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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SAMD12_chr8_118372984_118626963 | 118543631 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02257.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0033 others(15): Show |
18 | 147 | 0.1224 | 9 | c.192 others(28): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118543632 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02451.hp2 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0041 a0001c0001t0003g0183 a0001c0001t0006g0043 others(7): Show |
10 | 186 | 0.0538 | 9 | c.192 others(28): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD13_chr1_84296708_84355798 | 84331354 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01361.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0020 others(16): Show |
27 | 91 | 0.2967 | 9 | c.165 others(26): Show |
SAMD13 | ENSG00000203943.9 | transcript | ENST00000394834.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130180953 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01261.hp2 others(32): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 others(31): Show |
35 | 74 | 0.4730 | 9 | c.654 others(26): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54623625 | T | TGGGGAGA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(204): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(85): Show | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0024 others(204): Show |
207 | 260 | 0.7962 | 9 | c.196 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54675367 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02630.hp2 NA18955.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0002g0154 a0001c0001t0002g0252 a0001c0001t0004g0255 others(4): Show |
7 | 77 | 0.0909 | 9 | c.197 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54688931 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp1 others(34): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0260 a0001c0001t0002g0152 a0001c0001t0002g0190 others(34): Show |
37 | 173 | 0.2139 | 9 | c.197 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54718554 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01081.hp2 others(19): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0035 a0001c0001t0001g0057 a0001c0001t0001g0075 others(19): Show |
22 | 258 | 0.0853 | 9 | c.715 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54727133 | A | AATGAAGC others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0155 a0001c0001t0029g0206 |
2 | 260 | 0.0077 | 9 | c.716 others(26): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54737561 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0087 a0001c0001t0001g0099 others(13): Show |
16 | 178 | 0.0899 | 9 | c.979 others(24): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54739055 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0075 a0001c0001t0001g0099 others(18): Show |
21 | 38 | 0.5526 | 9 | c.979 others(26): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54757425 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02165.hp1 HG02738.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0259 a0001c0001t0002g0202 a0001c0001t0003g0201 others(2): Show |
5 | 211 | 0.0237 | 9 | c.117 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54774652 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(58): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0031 others(58): Show |
61 | 234 | 0.2607 | 9 | c.171 others(26): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD5_chr6_147503690_147575021 | 147546530 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00639.hp1 others(21): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0266 a0001c0001t0003g0284 a0001c0001t0005g0313 others(21): Show |
24 | 66 | 0.3636 | 9 | c.460 others(28): Show |
SAMD5 | ENSG00000203727.4 | transcript | ENST00000367474.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SAMD9_chr7_93094518_93122979 | 93117258 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01074.hp2 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0002a0002c0003a0006c0008others(1): Show | a0001c0002t0001a0002c0003t0002a0006c0008t0001others(1): Show | a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0043 others(5): Show |
17 | 191 | 0.0890 | 9 | c.-11 others(26): Show |
SAMD9 | ENSG00000205413.8 | transcript | ENST00000379958.3 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
SAMSN1_chr21_14480228_14551315 | 14481572 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0158 others(5): Show |
8 | 29 | 0.2759 | 9 | c.*43 others(20): Show |
SAMSN1 | ENSG00000155307.19 | transcript | ENST00000400566.6 | protein_coding | 3655 | chr21 | TogoVar | |||||||
SANBR_chr2_61060871_61129280 | 61072821 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(39): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(4): Show | a0001c0001t0001g0181 a0001c0001t0011g0183 a0001c0002t0001g0005 others(35): Show |
42 | 123 | 0.3415 | 9 | c.338 others(24): Show |
SANBR | ENSG00000162929.14 | transcript | ENST00000402291.6 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SAP130_chr2_127936222_128033059 | 127980896 | T | TCAACAAC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(250): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(243): Show |
253 | 337 | 0.7507 | 9 | c.195 others(28): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SAP18_chr13_21135119_21154097 | 21150909 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01975.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0027 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0008g0027 others(3): Show |
14 | 45 | 0.3111 | 9 | c.*35 others(20): Show |
SAP18 | ENSG00000150459.13 | transcript | ENST00000382533.9 | protein_coding | 1813 | chr13 | TogoVar | |||||||
SAP30BP_chr17_75662338_75713059 | 75709792 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01978.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0165 others(13): Show |
17 | 19 | 0.8947 | 9 | c.*32 others(20): Show |
SAP30BP | ENSG00000161526.15 | transcript | ENST00000584667.6 | protein_coding | 1734 | chr17 | TogoVar | |||||||
SAR1A_chr10_70142289_70175514 | 70149547 | A | ATTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(19): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 others(53): Show |
86 | 109 | 0.7890 | 9 | c.*29 others(20): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 7/7 | 2928 | chr10 | TogoVar | ||||||
SAR1A_chr10_70142289_70175514 | 70158757 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG03041.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0028others(6): Show | a0001c0001t0001g0075 a0001c0001t0010g0096 a0001c0001t0028g0047 others(7): Show |
11 | 184 | 0.0598 | 9 | c.245 others(24): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133726368 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01192.hp1 others(10): Show |
a0001a0002a0014 | a0001c0001a0001c0007a0001c0024others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0070 others(10): Show |
13 | 156 | 0.0833 | 9 | c.915 others(26): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 6/20 | chr9 | TogoVar | |||||||
SARS2_chr19_38910266_38935763 | 38933720 | T | TGTGTGTG others(2): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 NA18966.hp1 NA18975.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0030 a0001c0002t0001g0154 a0001c0002t0002g0157 |
3 | 412 | 0.0073 | 9 | c.-29 others(20): Show |
SARS2 | ENSG00000104835.15 | transcript | ENST00000221431.11 | protein_coding | 2958 | chr19 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148356494 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02109.hp2 HG02165.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0002g0297 a0001c0001t0005g0256 a0001c0001t0007g0298 others(10): Show |
13 | 90 | 0.1444 | 9 | c.156 others(28): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148381617 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02602.hp1 HG03491.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0002a0001c0007t0022a0001c0009t0004others(2): Show | a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0007t0022g0233 others(3): Show |
6 | 82 | 0.0732 | 9 | c.157 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148387644 | C | CTTCCTTC others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0031 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0002g0242 a0001c0001t0007g0061 a0001c0001t0008g0060 others(2): Show |
5 | 308 | 0.0162 | 9 | c.157 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148428629 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(34): Show | a0001c0001t0001g0116 a0001c0001t0001g0289 a0001c0001t0001g0295 others(76): Show |
79 | 133 | 0.5940 | 9 | c.286 others(28): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148449081 | T | TTTCTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00741.hp1 others(46): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(27): Show | a0001c0001t0001g0162 a0001c0001t0001g0295 a0001c0001t0002g0024 others(46): Show |
49 | 320 | 0.1531 | 9 | c.386 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148456873 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00639.hp2 others(23): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0289 a0001c0001t0002g0200 a0001c0001t0005g0307 others(23): Show |
26 | 138 | 0.1884 | 9 | c.387 others(28): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148482688 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01109.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0050 a0001c0001t0001g0116 a0001c0001t0004g0296 others(11): Show |
14 | 79 | 0.1772 | 9 | c.628 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148507358 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00639.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0050 a0001c0001t0001g0108 a0001c0001t0001g0151 others(33): Show |
36 | 254 | 0.1417 | 9 | c.730 others(26): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SATB1_chr3_18340377_18430339 | 18425824 | G | GGGGCAGG others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0072a0001c0001t0073a0001c0002t0005others(6): Show | a0001c0001t0072g0072 a0001c0001t0073g0078 a0001c0002t0005g0088 others(10): Show |
15 | 350 | 0.0429 | 9 | c.-22 others(20): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 486 | chr3 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85220644 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02074.hp1 HG02083.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0105 a0001c0001t0001g0139 a0001c0001t0001g0170 others(2): Show |
5 | 24 | 0.2083 | 9 | c.-31 others(28): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9794676 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(28): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0076 others(28): Show |
31 | 54 | 0.5741 | 9 | c.457 others(28): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 33/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9835631 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00741.hp2 others(9): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0020others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0040 a0001c0001t0001g0114 a0001c0001t0001g0168 others(9): Show |
12 | 44 | 0.2727 | 9 | c.345 others(28): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 26/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9871470 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(37): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0119 others(37): Show |
40 | 100 | 0.4000 | 9 | c.193 others(30): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 17/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9886699 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00673.hp2 others(58): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 others(58): Show |
61 | 166 | 0.3675 | 9 | c.192 others(28): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 17/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9908686 | C | CGTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(112): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 others(112): Show |
115 | 222 | 0.5180 | 9 | c.186 others(30): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 9932006 | C | CGATCAAC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp2 others(48): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0044 others(48): Show |
51 | 222 | 0.2297 | 9 | c.186 others(30): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 16/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10094528 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01175.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0092 others(22): Show |
25 | 103 | 0.2427 | 9 | c.142 others(28): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10188386 | A | AGATGTAG others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 others(44): Show |
47 | 222 | 0.2117 | 9 | c.141 others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 2/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10211014 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(65): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0085 others(65): Show |
68 | 72 | 0.9444 | 9 | c.56- others(26): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123286575 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01069.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009a0001c0002t0021others(5): Show | a0001c0002t0002g0222 a0001c0002t0002g0235 a0001c0002t0002g0236 others(11): Show |
14 | 100 | 0.1400 | 9 | c.*93 others(20): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 2533 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164387 | C | CAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02280.hp2 others(4): Show |
a0001a0002a0009 | a0001c0006a0001c0016a0001c0030others(2): Show | a0001c0006t0006a0001c0016t0005a0001c0030t0001others(3): Show | a0001c0006t0006g0049 a0001c0016t0005g0029 a0001c0030t0001g0015 others(4): Show |
7 | 192 | 0.0365 | 9 | c.-12 others(28): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31688114 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02135.hp1 HG02273.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0003t0001a0001c0011t0001 | a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0086 others(5): Show |
8 | 35 | 0.2286 | 9 | c.204 others(26): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 16/19 | chr21 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154729472 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02055.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0227 a0001c0001t0002g0275 a0001c0001t0002g0276 others(2): Show |
5 | 14 | 0.3571 | 9 | c.-44 others(20): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3943 | chr6 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125073092 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01071.hp1 others(17): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0012a0002c0002t0001a0002c0002t0007others(6): Show | a0001c0003t0012g0204 a0001c0003t0012g0205 a0002c0002t0001g0218 others(17): Show |
20 | 111 | 0.1802 | 9 | c.99- others(26): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78404453 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG02965.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0005g0144 others(3): Show |
6 | 115 | 0.0522 | 9 | c.136 others(28): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP2_chr15_74838730_74878365 | 74874661 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG03540.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0119 others(1): Show |
4 | 137 | 0.0292 | 9 | c.-14 others(20): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1297 | chr15 | TogoVar |