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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHQ1_chr3_72744277_72853445 | 72852106 | CTATATAT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0058 |
2 | 222 | 0.0090 | -12 | c.-37 others(23): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 3662 | chr3 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9786352 | AGCCCCGG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01070.hp2 others(57): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0007others(33): Show | a0001c0001t0001a0001c0001t0017a0001c0003t0001others(39): Show | a0001c0001t0001g0090 a0001c0001t0001g0195 a0001c0001t0001g0196 others(57): Show |
60 | 256 | 0.2344 | -12 | c.-19 others(21): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 76 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9799157 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0023a0001c0001t0024others(12): Show | a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0177 others(30): Show |
33 | 256 | 0.1289 | -12 | c.165 others(31): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9815434 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01070.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0003t0001g0251 others(10): Show |
13 | 256 | 0.0508 | -12 | c.165 others(31): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823020 | TCTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp1 HG02922.hp2 others(2): Show |
a0001a0004a0009others(2): Show | a0001c0003a0004c0015a0009c0053others(2): Show | a0001c0003t0001a0004c0015t0002a0009c0053t0005others(2): Show | a0001c0003t0001g0252 a0004c0015t0002g0121 a0009c0053t0005g0134 others(2): Show |
5 | 256 | 0.0195 | -12 | c.165 others(31): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823026 | TCTCCTCC others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01081.hp2 others(34): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0025a0001c0003t0001others(28): Show | a0001c0001t0001g0077 a0001c0001t0001g0196 a0001c0001t0025g0224 others(34): Show |
37 | 256 | 0.1445 | -12 | c.165 others(31): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9833608 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0087 | 1 | 256 | 0.0039 | -12 | c.166 others(31): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9834623 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02451.hp1 others(3): Show |
a0003a0004a0017 | a0003c0004a0004c0015a0004c0023others(2): Show | a0003c0004t0004a0004c0015t0012a0004c0023t0002others(3): Show | a0003c0004t0004g0192 a0004c0015t0012g0173 a0004c0023t0002g0014 others(3): Show |
6 | 256 | 0.0234 | -12 | c.166 others(31): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9868206 | ATTTATTT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0017others(26): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0017others(40): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0018 others(120): Show |
123 | 256 | 0.4805 | -12 | c.166 others(29): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9868727 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03041.hp1 NA19030.hp2 |
a0002a0039 | a0002c0005a0002c0019a0039c0065 | a0002c0005t0002a0002c0019t0006a0039c0065t0004 | a0002c0005t0002g0237 a0002c0019t0006g0223 a0039c0065t0004g0122 |
3 | 256 | 0.0117 | -12 | c.166 others(29): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9891754 | ATGTGTCT others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01891.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0017a0002c0025a0003c0009others(3): Show | a0001c0017t0001a0001c0017t0026a0001c0017t0028others(8): Show | a0001c0017t0001g0045 a0001c0017t0026g0041 a0001c0017t0028g0161 others(10): Show |
13 | 256 | 0.0508 | -12 | c.449 others(27): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9895137 | CCTCTCTG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG00609.hp1 NA18965.hp1 NA18979.hp2 others(4): Show |
a0006a0008a0018others(1): Show | a0006c0022a0006c0059a0008c0021others(2): Show | a0006c0022t0007a0006c0059t0010a0008c0021t0001others(2): Show | a0006c0022t0007g0037 a0006c0022t0007g0044 a0006c0059t0010g0101 others(4): Show |
7 | 256 | 0.0273 | -12 | c.123 others(21): Show |
p.Leu others(13): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 4/10 | 1350/7474 | 1233/4851 | 411/1616 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
SHROOM2_chrX_9781429_9954443 | 9912107 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00735.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0012a0001c0017a0002c0002others(8): Show | a0001c0012t0001a0001c0017t0001a0001c0017t0026others(12): Show | a0001c0012t0001g0027 a0001c0012t0001g0095 a0001c0012t0001g0180 others(19): Show |
22 | 256 | 0.0859 | -12 | c.289 others(33): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9912198 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02818.hp1 others(2): Show |
a0005a0009a0042 | a0005c0018a0005c0040a0009c0053others(1): Show | a0005c0018t0006a0005c0040t0003a0009c0053t0005others(1): Show | a0005c0018t0006g0016 a0005c0018t0006g0143 a0005c0040t0003g0242 others(2): Show |
5 | 256 | 0.0195 | -12 | c.289 others(33): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76461020 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01243.hp1 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0015a0001c0019others(9): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0022others(13): Show | a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0140 others(23): Show |
26 | 218 | 0.1193 | -12 | c.168 others(31): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76480496 | TAGAGACC others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01243.hp1 others(21): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0015a0002c0002others(10): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0019others(14): Show | a0001c0001t0002g0110 a0001c0001t0002g0161 a0001c0001t0002g0166 others(21): Show |
24 | 218 | 0.1101 | -12 | c.168 others(31): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76484600 | CAAACAAA others(5): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 HG03139.hp2 others(1): Show |
a0001a0017 | a0001c0017a0001c0036a0017c0046 | a0001c0017t0011a0001c0036t0025a0017c0046t0006 | a0001c0017t0011g0217 a0001c0017t0011g0218 a0001c0036t0025g0184 others(1): Show |
4 | 218 | 0.0184 | -12 | c.168 others(31): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76570156 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA18982.hp1 NA19070.hp1 NA19082.hp2 |
a0003a0031 | a0003c0003a0031c0044 | a0003c0003t0001a0031c0044t0001 | a0003c0003t0001g0075 a0003c0003t0001g0125 a0031c0044t0001g0088 |
3 | 218 | 0.0138 | -12 | c.323 others(31): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76573381 | CAATAATA others(5): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02572.hp2 HG02615.hp1 others(2): Show |
a0004a0006a0017 | a0004c0004a0006c0013a0017c0025 | a0004c0004t0001a0004c0004t0009a0006c0013t0001others(1): Show | a0004c0004t0001g0029 a0004c0004t0001g0101 a0004c0004t0009g0102 others(2): Show |
5 | 218 | 0.0229 | -12 | c.323 others(31): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76650519 | ATATTTAT others(5): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00642.hp1 others(62): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0015a0001c0019others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(32): Show | a0001c0001t0001g0174 a0001c0001t0002g0009 a0001c0001t0002g0105 others(62): Show |
65 | 218 | 0.2982 | -12 | c.324 others(31): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76651401 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02523.hp1 HG02572.hp1 HG03225.hp1 |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0007 | a0001c0001t0016a0003c0003t0003a0008c0007t0001 | a0001c0001t0016g0193 a0003c0003t0003g0204 a0008c0007t0001g0056 |
3 | 218 | 0.0138 | -12 | c.324 others(31): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76746781 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp1 others(16): Show |
a0001a0002a0006others(5): Show | a0001c0001a0002c0002a0006c0013others(8): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0003others(12): Show | a0001c0001t0002g0110 a0001c0001t0002g0147 a0002c0002t0001g0011 others(16): Show |
19 | 218 | 0.0872 | -12 | c.375 others(31): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76770324 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19002.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0129 | 1 | 218 | 0.0046 | -12 | c.535 others(29): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50618277 | CCCCTTCC others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp1 NA18906.hp1 |
a0003 | a0003c0004 | a0003c0004t0006a0003c0004t0007 | a0003c0004t0006g0127 a0003c0004t0007g0044 |
2 | 175 | 0.0114 | -12 | c.295 others(31): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50660591 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 175 | 0.0057 | -12 | c.270 others(31): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 2/8 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116899538 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | NA18980.hp2 NA19081.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0098 a0001c0003t0001g0097 |
2 | 292 | 0.0069 | -12 | c.167 others(31): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116924746 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG03942.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0003g0001 a0001c0001t0003g0187 a0001c0001t0005g0002 others(3): Show |
6 | 292 | 0.0206 | -12 | c.111 others(31): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116937085 | AGCACACC others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03471.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 |
3 | 292 | 0.0103 | -12 | c.858 others(29): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116963035 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA18956.hp2 NA18973.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0206 a0001c0001t0005g0243 a0001c0001t0005g0255 others(1): Show |
4 | 292 | 0.0137 | -12 | c.173 others(29): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 3/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116983633 | CAGATAGA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0068 | a0001c0001t0051g0149 a0001c0001t0068g0007 |
2 | 292 | 0.0069 | -12 | c.59- others(27): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116983675 | GATAGATA others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0012 a0001c0001t0019g0013 a0001c0001t0019g0014 |
3 | 292 | 0.0103 | -12 | c.59- others(27): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116983679 | GATAGATA others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(93): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(93): Show |
96 | 292 | 0.3288 | -12 | c.59- others(27): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116983683 | GATAAATA others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0157 | 1 | 292 | 0.0034 | -12 | c.59- others(27): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116983687 | AATACATA others(5): Show |
A | intron_variant | MODIFIER | NA18962.hp2 NA18965.hp1 NA18989.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0050 | a0001c0001t0002g0209 a0001c0001t0002g0237 a0001c0001t0013g0238 others(1): Show |
4 | 292 | 0.0137 | -12 | c.59- others(27): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
SIAE_chr11_124628113_124678739 | 124628116 | TACACACA others(5): Show |
T | downstream_gene_variant | MODIFIER | NA18966.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0215 | 1 | 290 | 0.0035 | -12 | c.*88 others(23): Show |
SIAE | ENSG00000110013.13 | transcript | ENST00000263593.8 | protein_coding | 4996 | chr11 | TogoVar | |||||||
SIAH1_chr16_48355531_48390413 | 48363940 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0056 others(1): Show |
6 | 256 | 0.0234 | -12 | c.-2- others(27): Show |
SIAH1 | ENSG00000196470.12 | transcript | ENST00000394725.3 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
SIAH2_chr3_150736125_150768169 | 150745240 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0162 a0001c0001t0004g0054 a0001c0001t0004g0055 others(4): Show |
9 | 346 | 0.0260 | -12 | c.418 others(29): Show |
SIAH2 | ENSG00000181788.4 | transcript | ENST00000312960.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
SIAH2_chr3_150736125_150768169 | 150747787 | AAAAAACA others(5): Show |
A | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 346 | 0.0029 | -12 | c.418 others(29): Show |
SIAH2 | ENSG00000181788.4 | transcript | ENST00000312960.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45789357 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00639.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0234 others(25): Show |
29 | 364 | 0.0797 | -12 | c.136 others(29): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45804963 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0345 | 1 | 364 | 0.0028 | -12 | c.136 others(31): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45822520 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0215 others(43): Show |
47 | 364 | 0.1291 | -12 | c.135 others(31): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45831179 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01361.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0018a0001c0001t0020others(6): Show | a0001c0001t0016g0027 a0001c0001t0016g0224 a0001c0001t0018g0099 others(8): Show |
11 | 364 | 0.0302 | -12 | c.135 others(31): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45836688 | ATGGGATG others(5): Show |
A | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0177 | 1 | 364 | 0.0028 | -12 | c.135 others(31): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIAH3_chr13_45772242_45856753 | 45850919 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0224 | 1 | 364 | 0.0028 | -12 | c.135 others(27): Show |
SIAH3 | ENSG00000215475.5 | transcript | ENST00000400405.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
SIDT1_chr3_113527555_113634575 | 113533846 | CATCAGCT others(5): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 318 | 0.0031 | -12 | c.222 others(27): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113542902 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01192.hp1 HG02258.hp2 others(23): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(16): Show | a0001c0001t0001g0261 a0001c0001t0003g0268 a0001c0002t0001g0264 others(23): Show |
26 | 318 | 0.0818 | -12 | c.222 others(29): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT1_chr3_113527555_113634575 | 113544171 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(121): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(33): Show | a0001c0001t0001g0035 a0001c0001t0001g0060 a0001c0001t0001g0086 others(121): Show |
124 | 318 | 0.3899 | -12 | c.222 others(31): Show |
SIDT1 | ENSG00000072858.11 | transcript | ENST00000264852.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIDT2_chr11_117173743_117202442 | 117176257 | TCTGGTCT others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18977.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0006 | 1 | 430 | 0.0023 | -12 | c.-30 others(23): Show |
SIDT2 | ENSG00000149577.17 | transcript | ENST00000324225.9 | protein_coding | 2485 | chr11 | TogoVar | |||||||
SIDT2_chr11_117173743_117202442 | 117195085 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG01074.hp1 others(64): Show |
a0001a0007a0011 | a0001c0001a0001c0011a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0018 others(28): Show |
67 | 430 | 0.1558 | -12 | c.232 others(29): Show |
SIDT2 | ENSG00000149577.17 | transcript | ENST00000324225.9 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401464 | GCTCACAC others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 242 | 0.0041 | -12 | c.*44 others(23): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4251 | chr11 | TogoVar |