| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| THEG_chr19_356747_381026 | 376931 | G | GCCCCCAC others(414): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 333 | 0.0030 | 421 | c.-96 others(430): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 906 | chr19 | TogoVar | |||||||
| THEG_chr19_356747_381026 | 377417 | C | CTCTGTAC others(414): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0003 | a0003c0018 | a0003c0018t0001 | a0003c0018t0001g0252 | 1 | 139 | 0.0072 | 421 | c.-14 others(432): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1392 | chr19 | TogoVar | |||||||
| TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(414): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 149 | 0.0067 | 421 | c.102 others(440): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
| TP53AIP1_chr11_128930370_128947871 | 128930772 | A | AGGGTAGG others(414): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0082 | 1 | 114 | 0.0088 | 421 | c.*48 others(432): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4597 | chr11 | TogoVar | |||||||
| TP73_chr1_3647516_3741201 | 3694003 | C | CGCAATCC others(414): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0026 | 1 | 352 | 0.0028 | 421 | c.186 others(440): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TP73_chr1_3647516_3741201 | 3694121 | A | ATGCAGCC others(414): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0008 | a0002c0008t0019 | a0002c0008t0019g0196 | 1 | 293 | 0.0034 | 421 | c.186 others(440): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TRIM49D1_chr11_89906409_89927245 | 89909246 | A | ATTTTATG others(414): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 HG03453.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 a0002c0002t0001g0056 |
2 | 153 | 0.0131 | 421 | c.*23 others(432): Show |
TRIM49D1 | ENSG00000223417.9 | transcript | ENST00000420869.3 | protein_coding | 2162 | chr11 | TogoVar | |||||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(414): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0126 | 1 | 8 | 0.1250 | 421 | c.657 others(436): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| UCN3_chr10_5359966_5379692 | 5370750 | G | GTGTGTGT others(414): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0354 | 1 | 434 | 0.0023 | 421 | c.-6- others(436): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
| UMAD1_chr7_7635752_7884223 | 7678876 | T | TATAAATA others(414): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0214 | 1 | 225 | 0.0044 | 421 | c.82+ others(436): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| UMAD1_chr7_7635752_7884223 | 7679038 | T | TATAAATA others(414): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0215 | 1 | 159 | 0.0063 | 421 | c.82+ others(436): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 598870 | G | GGGGGGGG others(414): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0007 | a0001c0007t0024 | a0001c0007t0024g0109 | 1 | 228 | 0.0044 | 421 | c.121 others(440): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | |||||||
| VPS53_chr17_503668_719839 | 598870 | G | GGGGGGGG others(414): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0220 | 1 | 228 | 0.0044 | 421 | c.121 others(440): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | |||||||
| VPS53_chr17_503668_719839 | 598880 | G | GCCCCCCA others(414): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0144 | 1 | 156 | 0.0064 | 421 | c.121 others(440): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | |||||||
| VPS53_chr17_503668_719839 | 598880 | G | GCCCCCCA others(414): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0122 | 1 | 156 | 0.0064 | 421 | c.121 others(440): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370977 | T | TCATATGT others(414): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0023 | 1 | 328 | 0.0030 | 421 | c.-34 others(432): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3391 | chr10 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62371316 | A | ATATCATA others(414): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 336 | 0.0030 | 421 | c.-31 others(432): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3052 | chr10 | TogoVar | |||||||
| ZNF500_chr16_4743239_4772162 | 4759639 | T | TTCAAGCG others(414): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0227 | 1 | 410 | 0.0024 | 421 | c.760 others(436): Show |
ZNF500 | ENSG00000103199.14 | transcript | ENST00000219478.11 | protein_coding | 5/5 | chr16 | TogoVar | |||||||
| ZNF543_chr19_57315472_57335770 | 57327475 | G | GCTGGGAT others(414): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 176 | 0.0057 | 421 | c.242 others(436): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(415): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0010 | a0002c0010t0009 | a0002c0010t0009g0255 | 1 | 200 | 0.0050 | 422 | c.535 others(439): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
| ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(415): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0230 | 1 | 200 | 0.0050 | 422 | c.535 others(439): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
| ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(415): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp2 NA19240.hp2 others(1): Show |
a0002a0003a0012others(1): Show | a0002c0110a0003c0012a0012c0037others(1): Show | a0002c0110t0002a0003c0012t0001a0012c0037t0001others(1): Show | a0002c0110t0002g0205 a0003c0012t0001g0058 a0012c0037t0001g0046 others(1): Show |
4 | 203 | 0.0197 | 422 | c.535 others(439): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
| ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(415): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG02970.hp1 |
a0001a0008a0012 | a0001c0074a0008c0053a0012c0080 | a0001c0074t0004a0008c0053t0007a0012c0080t0012 | a0001c0074t0004g0061 a0008c0053t0007g0147 a0012c0080t0012g0192 |
3 | 202 | 0.0149 | 422 | c.535 others(439): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
| ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(415): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0028 | a0003c0028t0004 | a0003c0028t0004g0119 | 1 | 200 | 0.0050 | 422 | c.535 others(439): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
| ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(415): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0012 | a0003c0012t0007 | a0003c0012t0007g0120 | 1 | 200 | 0.0050 | 422 | c.535 others(439): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
| ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(415): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0078 | 1 | 200 | 0.0050 | 422 | c.535 others(439): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
| ADAMTS2_chr5_179105853_179350461 | 179277979 | C | CCTCCGAG others(415): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0072 | 1 | 262 | 0.0038 | 422 | c.535 others(439): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
| AFF2_chrX_148495617_149005663 | 148581415 | T | TACACGTA others(415): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 63 | 0.0159 | 422 | c.48- others(439): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ALK_chr2_29187774_29926586 | 29831028 | A | AGGAGGAG others(415): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0051 | 1 | 46 | 0.0217 | 422 | c.667 others(441): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
| AMPH_chr7_38378704_38636373 | 38570972 | T | TATATATT others(415): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 150 | 0.0067 | 422 | c.70- others(439): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132759526 | C | CTATATGT others(415): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0234 | 1 | 316 | 0.0032 | 422 | c.181 others(439): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687013 | C | CCCCGTGA others(415): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 235 | 0.0043 | 422 | c.-14 others(433): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1168 | chr8 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687156 | C | CCCCGTGA others(415): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 226 | 0.0044 | 422 | c.-15 others(433): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1311 | chr8 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(415): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 146 | 0.0068 | 422 | c.-18 others(433): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1825069 | C | CCCCGCAC others(415): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0070 | a0001c0070t0001 | a0001c0070t0001g0165 | 1 | 360 | 0.0028 | 422 | c.-48 others(437): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ASH1L_chr1_155330268_155567803 | 155444916 | C | CTTGTTTG others(415): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0167 | 1 | 169 | 0.0059 | 422 | c.508 others(441): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
| BCL2L1_chr20_31659458_31727868 | 31689270 | G | GGGAAGGG others(415): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0174 |
2 | 5 | 0.4000 | 422 | c.565 others(441): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
| CAPN15_chr16_522712_559636 | 544791 | T | TCGCCTCC others(415): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0170 | 1 | 391 | 0.0026 | 422 | c.-22 others(439): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293482 | T | TCACCTTC others(415): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0018 | a0018c0033 | a0018c0033t0007 | a0018c0033t0007g0004 | 1 | 253 | 0.0040 | 422 | c.411 others(439): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
| CCDC88C_chr14_91266323_91422820 | 91293482 | T | TCACCTTC others(415): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03516.hp2 |
a0001 | a0001c0007a0001c0036 | a0001c0007t0005a0001c0036t0005 | a0001c0007t0005g0242 a0001c0036t0005g0099 |
2 | 254 | 0.0079 | 422 | c.411 others(439): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
| CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(415): Show |
intron_variant | MODIFIER | HG03516.hp1 NA20129.hp1 |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0007a0006c0012t0001 | a0001c0001t0007g0002 a0006c0012t0001g0247 |
2 | 206 | 0.0097 | 422 | c.411 others(439): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(415): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 12 | 0.0833 | 422 | c.-45 others(443): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(415): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 12 | 0.0833 | 422 | c.-45 others(443): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CDH8_chr16_61642250_62041438 | 61960376 | C | CATATATG others(415): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0032 | 1 | 139 | 0.0072 | 422 | c.253 others(441): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
| CLPTM1L_chr5_1312752_1350099 | 1333222 | C | CAGATGAA others(415): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 276 | 0.0036 | 422 | c.891 others(439): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
| CNOT1_chr16_58514951_58634826 | 58586394 | C | CAGGGGGA others(415): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01258.hp1 HG01433.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0250 others(10): Show |
13 | 201 | 0.0647 | 422 | c.637 others(437): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | |||||||
| CNOT1_chr16_58514951_58634826 | 58586397 | G | GGGGAGGG others(415): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0183 | 1 | 263 | 0.0038 | 422 | c.637 others(437): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | |||||||
| CNST_chr1_246561456_246673595 | 246576200 | A | ACTCAAGC others(415): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 31 | 0.0323 | 422 | c.-52 others(439): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CNST_chr1_246561456_246673595 | 246576200 | A | ACTCCAGC others(415): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01070.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0003 a0001c0001t0002g0101 a0001c0001t0002g0102 others(2): Show |
6 | 36 | 0.1667 | 422 | c.-52 others(439): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3411987 | T | TATGCACC others(415): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0018 | a0018c0042 | a0018c0042t0004 | a0018c0042t0004g0004 | 1 | 108 | 0.0093 | 422 | c.156 others(441): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar |