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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COMMD7_chr20_32697699_32748467 | 32739644 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG01358.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 others(25): Show |
31 | 285 | 0.1088 | 7 | c.84+ others(22): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
COMTD1_chr10_75228641_75240957 | 75232740 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01074.hp2 HG02015.hp2 HG02155.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0008 |
19 | 97 | 0.1959 | 7 | c.*13 others(18): Show |
COMTD1 | ENSG00000165644.11 | transcript | ENST00000372538.8 | protein_coding | 900 | chr10 | TogoVar | |||||||
COMTD1_chr10_75228641_75240957 | 75234384 | G | GGGCGGGA | intron_variant | MODIFIER | HG01069.hp1 HG02451.hp2 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 10 | 408 | 0.0245 | 7 | c.637 others(22): Show |
COMTD1 | ENSG00000165644.11 | transcript | ENST00000372538.8 | protein_coding | 6/6 | chr10 | TogoVar | |||||||
COMTD1_chr10_75228641_75240957 | 75237120 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00621.hp1 others(94): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(2): Show |
97 | 113 | 0.8584 | 7 | c.-11 others(18): Show |
COMTD1 | ENSG00000165644.11 | transcript | ENST00000372538.8 | protein_coding | 1164 | chr10 | TogoVar | |||||||
COMT_chr22_19936772_19974975 | 19940244 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00621.hp2 HG02074.hp2 HG02615.hp2 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0003t0002a0001c0005t0002others(5): Show | a0001c0002t0001g0229 a0001c0003t0002g0218 a0001c0005t0002g0216 others(7): Show |
10 | 65 | 0.1538 | 7 | c.-17 others(18): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1527 | chr22 | TogoVar | |||||||
COMT_chr22_19936772_19974975 | 19942408 | T | TGGAGGCG | intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0383 a0001c0003t0002g0384 a0001c0003t0002g0385 others(1): Show |
4 | 424 | 0.0094 | 7 | c.-92 others(22): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
COMT_chr22_19936772_19974975 | 19954218 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(78): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(19): Show | a0001c0002t0001g0127 a0001c0002t0001g0149 a0001c0002t0001g0295 others(71): Show |
81 | 146 | 0.5548 | 7 | c.-91 others(24): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 175976270 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG02976.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0173 others(3): Show |
6 | 33 | 0.1818 | 7 | c.213 others(28): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 175998063 | T | TAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 a0001c0002t0002g0017 a0001c0002t0002g0018 others(3): Show |
6 | 44 | 0.1364 | 7 | c.173 others(26): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 15/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176041346 | T | TTTTTTTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(285): Show |
288 | 298 | 0.9664 | 7 | c.161 others(26): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 14/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176173986 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00609.hp1 others(60): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0006a0006c0007t0001 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 others(60): Show |
63 | 168 | 0.3750 | 7 | c.565 others(24): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 3/19 | chr1 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130550411 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02615.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(14): Show |
17 | 31 | 0.5484 | 7 | c.177 others(24): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 17/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130557817 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(87): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 others(87): Show |
90 | 192 | 0.4688 | 7 | c.112 others(26): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 12/23 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130618100 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(69): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0212 a0001c0001t0001g0281 others(69): Show |
72 | 159 | 0.4528 | 7 | c.324 others(24): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
COPS7B_chr2_231781445_231814253 | 231790778 | C | CCGGACTG | intron_variant | MODIFIER | HG01952.hp1 HG01981.hp1 HG02300.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0001g0017 a0001c0001t0009g0017 a0001c0001t0009g0148 others(2): Show |
5 | 346 | 0.0145 | 7 | c.163 others(22): Show |
COPS7B | ENSG00000144524.18 | transcript | ENST00000350033.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COPS7B_chr2_231781445_231814253 | 231798254 | C | CTTTTTCT | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0021 | a0001c0001t0003g0011 a0001c0001t0006g0011 a0001c0001t0021g0064 others(2): Show |
7 | 261 | 0.0268 | 7 | c.531 others(22): Show |
COPS7B | ENSG00000144524.18 | transcript | ENST00000350033.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ2_chr4_83258824_83289798 | 83276070 | T | TATATATA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(74): Show |
a0001a0002a0004others(2): Show | a0001c0006a0001c0009a0002c0002others(6): Show | a0001c0006t0001a0001c0009t0001a0002c0002t0001others(7): Show | a0001c0006t0001g0107 a0001c0006t0001g0108 a0001c0009t0001g0106 others(43): Show |
77 | 334 | 0.2305 | 7 | c.421 others(24): Show |
COQ2 | ENSG00000173085.15 | transcript | ENST00000647002.2 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
COQ5_chr12_120498279_120534158 | 120526698 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG02165.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0008 | a0001c0001t0001a0002c0003t0001a0002c0008t0001 | a0001c0001t0001g0021 a0001c0001t0001g0156 a0002c0003t0001g0278 others(4): Show |
8 | 26 | 0.3077 | 7 | c.202 others(24): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
COQ5_chr12_120498279_120534158 | 120527988 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00741.hp2 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0002t0002g0001 others(32): Show |
49 | 65 | 0.7538 | 7 | c.202 others(22): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226976457 | C | CGGGTGCG | intron_variant | MODIFIER | HG02280.hp1 HG02922.hp2 HG03098.hp1 others(3): Show |
a0002 | a0002c0007a0002c0013 | a0002c0007t0003a0002c0013t0003 | a0002c0007t0003g0044 a0002c0007t0003g0311 a0002c0007t0003g0312 others(2): Show |
6 | 409 | 0.0147 | 7 | c.656 others(22): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CORIN_chr4_47589001_47843067 | 47632753 | A | AGATAGAT | intron_variant | MODIFIER | HG02109.hp1 HG03041.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0001 | a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0175 others(1): Show |
4 | 253 | 0.0158 | 7 | c.219 others(26): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | |||||||
CORO1C_chr12_108640109_108736518 | 108652852 | G | GGCACTGA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(265): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(260): Show |
268 | 324 | 0.8272 | 7 | c.856 others(22): Show |
CORO1C | ENSG00000110880.11 | transcript | ENST00000261401.8 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68575577 | G | GCCCCCCC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG00735.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0088 a0001c0001t0001g0089 others(36): Show |
39 | 64 | 0.6094 | 7 | c.-36 others(18): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3415 | chr15 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68576173 | A | AAAGAAAG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01071.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0027 others(38): Show |
41 | 228 | 0.1798 | 7 | c.-30 others(18): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2819 | chr15 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68592146 | C | CCAGACTG | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0014 | a0001c0001t0006g0191 a0001c0001t0013g0253 a0001c0001t0014g0254 |
3 | 254 | 0.0118 | 7 | c.15+ others(24): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68701478 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG00741.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0001g0115 a0001c0001t0001g0212 a0001c0001t0005g0007 others(11): Show |
14 | 46 | 0.3043 | 7 | c.333 others(24): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68721761 | T | TATTTATG | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00738.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(6): Show | a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 others(27): Show |
30 | 254 | 0.1181 | 7 | c.131 others(26): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
COX11_chr17_54955422_54973654 | 54958748 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0123 |
6 | 274 | 0.0219 | 7 | c.*39 others(18): Show |
COX11 | ENSG00000166260.13 | transcript | ENST00000299335.8 | protein_coding | 1673 | chr17 | TogoVar | |||||||
COX4I2_chr20_31632912_31650006 | 31639558 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01243.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(19): Show |
39 | 237 | 0.1646 | 7 | c.83- others(20): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COX5A_chr15_74914791_74943073 | 74933418 | A | ATATCTAT | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01070.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0247 others(8): Show |
13 | 391 | 0.0332 | 7 | c.101 others(24): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
COX5A_chr15_74914791_74943073 | 74939066 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(183): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show |
186 | 280 | 0.6643 | 7 | c.-10 others(18): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 994 | chr15 | TogoVar | |||||||
COX6A1_chr12_120433113_120445730 | 120437394 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01243.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(7): Show |
53 | 182 | 0.2912 | 7 | c.-73 others(16): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 718 | chr12 | TogoVar | |||||||
COX6B1_chr19_35643323_35663782 | 35647250 | G | GAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0025 a0001c0002t0001g0154 others(4): Show |
14 | 71 | 0.1972 | 7 | c.-11 others(18): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 1072 | chr19 | TogoVar | |||||||
COX7A1_chr19_36145922_36157447 | 36154856 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(182): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(17): Show |
