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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLUAP1_chr16_3496004_3544048 | 3529674 | ATATTATA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00558.hp1 others(69): Show |
a0001a0007 | a0001c0001a0001c0012a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 others(59): Show |
72 | 382 | 0.1885 | -10 | c.929 others(25): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529704 | TATATTAT others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0242 | 1 | 382 | 0.0026 | -10 | c.929 others(25): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2685622 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG02145.hp2 others(7): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0207 a0001c0003t0001g0261 others(7): Show |
10 | 420 | 0.0238 | -10 | c.*49 others(21): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 3764 | chr17 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2691949 | CCGCCCCG others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01884.hp1 others(20): Show |
a0001a0019 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(6): Show | a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0003t0001g0133 others(15): Show |
23 | 420 | 0.0548 | -10 | c.365 others(25): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2691957 | CCACGCCC others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00609.hp1 others(31): Show |
a0001a0002a0016 | a0001c0001a0001c0005a0001c0032others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0032t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0031 others(18): Show |
34 | 420 | 0.0810 | -10 | c.365 others(25): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2694420 | AGCAGGGA others(3): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 420 | 0.0024 | -10 | c.293 others(25): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 17/25 | chr17 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2694434 | GGGGACAC others(3): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 420 | 0.0024 | -10 | c.293 others(25): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 17/25 | chr17 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 625518 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02896.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0152 a0001c0001t0001g0237 a0001c0001t0001g0269 others(7): Show |
10 | 414 | 0.0242 | -10 | c.423 others(25): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 626968 | AAGGAAGG others(3): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0007 a0001c0001t0006g0121 |
2 | 414 | 0.0048 | -10 | c.424 others(25): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 626972 | AAGGAAGG others(3): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 414 | 0.0024 | -10 | c.424 others(25): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 626976 | AAGGAAGG others(3): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 414 | 0.0024 | -10 | c.424 others(25): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 630672 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01169.hp1 HG01515.hp2 others(20): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0051 others(19): Show |
23 | 414 | 0.0556 | -10 | c.857 others(27): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645804 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0282 | 1 | 414 | 0.0024 | -10 | c.139 others(27): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 646497 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02895.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0006a0003c0005 | a0001c0001t0002a0002c0006t0004a0003c0005t0001 | a0001c0001t0002g0035 a0002c0006t0004g0317 a0003c0005t0001g0048 others(1): Show |
4 | 414 | 0.0097 | -10 | c.139 others(29): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLU_chr8_27591917_27619700 | 27593372 | AGTTACGT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(118): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0026 others(67): Show |
121 | 458 | 0.2642 | -10 | c.*48 others(21): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3544 | chr8 | TogoVar | |||||||
CLU_chr8_27591917_27619700 | 27607339 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 458 | 0.0022 | -10 | c.247 others(25): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CLVS1_chr8_61282970_61506629 | 61347626 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0097 a0001c0001t0001g0108 others(11): Show |
14 | 184 | 0.0761 | -10 | c.456 others(29): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 122992129 | CACATAGA others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 336 | 0.0030 | -10 | c.-51 others(21): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 4105 | chr6 | TogoVar | |||||||
CLVS2_chr6_122991235_123077925 | 123057334 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0074 | a0001c0001t0004g0141 a0001c0001t0074g0113 |
2 | 336 | 0.0060 | -10 | c.896 others(27): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99608847 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(6): Show |
9 | 218 | 0.0413 | -10 | c.62+ others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99630065 | GCCTAGGT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(49): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 others(49): Show |
52 | 218 | 0.2385 | -10 | c.62+ others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99631331 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01975.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 |
2 | 218 | 0.0092 | -10 | c.62+ others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99633210 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02922.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0141 |
3 | 218 | 0.0138 | -10 | c.62+ others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99648939 | AACCCATC others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0217 |
2 | 218 | 0.0092 | -10 | c.62+ others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99660852 | TGTGTTGA others(3): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG02280.hp2 HG02559.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0078 others(9): Show |
12 | 218 | 0.0551 | -10 | c.62+ others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99711403 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 218 | 0.0046 | -10 | c.63- others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99716169 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp1 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0150 a0001c0001t0001g0174 others(1): Show |
4 | 218 | 0.0184 | -10 | c.63- others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99716773 | ATTTCTTT others(3): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 218 | 0.0046 | -10 | c.63- others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99754087 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0068 others(35): Show |
38 | 218 | 0.1743 | -10 | c.63- others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99768519 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0090 | 1 | 218 | 0.0046 | -10 | c.63- others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99771020 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0183 others(1): Show |
4 | 218 | 0.0184 | -10 | c.63- others(25): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99793033 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00673.hp1 others(22): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0012 | a0001c0001t0001a0002c0002t0001a0011c0012t0001 | a0001c0001t0001g0051 a0001c0001t0001g0093 a0001c0001t0001g0127 others(22): Show |
25 | 218 | 0.1147 | -10 | c.249 others(29): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99818446 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 218 | 0.0046 | -10 | c.250 others(29): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99819416 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01433.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0083 others(8): Show |
11 | 218 | 0.0505 | -10 | c.250 others(29): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99837791 | GAGCCTTT others(3): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02896.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0078 others(1): Show |
4 | 218 | 0.0184 | -10 | c.250 others(29): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99840771 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0057 |
2 | 218 | 0.0092 | -10 | c.250 others(29): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
CMA1_chr14_24500353_24513265 | 24505243 | CACACACA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00738.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
54 | 432 | 0.1250 | -10 | c.*26 others(19): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 109 | chr14 | TogoVar | |||||||
CMAS_chr12_22041218_22070668 | 22041945 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0133 a0001c0003t0001g0185 |
2 | 450 | 0.0044 | -10 | c.-43 others(21): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4272 | chr12 | TogoVar | |||||||
CMAS_chr12_22041218_22070668 | 22057230 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01243.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0002c0005t0001 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0180 others(20): Show |
33 | 450 | 0.0733 | -10 | c.560 others(27): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CMBL_chr5_10272595_10312902 | 10308390 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 350 | 0.0029 | -10 | c.-79 others(19): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 489 | chr5 | TogoVar | |||||||
CMC1_chr3_28236619_28330142 | 28300649 | ATCCCTTT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0277 a0001c0001t0001g0278 others(11): Show |
14 | 338 | 0.0414 | -10 | c.110 others(29): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28300700 | TCCCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0003g0002 a0001c0001t0003g0113 a0001c0001t0003g0114 others(13): Show |
18 | 338 | 0.0533 | -10 | c.110 others(29): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28309941 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA18975.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0245 a0001c0001t0003g0182 a0001c0001t0004g0287 others(1): Show |
4 | 338 | 0.0118 | -10 | c.110 others(27): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965192 | AAAAAAAA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0097 | a0002c0002t0097g0300 | 1 | 408 | 0.0025 | -10 | c.*10 others(23): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1255 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965243 | ATGTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 NA18974.hp1 NA19074.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0013a0002c0002t0095a0002c0002t0096 | a0002c0002t0013g0025 a0002c0002t0013g0091 a0002c0002t0095g0068 others(1): Show |
4 | 408 | 0.0098 | -10 | c.*10 others(23): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1204 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80971589 | TGAAATCA others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0118a0001c0001t0119 | a0001c0001t0040g0033 a0001c0001t0118g0170 a0001c0001t0119g0169 |
4 | 408 | 0.0098 | -10 | c.*44 others(21): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4494 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 81001841 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0132 | a0001c0001t0132g0272 | 1 | 408 | 0.0025 | -10 | c.-35 others(27): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CMC4_chrX_155056622_155076136 | 155057032 | GGCCTCAT others(3): Show |
G | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 292 | 0.0034 | -10 | c.*48 others(21): Show |
CMC4 | ENSG00000182712.16 | transcript | ENST00000369484.8 | protein_coding | 4589 | chrX | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81493350 | GCGTTACC others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(75): Show |
78 | 268 | 0.2910 | -10 | c.300 others(29): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81507089 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 268 | 0.0037 | -10 | c.300 others(29): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |