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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMARCA4_chr19_10956030_11067273 | 11064669 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0003a0001c0004a0001c0008 | a0001c0003t0001a0001c0004t0001a0001c0008t0001 | a0001c0003t0001g0203 a0001c0003t0001g0217 a0001c0003t0001g0258 others(4): Show |
7 | 286 | 0.0245 | 18 | c.*28 others(29): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 2397 | chr19 | TogoVar | |||||||
SMARCAD1_chr4_94202865_94296292 | 94275796 | C | CTTTTATT others(11): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0035 | 1 | 322 | 0.0031 | 18 | c.180 others(35): Show |
SMARCAD1 | ENSG00000163104.18 | transcript | ENST00000354268.9 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMARCB1_chr22_23781966_23843009 | 23799679 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0193 | 1 | 363 | 0.0028 | 18 | c.363 others(35): Show |
SMARCB1 | ENSG00000099956.20 | transcript | ENST00000644036.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMARCC1_chr3_47580269_47786893 | 47600998 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0118 | 1 | 219 | 0.0046 | 18 | c.304 others(37): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47633779 | T | TATACACA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02300.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0009 | a0001c0001t0001g0185 a0005c0006t0009g0079 |
2 | 219 | 0.0091 | 18 | c.264 others(37): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 24/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47671197 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 219 | 0.0046 | 18 | c.184 others(35): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 18/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47747440 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00673.hp1 others(54): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0100 others(54): Show |
57 | 219 | 0.2603 | 18 | c.316 others(35): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47749670 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0182 | 1 | 219 | 0.0046 | 18 | c.316 others(35): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
SMARCC2_chr12_56157359_56194483 | 56167889 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0002g0017 others(2): Show |
6 | 250 | 0.0240 | 18 | c.285 others(35): Show |
SMARCC2 | ENSG00000139613.12 | transcript | ENST00000550164.6 | protein_coding | 26/28 | chr12 | TogoVar | |||||||
SMARCD1_chr12_50080342_50105707 | 50086479 | T | TTGGTGGT others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00642.hp2 others(61): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0003a0005c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(18): Show |
64 | 366 | 0.1749 | 18 | c.365 others(33): Show |
SMARCD1 | ENSG00000066117.15 | transcript | ENST00000394963.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53410926 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(42): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 others(41): Show |
45 | 213 | 0.2113 | 18 | c.125 others(35): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 7/24 | chrX | TogoVar | |||||||
SMC1B_chr22_45339063_45418599 | 45353893 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01255.hp1 HG02602.hp1 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0011 a0002c0001t0002g0077 a0002c0001t0002g0111 others(1): Show |
5 | 360 | 0.0139 | 18 | c.327 others(33): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 21/24 | chr22 | TogoVar | |||||||
SMC2_chr9_104089309_104146419 | 104135210 | C | CAGATGAT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(133): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0122 a0001c0001t0002g0002 a0001c0001t0002g0003 others(83): Show |
136 | 278 | 0.4892 | 18 | c.326 others(35): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMC2_chr9_104089309_104146419 | 104135210 | C | CAGATGAT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006 a0001c0003t0004g0013 a0001c0003t0004g0022 others(18): Show |
29 | 278 | 0.1043 | 18 | c.326 others(35): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMC3_chr10_110562695_110611048 | 110607292 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01496.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009 | a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0002g0177 others(5): Show |
10 | 328 | 0.0305 | 18 | c.*29 others(29): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 1245 | chr10 | TogoVar | |||||||
SMC4_chr3_160394650_160439953 | 160425022 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02074.hp1 HG02129.hp1 others(5): Show |
a0001a0006a0007 | a0001c0001a0006c0007a0007c0009 | a0001c0001t0002a0006c0007t0002a0007c0009t0002 | a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0098 others(5): Show |
8 | 332 | 0.0241 | 18 | c.247 others(33): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMC4_chr3_160394650_160439953 | 160430179 | T | TAAGGAGG others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(168): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0014others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0009 others(118): Show |
171 | 332 | 0.5151 | 18 | c.279 others(35): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17739879 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0240 | 1 | 254 | 0.0039 | 18 | c.239 others(35): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
SMC6_chr2_17658812_17758810 | 17753324 | T | TGGGGACG others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01109.hp2 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(19): Show |
26 | 254 | 0.1024 | 18 | c.-92 others(33): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
SMCHD1_chr18_2650726_2810017 | 2677148 | C | CTTTAGTA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(55): Show |
a0001a0015a0017 | a0001c0002a0001c0004a0015c0022others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(6): Show | a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 others(55): Show |
58 | 340 | 0.1706 | 18 | c.638 others(35): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | chr18 | TogoVar | |||||||
SMCHD1_chr18_2650726_2810017 | 2679480 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02647.hp2 HG02922.hp1 others(4): Show |
a0001a0020 | a0001c0004a0020c0026 | a0001c0004t0002a0020c0026t0048 | a0001c0004t0002g0116 a0001c0004t0002g0119 a0001c0004t0002g0120 others(4): Show |
7 | 340 | 0.0206 | 18 | c.638 others(35): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2684700 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0006a0003c0003others(3): Show | a0001c0004t0002a0001c0004t0005a0001c0004t0012others(7): Show | a0001c0004t0002g0069 a0001c0004t0002g0095 a0001c0004t0002g0116 others(31): Show |
34 | 340 | 0.1000 | 18 | c.639 others(35): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2708867 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03942.hp2 |
a0002 | a0002c0001 | a0002c0001t0021a0002c0001t0029 | a0002c0001t0021g0247 a0002c0001t0029g0338 |
2 | 340 | 0.0059 | 18 | c.226 others(35): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2708907 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 NA18945.hp1 NA19076.hp2 |
a0003a0004a0019 | a0003c0003a0004c0008a0019c0034 | a0003c0003t0006a0004c0008t0011a0019c0034t0006 | a0003c0003t0006g0132 a0004c0008t0011g0221 a0019c0034t0006g0102 |
3 | 340 | 0.0088 | 18 | c.226 others(35): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2708907 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01258.hp1 HG02129.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0001c0007others(5): Show | a0001c0004t0002a0001c0005t0001a0001c0005t0009others(8): Show | a0001c0004t0002g0076 a0001c0004t0002g0135 a0001c0005t0001g0280 others(12): Show |
15 | 340 | 0.0441 | 18 | c.226 others(35): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2748378 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0009a0001c0005t0026 | a0001c0005t0007g0022 a0001c0005t0007g0024 a0001c0005t0009g0244 others(1): Show |
4 | 340 | 0.0118 | 18 | c.392 others(35): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2765996 | G | GTTTTCTT others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02165.hp2 HG03831.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0163 a0001c0002t0003g0175 a0001c0002t0003g0183 |
3 | 340 | 0.0088 | 18 | c.471 others(37): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 37/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2793656 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG01981.hp1 others(4): Show |
a0001a0007 | a0001c0004a0007c0033 | a0001c0004t0002a0001c0004t0005a0001c0004t0012others(1): Show | a0001c0004t0002g0049 a0001c0004t0002g0098 a0001c0004t0005g0078 others(4): Show |
7 | 340 | 0.0206 | 18 | c.572 others(37): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCO2_chr12_27441736_27507185 | 27443421 | G | GAAAAATG others(11): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 360 | 0.0028 | 18 | c.-34 others(29): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 3314 | chr12 | TogoVar | |||||||
SMCO4_chr11_93473472_93548391 | 93484836 | A | AGACAAGG others(11): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 412 | 0.0024 | 18 | c.-80 others(35): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 2/2 | chr11 | TogoVar | |||||||
SMCO4_chr11_93473472_93548391 | 93514413 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG04115.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0322 a0001c0001t0003g0142 |
2 | 412 | 0.0049 | 18 | c.-15 others(39): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
SMCO4_chr11_93473472_93548391 | 93535787 | A | AAGCAGCA others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03130.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0012g0370 |
3 | 412 | 0.0073 | 18 | c.-15 others(37): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18844570 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02572.hp1 others(14): Show |
a0001a0006a0009others(1): Show | a0001c0003a0001c0027a0006c0013others(2): Show | a0001c0003t0001a0001c0003t0013a0001c0027t0001others(3): Show | a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 others(14): Show |
17 | 300 | 0.0567 | 18 | c.621 others(35): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 39/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18844570 | T | TCTCTCAC others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02647.hp1 others(3): Show |
a0001a0012 | a0001c0004a0012c0021 | a0001c0004t0007a0001c0004t0016a0012c0021t0007 | a0001c0004t0007g0006 a0001c0004t0007g0007 a0001c0004t0007g0009 others(3): Show |
6 | 300 | 0.0200 | 18 | c.621 others(35): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 39/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18887516 | C | CTTTGTTT others(11): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02630.hp2 |
a0001 | a0001c0007 | a0001c0007t0003a0001c0007t0028 | a0001c0007t0003g0176 a0001c0007t0028g0219 |
2 | 300 | 0.0067 | 18 | c.823 others(35): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 6/62 | chr16 | TogoVar | |||||||
SMG5_chr1_156244224_156287825 | 156245511 | C | CACTGGAG others(11): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 368 | 0.0027 | 18 | c.*50 others(29): Show |
SMG5 | ENSG00000198952.8 | transcript | ENST00000361813.5 | protein_coding | 3712 | chr1 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2066652 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03491.hp2 NA18948.hp1 NA19079.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0036 a0003c0003t0001g0140 a0003c0003t0001g0146 others(1): Show |
4 | 278 | 0.0144 | 18 | c.383 others(35): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 16/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2130266 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG03209.hp2 others(9): Show |
a0002a0009a0021others(1): Show | a0002c0002a0009c0008a0021c0027others(1): Show | a0002c0002t0001a0002c0002t0002a0009c0008t0003others(3): Show | a0002c0002t0001g0046 a0002c0002t0001g0069 a0002c0002t0001g0070 others(9): Show |
12 | 278 | 0.0432 | 18 | c.335 others(39): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG7_chr1_183467499_183559191 | 183472362 | T | TTCCCCCG others(11): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0234 | 1 | 360 | 0.0028 | 18 | c.-25 others(27): Show |
SMG7 | ENSG00000116698.22 | transcript | ENST00000688051.1 | protein_coding | 136 | chr1 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43724806 | C | CATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 NA20129.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0056 | a0001c0001t0015g0033 a0001c0001t0015g0198 a0001c0001t0056g0109 |
3 | 320 | 0.0094 | 18 | c.*67 others(29): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 3176 | chr19 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43724830 | T | TATATATA others(11): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0010 | 1 | 320 | 0.0031 | 18 | c.*67 others(29): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 3152 | chr19 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43724830 | T | TATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 320 | 0.0031 | 18 | c.*67 others(29): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 3152 | chr19 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43725450 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 320 | 0.0031 | 18 | c.*61 others(29): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 2532 | chr19 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43757302 | A | AGGGCCTG others(11): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0189 | 1 | 320 | 0.0031 | 18 | c.-26 others(29): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 2341 | chr19 | TogoVar | |||||||
SMIM13_chr6_11088834_11143733 | 11090459 | C | CATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG02886.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0030 | a0001c0001t0005g0008 a0001c0001t0005g0028 a0001c0001t0007g0033 others(1): Show |
4 | 400 | 0.0100 | 18 | c.-38 others(29): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 3374 | chr6 | TogoVar | |||||||
SMIM13_chr6_11088834_11143733 | 11123281 | C | CAGTTCAC others(11): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 400 | 0.0025 | 18 | c.77- others(35): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39576658 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0306 | 1 | 344 | 0.0029 | 18 | c.76- others(33): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576660 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01255.hp1 HG02074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0051 others(2): Show |
5 | 344 | 0.0145 | 18 | c.76- others(33): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39576660 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18747.hp1 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 a0001c0001t0002g0148 a0001c0001t0002g0245 others(1): Show |
4 | 344 | 0.0116 | 18 | c.76- others(33): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39584481 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00741.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0203 others(26): Show |
29 | 344 | 0.0843 | 18 | c.76- others(35): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar |