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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLIC4_chr1_24740447_24849321 | 24820067 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 175 | 0.0057 | 24 | c.308 others(41): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 45922823 | A | AAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 a0001c0001t0002g0170 |
2 | 233 | 0.0086 | 24 | c.407 others(41): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 4/5 | chr6 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 45958439 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01169.hp1 NA18943.hp2 NA18948.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0031a0001c0001t0037others(1): Show | a0001c0001t0001g0221 a0001c0001t0001g0242 a0001c0001t0031g0220 others(3): Show |
6 | 333 | 0.0180 | 24 | c.64- others(39): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 45958441 | T | TATATACA others(17): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0280 | 1 | 302 | 0.0033 | 24 | c.64- others(39): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 45958441 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01258.hp2 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0181 a0001c0001t0002g0188 a0001c0001t0002g0194 |
3 | 304 | 0.0099 | 24 | c.64- others(39): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 45958443 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01433.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0041 | a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0012g0003 others(1): Show |
5 | 208 | 0.0240 | 24 | c.64- others(39): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 45958445 | T | TATATACA others(17): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 241 | 0.0041 | 24 | c.64- others(39): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 46020832 | G | GATAAAAG others(17): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 338 | 0.0030 | 24 | c.-53 others(35): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 4973 | chr6 | TogoVar | |||||||
CLIC6_chr21_34663994_34723223 | 34716862 | T | TCTCTCTC others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0015 | a0002c0015t0050 | a0002c0015t0050g0051 | 1 | 163 | 0.0061 | 24 | c.*38 others(33): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 6/6 | 382 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CLIC6_chr21_34663994_34723223 | 34716862 | T | TCTCTCTC others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0080 | a0001c0003t0080g0044 | 1 | 163 | 0.0061 | 24 | c.*38 others(33): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 6/6 | 382 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CLIC6_chr21_34663994_34723223 | 34716863 | C | CTCTCTCT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0009 | a0002c0009t0056 | a0002c0009t0056g0049 | 1 | 307 | 0.0033 | 24 | c.*38 others(33): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 6/6 | 382 | chr21 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122276382 | C | CCACACAC others(17): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 94 | 0.0106 | 24 | c.396 others(43): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 24/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122293002 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 | 1 | 152 | 0.0066 | 24 | c.359 others(43): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 20/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122330597 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0220 a0001c0001t0011g0230 |
2 | 33 | 0.0606 | 24 | c.286 others(43): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 15/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122330597 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0221 | 1 | 32 | 0.0313 | 24 | c.286 others(43): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 15/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122379943 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01256.hp2 HG02071.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0201 others(5): Show |
8 | 145 | 0.0552 | 24 | c.85+ others(37): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 2/25 | chr12 | TogoVar | |||||||
CLIP1_chr12_122266469_122427669 | 122393912 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0227 |
3 | 55 | 0.0545 | 24 | c.-10 others(45): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
CLIP2_chr7_74284407_74410935 | 74361176 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG01070.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0021 a0001c0001t0001g0224 a0001c0001t0002g0006 others(15): Show |
18 | 46 | 0.3913 | 24 | c.131 others(41): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74361205 | T | TTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0079 | 1 | 272 | 0.0037 | 24 | c.131 others(41): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74399107 | C | CTGGGCAG others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(177): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(177): Show |
180 | 276 | 0.6522 | 24 | c.288 others(43): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLK2_chr1_155257868_155278504 | 155265592 | A | AATAAATA others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01496.hp1 HG02523.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0093 others(1): Show |
10 | 191 | 0.0524 | 24 | c.933 others(39): Show |
CLK2 | ENSG00000176444.19 | transcript | ENST00000368361.9 | protein_coding | 8/12 | chr1 | TogoVar | |||||||
CLMN_chr14_95176940_95324908 | 95245240 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0021 | a0001c0021t0003 | a0001c0021t0003g0070 | 1 | 272 | 0.0037 | 24 | c.83- others(41): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150416 | T | TAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01346.hp2 HG01517.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0003g0169 a0001c0001t0005g0069 a0001c0001t0006g0131 others(8): Show |
11 | 176 | 0.0625 | 24 | c.28+ others(41): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 HG04199.hp1 NA19083.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0016a0002c0002t0038 | a0001c0001t0001g0089 a0001c0001t0016g0019 a0002c0002t0038g0181 |
3 | 127 | 0.0236 | 24 | c.28+ others(41): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 a0001c0001t0002g0236 |
2 | 126 | 0.0159 | 24 | c.28+ others(41): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03516.hp2 NA18945.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0002g0190 a0001c0001t0008g0230 a0001c0001t0011g0031 others(1): Show |
4 | 128 | 0.0313 | 24 | c.28+ others(41): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0214 | 1 | 125 | 0.0080 | 24 | c.28+ others(41): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLN3_chr16_28472279_28497074 | 28478617 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 175 | 0.0057 | 24 | c.105 others(41): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763603 | G | GCCCCGCC others(17): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 409 | 0.0049 | 24 | c.-40 others(33): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 185 | chr8 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10535213 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02965.hp2 others(8): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0001g0189 a0001c0001t0001g0284 a0001c0001t0006g0010 others(8): Show |
11 | 38 | 0.2895 | 24 | c.603 others(41): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537694 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 1 | 310 | 0.0032 | 24 | c.602 others(41): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537698 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0016 | a0001c0001t0003g0091 a0001c0001t0004g0056 a0001c0001t0016g0279 |
3 | 298 | 0.0101 | 24 | c.602 others(41): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537702 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02896.hp1 NA18522.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0139 a0001c0001t0002g0277 a0001c0001t0005g0309 others(3): Show |
6 | 255 | 0.0235 | 24 | c.602 others(41): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 15 | 0.0667 | 24 | c.602 others(41): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02015.hp2 HG02074.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0173 a0001c0001t0002g0165 a0001c0001t0004g0050 others(12): Show |
15 | 29 | 0.5172 | 24 | c.602 others(41): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01255.hp1 HG01261.hp1 others(13): Show |
a0001a0009 | a0001c0001a0001c0005a0009c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0037 a0001c0001t0003g0221 a0001c0001t0004g0009 others(13): Show |
16 | 30 | 0.5333 | 24 | c.602 others(41): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10578579 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0088 |
2 | 28 | 0.0714 | 24 | c.112 others(41): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 4/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10655334 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 65 | 0.0154 | 24 | c.11+ others(41): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLOCK_chr4_55422903_55551909 | 55445582 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 96 | 0.0104 | 24 | c.154 others(41): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | |||||||
CLOCK_chr4_55422903_55551909 | 55530774 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0312 | 1 | 8 | 0.1250 | 24 | c.-29 others(45): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 1/22 | chr4 | TogoVar | |||||||
CLPB_chr11_72280495_72439531 | 72286223 | G | GTTTTTTT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01928.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0083 | a0001c0001t0037g0151 a0001c0001t0083g0112 |
2 | 58 | 0.0345 | 24 | c.*71 others(35): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 17/17 | 7143 | chr11 | TogoVar | ||||||
CLPSL1_chr6_35776019_35793150 | 35791913 | C | CAAATAAA others(17): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0018 | 1 | 350 | 0.0029 | 24 | c.*39 others(35): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3764 | chr6 | TogoVar | |||||||
CLPX_chr15_65143219_65190342 | 65145958 | A | AAAATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 165 | 0.0061 | 24 | c.*48 others(35): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2260 | chr15 | TogoVar | |||||||
CLRN1_chr3_150921567_150977727 | 150969313 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02717.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0006 | a0001c0001t0002g0179 a0001c0003t0006g0364 |
2 | 295 | 0.0068 | 24 | c.253 others(41): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
CLSTN1_chr1_9723926_9828965 | 9776788 | C | CTCTATCT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01981.hp2 NA18983.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0063 a0003c0004t0002g0068 a0003c0004t0002g0069 |
3 | 249 | 0.0120 | 24 | c.92- others(39): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 139955112 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0031 | a0001c0001t0006g0055 a0001c0006t0031g0024 |
2 | 15 | 0.1333 | 24 | c.109 others(43): 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(17): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 10 | 0.1000 | 24 | c.110 others(43): 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(17): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0081 | 1 | 57 | 0.0175 | 24 | c.232 others(43): 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(17): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0004 | a0002c0004t0017 | a0002c0004t0017g0061 | 1 | 57 | 0.0175 | 24 | c.232 others(43): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140567073 | C | CACAACAA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0010 | a0002c0010t0023 | a0002c0010t0023g0079 | 1 | 110 | 0.0091 | 24 | c.*83 others(33): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 17/17 | 857 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |