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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMTA1_chr1_6780454_7774706 | 7500275 | C | CGTGCGTA others(301): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 1 | 58 | 0.0172 | 308 | c.510 others(327): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7574105 | A | AGCTTCCA others(301): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0004a0001c0001t0012a0001c0001t0013others(4): Show | a0001c0001t0004g0026a0001c0001t0004g0034a0001c0001t0012g0019others(6): Show | 9 | 58 | 0.1552 | 308 | c.511 others(327): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7574105 | A | AGCTTCCA others(301): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02132.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0001t0002g0001a0001c0002t0003g0006a0001c0003t0001g0012others(3): Show | 6 | 58 | 0.1035 | 308 | c.511 others(327): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7574105 | A | AGCTTCCA others(301): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02922.hp2 HG03130.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0036others(7): Show | 10 | 58 | 0.1724 | 308 | c.511 others(327): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7574105 | A | AGCTTCCA others(301): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0016 | a0001c0016t0024 | a0001c0016t0024g0053 | 1 | 58 | 0.0172 | 308 | c.511 others(327): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP1_chr1_40035729_40077648 | 40059014 | T | TTGCAAAT others(301): Show |
intron_variant | MODIFIER | HG01175.hp1 HG04184.hp1 NA18940.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0189a0001c0001t0003g0200a0001c0001t0003g0208others(2): Show | 5 | 378 | 0.0132 | 308 | c.-10 others(323): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CARD10_chr22_37485362_37524415 | 37491610 | G | GAGGGAGG others(301): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0010 | a0010c0030 | a0010c0030t0001 | a0010c0030t0001g0062 | 1 | 276 | 0.0036 | 308 | c.286 others(325): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 19/19 | chr22 | TogoVar | ||||||
CARD10_chr22_37485362_37524415 | 37491621 | A | AGGGGGAG others(301): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18947.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0072a0002c0001t0001g0073 | 2 | 276 | 0.0073 | 308 | c.286 others(325): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 19/19 | chr22 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10744731 | C | CACCACGA others(301): Show |
intron_variant | MODIFIER | HG00558.hp2 HG03688.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0024 | a0001c0001t0001g0108a0001c0001t0001g0171a0001c0002t0024g0150 | 3 | 236 | 0.0127 | 308 | c.-77 others(327): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88975168 | T | TCTCTGCT others(301): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 284 | 0.0035 | 308 | c.151 others(325): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119222686 | T | TTTGTTTT others(301): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0016 | 1 | 364 | 0.0028 | 308 | c.196 others(325): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(301): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 308 | c.-22 others(319): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882279 | G | GCCGGGGG others(301): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18963.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123a0001c0001t0002g0128a0001c0001t0002g0133 | 3 | 288 | 0.0104 | 308 | c.303 others(327): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882279 | G | GCCGGGGG others(301): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 288 | 0.0035 | 308 | c.303 others(327): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293463 | C | CATCCTCA others(301): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0236 | 1 | 284 | 0.0035 | 308 | c.411 others(325): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CCSER2_chr10_84323589_84523517 | 84501838 | T | TATATATA others(301): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0133 | 1 | 370 | 0.0027 | 308 | c.232 others(329): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CD300E_chr17_74604885_74628738 | 74624067 | T | TAAAACAC others(301): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01361.hp2 HG01515.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0015a0001c0001t0001g0133a0001c0001t0002g0184others(16): Show | 27 | 450 | 0.0600 | 308 | c.-44 others(317): Show |
CD300E | ENSG00000186407.7 | transcript | ENST00000392619.2 | protein_coding | 330 | chr17 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355930 | C | CACACATA others(301): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG02895.hp2 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0013a0002c0002t0029 | a0002c0002t0013g0035a0002c0002t0013g0036a0002c0002t0029g0036 | 3 | 442 | 0.0068 | 308 | c.*28 others(319): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 770 | chr11 | TogoVar | ||||||
CDC14A_chr1_100347506_100525277 | 100473048 | T | TTCTTTTC others(301): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0010a0001c0012t0007 | a0001c0004t0010g0063a0001c0012t0007g0162 | 2 | 306 | 0.0065 | 308 | c.977 others(325): Show |
CDC14A | ENSG00000079335.20 | transcript | ENST00000336454.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21205830 | C | CTTTTTTT others(301): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0033 | 1 | 196 | 0.0051 | 308 | c.154 others(327): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(301): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0014 | a0014c0032 | a0014c0032t0036 | a0014c0032t0036g0323 | 1 | 334 | 0.0030 | 308 | c.-25 others(319): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37207505 | C | CAAAACTA others(301): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 466 | 0.0022 | 308 | c.*56 others(319): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2763 | chr2 | TogoVar | ||||||
CEBPZ_chr2_37196612_37236596 | 37207505 | C | CAAAACTA others(301): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 438 | 0.0023 | 308 | c.288 others(327): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69204022 | T | TATATAAA others(301): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 388 | 0.0026 | 308 | c.487 others(325): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881896 | C | CTATATAG others(301): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0255 | 1 | 440 | 0.0023 | 308 | c.*12 others(319): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 382 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881962 | C | CTATATAG others(301): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0023 | 2 | 440 | 0.0046 | 308 | c.*12 others(319): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 316 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881962 | C | CTATATAG others(301): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 440 | 0.0023 | 308 | c.*12 others(319): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 316 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881962 | C | CTATATAG others(301): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 440 | 0.0023 | 308 | c.*12 others(319): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 316 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881962 | C | CTATATAG others(301): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 440 | 0.0023 | 308 | c.*12 others(319): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 316 | chr13 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881962 | C | CTATATAG others(301): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 440 | 0.0023 | 308 | c.*12 others(319): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 316 | chr13 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884909 | T | TGATGCCG others(301): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0265 | 1 | 328 | 0.0031 | 308 | c.177 others(325): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHN1_chr2_174793809_175010381 | 174871204 | T | TAAAGAGG others(301): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18965.hp2 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | 276 | 0.0181 | 308 | c.549 others(325): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354193 | T | TGGGGGAG others(301): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0045 | 1 | 168 | 0.0060 | 308 | c.383 others(325): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63354345 | A | AGGGGGCT others(301): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0016 | 1 | 168 | 0.0060 | 308 | c.383 others(325): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136885 | T | TTTATATT others(301): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 152 | 0.0066 | 308 | c.432 others(327): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098422 | A | AATATATA others(301): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244a0001c0001t0001g0245 | 2 | 264 | 0.0076 | 308 | c.181 others(327): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098440 | A | AATATATA others(301): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 HG02809.hp2 others(4): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0019 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0131a0001c0001t0003g0029a0001c0001t0003g0081others(4): Show | 7 | 264 | 0.0265 | 308 | c.181 others(327): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGAAGG others(301): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0031 | 1 | 344 | 0.0029 | 308 | c.85- others(325): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203483 | A | ACATATAT others(301): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 344 | 0.0029 | 308 | c.88- others(325): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
CPB2_chr13_46048186_46110033 | 46073597 | T | TCAATGTA others(301): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0221 | 1 | 330 | 0.0030 | 308 | c.591 others(323): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCCGTGTC others(301): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0237 | 1 | 348 | 0.0029 | 308 | c.927 others(323): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCCGTGTC others(301): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 348 | 0.0029 | 308 | c.927 others(323): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89597975 | T | TCCACCCA others(301): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0158a0001c0007t0006g0159a0001c0007t0006g0160others(2): Show | 5 | 348 | 0.0144 | 308 | c.*13 others(319): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 730 | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89597985 | C | CGTCCATC others(301): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG02129.hp1 NA19004.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0073a0002c0003t0003g0125a0002c0003t0003g0137others(2): Show | 5 | 348 | 0.0144 | 308 | c.*13 others(319): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 740 | chr16 | TogoVar | ||||||
CP_chr3_149167497_149226829 | 149191550 | T | TAAGATCA others(301): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02486.hp1 others(7): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0015a0002c0002t0001g0292a0002c0002t0001g0303others(6): Show | 10 | 376 | 0.0266 | 308 | c.171 others(327): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 9/18 | chr3 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCACCC others(301): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0130 | 1 | 324 | 0.0031 | 308 | c.101 others(325): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647272 | T | TCCACAAT others(301): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0262 | 1 | 276 | 0.0036 | 308 | c.*51 others(319): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1928 | chr15 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106365679 | T | TATTTTTT others(301): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02258.hp2 HG03486.hp2 |
a0001a0002a0042 | a0001c0001a0002c0003a0042c0055 | a0001c0001t0001a0002c0003t0006a0042c0055t0001 | a0001c0001t0001g0043a0002c0003t0006g0044a0042c0055t0001g0050 | 3 | 272 | 0.0110 | 308 | c.173 others(325): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CTSS_chr1_150725188_150770778 | 150744134 | A | ATATATTA others(301): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18970.hp1 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014a0001c0001t0003g0257 | 4 | 344 | 0.0116 | 308 | c.896 others(325): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111326188 | G | GTTTGTTT others(301): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0042 | 1 | 100 | 0.0100 | 308 | c.292 others(327): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |