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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMAD2_chr18_47803957_47935659 | 47850817 | T | TATTATAT others(4): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0056a0001c0001t0202a0001c0001t0203others(2): Show | a0001c0001t0056g0242 a0001c0001t0202g0220 a0001c0001t0203g0233 others(2): Show |
5 | 310 | 0.0161 | 11 | c.784 others(26): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47866316 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0244 | a0001c0001t0244g0122 | 1 | 310 | 0.0032 | 11 | c.656 others(28): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47882041 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03453.hp2 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0078a0001c0001t0206others(1): Show | a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0078g0272 others(2): Show |
5 | 310 | 0.0161 | 11 | c.237 others(30): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67112154 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0245 others(36): Show |
39 | 310 | 0.1258 | 11 | c.206 others(30): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67177422 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0150 a0001c0001t0001g0205 a0001c0001t0001g0238 others(17): Show |
20 | 310 | 0.0645 | 11 | c.659 others(28): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67182998 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0282 | 1 | 310 | 0.0032 | 11 | c.871 others(28): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | chr15 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67183000 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0179 | 1 | 310 | 0.0032 | 11 | c.871 others(28): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | chr15 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67183032 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0056 a0001c0001t0008g0064 |
2 | 310 | 0.0065 | 11 | c.871 others(28): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | chr15 | TogoVar | |||||||
SMAD4_chr18_51025213_51090042 | 51062851 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0285 | 1 | 302 | 0.0033 | 11 | c.956 others(28): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD5_chr5_136127845_136187733 | 136183496 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG02451.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0127 a0001c0001t0003g0020 a0001c0001t0003g0057 others(3): Show |
8 | 294 | 0.0272 | 11 | c.*60 others(22): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 764 | chr5 | TogoVar | |||||||
SMAD6_chr15_66697236_66787849 | 66703300 | G | GACCTGAA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp2 | a0011 | a0011c0010 | a0011c0010t0007 | a0011c0010t0007g0275 | 1 | 336 | 0.0030 | 11 | c.42_ others(16): Show |
p.Arg others(4): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 1/4 | 1066/3828 | 43/1491 | 15/496 | chr15 | TogoVar | |||
SMAD6_chr15_66697236_66787849 | 66710593 | G | GTTATTAC others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01952.hp2 others(27): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0019others(5): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0016others(13): Show | a0001c0001t0003g0270 a0001c0001t0007g0266 a0001c0001t0016g0267 others(27): Show |
30 | 336 | 0.0893 | 11 | c.818 others(28): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAGP_chr12_51239558_51275415 | 51252683 | G | GCCCCCCC others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03834.hp1 NA18944.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0025a0001c0002t0005others(2): Show | a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0025g0059 others(5): Show |
8 | 410 | 0.0195 | 11 | c.35- others(26): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMAGP_chr12_51239558_51275415 | 51268586 | T | TCCTCCCT others(4): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 410 | 0.0024 | 11 | c.34+ others(24): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMAP1_chr6_70662883_70867003 | 70725093 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 306 | 0.0033 | 11 | c.119 others(28): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70763106 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 306 | 0.0033 | 11 | c.338 others(28): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2060118 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0016 | 1 | 316 | 0.0032 | 11 | c.152 others(28): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2088879 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG03139.hp1 others(2): Show |
a0001a0003a0006others(1): Show | a0001c0003a0003c0007a0006c0053others(1): Show | a0001c0003t0006a0003c0007t0002a0006c0053t0002others(1): Show | a0001c0003t0006g0143 a0003c0007t0002g0270 a0003c0007t0002g0276 others(2): Show |
5 | 316 | 0.0158 | 11 | c.288 others(28): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 19/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2176182 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02074.hp1 HG02145.hp1 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0161 a0001c0003t0001g0238 a0001c0008t0001g0086 others(5): Show |
8 | 316 | 0.0253 | 11 | c.425 others(30): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 10974690 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03041.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0001 a0001c0009t0001g0002 |
2 | 286 | 0.0070 | 11 | c.-31 others(28): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 1/34 | chr19 | TogoVar | |||||||
SMARCA4_chr19_10956030_11067273 | 11061188 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0007 | 1 | 286 | 0.0035 | 11 | c.491 others(28): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 11061204 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 286 | 0.0035 | 11 | c.491 others(28): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 11064669 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0025 | 1 | 286 | 0.0035 | 11 | c.*28 others(22): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 2397 | chr19 | TogoVar | |||||||
SMARCAD1_chr4_94202865_94296292 | 94235229 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0199 | 1 | 322 | 0.0031 | 11 | c.537 others(28): Show |
SMARCAD1 | ENSG00000163104.18 | transcript | ENST00000354268.9 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMARCAD1_chr4_94202865_94296292 | 94275796 | C | CTTTTATT others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0144 | 1 | 322 | 0.0031 | 11 | c.180 others(28): Show |
SMARCAD1 | ENSG00000163104.18 | transcript | ENST00000354268.9 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMARCAD1_chr4_94202865_94296292 | 94275796 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0199 | 1 | 322 | 0.0031 | 11 | c.180 others(28): Show |
SMARCAD1 | ENSG00000163104.18 | transcript | ENST00000354268.9 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMARCAL1_chr2_216407484_216488053 | 216474128 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0005 | a0001c0001t0001g0142 a0001c0001t0001g0221 a0001c0007t0005g0164 others(1): Show |
4 | 408 | 0.0098 | 11 | c.224 others(30): Show |
SMARCAL1 | ENSG00000138375.14 | transcript | ENST00000357276.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMARCB1_chr22_23781966_23843009 | 23799679 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18747.hp2 NA18942.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0001t0051a0001c0006t0006 | a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 others(3): Show |
6 | 363 | 0.0165 | 11 | c.363 others(28): Show |
SMARCB1 | ENSG00000099956.20 | transcript | ENST00000644036.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMARCB1_chr22_23781966_23843009 | 23830649 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01175.hp2 NA18942.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0001t0041a0001c0006t0006 | a0001c0001t0006g0005 a0001c0001t0006g0312 a0001c0001t0006g0313 others(3): Show |
6 | 363 | 0.0165 | 11 | c.987 others(28): Show |
SMARCB1 | ENSG00000099956.20 | transcript | ENST00000644036.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMARCC1_chr3_47580269_47786893 | 47671173 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 others(6): Show |
9 | 219 | 0.0411 | 11 | c.184 others(28): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 18/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47671196 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01074.hp2 others(14): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0012t0002 | a0001c0001t0001g0130 a0001c0001t0002g0083 a0001c0001t0002g0089 others(14): Show |
17 | 219 | 0.0776 | 11 | c.184 others(28): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 18/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47740178 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 219 | 0.0046 | 11 | c.402 others(28): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 3/27 | chr3 | TogoVar | |||||||
SMARCD1_chr12_50080342_50105707 | 50085289 | C | CGGGCGCT others(4): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
2 | 366 | 0.0055 | 11 | c.-81 others(18): Show |
SMARCD1 | ENSG00000066117.15 | transcript | ENST00000394963.9 | protein_coding | 52 | chr12 | TogoVar | |||||||
SMC1A_chrX_53369149_53427654 | 53402868 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00621.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0002g0149 a0001c0001t0002g0158 a0001c0001t0002g0164 others(20): Show |
23 | 213 | 0.1080 | 11 | c.242 others(28): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 15/24 | chrX | TogoVar | |||||||
SMC1B_chr22_45339063_45418599 | 45397995 | T | TGCTGGCA others(4): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0269 | 1 | 360 | 0.0028 | 11 | c.111 others(30): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 6/24 | chr22 | TogoVar | |||||||
SMC1B_chr22_45339063_45418599 | 45409609 | T | TAAATAAA others(4): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0288 | 1 | 360 | 0.0028 | 11 | c.110 others(26): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 1/24 | chr22 | TogoVar | |||||||
SMC4_chr3_160394650_160439953 | 160409265 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 | 2 | 332 | 0.0060 | 11 | c.688 others(28): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17726087 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02145.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0008a0002c0003t0001 | a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0218 others(8): Show |
11 | 254 | 0.0433 | 11 | c.624 others(26): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | TogoVar | |||||||
SMCHD1_chr18_2650726_2810017 | 2679480 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp2 others(9): Show |
a0003 | a0003c0003a0003c0011 | a0003c0003t0004a0003c0003t0005a0003c0003t0006others(2): Show | a0003c0003t0004g0112 a0003c0003t0005g0082 a0003c0003t0005g0096 others(9): Show |
12 | 340 | 0.0353 | 11 | c.638 others(28): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2702308 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0002c0029others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0002t0001g0176 a0001c0002t0001g0179 a0001c0002t0001g0180 others(48): Show |
51 | 340 | 0.1500 | 11 | c.164 others(30): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 12/47 | chr18 | TogoVar | |||||||
SMCHD1_chr18_2650726_2810017 | 2708907 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0016a0001c0005t0026others(1): Show | a0001c0005t0007g0027 a0001c0005t0016g0032 a0001c0005t0026g0030 others(1): Show |
4 | 340 | 0.0118 | 11 | c.226 others(28): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2708908 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0002a0001c0012 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0181 a0001c0002t0001g0196 a0001c0002t0002g0156 others(2): Show |
5 | 340 | 0.0147 | 11 | c.226 others(28): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | chr18 | TogoVar | |||||||
SMCHD1_chr18_2650726_2810017 | 2759571 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02056.hp1 HG02896.hp2 others(8): Show |
a0002a0006a0018 | a0002c0001a0002c0010a0002c0016others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0032others(4): Show | a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0319 others(8): Show |
11 | 340 | 0.0324 | 11 | c.434 others(30): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 34/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196517104 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0004 | a0004c0004t0012 | a0004c0004t0012g0158 | 1 | 398 | 0.0025 | 11 | c.-18 others(22): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 1759 | chr3 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18849069 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 300 | 0.0033 | 11 | c.562 others(28): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 36/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18887508 | T | TTTTTTCC others(4): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0005 | 1 | 300 | 0.0033 | 11 | c.823 others(28): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 6/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18887516 | C | CTTTGTTT others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG01433.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0033 | a0001c0002t0002g0236 a0001c0002t0002g0246 a0001c0002t0002g0253 others(7): Show |
10 | 300 | 0.0333 | 11 | c.823 others(28): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 6/62 | chr16 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2130266 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00609.hp2 others(44): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0004others(5): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0002others(10): Show | a0002c0002t0001g0030 a0002c0002t0001g0094 a0003c0003t0001g0001 others(44): Show |
47 | 278 | 0.1691 | 11 | c.335 others(32): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2184960 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02083.hp2 NA20752.hp2 |
a0006 | a0006c0005 | a0006c0005t0004a0006c0005t0007a0006c0005t0011 | a0006c0005t0004g0121 a0006c0005t0007g0117 a0006c0005t0011g0122 |
3 | 278 | 0.0108 | 11 | c.315 others(30): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 12/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2222549 | C | CGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 278 | 0.0036 | 11 | c.286 others(32): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 10/18 | chr17 | TogoVar |