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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLOCK_chr4_55422903_55551909 | 55445582 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG02293.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0038others(1): Show | a0001c0001t0001g0097 a0001c0001t0001g0125 a0001c0001t0001g0129 others(3): Show |
6 | 338 | 0.0178 | 20 | c.154 others(37): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | |||||||
CLPB_chr11_72280495_72439531 | 72286223 | G | GTTTTTTT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0085a0001c0001t0090 | a0001c0001t0085g0026 a0001c0001t0090g0113 |
2 | 206 | 0.0097 | 20 | c.*71 others(31): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 17/17 | 7143 | chr11 | TogoVar | ||||||
CLPB_chr11_72280495_72439531 | 72371533 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0168 | 1 | 206 | 0.0049 | 20 | c.736 others(37): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 5/16 | chr11 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1342039 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 370 | 0.0027 | 20 | c.264 others(35): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CLRN1_chr3_150921567_150977727 | 150941138 | G | GTCTATCT others(13): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 408 | 0.0025 | 20 | c.433 others(35): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
CLSTN1_chr1_9723926_9828965 | 9776788 | C | CTCTATCT others(13): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18968.hp2 NA18995.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0064 a0003c0004t0002g0065 a0003c0004t0002g0066 others(1): Show |
4 | 270 | 0.0148 | 20 | c.92- others(35): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
CLSTN1_chr1_9723926_9828965 | 9778223 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0037 | 1 | 270 | 0.0037 | 20 | c.92- others(35): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 139953931 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01884.hp2 HG02145.hp2 others(2): Show |
a0001a0002a0005 | a0001c0003a0002c0002a0002c0005others(1): Show | a0001c0003t0007a0002c0002t0002a0002c0002t0004others(2): Show | a0001c0003t0007g0068 a0002c0002t0002g0029 a0002c0002t0004g0107 others(2): Show |
5 | 110 | 0.0455 | 20 | c.109 others(39): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 139955112 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00738.hp2 HG01261.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0029others(1): Show | a0001c0001t0001g0019 a0001c0001t0005g0035 a0001c0001t0029g0016 others(1): Show |
4 | 110 | 0.0364 | 20 | c.109 others(39): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140135117 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0021 | 1 | 110 | 0.0091 | 20 | c.110 others(39): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140135117 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0001 | 1 | 110 | 0.0091 | 20 | c.110 others(39): 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(13): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0006 | a0001c0006t0031 | a0001c0006t0031g0024 | 1 | 110 | 0.0091 | 20 | c.110 others(39): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140240174 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 110 | 0.0091 | 20 | c.232 others(39): 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(13): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 110 | 0.0091 | 20 | c.232 others(39): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140251584 | G | GTTCCTTT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG02135.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0019others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0048 a0001c0001t0002g0091 a0001c0001t0005g0035 others(9): Show |
12 | 110 | 0.1091 | 20 | c.232 others(39): 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(13): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0017 | 1 | 110 | 0.0091 | 20 | c.233 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 394 | 0.0025 | 20 | c.121 others(37): 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(13): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01074.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0021 others(36): Show |
56 | 400 | 0.1400 | 20 | c.*45 others(31): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4269 | chr9 | TogoVar | |||||||
CLTB_chr5_176387501_176421539 | 176390438 | G | GGTGCTGA others(13): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 406 | 0.0025 | 20 | c.*23 others(31): Show |
CLTB | ENSG00000175416.16 | transcript | ENST00000310418.9 | protein_coding | 2062 | chr5 | TogoVar | |||||||
CLU_chr8_27591917_27619700 | 27593372 | A | AGCTACGT others(13): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0130 | 1 | 458 | 0.0022 | 20 | c.*48 others(31): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3544 | chr8 | TogoVar | |||||||
CLU_chr8_27591917_27619700 | 27593372 | A | AGTTACGT others(13): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG02027.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0030 others(7): Show |
13 | 458 | 0.0284 | 20 | c.*48 others(31): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3544 | chr8 | TogoVar | |||||||
CLU_chr8_27591917_27619700 | 27593398 | G | GTTACGTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0217 |
2 | 458 | 0.0044 | 20 | c.*48 others(31): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3518 | chr8 | TogoVar | |||||||
CLVS1_chr8_61282970_61506629 | 61357494 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18960.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0061 others(2): Show |
5 | 184 | 0.0272 | 20 | c.456 others(39): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61486098 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 184 | 0.0054 | 20 | c.978 others(39): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123002586 | T | TAATAAAA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01243.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0023 others(12): Show |
16 | 336 | 0.0476 | 20 | c.389 others(37): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123040769 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG01109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0045others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0062 others(12): Show |
16 | 336 | 0.0476 | 20 | c.565 others(37): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123075380 | C | CCCCTTCC others(13): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0057 | a0001c0001t0016g0162 a0001c0001t0057g0164 |
2 | 336 | 0.0060 | 20 | c.*11 others(33): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2456 | chr6 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99601833 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02451.hp1 NA18998.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0205 others(1): Show |
4 | 218 | 0.0184 | 20 | c.-48 others(31): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 4856 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99676186 | G | GTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02080.hp1 HG03453.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0089 others(2): Show |
5 | 218 | 0.0229 | 20 | c.62+ others(37): 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(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0060 |
2 | 218 | 0.0092 | 20 | c.249 others(39): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99797556 | C | CTCTGTGT others(13): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 218 | 0.0046 | 20 | c.249 others(39): 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(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG01243.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0027 others(17): Show |
20 | 218 | 0.0917 | 20 | c.249 others(39): 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(13): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02572.hp1 HG02717.hp1 others(2): Show |
a0001a0009a0010 | a0001c0001a0009c0007a0010c0011 | a0001c0001t0001a0009c0007t0001a0010c0011t0001 | a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0121 others(2): Show |
5 | 218 | 0.0229 | 20 | c.249 others(39): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99818446 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 218 | 0.0046 | 20 | c.250 others(39): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99833007 | C | CATACATA others(13): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 218 | 0.0046 | 20 | c.250 others(39): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99833030 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 218 | 0.0046 | 20 | c.250 others(39): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CMA1_chr14_24500353_24513265 | 24505174 | T | TTCTCTCT others(13): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0033 | 1 | 432 | 0.0023 | 20 | c.*34 others(29): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 178 | chr14 | TogoVar | |||||||
CMC1_chr3_28236619_28330142 | 28258060 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0257 | 1 | 338 | 0.0030 | 20 | c.20- others(35): 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(13): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 338 | 0.0030 | 20 | c.109 others(39): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28300649 | A | ATCCCTTT others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0089 others(4): Show |
7 | 338 | 0.0207 | 20 | c.110 others(39): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28300700 | T | TCCCTTTC others(13): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0006 a0001c0001t0005g0006 |
2 | 338 | 0.0059 | 20 | c.110 others(39): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965203 | A | AAAAATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0077 | a0002c0002t0077g0124 | 1 | 408 | 0.0025 | 20 | c.*10 others(33): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1244 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965245 | G | GTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0053 | a0001c0001t0014g0008 a0001c0001t0053g0271 |
2 | 408 | 0.0049 | 20 | c.*10 others(33): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1202 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TTATATAT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02717.hp1 HG03225.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0121a0002c0002t0059a0002c0002t0109 | a0001c0001t0121g0241 a0002c0002t0059g0308 a0002c0002t0109g0070 |
3 | 408 | 0.0074 | 20 | c.*45 others(31): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81500256 | G | GTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03540.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0173 others(1): Show |
4 | 268 | 0.0149 | 20 | c.300 others(39): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81500272 | G | GTCCTTCC others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01346.hp1 others(24): Show |
a0001a0008a0010 | a0001c0001a0008c0004a0010c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0018 a0001c0001t0001g0087 a0001c0001t0001g0105 others(24): Show |
27 | 268 | 0.1008 | 20 | c.300 others(39): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81500301 | T | TCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0166 a0001c0001t0001g0167 others(3): Show |
6 | 268 | 0.0224 | 20 | c.300 others(39): 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(13): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18945.hp1 NA18954.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0001a0001c0001t0007a0001c0001t0047others(1): Show | a0001c0001t0001g0056 a0001c0001t0007g0229 a0001c0001t0047g0075 others(1): Show |
4 | 268 | 0.0149 | 20 | c.300 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0046 | a0001c0001t0022g0181 a0001c0001t0046g0180 |
2 | 268 | 0.0075 | 20 | c.300 others(39): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81551022 | A | ATCACACG others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 268 | 0.0037 | 20 | c.301 others(39): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |