regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 55440978 | AAACAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG03942.hp1 |
a0003 | a0003c0007 | a0003c0007t0040 | a0003c0007t0040g0179a0003c0007t0040g0180 | 2 | 338 | 0.0059 | -10 | c.210 others(29): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 21/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55448593 | CACGCGCG others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0053 | a0001c0001t0011g0317a0001c0001t0011g0320a0001c0001t0011g0321others(1): Show | 4 | 338 | 0.0118 | -10 | c.153 others(27): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55448597 | CGCGCGTG others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG01256.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0001g0094a0001c0001t0001g0096a0001c0001t0001g0097others(15): Show | 18 | 338 | 0.0533 | -10 | c.153 others(27): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55448599 | CGCGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02602.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0013 | a0001c0001t0001a0001c0001t0014a0001c0001t0021others(4): Show | a0001c0001t0001g0153a0001c0001t0001g0162a0001c0001t0014g0091others(5): Show | 8 | 338 | 0.0237 | -10 | c.153 others(27): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55448601 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01243.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0008 | a0001c0001t0001a0002c0003t0005a0002c0003t0020others(6): Show | a0001c0001t0001g0129a0001c0001t0001g0144a0001c0001t0001g0170others(20): Show | 23 | 338 | 0.0681 | -10 | c.153 others(27): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55503978 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp1 NA19240.hp2 |
a0002 | a0002c0003 | a0002c0003t0028 | a0002c0003t0028g0292a0002c0003t0028g0293a0002c0003t0028g0294 | 3 | 338 | 0.0089 | -10 | c.-13 others(29): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 2/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55510629 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0296a0001c0002t0027g0312a0001c0002t0027g0313 | 3 | 338 | 0.0089 | -10 | c.-28 others(27): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 1/22 | chr4 | TogoVar | ||||||
CLPB_chr11_72280495_72439531 | 72297636 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02135.hp1 HG02451.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0026a0001c0001t0029a0001c0001t0057others(3): Show | a0001c0001t0026g0037a0001c0001t0029g0054a0001c0001t0057g0077others(3): Show | 6 | 206 | 0.0291 | -10 | c.142 others(29): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
CLPB_chr11_72280495_72439531 | 72371533 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02132.hp1 HG02280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0025others(8): Show | a0001c0001t0007g0033a0001c0001t0007g0034a0001c0001t0007g0035others(10): Show | 13 | 206 | 0.0631 | -10 | c.736 others(27): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 5/16 | chr11 | TogoVar | ||||||
CLPB_chr11_72280495_72439531 | 72416735 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03130.hp2 NA18946.hp1 NA18952.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0012a0001c0001t0013a0001c0001t0072others(5): Show | a0001c0001t0012g0186a0001c0001t0012g0190a0001c0001t0013g0182others(8): Show | 12 | 206 | 0.0583 | -10 | c.455 others(29): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 2/16 | chr11 | TogoVar | ||||||
CLPB_chr11_72280495_72439531 | 72422223 | GCCACTGC others(3): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp1 HG01934.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0015a0001c0009t0071 | a0001c0001t0015g0168a0001c0001t0015g0169a0001c0001t0015g0170others(1): Show | 4 | 206 | 0.0194 | -10 | c.455 others(27): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 2/16 | chr11 | TogoVar | ||||||
CLPSL2_chr6_35771598_35784552 | 35772741 | TATATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0015 | 1 | 460 | 0.0022 | -10 | c.-38 others(21): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 3856 | chr6 | TogoVar | ||||||
CLPSL2_chr6_35771598_35784552 | 35775015 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 3 | 460 | 0.0065 | -10 | c.-16 others(21): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 1582 | chr6 | TogoVar | ||||||
CLPS_chr6_35789982_35802323 | 35794660 | AGTGTGTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0002g0050 | 2 | 418 | 0.0048 | -10 | c.*47 others(19): Show |
CLPS | ENSG00000137392.10 | transcript | ENST00000259938.7 | protein_coding | 321 | chr6 | TogoVar | ||||||
CLPS_chr6_35789982_35802323 | 35794685 | GTGTGTGT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01884.hp2 others(13): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0004c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0002g0003others(2): Show | 16 | 418 | 0.0383 | -10 | c.*45 others(19): Show |
CLPS | ENSG00000137392.10 | transcript | ENST00000259938.7 | protein_coding | 296 | chr6 | TogoVar | ||||||
CLPS_chr6_35789982_35802323 | 35797482 | CGTGTGTG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0041 | 2 | 418 | 0.0048 | -10 | c.-20 others(19): Show |
CLPS | ENSG00000137392.10 | transcript | ENST00000259938.7 | protein_coding | 160 | chr6 | TogoVar | ||||||
CLRN1_chr3_150921567_150977727 | 150935128 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(135): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0025others(130): Show | 138 | 408 | 0.3382 | -10 | c.433 others(27): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
CLRN1_chr3_150921567_150977727 | 150957238 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01496.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0313a0001c0002t0007g0314 | 2 | 408 | 0.0049 | -10 | c.253 others(29): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
CLRN2_chr4_17510165_17532104 | 17524204 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0022a0001c0001t0001g0026others(5): Show | 40 | 442 | 0.0905 | -10 | c.433 others(27): Show |
CLRN2 | ENSG00000249581.2 | transcript | ENST00000511148.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLSPN_chr1_35727112_35774978 | 35728921 | AACACACA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01169.hp1 HG01175.hp2 HG02040.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0008 | a0002c0002t0002g0001a0002c0002t0002g0020a0002c0002t0002g0134others(7): Show | 10 | 296 | 0.0338 | -10 | c.*75 others(21): Show |
CLSPN | ENSG00000092853.14 | transcript | ENST00000318121.8 | protein_coding | 3190 | chr1 | TogoVar | ||||||
CLSPN_chr1_35727112_35774978 | 35748820 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0067 | 1 | 296 | 0.0034 | -10 | c.227 others(27): Show |
CLSPN | ENSG00000092853.14 | transcript | ENST00000318121.8 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
CLSPN_chr1_35727112_35774978 | 35770420 | AATATATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0013 | a0013c0014 | a0013c0014t0023 | a0013c0014t0023g0233 | 1 | 296 | 0.0034 | -10 | c.-56 others(19): Show |
CLSPN | ENSG00000092853.14 | transcript | ENST00000318121.8 | protein_coding | 443 | chr1 | TogoVar | ||||||
CLSTN1_chr1_9723926_9828965 | 9769048 | GGAGGGAG others(3): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01981.hp2 NA18940.hp2 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0002g0065others(5): Show | 8 | 270 | 0.0296 | -10 | c.214 others(27): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
CLSTN1_chr1_9723926_9828965 | 9778223 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0262a0001c0003t0004g0110 | 2 | 270 | 0.0074 | -10 | c.92- others(25): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 139955112 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0068 | 1 | 110 | 0.0091 | -10 | c.109 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 139978648 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0014a0001c0003t0003others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0069a0001c0001t0014g0001others(12): Show | 15 | 110 | 0.1364 | -10 | c.109 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140236855 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 HG03139.hp1 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0041a0004c0013t0008 | a0001c0001t0001g0048a0001c0001t0041g0047a0004c0013t0008g0099 | 3 | 110 | 0.0273 | -10 | c.232 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140240142 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03041.hp2 HG03688.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0001c0018a0002c0010others(1): Show | a0001c0001t0006a0001c0018t0002a0002c0010t0023others(1): Show | a0001c0001t0006g0055a0001c0018t0002g0006a0002c0010t0023g0081others(1): Show | 4 | 110 | 0.0364 | -10 | c.232 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140240168 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0048a0001c0001t0002g0105a0001c0001t0005g0026others(1): Show | 4 | 110 | 0.0364 | -10 | c.232 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140240170 | CTCTCTAT others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0013 | a0004c0013t0008 | a0004c0013t0008g0099 | 1 | 110 | 0.0091 | -10 | c.232 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140240217 | CACACATA others(3): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 110 | 0.0091 | -10 | c.232 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140264375 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02723.hp1 NA19079.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0021 | a0001c0001t0014a0002c0002t0027a0002c0021t0009 | a0001c0001t0014g0001a0002c0002t0027g0058a0002c0021t0009g0030 | 3 | 110 | 0.0273 | -10 | c.232 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140311287 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 110 | 0.0091 | -10 | c.233 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140333682 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0052a0001c0003t0012g0053 | 2 | 110 | 0.0182 | -10 | c.233 others(29): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140419825 | GTATATGT others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG02809.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0018a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0018t0002others(1): Show | a0001c0001t0001g0045a0001c0001t0002g0105a0001c0018t0002g0006others(1): Show | 4 | 110 | 0.0364 | -10 | c.638 others(27): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140427219 | ATATATGT others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG02809.hp1 |
a0001a0002 | a0001c0001a0001c0018a0002c0002 | a0001c0001t0002a0001c0018t0002a0002c0002t0027 | a0001c0001t0002g0105a0001c0018t0002g0006a0002c0002t0027g0058 | 3 | 110 | 0.0273 | -10 | c.787 others(27): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140450722 | GCACATAC others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0023 | a0002c0023t0010 | a0002c0023t0010g0104 | 1 | 110 | 0.0091 | -10 | c.973 others(27): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140490117 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02922.hp2 |
a0001 | a0001c0006 | a0001c0006t0002a0001c0006t0004 | a0001c0006t0002g0012a0001c0006t0004g0013 | 2 | 110 | 0.0182 | -10 | c.134 others(31): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLTA_chr9_36185921_36217059 | 36186646 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG04199.hp2 NA18977.hp1 NA19087.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0070 | 4 | 400 | 0.0100 | -10 | c.-44 others(21): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4274 | chr9 | TogoVar | ||||||
CLTA_chr9_36185921_36217059 | 36197997 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050a0001c0001t0002g0158a0001c0001t0002g0159others(1): Show | 5 | 400 | 0.0125 | -10 | c.255 others(25): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CLTCL1_chr22_19174473_19296719 | 19174604 | CCCCAGCT others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0192 | 1 | 346 | 0.0029 | -10 | c.*53 others(21): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 4868 | chr22 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19183486 | AAGCAGGT others(3): Show |
A | frameshift_variant | HIGH | HG01975.hp1 NA19068.hp1 |
a0012 | a0012c0014 | a0012c0014t0002a0012c0014t0012 | a0012c0014t0002g0242a0012c0014t0012g0338 | 2 | 346 | 0.0058 | -10 | c.472 others(19): Show |
p.Tyr others(6): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 30/33 | 4808/5518 | 4721/4923 | 1574/1640 | chr22 | TogoVar | ||
CLTCL1_chr22_19174473_19296719 | 19291836 | CCCCGCCT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp1 HG01952.hp2 HG02132.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0002 | a0001c0002t0001g0150a0001c0003t0001g0154a0001c0003t0001g0155others(7): Show | 10 | 346 | 0.0289 | -10 | c.-20 others(19): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 118 | chr22 | TogoVar | ||||||
CLTC_chr17_59614895_59701956 | 59617114 | TTATATAT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG01891.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0166a0001c0001t0003g0035a0001c0001t0003g0038others(19): Show | 23 | 260 | 0.0885 | -10 | c.-30 others(21): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 2780 | chr17 | TogoVar | ||||||
CLTC_chr17_59614895_59701956 | 59692328 | AACTGGTT others(3): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0180 | 1 | 260 | 0.0039 | -10 | c.490 others(29): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CLTRN_chrX_15622318_15669805 | 15641636 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00642.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0042others(11): Show | 16 | 295 | 0.0542 | -10 | c.318 others(27): Show |
CLTRN | ENSG00000147003.7 | transcript | ENST00000380342.4 | protein_coding | 4/5 | chrX | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3507680 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0006 | a0006c0007 | a0006c0007t0015 | a0006c0007t0015g0041a0006c0007t0015g0042 | 2 | 382 | 0.0052 | -10 | c.220 others(25): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLUAP1_chr16_3496004_3544048 | 3529505 | TATATTAT others(3): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0006 | a0006c0007 | a0006c0007t0015 | a0006c0007t0015g0041a0006c0007t0015g0042 | 2 | 382 | 0.0052 | -10 | c.929 others(27): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLUAP1_chr16_3496004_3544048 | 3529640 | ATATTATA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00741.hp1 others(16): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0009 | a0001c0001t0008a0001c0004t0008a0001c0004t0009others(3): Show | a0001c0001t0008g0021a0001c0001t0008g0146a0001c0001t0008g0151others(12): Show | 19 | 382 | 0.0497 | -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 | 3529657 | ATATTATA others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp2 HG02486.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0010a0004c0005t0005 | a0001c0001t0003g0141a0001c0001t0010g0242a0004c0005t0005g0013others(6): Show | 10 | 382 | 0.0262 | -10 | c.929 others(25): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |