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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLRN1_chr3_150921567_150977727 | 150969314 | T | TATATA | intron_variant | MODIFIER | HG02080.hp1 NA18747.hp2 NA18944.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0005 | a0001c0002t0001g0342 a0001c0002t0003g0025 a0001c0002t0003g0345 others(2): Show |
6 | 344 | 0.0174 | 5 | c.253 others(22): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
CLSPN_chr1_35727112_35774978 | 35742030 | C | CCCAGA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(36): Show |
a0001a0006a0007others(2): Show | a0001c0001a0006c0007a0007c0006others(2): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0017others(4): Show | a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0011 others(26): Show |
39 | 294 | 0.1327 | 5 | c.314 others(24): Show |
CLSPN | ENSG00000092853.14 | transcript | ENST00000318121.8 | protein_coding | 18/24 | chr1 | TogoVar | |||||||
CLSPN_chr1_35727112_35774978 | 35765994 | C | CTCTCT | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0017c0019 | a0001c0001t0006a0002c0002t0002a0017c0019t0006 | a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0215 others(3): Show |
8 | 14 | 0.5714 | 5 | c.25- others(18): Show |
CLSPN | ENSG00000092853.14 | transcript | ENST00000318121.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
CLSPN_chr1_35727112_35774978 | 35765994 | C | CTCTTT | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp2 others(95): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0008others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(68): Show |
98 | 104 | 0.9423 | 5 | c.25- others(18): Show |
CLSPN | ENSG00000092853.14 | transcript | ENST00000318121.8 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
CLSTN1_chr1_9723926_9828965 | 9779855 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01981.hp2 NA18940.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0063 a0003c0004t0002g0064 a0003c0004t0002g0066 others(4): Show |
7 | 265 | 0.0264 | 5 | c.92- others(20): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
CLSTN1_chr1_9723926_9828965 | 9787402 | A | ATTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01981.hp2 NA18968.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0063 a0003c0004t0002g0065 a0003c0004t0002g0066 others(2): Show |
5 | 237 | 0.0211 | 5 | c.92- others(22): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140076625 | G | GTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01358.hp1 HG01433.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(4): Show | a0001c0001t0001g0068 a0001c0001t0013g0017 a0001c0001t0014g0001 others(4): Show |
7 | 16 | 0.4375 | 5 | c.110 others(24): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140171687 | T | TATATA | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00735.hp2 others(87): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(53): Show | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0037 others(87): Show |
90 | 109 | 0.8257 | 5 | c.110 others(22): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140205618 | G | GCCCCC | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG01358.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0056 a0001c0001t0002g0107 a0001c0001t0007g0084 others(8): Show |
11 | 101 | 0.1089 | 5 | c.232 others(24): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140222874 | G | GAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01433.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0006t0004others(5): Show | a0001c0001t0001g0093 a0001c0001t0006g0040 a0001c0006t0004g0098 others(5): Show |
8 | 16 | 0.5000 | 5 | c.232 others(24): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140251584 | G | GTTCCT | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01109.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0030others(8): Show | a0001c0001t0002g0033 a0001c0001t0005g0089 a0001c0001t0030g0059 others(8): Show |
11 | 27 | 0.4074 | 5 | c.232 others(24): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140311287 | C | CTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02622.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0019a0002c0002others(3): Show | a0001c0001t0006a0001c0001t0013a0001c0019t0021others(5): Show | a0001c0001t0006g0055 a0001c0001t0006g0057 a0001c0001t0013g0017 others(8): Show |
11 | 24 | 0.4583 | 5 | c.233 others(24): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140357397 | T | TCAGAG | intron_variant | MODIFIER | HG03041.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0055 a0001c0001t0013g0017 |
2 | 110 | 0.0182 | 5 | c.233 others(24): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140379538 | C | CAGAGT | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp2 HG06807.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0036a0004c0012t0008 | a0001c0001t0001g0037 a0001c0001t0036g0044 a0004c0012t0008g0041 |
3 | 110 | 0.0273 | 5 | c.233 others(24): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140419482 | C | CAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02615.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0043a0001c0003t0012others(5): Show | a0001c0001t0001g0048 a0001c0001t0043g0064 a0001c0003t0012g0052 others(7): Show |
10 | 67 | 0.1493 | 5 | c.638 others(22): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140438431 | T | TAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01123.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0045 a0001c0001t0001g0076 a0001c0001t0002g0091 others(23): Show |
26 | 29 | 0.8966 | 5 | c.788 others(24): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140456801 | A | AAAATG | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01123.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0002g0107 others(48): Show |
51 | 110 | 0.4636 | 5 | c.974 others(22): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN3_chr12_7125371_7163945 | 7126510 | G | GGTGGT | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01169.hp2 HG02698.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0004a0004c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(6): Show |
9 | 361 | 0.0249 | 5 | c.-41 others(16): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 3860 | chr12 | TogoVar | |||||||
CLSTN3_chr12_7125371_7163945 | 7147396 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG02698.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0172 a0001c0002t0001g0178 a0001c0002t0002g0036 others(3): Show |
7 | 70 | 0.1000 | 5 | c.184 others(24): Show |
CLSTN3 | ENSG00000139182.15 | transcript | ENST00000266546.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLTA_chr9_36185921_36217059 | 36196287 | A | AAAAAT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00621.hp2 others(147): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(74): Show |
150 | 391 | 0.3836 | 5 | c.218 others(22): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLTC_chr17_59614895_59701956 | 59684806 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00639.hp1 others(82): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0094 a0001c0001t0001g0215 a0001c0001t0002g0001 others(67): Show |
85 | 125 | 0.6800 | 5 | c.443 others(22): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLTC_chr17_59614895_59701956 | 59692323 | T | TAATAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(225): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(201): Show |
228 | 258 | 0.8837 | 5 | c.490 others(24): Show |
CLTC | ENSG00000141367.13 | transcript | ENST00000269122.8 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3496873 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02273.hp1 HG02451.hp2 others(16): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0001c0001t0011a0003c0003t0003others(2): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(15): Show |
19 | 335 | 0.0567 | 5 | c.-41 others(16): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 4130 | chr16 | TogoVar | |||||||
CLUAP1_chr16_3496004_3544048 | 3529896 | T | TATATA | intron_variant | MODIFIER | HG02486.hp1 HG02602.hp1 HG02622.hp2 others(8): Show |
a0001a0005 | a0001c0004a0005c0006 | a0001c0004t0006a0005c0006t0006a0005c0006t0012 | a0001c0004t0006g0008 a0001c0004t0006g0015 a0005c0006t0006g0053 others(5): Show |
11 | 380 | 0.0289 | 5 | c.929 others(20): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 626992 | A | AGAAAG | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0181 a0001c0001t0001g0231 |
3 | 394 | 0.0076 | 5 | c.424 others(20): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 626996 | A | AAAGAG | intron_variant | MODIFIER | HG01361.hp2 HG01975.hp1 NA18941.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0157 others(6): Show |
9 | 370 | 0.0243 | 5 | c.424 others(19): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 626996 | A | AGAAAG | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0332 others(2): Show |
5 | 366 | 0.0137 | 5 | c.424 others(20): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627004 | A | AGAAAG | intron_variant | MODIFIER | HG00738.hp2 NA18942.hp1 NA18977.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0079 others(2): Show |
5 | 386 | 0.0130 | 5 | c.424 others(18): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627013 | A | AGAAAG | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00738.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 others(27): Show |
30 | 376 | 0.0798 | 5 | c.424 others(18): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 645792 | T | TAAAAA | intron_variant | MODIFIER | HG02027.hp1 HG02074.hp1 HG02300.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043 a0001c0001t0001g0223 a0001c0001t0001g0229 others(5): Show |
8 | 319 | 0.0251 | 5 | c.139 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645808 | A | ATATAT | intron_variant | MODIFIER | HG00738.hp2 NA18969.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0124 |
3 | 394 | 0.0076 | 5 | c.139 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 645810 | A | AAATAT | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG02273.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080 a0001c0001t0001g0176 a0001c0001t0001g0250 others(6): Show |
9 | 197 | 0.0457 | 5 | c.139 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645810 | A | ATATAT | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01123.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0122 a0001c0001t0001g0163 others(8): Show |
11 | 199 | 0.0553 | 5 | c.139 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | chr18 | TogoVar | |||||||
CLU_chr8_27591917_27619700 | 27593372 | A | AGTTAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0009 a0001c0001t0001g0203 a0001c0001t0002g0008 others(34): Show |
65 | 112 | 0.5804 | 5 | c.*48 others(16): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3544 | chr8 | TogoVar | |||||||
CLU_chr8_27591917_27619700 | 27607339 | A | AAAAAC | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(183): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0010a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0026 others(84): Show |
186 | 336 | 0.5536 | 5 | c.247 others(20): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CLVS1_chr8_61282970_61506629 | 61357489 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG02738.hp1 HG03669.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0145 a0001c0001t0001g0165 a0001c0001t0001g0168 others(5): Show |
8 | 177 | 0.0452 | 5 | c.456 others(24): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61410066 | G | GTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0082 a0001c0001t0002g0027 others(4): Show |
7 | 106 | 0.0660 | 5 | c.630 others(24): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123002586 | T | TAATAA | intron_variant | MODIFIER | HG02109.hp2 HG02602.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026a0001c0001t0042others(1): Show | a0001c0001t0001g0013 a0001c0001t0026g0093 a0001c0001t0042g0191 others(1): Show |
5 | 61 | 0.0820 | 5 | c.389 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123040769 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01106.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0075 a0001c0001t0003g0113 a0001c0001t0006g0193 others(15): Show |
18 | 174 | 0.1034 | 5 | c.565 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123061868 | T | TATATA | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01106.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0012others(23): Show | a0001c0001t0007g0009 a0001c0001t0007g0249 a0001c0001t0007g0250 others(49): Show |
58 | 334 | 0.1737 | 5 | c.897 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99679304 | A | AAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00609.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0125 others(37): Show |
40 | 111 | 0.3604 | 5 | c.62+ others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99716381 | C | CTTTCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(84): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(84): Show |
87 | 216 | 0.4028 | 5 | c.63- others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99716395 | C | CTTTCT | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01433.hp1 others(15): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0013 | a0001c0001t0001a0002c0002t0001a0007c0013t0001 | a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0062 others(15): Show |
18 | 213 | 0.0845 | 5 | c.63- others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99754087 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG00741.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 others(6): Show |
9 | 50 | 0.1800 | 5 | c.63- others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99819416 | T | TATATA | intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0029 |
2 | 68 | 0.0294 | 5 | c.250 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99833031 | T | TATATA | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01243.hp1 others(7): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0009c0007t0001 | a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0135 others(7): Show |
10 | 178 | 0.0562 | 5 | c.250 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
CLYBL_chr13_99601690_99897570 | 99843604 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01175.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0096 others(2): Show |
5 | 36 | 0.1389 | 5 | c.250 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99862907 | A | AGACTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(108): Show |
a0001a0009 | a0001c0001a0001c0005a0009c0007 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(108): Show |
111 | 216 | 0.5139 | 5 | c.439 others(18): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22053877 | T | TCAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0176 others(2): Show |
13 | 448 | 0.0290 | 5 | c.261 others(22): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CMBL_chr5_10272595_10312902 | 10283092 | G | GAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(54): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0014others(2): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0018 others(34): Show |
57 | 298 | 0.1913 | 5 | c.467 others(20): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 4/5 | chr5 | TogoVar |