185 | 460 | 0.4022 | 7 | c.-24 others(18): Show |
COX7A1 | ENSG00000161281.11 | transcript | ENST00000292907.8 | protein_coding | 2410 | chr19 | TogoVar | |||||||
COX7A2L_chr2_42344338_42366217 | 42355717 | C | CTTTTTTT | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0011 a0001c0001t0001g0100 a0001c0001t0001g0110 others(2): Show |
11 | 189 | 0.0582 | 7 | c.73- others(22): Show |
COX7A2L | ENSG00000115944.15 | transcript | ENST00000234301.3 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46905814 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00735.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0027 others(10): Show |
13 | 71 | 0.1831 | 7 | c.-10 others(26): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
CPA3_chr3_148860296_148902203 | 148899547 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00733.hp2 others(15): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0005c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(13): Show |
18 | 30 | 0.6000 | 7 | c.*28 others(18): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | |||||||
CPA4_chr7_130288161_130329180 | 130296679 | C | CTTTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG03688.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0266 a0001c0001t0003g0117 a0001c0001t0003g0123 others(3): Show |
6 | 7 | 0.8571 | 7 | c.69- others(22): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPA5_chr7_130339816_130373730 | 130357993 | T | TGTGTGTG | intron_variant | MODIFIER | HG02004.hp1 HG03704.hp1 HG04228.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0173 a0001c0001t0001g0198 a0001c0001t0001g0200 others(2): Show |
5 | 404 | 0.0124 | 7 | c.334 others(24): Show |
CPA5 | ENSG00000158525.16 | transcript | ENST00000474905.6 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
CPB1_chr3_148822811_148865187 | 148857063 | T | TTTTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(232): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0011others(7): Show | a0001c0001t0001a0001c0008t0001a0001c0011t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(208): Show |
235 | 452 | 0.5199 | 7 | c.982 others(22): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CPB2_chr13_46048186_46110033 | 46051996 | G | GAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0009others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(79): Show |
101 | 159 | 0.6352 | 7 | c.*16 others(18): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 1189 | chr13 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82574722 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01074.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0004a0001c0001t0027a0002c0002t0003others(6): Show | a0001c0001t0004g0100 a0001c0001t0004g0105 a0001c0001t0027g0102 others(14): Show |
17 | 83 | 0.2048 | 7 | c.272 others(24): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82610981 | A | AAAAAAAG | intron_variant | MODIFIER | HG00323.hp1 HG02273.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0010a0001c0001t0011a0001c0001t0023others(3): Show | a0001c0001t0010g0215 a0001c0001t0010g0350 a0001c0001t0011g0085 others(5): Show |
8 | 337 | 0.0237 | 7 | c.271 others(26): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92095601 | T | TATATATA | intron_variant | MODIFIER | HG02257.hp1 HG02965.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0015 | a0001c0001t0002g0269 a0001c0001t0011g0251 a0001c0001t0015g0224 |
3 | 186 | 0.0161 | 7 | c.157 others(26): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92106814 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(4): Show | a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0252 others(9): Show |
12 | 151 | 0.0795 | 7 | c.157 others(26): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92217237 | A | AAAAAAAT | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0024others(1): Show | a0001c0001t0002g0269 a0001c0001t0005g0246 a0001c0001t0005g0267 others(3): Show |
6 | 263 | 0.0228 | 7 | c.100 others(28): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92289718 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01261.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0003g0126 others(11): Show |
14 | 128 | 0.1094 | 7 | c.-12 others(24): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPEB4_chr5_173883349_173966980 | 173892274 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01081.hp2 others(31): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0001t0007a0001c0001t0055others(3): Show | a0001c0001t0004g0001 a0001c0001t0004g0037 a0001c0001t0004g0261 others(25): Show |
34 | 188 | 0.1809 | 7 | c.112 others(26): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121044648 | C | CTTTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG02723.hp2 HG02922.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(3): Show | a0001c0001t0001g0061 a0001c0001t0001g0096 a0001c0001t0003g0008 others(5): Show |
8 | 58 | 0.1379 | 7 | c.434 others(24): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121063381 | G | GAAAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02572.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0003t0001g0027 others(4): Show |
7 | 29 | 0.2414 | 7 | c.541 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |