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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRM5_chr15_33963497_34072458 | 34053319 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0065 | 1 | 338 | 0.0030 | 21 | c.-76 others(38): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHRNA2_chr8_27454756_27484261 | 27480467 | A | AGAAAAGG others(14): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0004t0001 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205others(4): Show | 12 | 458 | 0.0262 | 21 | c.-17 others(32): Show |
CHRNA2 | ENSG00000120903.13 | transcript | ENST00000407991.3 | protein_coding | 1207 | chr8 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32074637 | A | ATATTATT others(14): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 307 | 0.0033 | 21 | c.196 others(40): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32074666 | A | ATTATTAT others(14): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0015 | a0003c0015t0024 | a0003c0015t0024g0208 | 1 | 307 | 0.0033 | 21 | c.196 others(40): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42693329 | T | TTAGACAT others(14): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 282 | 0.0036 | 21 | c.-42 others(32): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 4036 | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 282 | 0.0036 | 21 | c.53- others(36): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104544138 | A | AAAAAGAA others(14): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 240 | 0.0042 | 21 | c.119 others(40): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104637302 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0092 | 1 | 240 | 0.0042 | 21 | c.204 others(40): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST15_chr10_124002668_124098598 | 124045112 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01934.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0162a0001c0003t0002g0173 | 2 | 392 | 0.0051 | 21 | c.547 others(36): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618626 | C | CTCTTCTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0178a0001c0001t0001g0206a0001c0001t0001g0215others(2): Show | 5 | 254 | 0.0197 | 21 | c.-38 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3326 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618626 | C | CTCTTCTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0021 | 2 | 254 | 0.0079 | 21 | c.-38 others(32): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3326 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33695821 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0181 | 2 | 254 | 0.0079 | 21 | c.130 others(38): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757477 | A | AGGAAGGA others(14): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 254 | 0.0039 | 21 | c.131 others(40): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GAAAGAAA others(14): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 254 | 0.0039 | 21 | c.131 others(40): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST9_chr18_26901481_27190308 | 27053130 | G | GGAAGAAG others(14): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 262 | 0.0038 | 21 | c.122 others(38): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053130 | G | GGAAGAAG others(14): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 262 | 0.0038 | 21 | c.122 others(38): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053218 | G | GGAAGAAG others(14): Show |
intron_variant | MODIFIER | HG00423.hp2 HG04199.hp2 NA18960.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(1): Show | a0001c0001t0001g0233a0001c0001t0009g0116a0001c0001t0011g0097others(1): Show | 4 | 262 | 0.0153 | 21 | c.122 others(38): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053256 | A | AAGAAGAA others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01496.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0034a0001c0001t0040others(1): Show | a0001c0001t0005g0075a0001c0001t0034g0091a0001c0001t0040g0061others(1): Show | 4 | 262 | 0.0153 | 21 | c.122 others(38): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053256 | A | AAGAAGAA others(14): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01261.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0066 | a0001c0001t0003g0225a0001c0001t0008g0014a0001c0001t0066g0039 | 3 | 262 | 0.0115 | 21 | c.122 others(38): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101251479 | G | GGCCGCCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(76): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0003a0001c0003t0007a0001c0003t0051others(16): Show | a0001c0001t0003g0234a0001c0001t0003g0240a0001c0003t0007g0019others(71): Show | 79 | 422 | 0.1872 | 21 | c.-24 others(28): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/3 | 24 | chr15 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 795580 | G | GCGGCCCC others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02080.hp2 HG03927.hp1 others(10): Show |
a0006a0047a0052 | a0006c0006a0047c0050a0052c0052 | a0006c0006t0001a0047c0050t0001a0052c0052t0001 | a0006c0006t0001g0011a0006c0006t0001g0017a0006c0006t0001g0071others(6): Show | 13 | 428 | 0.0304 | 21 | c.217 others(38): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CIAPIN1_chr16_57423187_57452385 | 57435480 | T | TTGGCATA others(14): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 390 | 0.0026 | 21 | c.387 others(38): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 4/8 | chr16 | TogoVar | ||||||
CIART_chr1_150277554_150292093 | 150284003 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01243.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0003g0014a0001c0001t0005g0032a0001c0001t0011g0014others(1): Show | 8 | 416 | 0.0192 | 21 | c.442 others(36): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CIART_chr1_150277554_150292093 | 150284003 | T | TTTATTGT others(14): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0011a0001c0001t0006g0029a0001c0001t0013g0011 | 8 | 416 | 0.0192 | 21 | c.442 others(36): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CIB4_chr2_26576205_26646366 | 26589042 | T | TTCTTCTT others(14): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18983.hp1 |
a0002a0004 | a0002c0002a0004c0008 | a0002c0002t0002a0004c0008t0002 | a0002c0002t0002g0129a0004c0008t0002g0151 | 2 | 344 | 0.0058 | 21 | c.329 others(38): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26590258 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 344 | 0.0029 | 21 | c.328 others(38): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12270688 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0364 | 1 | 448 | 0.0022 | 21 | c.331 others(38): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAAAA others(14): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0292 | 1 | 372 | 0.0027 | 21 | c.232 others(38): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174356526 | A | AGGAAGGA others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0137 | 2 | 348 | 0.0058 | 21 | c.485 others(38): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119717838 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02027.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0019a0001c0001t0021g0171 | 2 | 236 | 0.0085 | 21 | c.416 others(38): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119745374 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18906.hp2 |
a0001 | a0001c0017 | a0001c0017t0003 | a0001c0017t0003g0012a0001c0017t0003g0013 | 2 | 236 | 0.0085 | 21 | c.290 others(40): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | ||||||
CKAP4_chr12_106232881_106253020 | 106237526 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01099.hp1 others(7): Show |
a0002a0003a0011 | a0002c0002a0003c0003a0003c0004others(1): Show | a0002c0002t0003a0003c0003t0003a0003c0003t0006others(5): Show | a0002c0002t0003g0086a0003c0003t0003g0014a0003c0003t0006g0008others(6): Show | 10 | 418 | 0.0239 | 21 | c.*14 others(32): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 354 | chr12 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33568553 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02300.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0002g0054a0001c0001t0002g0056a0001c0001t0003g0030others(11): Show | 14 | 278 | 0.0504 | 21 | c.276 others(40): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 26/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33571015 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG01175.hp2 others(15): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0012t0003 | a0001c0001t0002g0021a0001c0001t0002g0022a0001c0001t0002g0027others(15): Show | 18 | 278 | 0.0648 | 21 | c.270 others(38): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 25/38 | chr3 | TogoVar | ||||||
CLASRP_chr19_45034045_45075956 | 45063436 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02015.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242a0001c0001t0001g0257 | 2 | 364 | 0.0055 | 21 | c.906 others(36): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169720526 | T | TCTCTCTC others(14): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0221 | 1 | 288 | 0.0035 | 21 | c.*52 others(30): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 13/13 | 530 | chr4 | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10153138 | T | TATTATAT others(14): Show |
upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 264 | 0.0038 | 21 | c.-42 others(32): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3836 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10191692 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 264 | 0.0038 | 21 | c.245 others(38): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10209289 | C | CTCCCTCC others(14): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0004a0001c0002t0013 | a0001c0001t0009g0061a0001c0002t0004g0085a0001c0002t0013g0035 | 3 | 264 | 0.0114 | 21 | c.138 others(38): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLDN19_chr1_42728093_42745236 | 42729449 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 428 | 0.0023 | 21 | c.*56 others(32): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3643 | chr1 | TogoVar | ||||||
CLDN19_chr1_42728093_42745236 | 42729451 | A | AAAAATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 21 | c.*56 others(32): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3641 | chr1 | TogoVar | ||||||
CLDN19_chr1_42728093_42745236 | 42729451 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0004 | a0001c0001t0001g0001a0001c0001t0013g0051a0001c0002t0004g0008 | 5 | 428 | 0.0117 | 21 | c.*56 others(32): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3641 | chr1 | TogoVar | ||||||
CLDN23_chr8_8696937_8709096 | 8705594 | T | TAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 438 | 0.0023 | 21 | c.*23 others(32): Show |
CLDN23 | ENSG00000253958.2 | transcript | ENST00000519106.2 | protein_coding | 1499 | chr8 | TogoVar | ||||||
CLDN7_chr17_7254903_7267478 | 7265112 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG03130.hp1 NA18522.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 4 | 418 | 0.0096 | 21 | c.-30 others(32): Show |
CLDN7 | ENSG00000181885.18 | transcript | ENST00000360325.11 | protein_coding | 2635 | chr17 | TogoVar | ||||||
CLEC16A_chr16_10939564_11187186 | 11036544 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0008 | a0001c0008t0024 | a0001c0008t0024g0052 | 1 | 274 | 0.0037 | 21 | c.153 others(40): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLEC18C_chr16_70168787_70191895 | 70174154 | T | TCCTTCTT others(14): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0026 | a0026c0013 | a0026c0013t0015 | a0026c0013t0015g0046 | 1 | 355 | 0.0028 | 21 | c.-10 others(36): Show |
CLEC18C | ENSG00000157335.21 | transcript | ENST00000541793.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLEC1B_chr12_9988075_10004121 | 10002440 | G | GTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 462 | 0.0022 | 21 | c.-33 others(32): Show |
CLEC1B | ENSG00000165682.15 | transcript | ENST00000298527.11 | protein_coding | 3320 | chr12 | TogoVar | ||||||
CLEC3B_chr3_45021303_45041071 | 45036539 | C | CTGGGCCT others(14): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007a0002c0002t0002g0027 | 9 | 376 | 0.0239 | 21 | c.*61 others(30): Show |
CLEC3B | ENSG00000163815.6 | transcript | ENST00000296130.5 | protein_coding | 469 | chr3 | TogoVar | ||||||
CLEC3B_chr3_45021303_45041071 | 45036539 | C | CTGGGCCT others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(276): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(49): Show | 279 | 376 | 0.7420 | 21 | c.*61 others(30): Show |
CLEC3B | ENSG00000163815.6 | transcript | ENST00000296130.5 | protein_coding | 469 | chr3 | TogoVar | ||||||
CLEC4C_chr12_7724383_7752375 | 7750822 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0050a0001c0001t0004g0225 | 2 | 448 | 0.0045 | 21 | c.-34 others(32): Show |
CLEC4C | ENSG00000198178.11 | transcript | ENST00000360345.8 | protein_coding | 3448 | chr12 | TogoVar |