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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPPL3_chr12_120757510_120909358 | 120853983 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0075 | 1 | 320 | 0.0031 | 16 | c.24- others(33): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38310153 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0018 others(51): Show |
56 | 378 | 0.1482 | 16 | c.207 others(35): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38336426 | A | ATGTGTAT others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 others(44): Show |
49 | 378 | 0.1296 | 16 | c.424 others(33): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38360847 | A | ATTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG02148.hp1 HG02559.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(4): Show | a0001c0001t0001g0120 a0001c0001t0002g0290 a0001c0001t0030g0181 others(10): Show |
13 | 378 | 0.0344 | 16 | c.*91 others(27): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 3599 | chr15 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65401937 | G | GCGCACAC others(9): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0049 a0001c0001t0003g0203 |
2 | 276 | 0.0073 | 16 | c.26+ others(33): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65401937 | G | GCGCGCAC others(9): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02155.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0015 a0001c0001t0002g0064 a0001c0001t0002g0070 others(6): Show |
9 | 276 | 0.0326 | 16 | c.26+ others(33): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65401937 | G | GCGCGCAC others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02896.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0004 | a0001c0001t0002g0079 a0001c0001t0003g0246 a0001c0001t0003g0247 others(2): Show |
5 | 276 | 0.0181 | 16 | c.26+ others(33): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65401937 | G | GCGCGCGC others(9): Show |
intron_variant | MODIFIER | HG04184.hp1 NA19068.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0112 a0001c0002t0002g0056 |
2 | 276 | 0.0073 | 16 | c.26+ others(33): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65401937 | G | GCGCGCGC others(9): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18960.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0028 a0001c0001t0003g0098 a0001c0001t0003g0099 |
3 | 276 | 0.0109 | 16 | c.26+ others(33): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65401937 | G | GCGCGCGC others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0019 | a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0002t0019g0229 |
3 | 276 | 0.0109 | 16 | c.26+ others(33): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65422104 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0039 a0001c0001t0011g0086 |
2 | 276 | 0.0073 | 16 | c.26+ others(31): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED3_chr19_38383697_38404587 | 38388411 | C | CAGCCCCT others(9): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0016 others(40): Show |
87 | 360 | 0.2417 | 16 | c.-40 others(25): Show |
SPRED3 | ENSG00000188766.13 | transcript | ENST00000691638.1 | protein_coding | 285 | chr19 | TogoVar | |||||||
SPRED3_chr19_38383697_38404587 | 38398224 | C | CTATTTAT others(9): Show |
3_prime_UTR_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0033 | 1 | 360 | 0.0028 | 16 | c.*20 others(27): Show |
SPRED3 | ENSG00000188766.13 | transcript | ENST00000691638.1 | protein_coding | 6/6 | 2109 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SPRING1_chr12_116705171_116743069 | 116711025 | A | ACACACAC others(9): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(88): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(14): Show | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0014 others(43): Show |
91 | 362 | 0.2514 | 16 | c.*67 others(27): Show |
SPRING1 | ENSG00000111412.6 | transcript | ENST00000261318.5 | protein_coding | 5/5 | 6784 | chr12 | TogoVar | ||||||
SPRN_chr10_133415666_133429625 | 133415983 | C | CGGGCAGG others(9): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01070.hp2 others(24): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0027a0002c0002t0028a0002c0002t0056others(6): Show | a0002c0002t0027g0041 a0002c0002t0028g0098 a0002c0002t0028g0101 others(8): Show |
27 | 474 | 0.0570 | 16 | c.*72 others(27): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 4682 | chr10 | TogoVar | |||||||
SPRR1A_chr1_152979081_152990814 | 152979857 | T | TCTCTCTC others(9): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0003 | 1 | 402 | 0.0025 | 16 | c.-42 others(27): Show |
SPRR1A | ENSG00000169474.5 | transcript | ENST00000368762.2 | protein_coding | 4223 | chr1 | TogoVar | |||||||
SPRR2B_chr1_153065226_153076611 | 153073695 | T | TCACACAC others(9): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03041.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 430 | 0.0070 | 16 | c.-21 others(27): Show |
SPRR2B | ENSG00000196805.8 | transcript | ENST00000368755.3 | protein_coding | 2085 | chr1 | TogoVar | |||||||
SPRR5_chr1_152942206_152954255 | 152948382 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0021 | 1 | 436 | 0.0023 | 16 | c.-18 others(31): Show |
SPRR5 | ENSG00000283227.2 | transcript | ENST00000636302.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155632219 | C | CCACACAC others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0122 | a0001c0001t0043g0132 a0001c0001t0122g0107 |
2 | 231 | 0.0087 | 16 | c.-28 others(37): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155659104 | C | CTTCTTTC others(9): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02486.hp1 HG04184.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0035a0001c0001t0071others(2): Show | a0001c0001t0033g0219 a0001c0001t0035g0187 a0001c0001t0071g0088 others(2): Show |
5 | 231 | 0.0217 | 16 | c.-28 others(37): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155680145 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03710.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013 | a0001c0001t0010g0083 a0001c0001t0013g0022 a0001c0001t0013g0042 |
3 | 231 | 0.0130 | 16 | c.-28 others(37): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155755120 | T | TTGTTTGA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0007g0084 a0001c0001t0010g0104 a0001c0001t0019g0208 others(1): Show |
4 | 231 | 0.0173 | 16 | c.-28 others(37): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
SPRY4_chr5_142305430_142330021 | 142311935 | G | GGTGTGTG others(9): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(16): Show | a0001c0001t0002g0001 a0001c0001t0002g0066 a0001c0001t0002g0073 others(38): Show |
77 | 378 | 0.2037 | 16 | c.*22 others(27): Show |
SPRY4 | ENSG00000187678.10 | transcript | ENST00000434127.3 | protein_coding | 2/2 | 2273 | chr5 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9361156 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0223 a0001c0001t0014g0229 |
2 | 370 | 0.0054 | 16 | c.694 others(33): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB2_chr12_6865935_6878303 | 6866754 | G | GTTCTAGA others(9): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | 16 | c.*44 others(27): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 4180 | chr12 | TogoVar | |||||||
SPSB4_chr3_141046347_141153611 | 141112644 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18947.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0053a0001c0001t0057a0001c0002t0003 | a0001c0001t0053g0020 a0001c0001t0057g0177 a0001c0002t0003g0037 |
3 | 254 | 0.0118 | 16 | c.695 others(35): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPTA1_chr1_158605704_158691715 | 158659595 | A | ATTATTTT others(9): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 370 | 0.0027 | 16 | c.258 others(35): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 18/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158659595 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18955.hp1 NA18957.hp1 others(1): Show |
a0001a0016a0024 | a0001c0001a0016c0026a0024c0027 | a0001c0001t0002a0016c0026t0031a0024c0027t0008 | a0001c0001t0002g0113 a0001c0001t0002g0118 a0016c0026t0031g0040 others(1): Show |
4 | 370 | 0.0108 | 16 | c.258 others(35): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 18/51 | chr1 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128561662 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02738.hp1 HG03834.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0051 a0001c0001t0001g0074 a0001c0001t0001g0105 others(5): Show |
8 | 312 | 0.0256 | 16 | c.-3- others(31): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128562990 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0018 | 1 | 312 | 0.0032 | 16 | c.-3- others(31): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128570330 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0278 | 1 | 312 | 0.0032 | 16 | c.363 others(33): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 3/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128570330 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0282 | 1 | 312 | 0.0032 | 16 | c.363 others(33): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 3/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128596609 | C | CAAATATA others(9): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 a0001c0002t0001g0011 |
2 | 312 | 0.0064 | 16 | c.341 others(35): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 24/56 | chr9 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54465637 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG01517.hp1 NA18964.hp2 |
a0001 | a0001c0002a0001c0026 | a0001c0002t0001a0001c0026t0005 | a0001c0002t0001g0115 a0001c0026t0005g0283 |
2 | 370 | 0.0054 | 16 | c.-48 others(33): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54465639 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0313 | 1 | 370 | 0.0027 | 16 | c.-48 others(33): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522657 | A | AGGAGAGA others(9): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0003 | a0001c0003t0033 | a0001c0003t0033g0172 | 1 | 370 | 0.0027 | 16 | c.-47 others(33): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54522697 | G | GAAAGAGA others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01255.hp2 HG02055.hp1 others(14): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0003a0001c0001t0018a0001c0005t0008others(5): Show | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(14): Show |
17 | 370 | 0.0460 | 16 | c.-47 others(33): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522711 | G | GAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0015 | a0001c0015t0005 | a0001c0015t0005g0064 | 1 | 370 | 0.0027 | 16 | c.-47 others(33): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54530353 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0105 | 1 | 370 | 0.0027 | 16 | c.148 others(33): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54562533 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02258.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0007a0001c0003t0003a0001c0005t0008others(5): Show | a0001c0001t0007g0196 a0001c0003t0003g0257 a0001c0003t0003g0366 others(25): Show |
28 | 370 | 0.0757 | 16 | c.148 others(35): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54562696 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0003a0001c0004t0004a0001c0004t0010others(6): Show | a0001c0003t0003g0037 a0001c0004t0004g0201 a0001c0004t0010g0175 others(6): Show |
9 | 370 | 0.0243 | 16 | c.148 others(35): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54576055 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01169.hp1 others(12): Show |
a0001 | a0001c0004a0001c0008 | a0001c0004t0004a0001c0004t0007a0001c0004t0010others(1): Show | a0001c0004t0004g0071 a0001c0004t0004g0072 a0001c0004t0004g0096 others(12): Show |
15 | 370 | 0.0405 | 16 | c.149 others(35): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54581577 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0003a0001c0003t0027a0002c0006t0003 | a0001c0003t0003g0261 a0001c0003t0003g0305 a0001c0003t0027g0053 others(1): Show |
4 | 370 | 0.0108 | 16 | c.149 others(35): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54594833 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02451.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 |
3 | 370 | 0.0081 | 16 | c.149 others(33): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40479675 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0004a0024 | a0001c0001a0001c0008a0004c0011others(1): Show | a0001c0001t0001a0001c0008t0001a0004c0011t0001others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0201 a0001c0008t0001g0060 others(3): Show |
6 | 234 | 0.0256 | 16 | c.169 others(33): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40505700 | G | GAGGAAGG others(9): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02145.hp2 HG02895.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0008a0001c0010others(3): Show | a0001c0002t0002a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0002t0002g0183 a0001c0008t0001g0046 a0001c0010t0001g0093 others(5): Show |
8 | 234 | 0.0342 | 16 | c.166 others(33): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTB_chr14_64741283_64884907 | 64744771 | A | ATTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 HG02976.hp2 HG03704.hp2 |
a0002a0020a0026 | a0002c0003a0020c0062a0026c0041 | a0002c0003t0008a0020c0062t0005a0026c0041t0005 | a0002c0003t0008g0118 a0020c0062t0005g0214 a0026c0041t0005g0155 |
3 | 268 | 0.0112 | 16 | c.*45 others(27): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1511 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64751927 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03654.hp2 HG03704.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0006a0001c0001t0035a0001c0002t0002others(6): Show | a0001c0001t0006g0002 a0001c0001t0006g0154 a0001c0001t0035g0025 others(7): Show |
10 | 268 | 0.0373 | 16 | c.660 others(35): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 33/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64765017 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02615.hp1 others(5): Show |
a0001a0002a0009others(2): Show | a0001c0021a0002c0003a0009c0020others(2): Show | a0001c0021t0009a0002c0003t0012a0009c0020t0001others(2): Show | a0001c0021t0009g0101 a0002c0003t0012g0159 a0002c0003t0012g0160 others(5): Show |
8 | 268 | 0.0299 | 16 | c.634 others(35): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 32/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64765025 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0006 | a0002c0006t0011 | a0002c0006t0011g0181 | 1 | 268 | 0.0037 | 16 | c.634 others(35): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 32/35 | chr14 | TogoVar |