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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLSTN2_chr3_139930185_140582397 | 140135105 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0006 | a0006c0024 | a0006c0024t0007 | a0006c0024t0007g0060 | 1 | 103 | 0.0097 | 18 | c.110 others(37): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140163419 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0006 | 1 | 48 | 0.0208 | 18 | c.110 others(37): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140211398 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02135.hp1 HG02135.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0036a0002c0002t0002others(3): Show | a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0076 others(5): Show |
8 | 10 | 0.8000 | 18 | c.232 others(37): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140240134 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0016 | 1 | 96 | 0.0104 | 18 | c.232 others(37): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140240174 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 57 | 0.0175 | 18 | c.232 others(37): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140377022 | C | CACAGAGA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 HG02257.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0021others(1): Show | a0001c0001t0005a0001c0001t0013a0002c0002t0002others(3): Show | a0001c0001t0005g0026 a0001c0001t0005g0089 a0001c0001t0013g0090 others(5): Show |
8 | 19 | 0.4211 | 18 | c.233 others(37): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140377022 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0016 | 1 | 12 | 0.0833 | 18 | c.233 others(37): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN3_chr12_7125371_7163945 | 7137795 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 HG01943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0076 |
4 | 47 | 0.0851 | 18 | c.121 others(35): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLTA_chr9_36185921_36217059 | 36216327 | A | ATGTGTGT others(11): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01361.hp1 HG01891.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(18): Show |
35 | 160 | 0.2188 | 18 | c.*45 others(29): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4269 | chr9 | TogoVar | |||||||
CLUH_chr17_2684387_2716764 | 2693141 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02976.hp2 HG03453.hp2 |
a0001 | a0001c0010a0001c0040 | a0001c0010t0003a0001c0010t0004a0001c0040t0003 | a0001c0010t0003g0257 a0001c0010t0004g0256 a0001c0040t0003g0259 |
3 | 6 | 0.5000 | 18 | c.323 others(35): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 19/25 | chr17 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627017 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02148.hp2 NA19010.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0016 a0001c0001t0001g0084 a0001c0001t0001g0213 others(2): Show |
5 | 345 | 0.0145 | 18 | c.424 others(31): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLU_chr8_27591917_27619700 | 27596310 | C | CCCCACAC others(11): Show |
downstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0114 | 1 | 456 | 0.0022 | 18 | c.*19 others(29): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 606 | chr8 | TogoVar | |||||||
CLVS1_chr8_61282970_61506629 | 61331804 | T | TCTTCTCC others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0171 | 1 | 175 | 0.0057 | 18 | c.455 others(37): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61357494 | C | CTTTTTTC others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 39 | 0.0256 | 18 | c.456 others(37): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61357494 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 39 | 0.0256 | 18 | c.456 others(37): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61392842 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0029g0174 |
3 | 176 | 0.0170 | 18 | c.630 others(37): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99601833 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01257.hp1 HG01433.hp2 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 others(10): Show |
13 | 72 | 0.1806 | 18 | c.-48 others(29): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 4856 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99716169 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 51 | 0.0196 | 18 | c.63- others(35): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99793033 | A | AAAACACA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 HG02970.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0007c0013t0001 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0092 others(3): Show |
6 | 94 | 0.0638 | 18 | c.249 others(37): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99794581 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG01433.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0019 others(14): Show |
17 | 51 | 0.3333 | 18 | c.249 others(37): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99797560 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0060 others(46): Show |
49 | 82 | 0.5976 | 18 | c.249 others(37): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99799377 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03098.hp1 HG03490.hp2 others(3): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0069 a0001c0001t0001g0099 a0001c0001t0001g0102 others(3): Show |
6 | 39 | 0.1538 | 18 | c.249 others(37): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99819465 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18972.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0133 a0002c0002t0001g0178 |
2 | 120 | 0.0167 | 18 | c.250 others(37): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22041945 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 393 | 0.0025 | 18 | c.-43 others(29): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4272 | chr12 | TogoVar | |||||||
CMAS_chr12_22041218_22070668 | 22060333 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 a0001c0001t0002g0161 |
2 | 37 | 0.0541 | 18 | c.694 others(33): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28258060 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01168.hp2 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0001g0274 a0001c0001t0001g0275 others(5): Show |
9 | 90 | 0.1000 | 18 | c.20- others(33): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28274206 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02293.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0184 a0001c0001t0001g0227 a0001c0001t0022g0226 |
3 | 258 | 0.0116 | 18 | c.109 others(37): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28300619 | C | CTCCCTCC others(11): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 a0001c0001t0001g0214 |
2 | 334 | 0.0060 | 18 | c.110 others(37): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28309821 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0308 | 1 | 126 | 0.0079 | 18 | c.110 others(35): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965245 | G | GTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0051 a0001c0001t0023g0019 |
2 | 74 | 0.0270 | 18 | c.*10 others(31): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1202 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TTATATAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0297 | 1 | 281 | 0.0036 | 18 | c.*45 others(29): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81483599 | T | TCCTCTCC others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(4): Show |
7 | 57 | 0.1228 | 18 | c.300 others(37): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81520569 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02074.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0077 a0001c0001t0001g0141 |
3 | 83 | 0.0361 | 18 | c.300 others(37): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81520569 | G | GGGGAGAG others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02109.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0163 others(4): Show |
7 | 87 | 0.0805 | 18 | c.300 others(37): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81577428 | T | TCACCATC others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01168.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0048 a0001c0001t0001g0118 a0001c0001t0001g0123 others(19): Show |
22 | 266 | 0.0827 | 18 | c.301 others(37): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81598968 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 150 | 0.0067 | 18 | c.301 others(35): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81640770 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02622.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0077 a0001c0001t0001g0166 a0001c0001t0001g0193 others(7): Show |
10 | 121 | 0.0826 | 18 | c.478 others(37): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81640770 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01257.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0058 a0001c0001t0001g0258 a0001c0001t0005g0096 |
3 | 114 | 0.0263 | 18 | c.478 others(37): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81654231 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02071.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0043 | a0001c0001t0001g0018 a0001c0001t0001g0173 a0001c0005t0043g0252 |
3 | 248 | 0.0121 | 18 | c.639 others(35): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81667799 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 119 | 0.0084 | 18 | c.826 others(35): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81667799 | A | AGAGAGTG others(11): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0085 | 1 | 119 | 0.0084 | 18 | c.826 others(35): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172685 | A | AGGGAGAG others(11): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0153 a0001c0001t0004g0178 others(4): Show |
7 | 313 | 0.0224 | 18 | c.*34 others(29): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2630 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172705 | C | CGGGAGAG others(11): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0268 |
2 | 314 | 0.0064 | 18 | c.*34 others(29): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2610 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206180734 | C | CATTATTA others(11): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 11 | 0.0909 | 18 | c.-28 others(35): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
CMPK2_chr2_6843316_6870907 | 6855314 | T | TCTGCCTC others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0195 | 1 | 390 | 0.0026 | 18 | c.993 others(35): Show |
CMPK2 | ENSG00000134326.12 | transcript | ENST00000256722.10 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
CMSS1_chr3_99812862_100186732 | 99957693 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 32 | 0.0313 | 18 | c.64+ others(37): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99983389 | A | AATATGTA others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01978.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 a0001c0001t0002g0147 a0001c0001t0002g0149 others(1): Show |
4 | 144 | 0.0278 | 18 | c.65- others(37): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99984048 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02738.hp2 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0209 a0001c0001t0002g0053 a0001c0001t0002g0059 others(3): Show |
6 | 76 | 0.0789 | 18 | c.65- others(37): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99984052 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0005 others(3): Show |
6 | 65 | 0.0923 | 18 | c.65- others(37): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM2_chr16_66574463_66593275 | 66589828 | T | TAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 111 | 0.0090 | 18 | c.*17 others(29): Show |
CMTM2 | ENSG00000140932.10 | transcript | ENST00000268595.3 | protein_coding | 1554 | chr16 | TogoVar |