| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COL18A1_chr21_45400165_45518720 | 45502024 | AGAAGGAC others(37): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0032 | a0032c0052 | a0032c0052t0002 | a0032c0052t0002g0077 | 1 | 292 | 0.0034 | -44 | c.268 others(63): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45506730 | ACCCACCT others(37): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01123.hp1 others(2): Show |
a0001a0009 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0203a0001c0003t0001g0221a0001c0004t0001g0225others(2): Show | 5 | 292 | 0.0171 | -44 | c.321 others(61): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 37/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45506745 | AGAGCCCT others(37): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(144): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(55): Show | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0033others(144): Show | 147 | 292 | 0.5034 | -44 | c.321 others(61): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 37/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL1A2_chr7_94389895_94436227 | 94397150 | CCATTTTC others(37): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0081 | 1 | 438 | 0.0023 | -44 | c.71- others(57): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1/51 | chr7 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178250710 | TGGTGGTT others(37): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00639.hp2 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(10): Show | a0001c0001t0001g0002a0001c0001t0004g0063a0001c0004t0001g0007others(58): Show | 61 | 236 | 0.2585 | -44 | c.101 others(61): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 17/28 | chr5 | TogoVar | ||||||
| COL25A1_chr4_108803725_109307658 | 108808299 | CTCACGCC others(37): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0060 | 1 | 130 | 0.0077 | -44 | c.*55 others(55): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 425 | chr4 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110219836 | GTATATAT others(37): Show |
G | intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0246 | 1 | 344 | 0.0029 | -44 | c.145 others(61): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110219858 | ATATATGT others(37): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0080a0004c0005t0001g0081 | 2 | 344 | 0.0058 | -44 | c.145 others(61): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
| COL4A4_chr2_226997714_227169205 | 227041759 | GAAGGAAG others(37): Show |
G | intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0225 | 1 | 284 | 0.0035 | -44 | c.350 others(61): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
| COL4A4_chr2_226997714_227169205 | 227041783 | GAAGGGAA others(37): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0013 | a0013c0013 | a0013c0013t0006 | a0013c0013t0006g0212 | 1 | 284 | 0.0035 | -44 | c.350 others(61): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134790569 | CCCATCCA others(37): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0187 | 1 | 272 | 0.0037 | -44 | c.270 others(63): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL5A3_chr19_9954561_10015504 | 9983529 | GAAGAAAG others(37): Show |
G | intron_variant | MODIFIER | NA19088.hp2 | a0016 | a0016c0107 | a0016c0107t0002 | a0016c0107t0002g0235 | 1 | 412 | 0.0024 | -44 | c.240 others(63): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | ||||||
| COL6A1_chr21_45976770_46010048 | 45981271 | ACGGCGAG others(37): Show |
A | upstream_gene_variant | MODIFIER | NA19079.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0058 | 1 | 128 | 0.0078 | -44 | c.-57 others(53): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 498 | chr21 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176151353 | AAAAGAAA others(37): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 300 | 0.0033 | -44 | c.763 others(61): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
| COPB2_chr3_139352406_139394647 | 139380926 | CAGAAGAA others(37): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 264 | 0.0038 | -44 | c.142 others(61): Show |
COPB2 | ENSG00000184432.11 | transcript | ENST00000333188.10 | protein_coding | 2/21 | chr3 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130513315 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0318a0001c0001t0008g0321a0001c0001t0008g0322 | 3 | 326 | 0.0092 | -44 | c.215 others(63): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
| COX19_chr7_959852_980549 | 960469 | GCGGGTGC others(37): Show |
G | downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 432 | 0.0023 | -44 | c.*88 others(55): Show |
COX19 | ENSG00000240230.6 | transcript | ENST00000344111.4 | protein_coding | 4382 | chr7 | TogoVar | ||||||
| CPNE9_chr3_9698833_9734908 | 9725632 | ATATACAT others(37): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 440 | 0.0023 | -44 | c.124 others(61): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0045 | 1 | 126 | 0.0079 | -44 | c.849 others(59): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CRACR2A_chr12_3610328_3758109 | 3746797 | TGAAGGAC others(37): Show |
T | intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0280 | 1 | 320 | 0.0031 | -44 | c.-38 others(63): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
| CREM_chr10_35121846_35217953 | 35204487 | CTACTCGG others(37): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 294 | 0.0034 | -44 | c.599 others(61): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 6/7 | chr10 | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1211852 | CATGGATG others(37): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(60): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(27): Show | a0001c0001t0001g0007a0001c0001t0001g0027a0001c0001t0001g0092others(60): Show | 63 | 167 | 0.3773 | -44 | c.79+ others(57): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240984828 | ACACACAC others(37): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG06807.hp2 others(1): Show |
a0011a0032a0047others(1): Show | a0011c0043a0032c0051a0047c0090others(1): Show | a0011c0043t0001a0032c0051t0001a0047c0090t0001others(1): Show | a0011c0043t0001g0171a0032c0051t0001g0073a0047c0090t0001g0112others(1): Show | 4 | 350 | 0.0114 | -44 | c.455 others(63): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CRYBA4_chr22_26616963_26635669 | 26627446 | CCTTCTTT others(37): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0137a0001c0001t0001g0140others(3): Show | 8 | 402 | 0.0199 | -44 | c.301 others(59): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
| CSDC2_chr22_41556010_41581666 | 41572367 | CCCACCCA others(37): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0088 | 1 | 288 | 0.0035 | -44 | c.176 others(59): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CSF2RA_chrX_1263814_1314935 | 1281012 | CCTCCTCC others(37): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 | 1 | 159 | 0.0063 | -44 | c.-26 others(61): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CSF2RA_chrX_1263814_1314935 | 1291919 | ACCCTGTA others(37): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01106.hp1 others(23): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0068a0001c0001t0001g0076a0001c0001t0001g0086others(23): Show | 26 | 159 | 0.1635 | -44 | c.646 others(61): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CSGALNACT1_chr8_19399161_19762277 | 19666781 | AAGAAAGA others(37): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0183 | 1 | 238 | 0.0042 | -44 | c.-39 others(65): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3350184 | TATAACTT others(37): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00735.hp2 others(28): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0005others(23): Show | a0001c0002t0002a0001c0002t0028a0001c0002t0061others(28): Show | a0001c0002t0002g0083a0001c0002t0028g0005a0001c0002t0061g0069others(28): Show | 31 | 126 | 0.2460 | -44 | c.330 others(63): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 21/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3411918 | GCACGTAT others(37): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 |
a0005 | a0005c0064a0005c0065 | a0005c0064t0051a0005c0065t0023 | a0005c0064t0051g0078a0005c0065t0023g0050 | 2 | 126 | 0.0159 | -44 | c.156 others(63): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3777756 | TGCAGAGT others(37): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(33): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0005others(32): Show | a0001c0001t0039a0001c0004t0020a0001c0004t0063others(33): Show | a0001c0001t0039g0017a0001c0004t0020g0086a0001c0004t0063g0095others(33): Show | 36 | 126 | 0.2857 | -44 | c.819 others(63): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4295188 | TTATGCAC others(37): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(64): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(61): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0061others(63): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(64): Show | 67 | 126 | 0.5318 | -44 | c.415 others(65): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4761868 | TATCTATC others(37): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0031 | a0031c0069 | a0031c0069t0043 | a0031c0069t0043g0100 | 1 | 126 | 0.0079 | -44 | c.86- others(63): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4920902 | AAAAGAAA others(37): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0085 | a0001c0085t0020 | a0001c0085t0020g0060 | 1 | 126 | 0.0079 | -44 | c.85+ others(61): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112410608 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0043 | 1 | 80 | 0.0125 | -44 | c.539 others(63): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | ||||||
| CSNK1A1_chr5_149487982_149556439 | 149542596 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02451.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0220a0001c0001t0003g0221a0001c0001t0003g0227others(2): Show | 5 | 390 | 0.0128 | -44 | c.230 others(61): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
| CSNK1A1_chr5_149487982_149556439 | 149542628 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG02056.hp2 NA18946.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0023a0001c0001t0001g0072 | 3 | 390 | 0.0077 | -44 | c.230 others(61): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
| CSNK1A1_chr5_149487982_149556439 | 149542652 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 390 | 0.0026 | -44 | c.230 others(61): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
| CSNK1G2_chr19_1936172_1986338 | 1985243 | GGGGGAGG others(37): Show |
G | downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 382 | 0.0026 | -44 | c.*50 others(55): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 3906 | chr19 | TogoVar | ||||||
| CSRP3_chr11_19177030_19206983 | 19197356 | CCCTCCCT others(37): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02145.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0252a0001c0001t0001g0257a0001c0001t0003g0249 | 3 | 416 | 0.0072 | -44 | c.-29 others(61): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CSRP3_chr11_19177030_19206983 | 19197360 | CCCTCCCT others(37): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 416 | 0.0024 | -44 | c.-29 others(61): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CSRP3_chr11_19177030_19206983 | 19197364 | CCCTCCCT others(37): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01255.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180a0001c0001t0001g0203a0001c0001t0001g0208others(2): Show | 5 | 416 | 0.0120 | -44 | c.-29 others(61): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CSRP3_chr11_19177030_19206983 | 19197372 | CCCTCCCT others(37): Show |
C | intron_variant | MODIFIER | HG02735.hp1 HG02818.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0002t0002g0294 | 3 | 416 | 0.0072 | -44 | c.-29 others(61): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CTDP1_chr18_79674803_79759503 | 79684569 | ATTGTTGT others(37): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp1 HG02145.hp1 others(7): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0003a0001c0014others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0014t0001others(5): Show | a0001c0001t0001g0084a0001c0003t0001g0080a0001c0003t0001g0081others(7): Show | 10 | 378 | 0.0265 | -44 | c.314 others(61): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CTDP1_chr18_79674803_79759503 | 79741143 | TTGCGGTT others(37): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0095 | 1 | 378 | 0.0027 | -44 | c.274 others(63): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CTDP1_chr18_79674803_79759503 | 79742241 | GGAGAGAG others(37): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02886.hp1 |
a0001 | a0001c0008a0001c0013 | a0001c0008t0001a0001c0013t0001 | a0001c0008t0001g0201a0001c0013t0001g0091a0001c0013t0001g0092 | 3 | 378 | 0.0079 | -44 | c.274 others(63): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CTNNA2_chr2_79508051_80653780 | 80043095 | CTCTCTCT others(37): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 68 | 0.0147 | -44 | c.105 others(67): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CTNNA2_chr2_79508051_80653780 | 80043111 | CTTTCTTT others(37): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0058others(3): Show | 6 | 68 | 0.0882 | -44 | c.105 others(67): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CTSD_chr11_1747755_1768927 | 1765074 | ATATATGT others(37): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0145 | 6 | 386 | 0.0155 | -44 | c.-12 others(55): Show |
CTSD | ENSG00000117984.15 | transcript | ENST00000236671.7 | protein_coding | 1148 | chr11 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113215845 | CTGTGTGA others(37): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0334 | 1 | 396 | 0.0025 | -44 | c.265 others(61): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |