 HG02572.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 others(6): Show |
9 | 402 | 0.0224 | 16 | c.105 others(31): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
CHUK_chr10_100183300_100234596 | 100228993 | G | GCGCACAC others(9): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18994.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 |
3 | 402 | 0.0075 | 16 | c.105 others(31): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
CHUK_chr10_100183300_100234596 | 100229376 | A | AAACCCAC others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0050 |
4 | 402 | 0.0100 | 16 | c.105 others(29): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
CIB2_chr15_78099606_78136445 | 78117246 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01943.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0206 a0001c0001t0001g0207 others(2): Show |
5 | 390 | 0.0128 | 16 | c.87- others(31): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26601217 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0165 |
2 | 344 | 0.0058 | 16 | c.187 others(33): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26617120 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01175.hp2 HG01192.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0002t0002others(2): Show | a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0218 others(6): Show |
9 | 344 | 0.0262 | 16 | c.186 others(35): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26617145 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0002 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(5): Show |
8 | 344 | 0.0233 | 16 | c.186 others(35): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26617147 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0240 a0001c0001t0002g0238 |
2 | 344 | 0.0058 | 16 | c.186 others(35): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26617147 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01081.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0044 a0001c0001t0001g0219 a0001c0001t0001g0222 others(26): Show |
29 | 344 | 0.0843 | 16 | c.186 others(35): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26617147 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0005 | a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 others(3): Show |
7 | 344 | 0.0204 | 16 | c.186 others(35): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93695813 | G | GCAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 NA18982.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0093 |
4 | 374 | 0.0107 | 16 | c.-48 others(27): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 4736 | chr8 | TogoVar | |||||||
CIDEA_chr18_12249361_12282595 | 12252655 | T | TATCTATC others(9): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 448 | 0.0022 | 16 | c.-17 others(27): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 1705 | chr18 | TogoVar | |||||||
CIDEA_chr18_12249361_12282595 | 12254563 | C | CCCGCGCA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(219): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 others(189): Show |
222 | 448 | 0.4955 | 16 | c.38+ others(29): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12270688 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0371 a0002c0002t0001g0362 |
2 | 448 | 0.0045 | 16 | c.331 others(33): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10893804 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0279 | 1 | 392 | 0.0026 | 16 | c.53- others(31): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10913942 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02451.hp2 others(3): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0008c0013others(2): Show | a0001c0001t0065a0001c0001t0121a0002c0002t0115others(3): Show | a0001c0001t0065g0219 a0001c0001t0121g0115 a0002c0002t0115g0143 others(3): Show |
6 | 392 | 0.0153 | 16 | c.288 others(35): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10919503 | C | CTTATTTA others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02083.hp1 NA18943.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(10): Show | a0001c0001t0001g0324 a0001c0003t0001g0241 a0001c0003t0001g0370 others(13): Show |
17 | 392 | 0.0434 | 16 | c.314 others(34): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CILK1_chr6_52996303_53066824 | 53043819 | T | TATGCTTA others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(225): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(165): Show |
228 | 244 | 0.9344 | 16 | c.-17 others(35): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
CINP_chr14_102343282_102367890 | 102359227 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00544.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0122 others(7): Show |
27 | 420 | 0.0643 | 16 | c.176 others(31): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
CINP_chr14_102343282_102367890 | 102359234 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0109 | 1 | 420 | 0.0024 | 16 | c.176 others(31): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 2/4 | chr14 | TogoVar |