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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C7_chr5_40904497_40989643 | 40926360 | CCCACTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(234): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0022a0001c0025others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0064 others(229): Show |
237 | 378 | 0.6270 | -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 | a0001c0001t0003a0002c0002t0003a0003c0003t0003 | a0001c0001t0003g0283 a0002c0002t0003g0139 a0003c0003t0003g0212 others(1): Show |
4 | 378 | 0.0106 | -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(308): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 others(11): Show |
311 | 382 | 0.8141 | -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(209): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0005others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0216 others(209): Show |
212 | 323 | 0.6563 | -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 | a0003c0003t0001g0021 a0003c0003t0001g0135 |
3 | 402 | 0.0075 | -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 |
a0008a0020 | a0008c0007a0020c0015 | a0008c0007t0004a0020c0015t0007 | a0008c0007t0004g0049 a0008c0007t0004g0051 a0008c0007t0004g0052 others(2): Show |
5 | 364 | 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 | a0001c0001t0003g0097 a0001c0002t0001g0106 a0001c0002t0003g0104 others(1): Show |
4 | 10 | 0.4000 | -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 | a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0053 others(35): Show |
38 | 63 | 0.6032 | -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 | a0001c0001t0001g0026 a0001c0001t0001g0097 a0002c0002t0002g0129 others(1): Show |
6 | 226 | 0.0265 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(19): Show |
77 | 115 | 0.6696 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0051 others(25): Show |
32 | 392 | 0.0816 | -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 | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 others(9): Show |
16 | 448 | 0.0357 | -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 | a0001c0002t0002a0001c0002t0004a0001c0002t0009 | a0001c0002t0002g0009 a0001c0002t0002g0025 a0001c0002t0002g0038 others(5): Show |
14 | 26 | 0.5385 | -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 | a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0009g0013 |
3 | 248 | 0.0121 | -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(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0014 others(91): Show |
94 | 154 | 0.6104 | -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 | a0001c0001t0002g0031 a0001c0001t0002g0050 a0001c0001t0002g0112 others(1): Show |
4 | 154 | 0.0260 | -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 | a0001c0001t0001g0059 a0001c0001t0002g0031 a0001c0001t0003g0137 others(5): Show |
8 | 44 | 0.1818 | -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(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0117 a0001c0001t0001g0125 others(19): Show |
22 | 154 | 0.1429 | -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(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0110 others(21): Show |
24 | 48 | 0.5000 | -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 | a0001c0001t0002g0106 a0001c0002t0001g0138 |
2 | 134 | 0.0149 | -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 | a0001c0001t0001g0040 a0001c0001t0001g0091 a0001c0001t0001g0113 others(4): Show |
7 | 57 | 0.1228 | -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 | a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0069 others(11): Show |
14 | 210 | 0.0667 | -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(19): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0008 | a0001c0001t0001a0002c0005t0001a0004c0008t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0070 others(19): Show |
22 | 141 | 0.1560 | -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 | a0001c0001t0003g0024 a0001c0002t0001g0223 a0001c0002t0002g0093 others(6): Show |
9 | 193 | 0.0466 | -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(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0050 a0001c0001t0001g0154 a0001c0001t0001g0155 others(35): Show |
38 | 322 | 0.1180 | -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 | a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0002t0001g0098 others(4): Show |
7 | 56 | 0.1250 | -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 | a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0004g0280 |
3 | 153 | 0.0196 | -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(144): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0026 a0001c0001t0002g0306 a0001c0001t0003g0180 others(144): Show |
147 | 340 | 0.4324 | -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 | a0001c0001t0001g0013 a0001c0001t0001g0169 a0001c0001t0001g0310 others(54): Show |
62 | 174 | 0.3563 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show |
10 | 266 | 0.0376 | -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(56): Show |
a0002a0006 | a0002c0002a0002c0005a0006c0013 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(13): Show | a0002c0002t0001g0082 a0002c0002t0001g0088 a0002c0002t0001g0108 others(56): Show |
59 | 276 | 0.2138 | -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 | a0001c0001t0016g0159 a0001c0001t0018g0207 a0001c0002t0001g0183 others(61): Show |
120 | 398 | 0.3015 | -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 | a0001c0002t0001g0183 a0001c0002t0002g0006 a0001c0002t0002g0007 others(32): Show |
71 | 359 | 0.1978 | -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 |
a0001a0008 | a0001c0005a0008c0014 | a0001c0005t0008a0008c0014t0028 | a0001c0005t0008g0017 a0001c0005t0008g0113 a0001c0005t0008g0115 others(2): Show |
7 | 374 | 0.0187 | -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 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(8): Show |
25 | 320 | 0.0781 | -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 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(30): Show |
64 | 406 | 0.1576 | -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(58): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0022 a0001c0001t0001g0055 a0001c0001t0001g0056 others(58): Show |
61 | 164 | 0.3720 | -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 | a0001c0001t0001g0105 a0001c0003t0001g0106 |
2 | 88 | 0.0227 | -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(74): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(74): Show |
77 | 162 | 0.4753 | -9 | c.198 others(28): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64675993 | TTAATAAT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01258.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0025 others(6): Show |
9 | 27 | 0.3333 | -9 | c.297 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13207858 | CCTGCTGC others(2): Show |
C | conservative_inframe_deletion | MODERATE | HG02055.hp2 HG02280.hp2 NA19043.hp1 |
a0017a0028 | a0017c0074a0017c0078a0028c0112 | a0017c0074t0005a0017c0078t0008a0028c0112t0005 | a0017c0074t0005g0162 a0017c0078t0008g0149 a0028c0112t0005g0205 |
3 | 61 | 0.0492 | -9 | c.696 others(18): Show |
p.Gln others(15): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6967/7521 | 2323/2506 | chr19 | TogoVar | |||
CACNA1A_chr19_13201442_13511479 | 13208174 | GGGAGGGG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01496.hp1 others(10): Show |
a0001a0003a0004others(6): Show | a0001c0031a0001c0072a0001c0096others(9): Show | a0001c0031t0003a0001c0072t0003a0001c0096t0010others(9): Show | a0001c0031t0003g0123 a0001c0031t0003g0215 a0001c0072t0003g0212 others(10): Show |
13 | 201 | 0.0647 | -9 | c.678 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 46/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13208180 | GGGAGGAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(43): Show |
a0002a0003a0006others(11): Show | a0002c0002a0002c0003a0002c0010others(27): Show | a0002c0002t0002a0002c0003t0002a0002c0010t0002others(28): Show | a0002c0002t0002g0011 a0002c0002t0002g0040 a0002c0002t0002g0094 others(43): Show |
46 | 210 | 0.2190 | -9 | c.678 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 46/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13213672 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG01109.hp1 others(9): Show |
a0001a0004a0006others(4): Show | a0001c0031a0001c0072a0001c0125others(7): Show | a0001c0031t0003a0001c0072t0003a0001c0125t0003others(7): Show | a0001c0031t0003g0123 a0001c0031t0003g0215 a0001c0072t0003g0212 others(9): Show |
12 | 24 | 0.5000 | -9 | c.594 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 40/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13268893 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01099.hp1 others(27): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0006others(23): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(25): Show | a0001c0001t0001g0014 a0001c0004t0001g0075 a0001c0006t0001g0151 others(27): Show |
30 | 72 | 0.4167 | -9 | c.399 others(28): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13276697 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02895.hp2 others(2): Show |
a0001a0003a0017 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0013others(2): Show | a0001c0001t0001g0154 a0001c0005t0001g0020 a0001c0006t0013g0136 others(2): Show |
5 | 83 | 0.0602 | -9 | c.388 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 23/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346655 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA19030.hp2 |
a0001a0044 | a0001c0106a0044c0052 | a0001c0106t0001a0044c0052t0002 | a0001c0106t0001g0121 a0044c0052t0002g0155 |
2 | 213 | 0.0094 | -9 | c.979 others(28): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13399394 | GAGAAGAA others(2): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02630.hp1 others(5): Show |
a0001a0010a0011others(2): Show | a0001c0005a0001c0006a0001c0034others(5): Show | a0001c0005t0021a0001c0006t0001a0001c0034t0001others(5): Show | a0001c0005t0021g0021 a0001c0006t0001g0151 a0001c0034t0001g0079 others(5): Show |
8 | 126 | 0.0635 | -9 | c.540 others(28): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497522 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01934.hp1 |
a0003a0026 | a0003c0015a0026c0041 | a0003c0015t0001a0026c0041t0001 | a0003c0015t0001g0018 a0026c0041t0001g0107 |
2 | 187 | 0.0107 | -9 | c.293 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138090701 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01069.hp2 others(5): Show |
a0002a0003 | a0002c0001a0002c0020a0002c0033others(1): Show | a0002c0001t0001a0002c0020t0002a0002c0033t0001others(1): Show | a0002c0001t0001g0165 a0002c0001t0001g0201 a0002c0001t0001g0208 others(5): Show |
8 | 81 | 0.0988 | -9 | c.509 others(28): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |