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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SASH1_chr6_148337838_148557044 | 148341318 | TTTTTTTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02257.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0005 | a0001c0001t0005g0315 a0001c0003t0005g0314 |
2 | 322 | 0.0062 | -12 | c.-17 others(23): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1519 | chr6 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148349241 | CTTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG03491.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0092 a0001c0003t0001g0054 |
2 | 322 | 0.0062 | -12 | c.156 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148377172 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp2 others(94): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(43): Show | a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0166 others(94): Show |
97 | 322 | 0.3012 | -12 | c.157 others(31): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148381617 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00609.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0029others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0046 others(33): Show |
36 | 322 | 0.1118 | -12 | c.157 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148387566 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01433.hp1 HG01981.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0030others(6): Show | a0001c0001t0002g0205 a0001c0001t0006g0300 a0001c0001t0030g0040 others(6): Show |
9 | 322 | 0.0280 | -12 | c.157 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148399214 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 322 | 0.0031 | -12 | c.285 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148421126 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0303 | 1 | 322 | 0.0031 | -12 | c.286 others(31): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148421142 | GAAGGAAG others(5): Show |
G | intron_variant | MODIFIER | HG01943.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0157 a0001c0001t0013g0182 |
2 | 322 | 0.0062 | -12 | c.286 others(31): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148421146 | GAAGAAAG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG03579.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0294 a0001c0001t0002g0251 a0001c0001t0013g0131 others(2): Show |
5 | 322 | 0.0155 | -12 | c.286 others(31): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148434063 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp2 HG02818.hp1 others(5): Show |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0012 | a0001c0001t0005a0001c0001t0027a0002c0004t0008others(1): Show | a0001c0001t0005g0098 a0001c0001t0005g0247 a0001c0001t0005g0256 others(5): Show |
8 | 322 | 0.0248 | -12 | c.286 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148446088 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01175.hp2 HG02027.hp2 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0026others(8): Show | a0001c0001t0001g0101 a0001c0001t0001g0156 a0001c0001t0006g0181 others(10): Show |
13 | 322 | 0.0404 | -12 | c.386 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148458983 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03471.hp2 HG03540.hp1 NA18983.hp1 |
a0002a0007 | a0002c0004a0002c0005a0007c0038 | a0002c0004t0015a0002c0005t0001a0007c0038t0016 | a0002c0004t0015g0293 a0002c0005t0001g0028 a0007c0038t0016g0265 |
3 | 322 | 0.0093 | -12 | c.387 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148486936 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG02056.hp1 others(12): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0002g0172 others(12): Show |
15 | 322 | 0.0466 | -12 | c.628 others(27): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148489850 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 322 | 0.0031 | -12 | c.729 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148492827 | TATAAATA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0001a0001c0013t0001a0001c0013t0002others(8): Show | a0001c0001t0001g0011 a0001c0001t0001g0166 a0001c0001t0001g0198 others(17): Show |
20 | 322 | 0.0621 | -12 | c.729 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148511324 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0320 | 1 | 322 | 0.0031 | -12 | c.730 others(29): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148537776 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01074.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0029others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(17): Show | a0001c0001t0001g0107 a0001c0001t0002g0023 a0001c0001t0002g0053 others(32): Show |
35 | 322 | 0.1087 | -12 | c.209 others(31): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH3_chrX_129774949_129800201 | 129775931 | AAATTAAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(162): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0007a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(131): Show |
165 | 307 | 0.5375 | -12 | c.-41 others(23): Show |
SASH3 | ENSG00000122122.10 | transcript | ENST00000356892.4 | protein_coding | 4017 | chrX | TogoVar | |||||||
SAT1_chrX_23778173_23791210 | 23781874 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(9): Show |
28 | 330 | 0.0849 | -12 | c.-14 others(23): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 1298 | chrX | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18370564 | AAGAAAAG others(5): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0032a0001c0001t0057others(2): Show | a0001c0001t0023g0307 a0001c0001t0032g0283 a0001c0001t0032g0284 others(4): Show |
7 | 352 | 0.0199 | -12 | c.157 others(31): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SATB1_chr3_18340377_18430339 | 18392564 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG02602.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0032a0001c0001t0057others(4): Show | a0001c0001t0023g0307 a0001c0001t0032g0283 a0001c0001t0032g0284 others(6): Show |
9 | 352 | 0.0256 | -12 | c.120 others(31): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 7/10 | chr3 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199355340 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | NA18961.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 a0001c0001t0002g0194 |
2 | 254 | 0.0079 | -12 | c.701 others(29): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 6/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199355342 | GTGTATCT others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02630.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(3): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0053 others(10): Show |
13 | 254 | 0.0512 | -12 | c.701 others(29): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 6/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386689 | TGCGCAAG others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 254 | 0.0039 | -12 | c.347 others(29): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386694 | AAGCGCGC others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG01975.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0002g0045 a0001c0001t0002g0119 a0001c0001t0002g0120 others(5): Show |
8 | 254 | 0.0315 | -12 | c.347 others(29): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386708 | GCGCGCGC others(5): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0080 a0001c0001t0017g0078 |
2 | 254 | 0.0079 | -12 | c.347 others(29): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386710 | GCGCGCGC others(5): Show |
G | intron_variant | MODIFIER | HG01952.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0211 a0001c0001t0003g0236 |
2 | 254 | 0.0079 | -12 | c.347 others(29): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386714 | GCGCACAC others(5): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 254 | 0.0039 | -12 | c.347 others(29): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386716 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 254 | 0.0039 | -12 | c.347 others(29): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199417036 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01167.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0169 others(9): Show |
12 | 254 | 0.0472 | -12 | c.346 others(31): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088316 | GTTTTTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0226 | 1 | 232 | 0.0043 | -12 | c.*40 others(23): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 3967 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85156813 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp1 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0002c0002t0003a0004c0004t0002 | a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0041 others(6): Show |
9 | 232 | 0.0388 | -12 | c.-31 others(33): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85166941 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 NA18981.hp1 NA19056.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0119 others(2): Show |
5 | 232 | 0.0216 | -12 | c.-31 others(33): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85220644 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG02486.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0003others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0082 others(6): Show |
9 | 232 | 0.0388 | -12 | c.-31 others(31): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85244136 | GGCGGCGG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01891.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0003a0004c0004t0002others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0146 others(8): Show |
11 | 232 | 0.0474 | -12 | c.-99 others(21): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 358 | chrX | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18938821 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 364 | 0.0028 | -12 | c.421 others(29): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18977993 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG03098.hp2 others(3): Show |
a0002a0003a0010 | a0002c0002a0003c0003a0010c0010 | a0002c0002t0004a0003c0003t0001a0003c0003t0006others(1): Show | a0002c0002t0004g0087 a0003c0003t0001g0344 a0003c0003t0006g0135 others(3): Show |
6 | 364 | 0.0165 | -12 | c.39- others(29): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 18984030 | ATATTCAT others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02723.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0025a0003c0003t0011others(4): Show | a0001c0001t0001g0345 a0002c0002t0025g0013 a0003c0003t0011g0165 others(6): Show |
9 | 364 | 0.0247 | -12 | c.39- others(29): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SAXO1_chr9_18922650_19038209 | 19024012 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0022 | a0022c0019 | a0022c0019t0005 | a0022c0019t0005g0197 | 1 | 364 | 0.0028 | -12 | c.38+ others(27): Show |
SAXO1 | ENSG00000155875.15 | transcript | ENST00000380534.9 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50451037 | TCATTAGA others(5): Show |
T | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0016 | 1 | 402 | 0.0025 | -12 | c.504 others(31): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 36/40 | chr22 | TogoVar | |||||||
SBF1_chr22_50440000_50480035 | 50455293 | AGCTCCAC others(5): Show |
A | disruptive_inframe_deletion | MODERATE | NA18990.hp2 | a0023 | a0023c0036 | a0023c0036t0006 | a0023c0036t0006g0199 | 1 | 402 | 0.0025 | -12 | c.447 others(21): Show |
p.His others(15): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 33/41 | 4679/8019 | 4473/5682 | 1491/1893 | chr22 | TogoVar | |||
SBF1_chr22_50440000_50480035 | 50474965 | CGCGGCGG others(5): Show |
C | 5_prime_UTR_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0003 | a0001c0003t0179 | a0001c0003t0179g0388 | 1 | 402 | 0.0025 | -12 | c.-13 others(21): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 1/41 | 126 | chr22 | TogoVar | ||||||
SBF1_chr22_50440000_50480035 | 50478517 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02109.hp1 others(27): Show |
a0001a0009a0020 | a0001c0008a0001c0010a0001c0014others(6): Show | a0001c0008t0020a0001c0008t0036a0001c0008t0167others(17): Show | a0001c0008t0020g0011 a0001c0008t0020g0382 a0001c0008t0020g0383 others(26): Show |
30 | 402 | 0.0746 | -12 | c.-36 others(23): Show |
SBF1 | ENSG00000100241.22 | transcript | ENST00000380817.8 | protein_coding | 3483 | chr22 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9792931 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02145.hp2 others(5): Show |
a0001a0006 | a0001c0001a0001c0005a0006c0009 | a0001c0001t0001a0001c0005t0001a0006c0009t0001 | a0001c0001t0001g0179 a0001c0005t0001g0195 a0001c0005t0001g0201 others(5): Show |
8 | 224 | 0.0357 | -12 | c.457 others(31): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 33/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9880100 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0131 | 1 | 224 | 0.0045 | -12 | c.192 others(33): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 17/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9942973 | GAAAGAGG others(5): Show |
G | intron_variant | MODIFIER | NA18946.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 a0001c0001t0002g0113 |
2 | 224 | 0.0089 | -12 | c.186 others(33): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9952241 | TAAATACA others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0003g0031 |
2 | 224 | 0.0089 | -12 | c.186 others(31): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9952247 | CACAAACA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01109.hp2 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0142 a0001c0001t0001g0211 a0001c0001t0002g0134 others(17): Show |
20 | 224 | 0.0893 | -12 | c.186 others(31): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9967911 | ATCTGTCT others(5): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG02738.hp2 |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0004a0009c0014t0002 | a0001c0001t0004g0053 a0009c0014t0002g0071 |
2 | 224 | 0.0089 | -12 | c.160 others(29): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 14/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9967965 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03130.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0005a0001c0018t0001 | a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0018t0001g0050 |
3 | 224 | 0.0134 | -12 | c.160 others(29): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 14/39 | chr11 | TogoVar |