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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C6orf62_chr6_24699861_24724154 | 24711676 | TCAAAAAA | T | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG02129.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 a0001c0001t0006g0049 a0001c0001t0006g0169 others(4): Show |
20 | 412 | 0.0485 | -7 | c.429 others(24): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36931656 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(67): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0026a0001c0002t0003a0001c0002t0005others(17): Show | a0001c0001t0026g0197 a0001c0002t0003g0002 a0001c0002t0003g0008 others(48): Show |
70 | 157 | 0.4459 | -7 | c.*82 others(18): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 2693 | chr6 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36933610 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp2 others(103): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0010 others(59): Show |
106 | 288 | 0.3681 | -7 | c.*10 others(20): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 4647 | chr6 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40968561 | ATATATTT | A | intron_variant | MODIFIER | NA18979.hp1 NA19082.hp1 NA19084.hp1 |
a0003a0005a0008 | a0003c0003a0005c0005a0008c0008 | a0003c0003t0003a0005c0005t0003a0008c0008t0003 | a0003c0003t0003g0253 a0005c0005t0003g0084 a0008c0008t0003g0316 |
3 | 378 | 0.0079 | -7 | c.188 others(26): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1043328 | AGCAGTAT | A | intron_variant | MODIFIER | NA18961.hp2 NA18969.hp2 NA18984.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0257 a0001c0001t0002g0266 a0001c0001t0002g0267 others(1): Show |
4 | 324 | 0.0123 | -7 | c.130 others(26): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1069350 | TCCCTCTC | T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp1 others(57): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0003g0290 others(57): Show |
60 | 324 | 0.1852 | -7 | c.129 others(26): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1089707 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0005a0001c0001t0006a0001c0001t0017others(2): Show | a0001c0001t0005g0297 a0001c0001t0006g0081 a0001c0001t0006g0082 others(16): Show |
19 | 220 | 0.0864 | -7 | c.129 others(26): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1108816 | CGGCTGCT | C | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02559.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0002g0315 a0001c0001t0005g0308 a0001c0001t0005g0311 others(15): Show |
18 | 324 | 0.0556 | -7 | c.129 others(26): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1118799 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(38): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 others(38): Show |
41 | 149 | 0.2752 | -7 | c.129 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68367912 | GAAAAAAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 HG02896.hp1 others(4): Show |
a0001a0002a0003 | a0001c0005a0002c0007a0003c0006others(1): Show | a0001c0005t0001a0001c0005t0002a0002c0007t0001others(4): Show | a0001c0005t0001g0076 a0001c0005t0002g0075 a0002c0007t0001g0078 others(4): Show |
7 | 11 | 0.6364 | -7 | c.327 others(26): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68520617 | ATTTTTTT | A | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 HG02970.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(1): Show |
4 | 78 | 0.0513 | -7 | c.766 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68567577 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG02055.hp1 others(9): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0037 a0001c0001t0003g0097 a0001c0001t0004g0110 others(9): Show |
12 | 26 | 0.4615 | -7 | c.110 others(28): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf76_chr8_123214967_123246377 | 123244290 | GCCCTCCT | G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02451.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0078 others(7): Show |
14 | 228 | 0.0614 | -7 | c.-29 others(18): Show |
C8orf76 | ENSG00000189376.12 | transcript | ENST00000276704.6 | protein_coding | 2914 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531235 | AAGGGCAC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(118): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0011others(9): Show | a0001c0001t0002g0015 a0001c0002t0002g0001 a0001c0002t0002g0005 others(18): Show |
121 | 377 | 0.3210 | -7 | c.-23 others(18): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2125 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531294 | AAGGGCAC | A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01168.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(4): Show |
15 | 380 | 0.0395 | -7 | c.-23 others(18): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2184 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531353 | AAGGGCAC | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG01192.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(3): Show |
11 | 390 | 0.0282 | -7 | c.-24 others(18): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2243 | chr8 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531471 | AAGGGCAC | A | upstream_gene_variant | MODIFIER | HG02132.hp2 HG02818.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
4 | 395 | 0.0101 | -7 | c.-25 others(18): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2361 | chr8 | TogoVar | |||||||
C8orf90_chr8_141509671_141523729 | 141521876 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(80): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(19): Show |
83 | 121 | 0.6860 | -7 | c.*31 others(18): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 3148 | chr8 | TogoVar | |||||||
C9orf153_chr9_86215265_86264657 | 86240701 | CTTTTTCT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(125): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0025 others(115): Show |
128 | 382 | 0.3351 | -7 | c.-26 others(26): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
C9orf78_chr9_129822290_129840275 | 129826174 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01069.hp2 HG02630.hp2 HG03098.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 a0001c0002t0002g0082 |
7 | 19 | 0.3684 | -7 | c.*19 others(18): Show |
C9orf78 | ENSG00000136819.15 | transcript | ENST00000372447.7 | protein_coding | 1115 | chr9 | TogoVar | |||||||
C9orf85_chr9_71906639_71978457 | 71928186 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(164): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(160): Show |
167 | 171 | 0.9766 | -7 | c.102 others(26): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
C9orf85_chr9_71906639_71978457 | 71967629 | ATTCATTG | A | intron_variant | MODIFIER | HG00408.hp2 NA18991.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0234 |
3 | 248 | 0.0121 | -7 | c.210 others(24): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 2/3 | chr9 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51692426 | TTTTACCA | T | intron_variant | MODIFIER | HG01167.hp1 HG01361.hp2 HG02056.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0002g0014 others(3): Show |
6 | 154 | 0.0390 | -7 | c.466 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51891008 | AAAGATGG | A | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0017 a0001c0001t0004g0072 |
2 | 154 | 0.0130 | -7 | c.279 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA2_chr8_85459007_85486493 | 85464146 | GCCCCGAT | G | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 HG03710.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 others(1): Show |
4 | 334 | 0.0120 | -7 | c.34+ others(18): Show |
CA2 | ENSG00000104267.10 | transcript | ENST00000285379.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CA2_chr8_85459007_85486493 | 85468284 | AAGAAGGT | A | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0127 a0001c0001t0001g0128 others(1): Show |
6 | 334 | 0.0180 | -7 | c.232 others(24): Show |
CA2 | ENSG00000104267.10 | transcript | ENST00000285379.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87892553 | AATAAATT | A | intron_variant | MODIFIER | HG02683.hp1 HG02717.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0274 a0001c0002t0002g0231 a0001c0002t0002g0246 others(6): Show |
9 | 398 | 0.0226 | -7 | c.619 others(22): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87895551 | GAAAACAA | G | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02886.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0073 others(10): Show |
13 | 398 | 0.0327 | -7 | c.619 others(24): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87911099 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00639.hp2 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(8): Show | a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0040 others(77): Show |
80 | 288 | 0.2778 | -7 | c.341 others(24): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87928739 | CTGGATTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(83): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0067 others(82): Show |
86 | 397 | 0.2166 | -7 | c.143 others(24): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
CA5A_chr16_87883013_87941529 | 87937792 | TTTCTTTC | T | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02109.hp1 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 others(3): Show |
6 | 398 | 0.0151 | -7 | c.-13 others(18): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 1264 | chr16 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8949177 | CCTGGCCT | C | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02280.hp2 others(13): Show |
a0006a0007 | a0006c0010a0006c0012a0007c0014 | a0006c0010t0001a0006c0012t0001a0007c0014t0006others(1): Show | a0006c0010t0001g0031 a0006c0010t0001g0307 a0006c0010t0001g0312 others(11): Show |
16 | 450 | 0.0356 | -7 | c.80- others(18): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8973777 | TTTCTTTC | T | intron_variant | MODIFIER | HG00609.hp2 HG02165.hp1 HG02970.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(7): Show | a0001c0001t0001g0170 a0001c0001t0001g0286 a0001c0001t0001g0324 others(14): Show |
17 | 450 | 0.0378 | -7 | c.845 others(22): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8978636 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02451.hp1 others(23): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0001g0379 a0001c0001t0003g0007 a0001c0001t0003g0024 others(21): Show |
26 | 172 | 0.1512 | -7 | c.*39 others(18): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 3545 | chr1 | TogoVar | |||||||
CA7_chr16_66839414_66859147 | 66853134 | ATAAGTCT | A | intron_variant | MODIFIER | HG02818.hp2 HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 |
3 | 392 | 0.0077 | -7 | c.673 others(22): Show |
CA7 | ENSG00000168748.14 | transcript | ENST00000338437.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26847198 | ATTTTTTT | A | intron_variant | MODIFIER | HG00733.hp2 HG01981.hp1 HG02886.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0159 a0001c0001t0001g0165 others(5): Show |
9 | 25 | 0.3600 | -7 | c.740 others(24): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49329545 | ATATATAT | A | intron_variant | MODIFIER | HG00438.hp1 HG01192.hp2 HG01257.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0012a0001c0002t0002others(1): Show | a0001c0001t0001g0261 a0001c0001t0012g0264 a0001c0002t0002g0091 others(7): Show |
10 | 194 | 0.0515 | -7 | c.834 others(24): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230709101 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01517.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0051 a0001c0001t0001g0091 others(19): Show |
22 | 206 | 0.1068 | -7 | c.-41 others(18): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 3740 | chr2 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230813978 | CTTTTTTT | C | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0018others(2): Show | a0001c0001t0001g0026 a0001c0001t0009g0017 a0001c0001t0009g0018 others(4): Show |
7 | 44 | 0.1591 | -7 | c.628 others(20): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61680561 | TATTTGTA | T | intron_variant | MODIFIER | HG03239.hp2 HG03471.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0343 |
3 | 372 | 0.0081 | -7 | c.165 others(22): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CABIN1_chr22_24006304_24183628 | 24026580 | CTTTTTCT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02027.hp2 others(31): Show |
a0001a0006a0012 | a0001c0004a0001c0009a0001c0011others(5): Show | a0001c0004t0001a0001c0009t0001a0001c0011t0001others(5): Show | a0001c0004t0001g0160 a0001c0004t0001g0193 a0001c0004t0001g0194 others(31): Show |
34 | 266 | 0.1278 | -7 | c.-74 others(24): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24053057 | TTTTTTTC | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0002 | a0001c0001t0001g0077 a0001c0007t0002g0233 a0001c0007t0002g0234 others(3): Show |
6 | 266 | 0.0226 | -7 | c.807 others(24): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24062346 | ATTTTTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG02965.hp1 NA18949.hp2 others(2): Show |
a0001a0012 | a0001c0004a0001c0009a0001c0011others(1): Show | a0001c0004t0001a0001c0009t0001a0001c0011t0001others(1): Show | a0001c0004t0001g0194 a0001c0009t0001g0161 a0001c0009t0001g0203 others(2): Show |
5 | 119 | 0.0420 | -7 | c.169 others(24): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23191906 | TAAAAAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp2 others(31): Show |
a0001a0002a0006 | a0001c0001a0002c0005a0006c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(31): Show |
34 | 45 | 0.7556 | -7 | c.918 others(24): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48046973 | CCTTTTTT | C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02970.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0068 a0002c0003t0003g0069 a0002c0003t0003g0070 others(3): Show |
6 | 236 | 0.0254 | -7 | c.-30 others(18): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 2895 | chr19 | TogoVar | |||||||
CABYR_chr18_24134062_24166600 | 24134255 | CTGTTTTT | C | upstream_gene_variant | MODIFIER | NA18972.hp2 NA18974.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0182 |
3 | 404 | 0.0074 | -7 | c.-48 others(18): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 4806 | chr18 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64512393 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(61): Show |
64 | 83 | 0.7711 | -7 | c.199 others(26): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64623471 | AGCCTGTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(150): Show |
153 | 164 | 0.9329 | -7 | c.518 others(24): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64697649 | GTTTGTTT | G | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02896.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0159 a0001c0001t0002g0136 others(3): Show |
6 | 164 | 0.0366 | -7 | c.*60 others(18): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 4597 | chr1 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13206944 | GTTTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(42): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0004a0001c0005others(23): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(25): Show | a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0038 others(42): Show |
45 | 83 | 0.5422 | -7 | c.*36 others(16): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 362 | chr19 | TogoVar |