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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE4_chr3_131528569_132040014 | 131615889 | TCTCACAC others(31): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01496.hp1 HG01884.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(21): Show |
24 | 85 | 0.2824 | -38 | c.682 others(57): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89590776 | GGGGGCCG others(31): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 346 | 0.0029 | -38 | c.111 others(55): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89590789 | GGGGGGAG others(31): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 345 | 0.0029 | -38 | c.111 others(55): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96717024 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 16 | 0.0625 | -38 | c.-34 others(57): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | NA18522.hp2 NA19030.hp1 NA20300.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0091 a0001c0004t0001g0107 a0001c0004t0001g0114 |
3 | 10 | 0.3000 | -38 | c.849 others(53): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98930288 | GTCCCCAC others(31): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0201 |
2 | 309 | 0.0065 | -38 | c.-11 others(55): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CRACR2A_chr12_3610328_3758109 | 3747904 | TTCCACAG others(31): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 318 | 0.0031 | -38 | c.-38 others(57): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CREB3L1_chr11_46272662_46326409 | 46297471 | GGGGAGGG others(31): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(88): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0032 others(73): Show |
91 | 302 | 0.3013 | -38 | c.103 others(55): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137922400 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp2 |
a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0009 a0001c0004t0031g0055 |
2 | 286 | 0.0070 | -38 | c.319 others(55): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137972730 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG01884.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0020a0001c0004t0067 | a0001c0001t0020g0275 a0001c0004t0067g0285 |
2 | 273 | 0.0073 | -38 | c.102 others(57): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49922256 | TAGTCAGG others(31): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00642.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0005others(4): Show | a0001c0001t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0097 others(16): Show |
36 | 322 | 0.1118 | -38 | c.593 others(53): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49922287 | CCCTCAGC others(31): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 HG01884.hp2 others(29): Show |
a0001a0002 | a0001c0007a0002c0002a0002c0005others(3): Show | a0001c0007t0002a0002c0002t0001a0002c0002t0005others(4): Show | a0001c0007t0002g0129 a0001c0007t0002g0130 a0001c0007t0002g0131 others(19): Show |
32 | 322 | 0.0994 | -38 | c.593 others(53): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105482564 | TCCAAGGT others(31): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0210 | 1 | 314 | 0.0032 | -38 | c.*29 others(49): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 2403 | chr14 | TogoVar | |||||||
CRYBA4_chr22_26616963_26635669 | 26627388 | CTTTCTTT others(31): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0233 |
2 | 399 | 0.0050 | -38 | c.301 others(53): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106361512 | CTTACAGA others(31): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0002 | a0003c0002t0005 | a0003c0002t0005g0005 | 1 | 270 | 0.0037 | -38 | c.173 others(53): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106433735 | ACATATAT others(31): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0207 | 1 | 196 | 0.0051 | -38 | c.174 others(57): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20523755 | AAGCAGAG others(31): Show |
A | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 248 | 0.0040 | -38 | c.41+ others(53): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314231 | ACCTGCCC others(31): Show |
A | downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 156 | 0.0064 | -38 | c.*47 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4297 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314281 | CCACTGCA others(31): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02976.hp2 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0010 a0001c0005t0005g0137 |
2 | 69 | 0.0290 | -38 | c.*48 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4347 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314344 | CGCCTGCC others(31): Show |
C | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 157 | 0.0064 | -38 | c.*48 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4410 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314598 | CCAACCCC others(31): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp2 NA20129.hp2 |
a0002 | a0002c0003a0002c0017 | a0002c0003t0005a0002c0017t0002 | a0002c0003t0005g0147 a0002c0017t0002g0007 |
2 | 157 | 0.0127 | -38 | c.*51 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4664 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314622 | CACACTGA others(31): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0133 | 1 | 157 | 0.0064 | -38 | c.*51 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4688 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314670 | TTGCCCAA others(31): Show |
T | downstream_gene_variant | MODIFIER | HG02897.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0009 | a0001c0001t0012g0004 a0001c0002t0009g0012 |
2 | 132 | 0.0152 | -38 | c.*51 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4736 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314697 | CCCCACTG others(31): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0135 | 1 | 150 | 0.0067 | -38 | c.*52 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4763 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314794 | CCACTGCA others(31): Show |
C | downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 150 | 0.0067 | -38 | c.*53 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4860 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314820 | GCCTGCCC others(31): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 a0001c0001t0003g0149 |
2 | 146 | 0.0137 | -38 | c.*53 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4886 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314864 | CCAACCGC others(31): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG01169.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0122 a0001c0001t0003g0090 a0001c0001t0003g0114 others(10): Show |
13 | 157 | 0.0828 | -38 | c.*53 others(49): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4930 | chrX | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666777 | AAGAAAGA others(31): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0007a0001c0007t0039 | a0001c0001t0001g0040 a0001c0002t0007g0037 a0001c0007t0039g0041 |
3 | 227 | 0.0132 | -38 | c.-39 others(59): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666781 | AAGAAAGA others(31): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 224 | 0.0045 | -38 | c.-39 others(59): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666789 | AAGAAAGA others(31): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0093 | 1 | 223 | 0.0045 | -38 | c.-39 others(59): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666793 | AAGAAAGA others(31): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137 a0001c0001t0002g0217 |
2 | 193 | 0.0104 | -38 | c.-39 others(59): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3660480 | CTTTTTTT others(31): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01934.hp2 HG02257.hp1 others(8): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0090a0002c0048others(7): Show | a0001c0001t0002a0001c0090t0001a0002c0048t0011others(7): Show | a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0090t0001g0027 others(8): Show |
11 | 40 | 0.2750 | -38 | c.101 others(59): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3772524 | CACATATA others(31): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02965.hp2 |
a0005a0008a0025 | a0005c0064a0008c0088a0025c0066 | a0005c0064t0050a0008c0088t0076a0025c0066t0010 | a0005c0064t0050g0078 a0008c0088t0076g0057 a0025c0066t0010g0032 |
3 | 114 | 0.0263 | -38 | c.819 others(57): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795288 | TCATGTAC others(31): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0115 | a0001c0115t0042 | a0001c0115t0042g0055 | 1 | 120 | 0.0083 | -38 | c.819 others(57): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795364 | TATATAGA others(31): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(10): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0019a0001c0043others(10): Show | a0001c0001t0038a0001c0019t0078a0001c0043t0031others(10): Show | a0001c0001t0038g0017 a0001c0019t0078g0105 a0001c0043t0031g0044 others(10): Show |
13 | 94 | 0.1383 | -38 | c.819 others(57): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4565749 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0013 | a0013c0018 | a0013c0018t0058 | a0013c0018t0058g0068 | 1 | 13 | 0.0769 | -38 | c.302 others(57): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4920894 | AAGAAAAG others(31): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0114 | a0001c0114t0003 | a0001c0114t0003g0119 | 1 | 126 | 0.0079 | -38 | c.85+ others(55): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 33989013 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01071.hp1 others(9): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0047a0003c0037others(9): Show | a0001c0001t0001a0001c0047t0001a0003c0037t0007others(9): Show | a0001c0001t0001g0062 a0001c0047t0001g0031 a0003c0037t0007g0038 others(9): Show |
12 | 17 | 0.7059 | -38 | c.517 others(57): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | |||||||
CSMD2_chr1_33508998_34170230 | 34102611 | GATCCAAC others(31): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 HG02809.hp2 others(6): Show |
a0002a0003a0004others(6): Show | a0002c0027a0003c0048a0004c0031others(6): Show | a0002c0027t0003a0003c0048t0006a0004c0031t0004others(6): Show | a0002c0027t0003g0045 a0003c0048t0006g0032 a0004c0031t0004g0005 others(6): Show |
9 | 64 | 0.1406 | -38 | c.188 others(57): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542602 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01496.hp1 HG01934.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008 | a0001c0001t0003g0224 a0001c0001t0003g0323 a0001c0001t0004g0234 others(5): Show |
8 | 387 | 0.0207 | -38 | c.230 others(55): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542634 | ATATATGT others(31): Show |
A | intron_variant | MODIFIER | HG04204.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0111 |
2 | 382 | 0.0052 | -38 | c.230 others(55): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542658 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0041 | 1 | 376 | 0.0027 | -38 | c.230 others(55): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1G2_chr19_1936172_1986338 | 1959755 | GTGGGTCC others(31): Show |
G | intron_variant | MODIFIER | HG02055.hp2 NA18971.hp2 NA20129.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0056 |
3 | 378 | 0.0079 | -38 | c.-26 others(57): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CSNK2B_chr6_31661080_31675067 | 31669754 | GTGGGGAG others(31): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 420 | 0.0024 | -38 | c.558 others(51): Show |
CSNK2B | ENSG00000204435.15 | transcript | ENST00000375882.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CST6_chr11_66007008_66018505 | 66018395 | ACCTCCAG others(31): Show |
A | downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 412 | 0.0024 | -38 | c.*49 others(49): Show |
CST6 | ENSG00000175315.3 | transcript | ENST00000312134.3 | protein_coding | 4891 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163899 | ATATATAT others(31): Show |
A | upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0128 | 1 | 321 | 0.0031 | -38 | c.-26 others(49): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2420 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163901 | ATATATAT others(31): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01167.hp2 NA18940.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0158 a0001c0001t0003g0007 a0001c0001t0003g0120 others(3): Show |
6 | 304 | 0.0197 | -38 | c.-26 others(49): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2422 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163903 | ATATATAT others(31): Show |
A | upstream_gene_variant | MODIFIER | NA18944.hp2 NA18966.hp2 NA18979.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0003g0141 others(1): Show |
4 | 335 | 0.0119 | -38 | c.-26 others(49): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2424 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163905 | ATATATAT others(31): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01884.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0108 a0001c0003t0002g0014 a0001c0003t0002g0026 |
4 | 350 | 0.0114 | -38 | c.-26 others(49): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2426 | chr11 | TogoVar | |||||||
CT47C1_chrX_119067993_119081765 | 119074981 | AAAAGTGG others(31): Show |
A | frameshift_variant | HIGH | NA18957.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0001 | 1 | 308 | 0.0032 | -38 | c.878 others(45): Show |
p.Lys others(5): Show |
CT47C1 | ENSG00000277535.4 | transcript | ENST00000620151.4 | protein_coding | 2/3 | 1111/1772 | 878/975 | 293/324 | INFO_REALIGN_3_PRIME | chrX | TogoVar |