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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST11_chr12_104451948_104767014 | 104637302 | TAAAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0007a0001c0001t0001g0033a0001c0001t0001g0034others(43): Show | 46 | 240 | 0.1917 | -7 | c.204 others(26): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2432141 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02257.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0005 | a0001c0001t0181a0001c0001t0182a0001c0001t0183others(4): Show | a0001c0001t0181g0273a0001c0001t0182g0163a0001c0001t0183g0162others(4): Show | 7 | 344 | 0.0204 | -7 | c.-77 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST14_chr15_40465984_40478158 | 40476550 | CTTTCTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(127): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(7): Show | 130 | 412 | 0.3155 | -7 | c.*42 others(18): Show |
CHST14 | ENSG00000169105.8 | transcript | ENST00000306243.7 | protein_coding | 3393 | chr15 | TogoVar | ||||||
CHST5_chr16_75523530_75541108 | 75523729 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(201): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0014others(59): Show | 204 | 394 | 0.5178 | -7 | c.*54 others(18): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 4800 | chr16 | TogoVar | ||||||
CHST7_chrX_46568765_46603496 | 46570789 | GAAGAAGA | G | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 311 | 0.0032 | -7 | c.-31 others(18): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 2975 | chrX | TogoVar | ||||||
CHST7_chrX_46568765_46603496 | 46584024 | AGTTCTTC | A | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 311 | 0.0032 | -7 | c.*31 others(24): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | chrX | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33718283 | ATCATAGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0022a0001c0001t0001g0028a0001c0001t0001g0033others(136): Show | 139 | 254 | 0.5472 | -7 | c.130 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33738585 | GTTTTTTC | G | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0038a0001c0001t0001g0139 | 3 | 254 | 0.0118 | -7 | c.131 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33770906 | GGCCTGGT | G | intron_variant | MODIFIER | HG01975.hp2 HG01993.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0136a0001c0001t0002g0036a0001c0001t0002g0045 | 3 | 254 | 0.0118 | -7 | c.131 others(22): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST9_chr18_26901481_27190308 | 27014453 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0013others(9): Show | a0001c0001t0007g0032a0001c0001t0007g0122a0001c0001t0008g0014others(15): Show | 18 | 262 | 0.0687 | -7 | c.202 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 129906890 | AAGGAATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(121): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0014others(16): Show | a0001c0001t0001g0231a0001c0002t0001g0003a0001c0002t0001g0007others(121): Show | 124 | 276 | 0.4493 | -7 | c.803 others(24): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130088367 | TTAAACTA | T | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01123.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0007others(4): Show | a0001c0001t0006a0001c0001t0013a0001c0001t0017others(13): Show | a0001c0001t0006g0259a0001c0001t0006g0264a0001c0001t0006g0267others(37): Show | 40 | 276 | 0.1449 | -7 | c.108 others(28): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 795544 | CAAACACA | C | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02895.hp1 others(1): Show |
a0004a0032 | a0004c0021a0032c0044 | a0004c0021t0001a0032c0044t0001 | a0004c0021t0001g0022a0004c0021t0001g0048a0032c0044t0001g0047 | 4 | 428 | 0.0094 | -7 | c.217 others(24): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | chr16 | TogoVar | ||||||
CHTF8_chr16_69113010_69137588 | 69134643 | GAAGAACA | G | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02145.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0172a0001c0001t0001g0173others(3): Show | 7 | 364 | 0.0192 | -7 | c.-22 others(18): Show |
CHTF8 | ENSG00000168802.14 | transcript | ENST00000448552.7 | protein_coding | 2056 | chr16 | TogoVar | ||||||
CIAO1_chr2_96261225_96279173 | 96273662 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 NA18939.hp2 NA18946.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022a0001c0001t0007g0023a0001c0001t0007g0036others(2): Show | 7 | 404 | 0.0173 | -7 | c.*23 others(18): Show |
CIAO1 | ENSG00000144021.3 | transcript | ENST00000488633.2 | protein_coding | 7/7 | 2329 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CIB2_chr15_78099606_78136445 | 78135010 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00733.hp2 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0025others(34): Show | 45 | 390 | 0.1154 | -7 | c.-38 others(18): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 3566 | chr15 | TogoVar | ||||||
CIB3_chr19_16156368_16178525 | 16161673 | CTTTTTTT | C | intron_variant | MODIFIER | HG01361.hp1 HG02615.hp1 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0044a0001c0001t0001g0107others(5): Show | 10 | 378 | 0.0265 | -7 | c.543 others(22): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601232 | ATATATAT | A | intron_variant | MODIFIER | HG02300.hp1 HG02717.hp1 HG03831.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0044a0002c0002t0001g0111a0002c0002t0002g0110 | 3 | 344 | 0.0087 | -7 | c.187 others(24): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIC_chr19_42264252_42300796 | 42284616 | CGGCGACG | C | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0047 | 5 | 196 | 0.0255 | -7 | c.279 others(26): Show |
CIC | ENSG00000079432.9 | transcript | ENST00000681038.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CIDEA_chr18_12249361_12282595 | 12270688 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01192.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0128a0001c0001t0001g0240a0001c0001t0001g0303others(21): Show | 25 | 448 | 0.0558 | -7 | c.331 others(24): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CIDEA_chr18_12249361_12282595 | 12272170 | GGGTTGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0024others(174): Show | 193 | 448 | 0.4308 | -7 | c.331 others(24): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CIDEC_chr3_9861714_9885253 | 9875376 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 6 | 410 | 0.0146 | -7 | c.207 others(24): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174354505 | TATATATC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(99): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0019others(93): Show | 102 | 348 | 0.2931 | -7 | c.485 others(24): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CIRBP_chr19_1264332_1279810 | 1278612 | ACAGGGCC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(198): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(25): Show | 201 | 280 | 0.7179 | -7 | c.*61 others(18): Show |
CIRBP | ENSG00000099622.14 | transcript | ENST00000587896.6 | protein_coding | 3803 | chr19 | TogoVar | ||||||
CISD1_chr10_58264162_58294586 | 58274135 | AAAAAAAG | A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01099.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0002g0017a0001c0001t0002g0018others(23): Show | 72 | 386 | 0.1865 | -7 | c.32- others(22): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CIT_chr12_119680791_119882320 | 119699339 | TAATACTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02559.hp2 others(14): Show |
a0001 | a0001c0005a0001c0007a0001c0028 | a0001c0005t0008a0001c0005t0010a0001c0005t0022others(2): Show | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(14): Show | 17 | 236 | 0.0720 | -7 | c.562 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 44/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119716378 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG02027.hp1 others(13): Show |
a0001a0005 | a0001c0001a0005c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(13): Show | 16 | 236 | 0.0678 | -7 | c.416 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119717414 | CTTTTCTT | C | intron_variant | MODIFIER | HG02165.hp2 NA18747.hp1 NA18939.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0001g0134others(4): Show | 7 | 236 | 0.0297 | -7 | c.416 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119737306 | CAAAAAAA | C | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG03098.hp2 others(3): Show |
a0001a0003 | a0001c0005a0001c0028a0003c0019 | a0001c0005t0010a0001c0028t0003a0003c0019t0003 | a0001c0005t0010g0216a0001c0005t0010g0217a0001c0005t0010g0221others(3): Show | 6 | 236 | 0.0254 | -7 | c.295 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119745374 | CAAAAAAA | C | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0010a0001c0005t0022a0001c0006t0012 | a0001c0005t0010g0042a0001c0005t0010g0216a0001c0005t0010g0217others(3): Show | 6 | 236 | 0.0254 | -7 | c.290 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 23/47 | chr12 | TogoVar | ||||||
CKAP2_chr13_52450478_52481627 | 52467706 | AAAAAAAG | A | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0020a0001c0001t0001g0036a0001c0001t0001g0149others(7): Show | 12 | 406 | 0.0296 | -7 | c.147 others(24): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CKMT1B_chr15_43589027_43604406 | 43596775 | GCTGTTGA | G | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01243.hp1 others(33): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0002t0001g0005others(7): Show | 36 | 348 | 0.1035 | -7 | c.876 others(22): Show |
CKMT1B | ENSG00000237289.10 | transcript | ENST00000441322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CLASP1_chr2_121332776_121654462 | 121478821 | AACCACAC | A | intron_variant | MODIFIER | HG02257.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0044 | a0001c0001t0023g0092a0001c0001t0044g0005 | 2 | 214 | 0.0094 | -7 | c.713 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478965 | ACACACAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG02027.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0027others(3): Show | a0001c0001t0002g0101a0001c0001t0002g0105a0001c0001t0002g0109others(11): Show | 14 | 214 | 0.0654 | -7 | c.713 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121555988 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0005a0001c0002t0056a0001c0002t0065others(1): Show | a0001c0002t0005g0145a0001c0002t0005g0147a0001c0002t0005g0159others(5): Show | 8 | 214 | 0.0374 | -7 | c.196 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33604320 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG02080.hp2 NA18979.hp1 others(6): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0003 | a0001c0001t0003g0035a0001c0001t0003g0036a0001c0001t0003g0037others(6): Show | 9 | 278 | 0.0324 | -7 | c.169 others(24): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 16/38 | chr3 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33713012 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02040.hp2 HG02622.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006a0001c0015 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0212a0001c0001t0003g0015a0001c0001t0003g0211others(11): Show | 14 | 278 | 0.0504 | -7 | c.195 others(24): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/38 | chr3 | TogoVar | ||||||
CLBA1_chr14_104980788_105000516 | 104987606 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01952.hp1 HG02027.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0021 | a0001c0001t0002g0010a0001c0001t0002g0022a0001c0001t0002g0070others(2): Show | 13 | 444 | 0.0293 | -7 | c.423 others(22): Show |
CLBA1 | ENSG00000140104.14 | transcript | ENST00000547315.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CLCA1_chr1_86463927_86505259 | 86498502 | AAGAAAAC | A | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG01167.hp2 others(18): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0210others(17): Show | 21 | 440 | 0.0477 | -7 | c.211 others(22): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCA1_chr1_86463927_86505259 | 86504645 | AAATATAG | A | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG01175.hp1 others(11): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0210a0001c0001t0001g0311others(11): Show | 14 | 440 | 0.0318 | -7 | c.*46 others(18): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 4387 | chr1 | TogoVar | ||||||
CLCF1_chr11_67359168_67378598 | 67368905 | TTTTTTCC | T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01261.hp1 others(13): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0006c0004t0001 | a0001c0001t0001g0005a0006c0004t0001g0079 | 16 | 308 | 0.0520 | -7 | c.17- others(22): Show |
CLCF1 | ENSG00000175505.11 | transcript | ENST00000312438.8 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
CLCN1_chr7_143311111_143357083 | 143347620 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG01884.hp2 others(11): Show |
a0002a0004 | a0002c0002a0002c0005a0002c0033others(1): Show | a0002c0002t0001a0002c0005t0001a0002c0033t0001others(1): Show | a0002c0002t0001g0085a0002c0002t0001g0116a0002c0002t0001g0211others(9): Show | 14 | 414 | 0.0338 | -7 | c.240 others(24): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169663316 | TGTTGTTG | T | intron_variant | MODIFIER | HG01346.hp1 HG01516.hp2 HG01517.hp1 others(23): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0039a0001c0003t0040others(1): Show | a0001c0003t0003g0001a0001c0003t0003g0003a0001c0003t0003g0013others(21): Show | 26 | 288 | 0.0903 | -7 | c.161 others(26): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
CLCN3_chr4_169615578_169728673 | 169701044 | CTGTAGCA | C | intron_variant | MODIFIER | HG01346.hp1 HG01516.hp2 HG01517.hp1 others(20): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0039a0001c0003t0040others(1): Show | a0001c0003t0003g0001a0001c0003t0003g0003a0001c0003t0003g0016others(18): Show | 23 | 288 | 0.0799 | -7 | c.156 others(26): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169712021 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00733.hp2 others(31): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0007a0001c0001t0010a0001c0001t0013others(11): Show | a0001c0001t0007g0103a0001c0001t0007g0212a0001c0001t0007g0213others(31): Show | 34 | 288 | 0.1181 | -7 | c.215 others(26): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10153127 | ATATATGT | A | upstream_gene_variant | MODIFIER | NA19080.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0022 | 2 | 264 | 0.0076 | -7 | c.-42 others(18): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 3847 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10180767 | CAAAAAAA | C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 264 | 0.0038 | -7 | c.-11 others(24): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10202638 | CAAAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0144a0001c0001t0002g0094a0001c0001t0002g0096others(3): Show | 6 | 264 | 0.0227 | -7 | c.556 others(24): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10204613 | CTTTTTTT | C | intron_variant | MODIFIER | HG02647.hp1 HG03516.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0079a0001c0002t0004g0046a0001c0002t0004g0048 | 3 | 264 | 0.0114 | -7 | c.556 others(24): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10205484 | AAAAAAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02293.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0004g0148a0001c0001t0006g0062a0001c0001t0008g0055others(2): Show | 5 | 264 | 0.0189 | -7 | c.556 others(22): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar |