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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLPTM1L_chr5_1312752_1350099 | 1342039 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314a0001c0001t0001g0321 | 2 | 370 | 0.0054 | 16 | c.264 others(31): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1342039 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 370 | 0.0027 | 16 | c.264 others(31): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1342040 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0250 | 1 | 370 | 0.0027 | 16 | c.264 others(31): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1345620 | A | AGCCCAGC others(9): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 370 | 0.0027 | 16 | c.-78 others(25): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 522 | chr5 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65160623 | T | TCTCTCTC others(9): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0152 | 1 | 190 | 0.0053 | 16 | c.716 others(33): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 6/13 | chr15 | TogoVar | ||||||
CLRN1_chr3_150921567_150977727 | 150941134 | G | GTCTATCT others(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02074.hp2 HG02135.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0087a0001c0001t0003g0082a0001c0001t0005g0036others(3): Show | 6 | 408 | 0.0147 | 16 | c.433 others(31): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
CLRN1_chr3_150921567_150977727 | 150941138 | G | GTCTATCT others(9): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0133 | 1 | 408 | 0.0025 | 16 | c.433 others(31): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
CLRN2_chr4_17510165_17532104 | 17524204 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03654.hp2 NA19002.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0067a0001c0001t0001g0083 | 4 | 442 | 0.0091 | 16 | c.433 others(33): Show |
CLRN2 | ENSG00000249581.2 | transcript | ENST00000511148.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLRN2_chr4_17510165_17532104 | 17524235 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 442 | 0.0023 | 16 | c.433 others(33): Show |
CLRN2 | ENSG00000249581.2 | transcript | ENST00000511148.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLSTN1_chr1_9723926_9828965 | 9747176 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0065 | 1 | 270 | 0.0037 | 16 | c.985 others(33): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
CLSTN1_chr1_9723926_9828965 | 9768941 | G | GAGGGAGG others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01981.hp2 NA18940.hp2 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0063a0003c0004t0002g0064a0003c0004t0002g0065others(5): Show | 8 | 270 | 0.0296 | 16 | c.214 others(33): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
CLSTN1_chr1_9723926_9828965 | 9776862 | T | TTATCTAT others(9): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 270 | 0.0037 | 16 | c.92- others(31): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
CLSTN1_chr1_9723926_9828965 | 9798124 | G | GAGAGGGG others(9): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 270 | 0.0037 | 16 | c.92- others(33): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 139953931 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01123.hp2 HG01261.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0039a0001c0003t0003others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0063a0001c0001t0001g0069others(4): Show | 7 | 110 | 0.0636 | 16 | c.109 others(35): 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(9): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG01261.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0056a0001c0001t0002g0105others(16): Show | 19 | 110 | 0.1727 | 16 | c.109 others(35): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 139998336 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 NA18977.hp1 |
a0002a0004 | a0002c0004a0002c0021a0004c0013 | a0002c0004t0001a0002c0021t0009a0004c0013t0008 | a0002c0004t0001g0072a0002c0021t0009g0030a0004c0013t0008g0099 | 3 | 110 | 0.0273 | 16 | c.109 others(35): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140071832 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01169.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0048a0001c0001t0002g0091a0001c0001t0006g0040others(17): Show | 20 | 110 | 0.1818 | 16 | 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 | 140071860 | T | TAAATAAA others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0012 | a0003c0012t0008 | a0003c0012t0008g0041 | 1 | 110 | 0.0091 | 16 | 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 | 140076625 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0052 | 1 | 110 | 0.0091 | 16 | c.110 others(35): 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(9): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0004 | a0002c0004t0038 | a0002c0004t0038g0108 | 1 | 110 | 0.0091 | 16 | c.110 others(35): 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(9): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03130.hp2 |
a0001a0002 | a0001c0008a0002c0005 | a0001c0008t0009a0002c0005t0004 | a0001c0008t0009g0100a0002c0005t0004g0092 | 2 | 110 | 0.0182 | 16 | c.110 others(35): 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(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01081.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0035others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0063a0001c0001t0014g0032others(15): Show | 18 | 110 | 0.1636 | 16 | c.232 others(35): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140211398 | T | TCACAGAC others(9): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0043 | 1 | 110 | 0.0091 | 16 | c.232 others(35): 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(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0002c0004t0007 | a0001c0003t0003g0010a0002c0004t0007g0085 | 2 | 110 | 0.0182 | 16 | c.232 others(35): 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(9): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0004 | a0002c0004t0038 | a0002c0004t0038g0108 | 1 | 110 | 0.0091 | 16 | c.232 others(35): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140311287 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19030.hp2 |
a0001a0002 | a0001c0009a0002c0002 | a0001c0009t0018a0002c0002t0002 | a0001c0009t0018g0018a0002c0002t0002g0002 | 2 | 110 | 0.0182 | 16 | c.233 others(35): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140377022 | C | CACACAGA others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0004 | 1 | 110 | 0.0091 | 16 | c.233 others(35): 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(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01081.hp2 others(34): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(25): Show | a0001c0001t0001g0019a0001c0001t0001g0063a0001c0001t0001g0076others(34): Show | 37 | 110 | 0.3364 | 16 | c.233 others(35): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140438431 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG02965.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0006a0001c0001t0013a0002c0002t0004others(3): Show | a0001c0001t0006g0095a0001c0001t0013g0017a0002c0002t0004g0107others(4): Show | 7 | 110 | 0.0636 | 16 | c.788 others(35): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140521129 | T | TACTTCTA others(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG00738.hp2 others(45): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(29): Show | a0001c0001t0001g0019a0001c0001t0001g0063a0001c0001t0001g0093others(45): Show | 48 | 110 | 0.4364 | 16 | c.134 others(37): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140528636 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02970.hp1 HG03130.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0011 | a0001c0001t0002a0002c0002t0002a0005c0011t0002 | a0001c0001t0002g0091a0002c0002t0002g0002a0002c0002t0002g0029others(2): Show | 5 | 110 | 0.0455 | 16 | c.134 others(35): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN3_chr12_7125371_7163945 | 7137795 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03130.hp2 NA19002.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(1): Show | 4 | 394 | 0.0102 | 16 | c.121 others(33): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CLSTN3_chr12_7125371_7163945 | 7148156 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG02056.hp2 NA19090.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0278a0001c0001t0001g0312 | 3 | 394 | 0.0076 | 16 | c.184 others(33): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CLTA_chr9_36185921_36217059 | 36216327 | A | ATGTGTGT others(9): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01515.hp1 HG01517.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0004a0001c0001t0001g0029a0001c0001t0001g0137others(7): Show | 11 | 400 | 0.0275 | 16 | c.*45 others(27): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4269 | chr9 | TogoVar | ||||||
CLTRN_chrX_15622318_15669805 | 15630363 | A | AGAAAGAA others(9): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 295 | 0.0068 | 16 | c.513 others(33): Show |
CLTRN | ENSG00000147003.7 | transcript | ENST00000380342.4 | protein_coding | 5/5 | chrX | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 627015 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02080.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135a0001c0001t0001g0371a0001c0001t0002g0126others(1): Show | 4 | 414 | 0.0097 | 16 | c.424 others(29): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 627017 | A | AAGAGAAA others(9): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 414 | 0.0024 | 16 | c.424 others(29): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 645810 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 414 | 0.0024 | 16 | c.139 others(33): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61357494 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG01109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0002g0162others(2): Show | 5 | 184 | 0.0272 | 16 | c.456 others(35): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61357500 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 184 | 0.0054 | 16 | c.456 others(35): 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(9): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0030 | a0001c0001t0015g0049a0001c0001t0030g0173 | 2 | 184 | 0.0109 | 16 | c.630 others(35): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61486098 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01515.hp1 HG02615.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0015a0001c0001t0001g0081a0001c0001t0001g0086others(10): Show | 13 | 184 | 0.0707 | 16 | c.978 others(35): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS2_chr6_122991235_123077925 | 123075281 | T | TTTTCTTT others(9): Show |
downstream_gene_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0187 | 1 | 336 | 0.0030 | 16 | c.*11 others(29): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2357 | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123075401 | C | CCCTTCCT others(9): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0173a0001c0001t0015g0174a0001c0001t0015g0175others(1): Show | 4 | 336 | 0.0119 | 16 | c.*11 others(29): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2477 | chr6 | TogoVar | ||||||
CLXN_chr8_48718391_48740268 | 48726484 | T | TCATCCAT others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 394 | 0.0025 | 16 | c.577 others(33): Show |
CLXN | ENSG00000034239.11 | transcript | ENST00000262103.8 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
CLXN_chr8_48718391_48740268 | 48726870 | A | AATCTATC others(9): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 394 | 0.0025 | 16 | c.577 others(33): Show |
CLXN | ENSG00000034239.11 | transcript | ENST00000262103.8 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99601833 | C | CTTTTTTT others(9): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01074.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0180others(4): Show | 7 | 218 | 0.0321 | 16 | c.-48 others(27): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 4856 | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99631331 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0118 | 1 | 218 | 0.0046 | 16 | c.62+ others(33): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99676182 | G | GTCCTTCC others(9): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 218 | 0.0046 | 16 | c.62+ others(33): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99676186 | G | GTCCGTCC others(9): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01433.hp2 HG02109.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0128a0001c0001t0001g0133a0001c0001t0001g0140others(3): Show | 6 | 218 | 0.0275 | 16 | c.62+ others(33): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |