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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLTC_chr17_59614895_59701956 | 59686332 | TATAAC | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(68): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0007others(1): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0018others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 others(54): Show |
71 | 260 | 0.2731 | -5 | c.482 others(22): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLTRN_chrX_15622318_15669805 | 15665679 | GTTTAA | G | upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 295 | 0.0034 | -5 | c.-90 others(14): Show |
CLTRN | ENSG00000147003.7 | transcript | ENST00000380342.4 | protein_coding | 875 | chrX | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3508785 | ATGCAG | A | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02559.hp2 others(8): Show |
a0004 | a0004c0005 | a0004c0005t0005a0004c0005t0033 | a0004c0005t0005g0013 a0004c0005t0005g0083 a0004c0005t0005g0091 others(7): Show |
11 | 382 | 0.0288 | -5 | c.399 others(20): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3524596 | CAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG02027.hp1 HG02027.hp2 others(10): Show |
a0001a0010 | a0001c0004a0010c0009 | a0001c0004t0008a0001c0004t0009a0001c0004t0011others(2): Show | a0001c0004t0008g0077 a0001c0004t0009g0004 a0001c0004t0009g0036 others(7): Show |
13 | 382 | 0.0340 | -5 | c.855 others(22): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529434 | ATATAT | A | intron_variant | MODIFIER | HG01943.hp1 HG03209.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0003g0155 |
3 | 382 | 0.0079 | -5 | c.929 others(22): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529451 | TTATTA | T | intron_variant | MODIFIER | HG02622.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0014a0006c0007t0015 | a0006c0007t0014g0010 a0006c0007t0015g0041 a0006c0007t0015g0042 |
4 | 382 | 0.0105 | -5 | c.929 others(22): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529592 | TTATTA | T | intron_variant | MODIFIER | HG02486.hp1 HG02602.hp1 HG02622.hp2 others(8): Show |
a0001a0005 | a0001c0004a0005c0006 | a0001c0004t0007a0005c0006t0007a0005c0006t0013 | a0001c0004t0007g0007 a0001c0004t0007g0011 a0005c0006t0007g0051 others(5): Show |
11 | 382 | 0.0288 | -5 | c.929 others(20): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529632 | ATTATT | A | intron_variant | MODIFIER | HG02486.hp1 HG02602.hp1 HG02622.hp2 others(8): Show |
a0001a0005 | a0001c0004a0005c0006 | a0001c0004t0007a0005c0006t0007a0005c0006t0013 | a0001c0004t0007g0007 a0001c0004t0007g0011 a0005c0006t0007g0051 others(5): Show |
11 | 382 | 0.0288 | -5 | c.929 others(20): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | chr16 | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3529649 | ATTATT | A | intron_variant | MODIFIER | HG02486.hp1 HG02602.hp1 HG02622.hp2 others(8): Show |
a0001a0005 | a0001c0004a0005c0006 | a0001c0004t0007a0005c0006t0007a0005c0006t0013 | a0001c0004t0007g0007 a0001c0004t0007g0011 a0005c0006t0007g0051 others(5): Show |
11 | 382 | 0.0288 | -5 | c.929 others(20): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | chr16 | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3529729 | ATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00741.hp1 others(16): Show |
a0001a0010 | a0001c0001a0001c0004a0010c0009 | a0001c0001t0008a0001c0004t0008a0001c0004t0009others(3): Show | a0001c0001t0008g0021 a0001c0001t0008g0146 a0001c0001t0008g0151 others(12): Show |
19 | 382 | 0.0497 | -5 | c.929 others(20): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529789 | ATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00741.hp1 others(17): Show |
a0001a0010 | a0001c0001a0001c0004a0010c0009 | a0001c0001t0008a0001c0004t0008a0001c0004t0009others(3): Show | a0001c0001t0008g0021 a0001c0001t0008g0146 a0001c0001t0008g0151 others(13): Show |
20 | 382 | 0.0524 | -5 | c.929 others(20): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2691925 | CCCCGT | C | intron_variant | MODIFIER | HG01070.hp1 HG01884.hp1 HG02055.hp1 others(6): Show |
a0001a0031 | a0001c0005a0001c0041a0031c0040 | a0001c0005t0002a0001c0005t0009a0001c0041t0002others(1): Show | a0001c0005t0002g0039 a0001c0005t0002g0314 a0001c0005t0002g0315 others(4): Show |
9 | 420 | 0.0214 | -5 | c.365 others(20): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2691954 | CCGCCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(66): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(16): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0036 others(53): Show |
69 | 420 | 0.1643 | -5 | c.365 others(20): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2691973 | CCCCCG | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(65): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(10): Show | a0001c0001t0001g0027 a0001c0001t0001g0142 a0001c0001t0001g0148 others(46): Show |
68 | 420 | 0.1619 | -5 | c.365 others(20): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2691982 | CCGCCA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(79): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(14): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0023 others(66): Show |
82 | 420 | 0.1952 | -5 | c.365 others(20): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 608498 | TTAAAA | T | intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0122 a0001c0001t0002g0006 a0001c0001t0002g0007 others(1): Show |
4 | 414 | 0.0097 | -5 | c.-14 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 625555 | ACACAC | A | intron_variant | MODIFIER | HG01255.hp2 HG04204.hp2 NA18984.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0376 others(1): Show |
4 | 414 | 0.0097 | -5 | c.423 others(20): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645811 | ATATAT | A | intron_variant | MODIFIER | HG00423.hp2 NA18994.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0273 a0001c0001t0001g0390 a0001c0001t0003g0322 |
3 | 414 | 0.0073 | -5 | c.139 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | chr18 | TogoVar | |||||||
CLU_chr8_27591917_27619700 | 27593372 | AGTTAC | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp2 others(81): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0020 others(47): Show |
84 | 458 | 0.1834 | -5 | c.*48 others(16): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3544 | chr8 | TogoVar | |||||||
CLU_chr8_27591917_27619700 | 27607339 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(48): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0005a0005c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0057 a0001c0001t0004g0004 a0001c0001t0004g0015 others(21): Show |
51 | 458 | 0.1114 | -5 | c.247 others(20): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CLVS2_chr6_122991235_123077925 | 123016021 | CTTTTT | C | intron_variant | MODIFIER | HG01099.hp1 HG01515.hp2 NA18947.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0018 | a0001c0001t0002g0253 a0001c0001t0007g0009 a0001c0001t0007g0249 others(7): Show |
14 | 336 | 0.0417 | -5 | c.564 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123040769 | AAAAAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02895.hp2 HG04184.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0072 | a0001c0001t0005g0268 a0001c0001t0016g0027 a0001c0001t0016g0244 others(1): Show |
5 | 336 | 0.0149 | -5 | c.565 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123048561 | CCTAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01884.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0016a0001c0001t0017others(20): Show | a0001c0001t0010g0019 a0001c0001t0010g0154 a0001c0001t0010g0157 others(37): Show |
42 | 336 | 0.1250 | -5 | c.565 others(18): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123052736 | TAGTGA | T | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01109.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0025a0001c0001t0026others(10): Show | a0001c0001t0012g0051 a0001c0001t0012g0056 a0001c0001t0012g0058 others(22): Show |
26 | 336 | 0.0774 | -5 | c.676 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 4/5 | chr6 | TogoVar | |||||||
CLVS2_chr6_122991235_123077925 | 123057334 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG02083.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0025others(9): Show | a0001c0001t0009g0022 a0001c0001t0009g0037 a0001c0001t0009g0181 others(20): Show |
25 | 336 | 0.0744 | -5 | c.896 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLXN_chr8_48718391_48740268 | 48736569 | TGACAA | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01361.hp1 HG01978.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0026 others(4): Show |
15 | 394 | 0.0381 | -5 | c.-14 others(16): Show |
CLXN | ENSG00000034239.11 | transcript | ENST00000262103.8 | protein_coding | 1302 | chr8 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99608847 | CTTTTT | C | intron_variant | MODIFIER | HG02602.hp2 HG03098.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 others(2): Show |
5 | 218 | 0.0229 | -5 | c.62+ others(20): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99632747 | AAAAAC | A | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01433.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0051 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | 218 | 0.0229 | -5 | c.62+ others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99661422 | TTTTTC | T | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01433.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0051 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show |
5 | 218 | 0.0229 | -5 | c.62+ others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99667433 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(51): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(51): Show |
54 | 218 | 0.2477 | -5 | c.62+ others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99696781 | CCAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(168): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0009others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0009t0001others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(168): Show |
171 | 218 | 0.7844 | -5 | c.63- others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99757237 | TAAATA | T | intron_variant | MODIFIER | HG00323.hp1 NA18947.hp1 NA19060.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0099 a0001c0001t0001g0185 a0001c0001t0001g0187 others(1): Show |
4 | 218 | 0.0184 | -5 | c.63- others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99784447 | CTCTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01081.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0046 a0001c0001t0001g0064 others(37): Show |
40 | 218 | 0.1835 | -5 | c.249 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99857392 | TATGGA | T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0083 |
2 | 218 | 0.0092 | -5 | c.250 others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99871990 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0045 others(39): Show |
42 | 218 | 0.1927 | -5 | c.927 others(20): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CMA1_chr14_24500353_24513265 | 24505207 | CATACA | C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01257.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(3): Show |
22 | 432 | 0.0509 | -5 | c.*30 others(14): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 145 | chr14 | TogoVar | |||||||
CMA1_chr14_24500353_24513265 | 24505250 | ACAAAC | A | downstream_gene_variant | MODIFIER | HG03927.hp1 NA18949.hp1 NA18969.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
6 | 432 | 0.0139 | -5 | c.*26 others(14): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 102 | chr14 | TogoVar | |||||||
CMBL_chr5_10272595_10312902 | 10282778 | TCAAAA | T | intron_variant | MODIFIER | HG01358.hp1 HG02280.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 a0001c0001t0004g0208 a0001c0001t0004g0213 others(3): Show |
6 | 350 | 0.0171 | -5 | c.467 others(20): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
CMBL_chr5_10272595_10312902 | 10308196 | GTTTAT | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00597.hp2 others(138): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(95): Show |
141 | 350 | 0.4029 | -5 | c.-59 others(14): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 295 | chr5 | TogoVar | |||||||
CMC1_chr3_28236619_28330142 | 28260680 | CTTAAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00609.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0314 a0001c0001t0003g0309 a0001c0001t0004g0012 others(38): Show |
42 | 338 | 0.1243 | -5 | c.20- others(20): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28269450 | AACTTT | A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0032 a0001c0001t0001g0084 a0001c0001t0001g0132 others(56): Show |
65 | 338 | 0.1923 | -5 | c.109 others(22): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965197 | AAAAAC | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01516.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0001c0001t0033a0001c0001t0152others(12): Show | a0001c0001t0016g0020 a0001c0001t0033g0173 a0001c0001t0152g0191 others(12): Show |
15 | 408 | 0.0368 | -5 | c.*10 others(18): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1250 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965199 | AAACAT | A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01258.hp1 HG01261.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0045 others(11): Show |
17 | 408 | 0.0417 | -5 | c.*10 others(18): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1248 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80967332 | TTTTTG | T | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02723.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0032a0002c0002t0064a0002c0002t0099 | a0002c0002t0032g0060 a0002c0002t0032g0061 a0002c0002t0064g0062 others(1): Show |
4 | 408 | 0.0098 | -5 | c.*87 others(16): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 8756 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80971503 | TAAGTA | T | 3_prime_UTR_variant | MODIFIER | HG02027.hp2 NA18950.hp1 NA18972.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0042 a0001c0001t0017g0193 a0001c0001t0017g0200 |
4 | 408 | 0.0098 | -5 | c.*45 others(16): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4585 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80993697 | CTAGAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(81): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(158): Show |
219 | 408 | 0.5368 | -5 | c.81+ others(20): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CMC4_chrX_155056622_155076136 | 155063038 | CAAGGT | C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01168.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(6): Show |
50 | 292 | 0.1712 | -5 | c.58+ others(18): Show |
CMC4 | ENSG00000182712.16 | transcript | ENST00000369484.8 | protein_coding | 2/2 | chrX | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81629134 | TAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01256.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0053 others(17): Show |
20 | 268 | 0.0746 | -5 | c.477 others(22): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81648784 | GAAAAA | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(52): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 others(52): Show |
55 | 268 | 0.2052 | -5 | c.478 others(22): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMKLR1_chr12_108283046_108344311 | 108306387 | ATCACC | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0065 others(86): Show |
96 | 400 | 0.2400 | -5 | c.-73 others(24): Show |
CMKLR1 | ENSG00000174600.14 | transcript | ENST00000550402.6 | protein_coding | 2/3 | chr12 | TogoVar |