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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD1_chr8_2930361_4999914 | 3893339 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG01934.hp1 others(10): Show |
a0001a0002a0012others(6): Show | a0001c0003a0001c0006a0001c0019others(10): Show | a0001c0003t0019a0001c0006t0060a0001c0019t0078others(10): Show | a0001c0003t0019g0107 a0001c0006t0060g0103 a0001c0019t0078g0105 others(10): Show |
13 | 21 | 0.6190 | 28 | c.818 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3893339 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0021 | 1 | 9 | 0.1111 | 28 | c.818 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4077294 | T | TGTATATA others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 |
a0002a0016 | a0002c0022a0016c0028 | a0002c0022t0035a0016c0028t0024 | a0002c0022t0035g0048 a0016c0028t0024g0040 |
2 | 126 | 0.0159 | 28 | c.416 others(47): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4135375 | T | TGGGAAAG others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0009 | a0009c0097 | a0009c0097t0017 | a0009c0097t0017g0089 | 1 | 120 | 0.0083 | 28 | c.416 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258377 | A | AGGAGGGA others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01255.hp2 others(2): Show |
a0001a0017a0028 | a0001c0005a0001c0049a0001c0073others(2): Show | a0001c0005t0006a0001c0049t0002a0001c0073t0006others(2): Show | a0001c0005t0006g0070 a0001c0049t0002g0071 a0001c0073t0006g0108 others(2): Show |
5 | 94 | 0.0532 | 28 | c.415 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4312421 | G | GCGCGTAT others(21): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG03540.hp1 |
a0002a0008a0019 | a0002c0015a0008c0029a0019c0082 | a0002c0015t0021a0008c0029t0013a0019c0082t0051 | a0002c0015t0021g0008 a0008c0029t0013g0054 a0019c0082t0051g0097 |
3 | 99 | 0.0303 | 28 | c.415 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4312436 | T | TATGCGTA others(21): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0111 | a0001c0111t0045 | a0001c0111t0045g0063 | 1 | 96 | 0.0104 | 28 | c.415 others(49): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4446751 | G | GTGTGTCT others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0086 | 1 | 125 | 0.0080 | 28 | c.303 others(47): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4578332 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19240.hp2 |
a0001 | a0001c0026a0001c0045 | a0001c0026t0007a0001c0045t0014 | a0001c0026t0007g0093 a0001c0045t0014g0010 |
2 | 24 | 0.0833 | 28 | c.302 others(47): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4717310 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02280.hp2 HG02965.hp1 others(1): Show |
a0004a0005a0024others(1): Show | a0004c0034a0005c0107a0024c0052others(1): Show | a0004c0034t0029a0005c0107t0066a0024c0052t0049others(1): Show | a0004c0034t0029g0038 a0005c0107t0066g0073 a0024c0052t0049g0098 others(1): Show |
4 | 63 | 0.0635 | 28 | c.86- others(45): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4764905 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0064 | a0005c0064t0050 | a0005c0064t0050g0078 | 1 | 125 | 0.0080 | 28 | c.86- others(47): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33567478 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03453.hp2 |
a0008a0017 | a0008c0024a0017c0017 | a0008c0024t0002a0017c0017t0016 | a0008c0024t0002g0057 a0017c0017t0016g0066 |
2 | 53 | 0.0377 | 28 | c.838 others(45): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 53/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34076928 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0023 | a0023c0030 | a0023c0030t0003 | a0023c0030t0003g0021 | 1 | 38 | 0.0263 | 28 | c.404 others(47): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112342970 | A | ATTATATA others(21): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03516.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0002 a0001c0001t0004g0015 a0001c0001t0004g0018 others(1): Show |
4 | 76 | 0.0526 | 28 | c.644 others(47): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 41/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112405222 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 74 | 0.0135 | 28 | c.580 others(47): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 35/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112410585 | C | CATATGTA others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0016a0002c0003 | a0001c0001t0003a0001c0001t0007a0001c0016t0001others(1): Show | a0001c0001t0003g0023 a0001c0001t0003g0044 a0001c0001t0007g0041 others(2): Show |
5 | 78 | 0.0641 | 28 | c.539 others(47): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 112410624 | A | ATATGTGT others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 NA19063.hp2 |
a0001a0005 | a0001c0006a0005c0008 | a0001c0006t0003a0005c0008t0005 | a0001c0006t0003g0054 a0005c0008t0005g0004 a0005c0008t0005g0005 |
3 | 61 | 0.0492 | 28 | c.539 others(47): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | |||||||
CSMD3_chr8_112217928_113441939 | 113153130 | A | AGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0016 | a0016c0014 | a0016c0014t0005 | a0016c0014t0005g0040 | 1 | 22 | 0.0455 | 28 | c.709 others(47): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542618 | A | ATATGTGT others(21): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0364 | 1 | 375 | 0.0027 | 28 | c.230 others(45): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542630 | A | ACATGTAT others(21): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0348 | 1 | 383 | 0.0026 | 28 | c.230 others(45): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542654 | A | ATATATGT others(21): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0367 | 1 | 354 | 0.0028 | 28 | c.230 others(45): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149544737 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0221 others(1): Show |
4 | 110 | 0.0364 | 28 | c.230 others(45): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149544758 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 281 | 0.0036 | 28 | c.230 others(45): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1E_chr22_38285691_38322433 | 38290472 | C | CGCGTGGC others(21): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02809.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0002g0163 a0001c0001t0006g0035 a0001c0001t0006g0248 others(2): Show |
7 | 345 | 0.0203 | 28 | c.*14 others(39): Show |
CSNK1E | ENSG00000213923.13 | transcript | ENST00000396832.6 | protein_coding | 218 | chr22 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64238518 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0135 | 1 | 47 | 0.0213 | 28 | c.292 others(47): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 4/11 | chr15 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64238518 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 a0001c0001t0007g0113 |
2 | 48 | 0.0417 | 28 | c.292 others(47): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 4/11 | chr15 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64238518 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0146 a0001c0001t0015g0150 |
2 | 48 | 0.0417 | 28 | c.292 others(47): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 4/11 | chr15 | TogoVar | |||||||
CSNK1G1_chr15_64160525_64361173 | 64343208 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG01167.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0061 others(20): Show |
23 | 44 | 0.5227 | 28 | c.-22 others(49): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
CSNK2A1_chr20_467498_548790 | 485109 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 127 | 0.0079 | 28 | c.106 others(47): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
CSNK2A2_chr16_58152907_58203106 | 58171958 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0240 |
2 | 270 | 0.0074 | 28 | c.429 others(45): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CSNK2A2_chr16_58152907_58203106 | 58171979 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0266 |
2 | 254 | 0.0079 | 28 | c.429 others(45): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CSNKA2IP_chr3_88333456_88472594 | 88449870 | T | TAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 266 | 0.0038 | 28 | c.-27 others(49): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88470698 | G | GTGTATAT others(21): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 339 | 0.0029 | 28 | c.*31 others(39): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 3105 | chr3 | TogoVar | |||||||
CSPP1_chr8_67059392_67201614 | 67083548 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0031 | 1 | 87 | 0.0115 | 28 | c.200 others(45): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67159956 | T | TTTCTTTT others(21): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 115 | 0.0087 | 28 | c.253 others(45): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | chr8 | TogoVar | |||||||
CSRNP2_chr12_51056205_51088596 | 51067168 | A | ACAGTATT others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02698.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 2 | 418 | 0.0048 | 28 | c.708 others(43): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 4/4 | chr12 | TogoVar | |||||||
CSRNP3_chr2_165464698_165694407 | 165466966 | C | CATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01074.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0007g0073 a0001c0002t0001g0074 a0001c0002t0002g0072 others(4): Show |
7 | 134 | 0.0522 | 28 | c.-30 others(39): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 2731 | chr2 | TogoVar | |||||||
CSRNP3_chr2_165464698_165694407 | 165666619 | A | AGAGGAAG others(21): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0056 | 1 | 104 | 0.0096 | 28 | c.408 others(45): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
CSRP3_chr11_19177030_19206983 | 19197501 | C | CTCTTTCG others(21): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 2 | 117 | 0.0171 | 28 | c.-29 others(45): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CSRP3_chr11_19177030_19206983 | 19197501 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG01517.hp1 NA19005.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0132 a0001c0001t0001g0148 |
3 | 118 | 0.0254 | 28 | c.-29 others(45): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CST8_chr20_23486117_23501010 | 23490041 | T | TTTATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02080.hp2 HG02132.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
15 | 381 | 0.0394 | 28 | c.-14 others(39): Show |
CST8 | ENSG00000125815.9 | transcript | ENST00000246012.2 | protein_coding | 1075 | chr20 | TogoVar | |||||||
CST8_chr20_23486117_23501010 | 23490238 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 375 | 0.0027 | 28 | c.-12 others(39): Show |
CST8 | ENSG00000125815.9 | transcript | ENST00000246012.2 | protein_coding | 878 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23560913 | C | CTCTCTCT others(21): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 341 | 0.0029 | 28 | c.*40 others(39): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3818 | chr20 | TogoVar | |||||||
CST9L_chr20_23559732_23573484 | 23561084 | C | CTTCTTTC others(21): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 222 | 0.0045 | 28 | c.*38 others(39): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 3647 | chr20 | TogoVar | |||||||
CSTA_chr3_122320248_122346969 | 122333540 | G | GAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01943.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 2 | 123 | 0.0163 | 28 | c.67- others(43): Show |
CSTA | ENSG00000121552.4 | transcript | ENST00000264474.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSTF1_chr20_56387645_56411362 | 56404812 | A | ATTTTTTT others(21): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0093 | 1 | 31 | 0.0323 | 28 | c.*11 others(39): Show |
CSTF1 | ENSG00000101138.12 | transcript | ENST00000217109.9 | protein_coding | 6/6 | 1112 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CT45A1_chrX_135708639_135728228 | 135715335 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0004 a0002c0002t0002g0003 a0002c0002t0002g0006 others(6): Show |
13 | 55 | 0.2364 | 28 | c.-7+ others(43): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CT45A3_chrX_135755044_135773191 | 135759370 | A | ATATATAT others(21): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 152 | 0.0066 | 28 | c.*98 others(37): Show |
CT45A3 | ENSG00000269096.7 | transcript | ENST00000598716.3 | protein_coding | 673 | chrX | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79745959 | G | GCCTGCGT others(21): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18967.hp2 NA19090.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0300 a0004c0004t0001g0305 a0004c0004t0001g0306 |
3 | 230 | 0.0130 | 28 | c.274 others(47): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79746015 | G | GCCTGCGT others(21): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01952.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0001 | a0001c0001t0002g0144 a0004c0004t0001g0309 a0004c0004t0001g0317 others(6): Show |
9 | 229 | 0.0393 | 28 | c.274 others(47): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |