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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf50_chr4_5954375_6023431 | 6003600 | GTGATGGT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(173): Show |
a0001a0002a0003others(44): Show | a0001c0001a0001c0084a0002c0002others(47): Show | a0001c0001t0000a0001c0084t0000a0002c0002t0000others(47): Show | a0001c0001t0000g0055a0001c0001t0000g0073a0001c0001t0000g0074others(171): Show | 176 | 346 | 0.5087 | -9 | c.963 others(26): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6003612 | ATGGTGAT others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02258.hp2 others(8): Show |
a0005a0015a0022others(3): Show | a0005c0005a0015c0015a0022c0022others(3): Show | a0005c0005t0000a0015c0015t0000a0022c0022t0000others(3): Show | a0005c0005t0000g0297a0005c0005t0000g0298a0005c0005t0000g0300others(8): Show | 11 | 346 | 0.0318 | -9 | c.963 others(26): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6003980 | AGTGATGA others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02622.hp2 others(1): Show |
a0010a0055a0086 | a0010c0010a0055c0060a0086c0099 | a0010c0010t0000a0055c0060t0000a0086c0099t0000 | a0010c0010t0000g0327a0010c0010t0000g0328a0055c0060t0000g0064others(1): Show | 4 | 346 | 0.0116 | -9 | c.963 others(26): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004163 | AGTGATGA others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02257.hp1 others(9): Show |
a0012a0017a0039others(5): Show | a0012c0017a0017c0020a0039c0037others(5): Show | a0012c0017t0000a0017c0020t0000a0039c0037t0000others(5): Show | a0012c0017t0000g0036a0017c0020t0000g0001a0017c0020t0000g0068others(8): Show | 12 | 346 | 0.0347 | -9 | c.963 others(26): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643784 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG02055.hp1 others(16): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0004a0005c0005others(1): Show | a0003c0003t0002a0004c0004t0002a0005c0005t0005others(3): Show | a0003c0003t0002g0028a0003c0003t0002g0067a0004c0004t0002g0085others(12): Show | 19 | 392 | 0.0485 | -9 | c.*37 others(26): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43496582 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(170): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(90): Show | 173 | 340 | 0.5088 | -9 | c.115 others(28): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43512760 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01975.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099a0001c0002t0002g0100a0001c0002t0002g0101others(3): Show | 6 | 340 | 0.0177 | -9 | c.-37 others(26): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
C5orf52_chr5_157666533_157685158 | 157676862 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp2 others(55): Show |
a0004 | a0004c0004a0004c0010 | a0004c0004t0001a0004c0010t0001 | a0004c0004t0001g0002a0004c0004t0001g0026a0004c0004t0001g0027others(6): Show | 58 | 418 | 0.1388 | -9 | c.321 others(26): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf52_chr5_157666533_157685158 | 157677661 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG01981.hp2 HG02145.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0013a0003c0003t0001g0062a0003c0003t0002g0013others(1): Show | 7 | 418 | 0.0168 | -9 | c.322 others(26): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C6orf118_chr6_165274664_165314605 | 165306535 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(13): Show |
a0002a0003 | a0002c0004a0002c0005a0003c0003 | a0002c0004t0002a0002c0005t0001a0003c0003t0001others(2): Show | a0002c0004t0002g0140a0002c0005t0001g0034a0002c0005t0001g0035others(10): Show | 16 | 360 | 0.0444 | -9 | c.25+ others(24): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42123433 | GAGAAGGA others(2): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG02895.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0014 | a0002c0002t0002g0151a0002c0002t0014g0202a0002c0002t0014g0234others(1): Show | 4 | 364 | 0.0110 | -9 | c.252 others(26): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40926360 | CCCACTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(235): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0022a0001c0025others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0046a0001c0001t0002g0003a0001c0001t0002g0010others(231): Show | 238 | 380 | 0.6263 | -9 | c.7-2 others(22): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968559 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03139.hp1 HG03704.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0008a0002c0002t0011a0003c0003t0001 | a0001c0001t0008g0286a0002c0002t0011g0147a0003c0003t0001g0215others(1): Show | 4 | 380 | 0.0105 | -9 | c.188 others(28): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf25_chr7_42904273_42917070 | 42906081 | CTTAACTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0017others(11): Show | 312 | 384 | 0.8125 | -9 | c.*35 others(20): Show |
C7orf25 | ENSG00000136197.14 | transcript | ENST00000350427.5 | protein_coding | 3191 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1137998 | ACGCACCG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(210): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0208a0001c0001t0002g0209a0001c0001t0002g0211others(210): Show | 213 | 326 | 0.6534 | -9 | c.-69 others(18): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/5 | 10614 | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051899 | CCTTCCTT others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 NA18906.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0150a0003c0003t0001g0151a0003c0003t0001g0153 | 3 | 404 | 0.0074 | -9 | c.606 others(24): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C8A_chr1_56849797_56923223 | 56903236 | GGTAATTT others(2): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG03669.hp2 HG03831.hp2 others(2): Show |
a0007a0019 | a0007c0007a0019c0015 | a0007c0007t0004a0019c0015t0007 | a0007c0007t0004g0052a0007c0007t0004g0054a0007c0007t0004g0055others(2): Show | 5 | 366 | 0.0137 | -9 | c.109 others(28): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 7/10 | chr1 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331783 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02970.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0003 | a0001c0001t0003g0090a0001c0002t0001g0093a0001c0002t0003g0091others(1): Show | 4 | 128 | 0.0313 | -9 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68792571 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01109.hp1 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0030a0001c0001t0001g0040others(35): Show | 38 | 128 | 0.2969 | -9 | c.154 others(28): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf89_chr8_73236331_73264530 | 73256130 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG03579.hp1 NA18944.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0026a0001c0001t0001g0097a0002c0002t0002g0129others(1): Show | 6 | 344 | 0.0174 | -9 | c.281 others(24): Show |
C8orf89 | ENSG00000274443.5 | transcript | ENST00000624510.4 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141521876 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(19): Show | 77 | 450 | 0.1711 | -9 | c.*31 others(20): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 3148 | chr8 | TogoVar | ||||||
C9_chr5_39279140_39369495 | 39353754 | AAGAGTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0001g0051others(25): Show | 32 | 394 | 0.0812 | -9 | c.77+ others(26): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
C9orf57_chr9_72046376_72065613 | 72060041 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0267a0001c0001t0001g0268a0001c0001t0001g0269others(9): Show | 16 | 450 | 0.0356 | -9 | c.-54 others(24): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
C9orf78_chr9_129822290_129840275 | 129826174 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01952.hp2 HG02559.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0011 | a0001c0002t0002g0009a0001c0002t0002g0043a0001c0002t0002g0045others(6): Show | 14 | 386 | 0.0363 | -9 | c.*19 others(20): Show |
C9orf78 | ENSG00000136819.15 | transcript | ENST00000372447.7 | protein_coding | 1115 | chr9 | TogoVar | ||||||
C9orf85_chr9_71906639_71978457 | 71934303 | TCAAAACA others(2): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG06807.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0015a0001c0001t0005g0016a0001c0001t0009g0014 | 3 | 250 | 0.0120 | -9 | c.103 others(28): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CA10_chr17_51625320_52163714 | 51641157 | TCTCTCTC others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0008others(92): Show | 95 | 156 | 0.6090 | -9 | c.635 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 6/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51657301 | TGCATGAA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0014a0001c0001t0002g0065a0001c0001t0002g0084others(1): Show | 4 | 156 | 0.0256 | -9 | c.466 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51831667 | AAGCAGCA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01884.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009a0001c0001t0002g0065a0001c0001t0003g0138others(5): Show | 8 | 156 | 0.0513 | -9 | c.280 others(28): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51874951 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0059others(20): Show | 23 | 156 | 0.1474 | -9 | c.279 others(28): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52108699 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01106.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0042a0001c0001t0001g0132a0001c0001t0001g0137others(22): Show | 25 | 156 | 0.1603 | -9 | c.62- others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52160797 | TCTTTCTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0134a0001c0002t0001g0139 | 2 | 156 | 0.0128 | -9 | c.-30 others(20): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2084 | chr17 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63334242 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG03579.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0092a0001c0001t0001g0114others(4): Show | 7 | 356 | 0.0197 | -9 | c.874 others(26): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 8/10 | chr15 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87892510 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01346.hp2 HG01358.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0027a0001c0001t0001g0044a0001c0001t0001g0068others(11): Show | 14 | 400 | 0.0350 | -9 | c.619 others(24): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87899919 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(20): Show |
a0001a0002a0005 | a0001c0001a0002c0005a0005c0008 | a0001c0001t0001a0002c0005t0001a0005c0008t0001 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0069others(20): Show | 23 | 400 | 0.0575 | -9 | c.618 others(26): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49329545 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG02056.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0003g0024a0001c0002t0001g0223a0001c0002t0002g0080others(6): Show | 9 | 324 | 0.0278 | -9 | c.834 others(26): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49343594 | GGGGAGAG others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0050a0001c0001t0001g0154a0001c0001t0001g0155others(36): Show | 39 | 324 | 0.1204 | -9 | c.624 others(24): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 8/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49442787 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02132.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0289a0001c0001t0002g0292a0001c0002t0001g0098others(4): Show | 7 | 324 | 0.0216 | -9 | c.-24 others(28): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230761888 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01346.hp2 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0275a0001c0001t0001g0276a0001c0001t0004g0280 | 3 | 342 | 0.0088 | -9 | c.114 others(26): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230777140 | AATGATGT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00597.hp1 others(145): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0026a0001c0001t0002g0306a0001c0001t0003g0180others(145): Show | 148 | 342 | 0.4328 | -9 | c.115 others(28): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61720917 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(59): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0172a0001c0001t0001g0312others(57): Show | 62 | 374 | 0.1658 | -9 | c.552 others(28): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24135353 | GCACTCCA others(2): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp1 HG02965.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(7): Show | 10 | 268 | 0.0373 | -9 | c.474 others(26): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23136050 | GGGCGCCG others(2): Show |
G | conservative_inframe_deletion | MODERATE | HG00438.hp1 HG00597.hp2 HG00673.hp1 others(57): Show |
a0002a0006 | a0002c0002a0002c0005a0006c0013 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(15): Show | a0002c0002t0001g0083a0002c0002t0001g0089a0002c0002t0001g0113others(57): Show | 60 | 278 | 0.2158 | -9 | c.295 others(16): Show |
p.Gly others(12): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/10 | 573/5283 | 295/1902 | 99/633 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
CABLES2_chr20_62383634_62412285 | 62397943 | GGTGACGG others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp1 others(117): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0016a0001c0001t0018a0001c0002t0001others(19): Show | a0001c0001t0016g0166a0001c0001t0018g0215a0001c0002t0001g0188others(62): Show | 120 | 400 | 0.3000 | -9 | c.363 others(26): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62397986 | GTGGTGGT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00733.hp1 others(68): Show |
a0001a0003a0005others(3): Show | a0001c0002a0003c0006a0003c0021others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(10): Show | a0001c0002t0001g0188a0001c0002t0002g0006a0001c0002t0002g0010others(33): Show | 71 | 400 | 0.1775 | -9 | c.363 others(26): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48028480 | TTTTCTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG03139.hp1 others(4): Show |
a0001a0009 | a0001c0005a0009c0014 | a0001c0005t0029a0001c0005t0030a0001c0005t0059others(2): Show | a0001c0005t0029g0182a0001c0005t0029g0186a0001c0005t0030g0184others(4): Show | 7 | 376 | 0.0186 | -9 | c.*20 others(20): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 902 | chr19 | TogoVar | ||||||
CABYR_chr18_24134062_24166600 | 24134257 | GTTTTTTG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(22): Show |
a0001 | a0001c0002a0001c0003a0001c0017others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0017t0001others(1): Show | a0001c0002t0001g0001a0001c0003t0001g0003a0001c0003t0001g0007others(8): Show | 25 | 408 | 0.0613 | -9 | c.-48 others(20): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 4804 | chr18 | TogoVar | ||||||
CABYR_chr18_24134062_24166600 | 24150774 | TTGTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(61): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0001c0007others(6): Show | a0001c0003t0001a0001c0005t0001a0001c0007t0001others(6): Show | a0001c0003t0001g0003a0001c0003t0001g0007a0001c0003t0001g0010others(30): Show | 64 | 408 | 0.1569 | -9 | c.200 others(26): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64476104 | AAGCAGCA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(59): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0022a0001c0001t0001g0055a0001c0001t0001g0056others(59): Show | 62 | 166 | 0.3735 | -9 | c.198 others(26): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64477584 | GATTATTA others(2): Show |
G | intron_variant | MODIFIER | HG03654.hp1 NA18955.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0105a0001c0003t0001g0106 | 2 | 166 | 0.0121 | -9 | c.198 others(26): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64500733 | AAAGAGAG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(75): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0022others(75): Show | 78 | 166 | 0.4699 | -9 | c.198 others(28): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |