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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHISA7_chr19_55423740_55448300 | 55448145 | ACACACAC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0078 others(28): Show |
71 | 370 | 0.1919 | -9 | c.-52 others(20): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 4846 | chr19 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 12968189 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02630.hp2 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0029others(2): Show | a0001c0001t0002g0002 a0001c0001t0003g0099 a0001c0001t0029g0003 others(2): Show |
5 | 21 | 0.2381 | -9 | c.691 others(28): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13238815 | TTTATTAT others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02738.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0073a0001c0001t0084 | a0001c0001t0073g0109 a0001c0001t0084g0151 |
2 | 46 | 0.0435 | -9 | c.*34 others(20): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 5/5 | 3435 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SHISAL1_chr22_44238665_44317951 | 44253425 | ATGTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02109.hp1 HG02717.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0029a0001c0002t0001others(1): Show | a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0029g0116 others(8): Show |
11 | 223 | 0.0493 | -9 | c.600 others(26): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHKBP1_chr19_40571873_40596397 | 40595905 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00597.hp1 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0002g0022 a0001c0002t0001g0003 a0001c0002t0001g0008 others(49): Show |
80 | 165 | 0.4848 | -9 | c.*46 others(20): Show |
SHKBP1 | ENSG00000160410.15 | transcript | ENST00000291842.10 | protein_coding | 4509 | chr19 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5791250 | CAAATAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(195): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(195): Show |
198 | 326 | 0.6074 | -9 | c.178 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5829101 | CCTGGGCT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0057 others(123): Show |
126 | 326 | 0.3865 | -9 | c.179 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5850112 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG01516.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0021 a0001c0001t0001g0175 a0001c0001t0001g0296 others(10): Show |
13 | 26 | 0.5000 | -9 | c.179 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD3_chr5_65620027_65635928 | 65624708 | CTCTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01168.hp1 HG01261.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0034 others(3): Show |
13 | 230 | 0.0565 | -9 | c.-51 others(18): Show |
SHLD3 | ENSG00000253251.3 | transcript | ENST00000510585.3 | protein_coding | 318 | chr5 | TogoVar | |||||||
SHOC2_chr10_110914604_111018665 | 110998683 | AAGTGGTG others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0125 a0001c0001t0001g0126 others(5): Show |
9 | 384 | 0.0234 | -9 | c.842 others(26): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
SHPK_chr17_3603240_3641250 | 3624257 | TGAAGAAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00642.hp2 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0015a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0004g0205 a0001c0001t0004g0214 a0001c0001t0004g0215 others(15): Show |
18 | 380 | 0.0474 | -9 | c.311 others(22): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72748329 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0001g0058 a0002c0002t0001g0113 a0002c0002t0001g0114 others(32): Show |
35 | 97 | 0.3608 | -9 | c.*19 others(20): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 947 | chr3 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9816580 | CCTGCTGC others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp2 others(20): Show |
a0001a0002a0003others(12): Show | a0001c0003a0002c0002a0002c0006others(15): Show | a0001c0003t0001a0002c0002t0002a0002c0006t0002others(18): Show | a0001c0003t0001g0129 a0001c0003t0001g0235 a0002c0002t0002g0245 others(20): Show |
23 | 82 | 0.2805 | -9 | c.165 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9822985 | ATTCTTCT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG06807.hp1 others(1): Show |
a0003a0004a0021 | a0003c0004a0004c0016a0004c0024others(1): Show | a0003c0004t0004a0004c0016t0011a0004c0024t0002others(1): Show | a0003c0004t0004g0196 a0004c0016t0011g0175 a0004c0024t0002g0029 others(1): Show |
4 | 153 | 0.0261 | -9 | c.165 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823026 | TCTCCTCC others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp1 others(39): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0013others(21): Show | a0001c0001t0001a0001c0001t0018a0001c0003t0001others(25): Show | a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0061 others(39): Show |
42 | 118 | 0.3559 | -9 | c.165 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9927356 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02109.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0006a0002c0010others(8): Show | a0001c0001t0001a0002c0006t0003a0002c0010t0003others(9): Show | a0001c0001t0001g0207 a0002c0006t0003g0005 a0002c0010t0003g0232 others(10): Show |
13 | 34 | 0.3824 | -9 | c.289 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76444484 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02071.hp1 HG02809.hp2 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0005c0023others(2): Show | a0001c0001t0002a0002c0003t0001a0005c0023t0001others(2): Show | a0001c0001t0002g0181 a0002c0003t0001g0177 a0002c0003t0001g0178 others(3): Show |
6 | 55 | 0.1091 | -9 | c.168 others(26): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76544407 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp1 HG03209.hp1 others(5): Show |
a0001a0012a0013others(2): Show | a0001c0001a0001c0035a0012c0010others(3): Show | a0001c0001t0002a0001c0001t0020a0001c0035t0002others(4): Show | a0001c0001t0002g0185 a0001c0001t0020g0067 a0001c0035t0002g0032 others(5): Show |
8 | 131 | 0.0611 | -9 | c.169 others(28): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76573381 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0015a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0038 a0001c0001t0002g0140 others(14): Show |
17 | 55 | 0.3091 | -9 | c.323 others(28): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76746781 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG03540.hp2 NA18522.hp1 |
a0001a0011a0022 | a0001c0035a0011c0037a0022c0041 | a0001c0035t0002a0011c0037t0017a0022c0041t0013 | a0001c0035t0002g0032 a0011c0037t0017g0176 a0022c0041t0013g0097 |
3 | 36 | 0.0833 | -9 | c.375 others(28): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76786665 | CCCATCAG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG03453.hp1 HG03516.hp1 |
a0001a0005 | a0001c0036a0005c0011 | a0001c0036t0025a0005c0011t0013a0005c0011t0034 | a0001c0036t0025g0184 a0005c0011t0013g0031 a0005c0011t0034g0144 |
3 | 216 | 0.0139 | -9 | c.*74 others(20): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 3413 | chr4 | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50795042 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(121): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0013a0001c0016others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 others(121): Show |
124 | 173 | 0.7168 | -9 | c.117 others(28): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50795092 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG03579.hp1 |
a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0100 a0005c0006t0005g0140 a0005c0006t0005g0141 |
3 | 173 | 0.0173 | -9 | c.117 others(28): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SHTN1_chr10_116876477_117010187 | 116963035 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01496.hp1 HG01928.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0002g0244 a0001c0001t0003g0240 others(7): Show |
10 | 13 | 0.7692 | -9 | c.173 others(26): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 3/16 | chr10 | TogoVar | |||||||
SIAH1_chr16_48355531_48390413 | 48359093 | TTCTTCTG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01071.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0134 a0001c0001t0003g0022 |
2 | 254 | 0.0079 | -9 | c.*24 others(20): Show |
SIAH1 | ENSG00000196470.12 | transcript | ENST00000394725.3 | protein_coding | 1437 | chr16 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 407271 | TGCGGGGT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(222): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(180): Show |
225 | 240 | 0.9375 | -9 | c.626 others(24): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 6/9 | chr11 | TogoVar | |||||||
SIGLEC7_chr19_51137301_51158526 | 51157637 | TTACTTCC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0050 a0001c0002t0001g0022 a0001c0002t0001g0056 |
4 | 402 | 0.0100 | -9 | c.*43 others(20): Show |
SIGLEC7 | ENSG00000168995.13 | transcript | ENST00000317643.10 | protein_coding | 4112 | chr19 | TogoVar | |||||||
SIK1_chr21_43409483_43432131 | 43410223 | TCCTCCCT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0007a0002c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0003t0007g0006 a0002c0002t0002g0001 others(3): Show |
12 | 32 | 0.3750 | -9 | c.*65 others(20): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 4259 | chr21 | TogoVar | |||||||
SIK1_chr21_43409483_43432131 | 43426970 | CCCGCCGC others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02572.hp1 others(7): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0002c0002t0010a0004c0005t0008 | a0002c0002t0002g0001 a0002c0002t0002g0015 a0002c0002t0002g0016 others(2): Show |
10 | 32 | 0.3125 | -9 | c.-15 others(22): Show |
SIK1 | ENSG00000142178.9 | transcript | ENST00000270162.8 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116858282 | TTGCTGTT others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG02486.hp1 HG02630.hp2 HG02895.hp1 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0008 | a0005c0007t0008g0038 a0005c0007t0008g0061 a0005c0007t0008g0077 others(1): Show |
4 | 364 | 0.0110 | -9 | c.317 others(18): Show |
p.Gln others(15): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 21/25 | 3195/6364 | 3174/4110 | 1058/1369 | chr11 | TogoVar | |||
SIK3_chr11_116838402_117103428 | 116922907 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp1 others(44): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(7): Show | a0001c0001t0001g0296 a0001c0001t0001g0360 a0001c0001t0003g0313 others(44): Show |
47 | 238 | 0.1975 | -9 | c.616 others(26): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117002404 | TTAAGGGA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00738.hp2 others(41): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0002a0001c0026others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0024others(4): Show | a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 others(41): Show |
44 | 364 | 0.1209 | -9 | c.274 others(28): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 138944314 | AGCTCCAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0197 |
2 | 195 | 0.0103 | -9 | c.*27 others(20): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 2409 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412546 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG02145.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0025others(3): Show | a0001c0001t0005g0074 a0001c0001t0005g0091 a0001c0001t0005g0092 others(9): Show |
12 | 318 | 0.0377 | -9 | c.116 others(28): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412628 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG02074.hp1 HG03017.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0059 | a0001c0001t0005g0026 a0001c0001t0005g0189 a0001c0001t0005g0220 others(2): Show |
5 | 318 | 0.0157 | -9 | c.116 others(28): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36702606 | ACTGGTCA others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0027 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0009g0388 others(1): Show |
4 | 408 | 0.0098 | -9 | c.175 others(26): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176267733 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0057 a0001c0001t0001g0267 a0001c0001t0001g0269 others(5): Show |
8 | 55 | 0.1455 | -9 | c.130 others(28): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIPA1L2_chr1_232392965_232635133 | 232525401 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02451.hp1 others(4): Show |
a0008 | a0008c0014a0008c0071 | a0008c0014t0012a0008c0014t0013a0008c0014t0015others(2): Show | a0008c0014t0012g0229 a0008c0014t0012g0273 a0008c0014t0013g0274 others(4): Show |
7 | 55 | 0.1273 | -9 | c.-26 others(28): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232541854 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(52): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(33): Show | a0001c0001t0001g0093 a0001c0002t0001g0144 a0001c0002t0001g0185 others(52): Show |
55 | 105 | 0.5238 | -9 | c.-26 others(30): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIRPA_chr20_1890407_1945592 | 1903011 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01358.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0301 others(4): Show |
7 | 230 | 0.0304 | -9 | c.79+ others(24): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRT6_chr19_4169109_4187563 | 4180093 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG02080.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0016 a0001c0001t0003g0043 others(1): Show |
32 | 98 | 0.3265 | -9 | c.194 others(24): Show |
SIRT6 | ENSG00000077463.15 | transcript | ENST00000337491.7 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
SKA2_chr17_59104857_59160186 | 59121793 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(7): Show | a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0012 others(46): Show |
55 | 112 | 0.4911 | -9 | c.121 others(26): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
SKA3_chr13_21148595_21181552 | 21150909 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(72): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 others(36): Show |
75 | 106 | 0.7075 | -9 | c.*42 others(20): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 2685 | chr13 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48321347 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG03195.hp2 HG03540.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0150 others(4): Show |
7 | 101 | 0.0693 | -9 | c.280 others(28): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48371654 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0060 others(6): Show |
9 | 36 | 0.2500 | -9 | c.153 others(26): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26749745 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(142): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 others(142): Show |
145 | 209 | 0.6938 | -9 | c.308 others(26): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26820443 | GATTATCT others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00642.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0002g0003 a0001c0001t0002g0207 a0001c0001t0002g0208 others(52): Show |
56 | 294 | 0.1905 | -9 | c.307 others(28): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2225252 | CACCAGAG others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG03098.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0007g0306 others(4): Show |
7 | 328 | 0.0213 | -9 | c.-35 others(20): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 3066 | chr1 | TogoVar | |||||||
SKP1_chr5_134143935_134181950 | 134164322 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0011others(12): Show | a0001c0001t0004g0017 a0001c0001t0004g0039 a0001c0001t0004g0041 others(34): Show |
48 | 138 | 0.3478 | -9 | c.171 others(26): Show |
SKP1 | ENSG00000113558.19 | transcript | ENST00000353411.11 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48362499 | ACCTCTGA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00733.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0002c0010t0001 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(11): Show |
14 | 346 | 0.0405 | -9 | c.390 others(26): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |