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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIK2_chr11_111597449_111735855 | 111692350 | CAAAAA | C | intron_variant | MODIFIER | HG01169.hp1 HG01255.hp2 HG01258.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0019 others(27): Show |
30 | 198 | 0.1515 | -5 | c.478 others(22): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111726517 | GCTTAT | G | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0116 a0001c0001t0014g0117 |
2 | 198 | 0.0101 | -5 | c.*23 others(16): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 15/15 | 2392 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SIK3_chr11_116838402_117103428 | 116868010 | GCCGTT | G | frameshift_variant | HIGH | NA18974.hp1 | a0018 | a0018c0029 | a0018c0029t0003 | a0018c0029t0003g0302 | 1 | 366 | 0.0027 | -5 | c.188 others(14): Show |
p.Gln others(5): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 15/25 | 1900/6364 | 1883/4110 | 628/1369 | chr11 | TogoVar | |||
SIK3_chr11_116838402_117103428 | 116914077 | CTTAGA | C | intron_variant | MODIFIER | HG03831.hp1 HG04228.hp2 NA20752.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0220 others(1): Show |
4 | 366 | 0.0109 | -5 | c.616 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116917827 | GAAGGA | G | intron_variant | MODIFIER | HG01175.hp1 HG01934.hp2 HG02630.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0009 | a0001c0002t0003g0174 a0002c0003t0009g0309 a0002c0003t0009g0324 |
3 | 366 | 0.0082 | -5 | c.616 others(22): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116922905 | CTCTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01074.hp2 others(26): Show |
a0001a0011a0019others(1): Show | a0001c0001a0011c0017a0019c0026others(1): Show | a0001c0001t0002a0001c0001t0004a0011c0017t0002others(2): Show | a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0134 others(26): Show |
29 | 366 | 0.0792 | -5 | c.616 others(22): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 4/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938204 | AGAGGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(181): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(23): Show | a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0187 others(181): Show |
184 | 366 | 0.5027 | -5 | c.455 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938259 | AGAGAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(95): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(10): Show | a0001c0001t0001g0041 a0001c0001t0001g0094 a0001c0001t0001g0173 others(95): Show |
98 | 366 | 0.2678 | -5 | c.455 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938346 | CGGGAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp2 others(69): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0181 a0001c0001t0001g0256 a0001c0001t0001g0257 others(69): Show |
72 | 366 | 0.1967 | -5 | c.455 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938378 | GGAGGA | G | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG02895.hp1 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0017 a0005c0007t0010g0040 a0005c0007t0010g0056 others(1): Show |
4 | 366 | 0.0109 | -5 | c.455 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938460 | GGAGGA | G | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01433.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0022a0001c0002t0005others(3): Show | a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0215 others(21): Show |
24 | 366 | 0.0656 | -5 | c.455 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938538 | AAGGGG | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(86): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0002a0001c0020others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(16): Show | a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0049 others(86): Show |
89 | 366 | 0.2432 | -5 | c.455 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938597 | GGAGGA | G | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003a0001c0002t0029 | a0001c0001t0002g0096 a0001c0002t0003g0004 a0001c0002t0003g0283 others(4): Show |
7 | 366 | 0.0191 | -5 | c.455 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938612 | AGAGGG | A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01884.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0003a0002c0004others(4): Show | a0001c0002t0005a0001c0002t0015a0002c0003t0008others(5): Show | a0001c0002t0005g0025 a0001c0002t0005g0027 a0001c0002t0005g0312 others(14): Show |
17 | 366 | 0.0465 | -5 | c.455 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116938622 | GGAGGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(73): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0281 a0001c0001t0002g0031 a0001c0001t0002g0039 others(73): Show |
76 | 366 | 0.2077 | -5 | c.455 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116947565 | ATGTAT | A | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG02615.hp1 others(11): Show |
a0001a0003 | a0001c0002a0003c0005a0003c0014 | a0001c0002t0005a0001c0002t0015a0003c0005t0005others(1): Show | a0001c0002t0005g0024 a0001c0002t0005g0025 a0001c0002t0005g0027 others(11): Show |
14 | 366 | 0.0383 | -5 | c.454 others(22): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116950781 | CCTGCG | C | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01106.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0008 | a0002c0003t0001g0338 a0002c0003t0001g0341 a0002c0003t0001g0342 others(2): Show |
5 | 366 | 0.0137 | -5 | c.454 others(22): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116984050 | CAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02109.hp2 others(3): Show |
a0004a0014 | a0004c0006a0014c0031 | a0004c0006t0008a0014c0031t0008 | a0004c0006t0008g0344 a0004c0006t0008g0346 a0004c0006t0008g0347 others(3): Show |
6 | 366 | 0.0164 | -5 | c.274 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117008075 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01069.hp1 others(49): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0049 a0001c0001t0001g0332 a0001c0001t0001g0333 others(49): Show |
52 | 366 | 0.1421 | -5 | c.274 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117021928 | CAAAAA | C | intron_variant | MODIFIER | HG00597.hp1 HG01123.hp1 HG02559.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0005others(3): Show | a0001c0001t0001g0225 a0001c0001t0001g0243 a0001c0001t0001g0253 others(17): Show |
20 | 366 | 0.0546 | -5 | c.274 others(24): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 138987082 | ATTATT | A | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01261.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0088 others(15): Show |
18 | 200 | 0.0900 | -5 | c.767 others(24): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139025172 | CTTGAT | C | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02723.hp1 others(3): Show |
a0002 | a0002c0003a0002c0006 | a0002c0003t0001a0002c0006t0001 | a0002c0003t0001g0034 a0002c0003t0001g0134 a0002c0003t0001g0160 others(3): Show |
6 | 200 | 0.0300 | -5 | c.645 others(22): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 6/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139028495 | CACAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01081.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0177 others(26): Show |
29 | 200 | 0.1450 | -5 | c.454 others(22): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139098809 | CTTTTT | C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02559.hp1 others(7): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0012 | a0001c0001t0001a0001c0002t0001a0006c0012t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032 others(7): Show |
10 | 200 | 0.0500 | -5 | c.244 others(24): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100398958 | TGTATG | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0003g0033 a0001c0001t0005g0032 a0001c0001t0005g0045 others(22): Show |
25 | 320 | 0.0781 | -5 | c.116 others(24): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100402565 | CTCTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(3): Show | a0001c0001t0003g0033 a0001c0001t0003g0214 a0001c0001t0005g0032 others(24): Show |
27 | 320 | 0.0844 | -5 | c.116 others(24): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412550 | GAAAGA | G | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01361.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0008a0001c0001t0015others(3): Show | a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0008g0087 others(4): Show |
7 | 320 | 0.0219 | -5 | c.116 others(24): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412632 | GAAAGA | G | intron_variant | MODIFIER | HG01256.hp2 HG02129.hp1 NA18979.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0099 a0001c0001t0005g0139 a0001c0001t0005g0204 others(1): Show |
4 | 320 | 0.0125 | -5 | c.116 others(24): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412738 | AGAAAG | A | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG01361.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0026others(1): Show | a0001c0001t0004g0041 a0001c0001t0004g0198 a0001c0001t0004g0199 others(7): Show |
10 | 320 | 0.0313 | -5 | c.116 others(24): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100463196 | ATATGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0002g0186 a0001c0001t0002g0193 a0001c0001t0002g0195 others(142): Show |
146 | 320 | 0.4563 | -5 | c.175 others(18): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36749444 | CTGACT | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00735.hp2 others(109): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0022a0001c0001t0028others(20): Show | a0001c0001t0002g0117 a0001c0001t0002g0210 a0001c0001t0022g0121 others(101): Show |
112 | 410 | 0.2732 | -5 | c.*13 others(16): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 11/11 | 1354 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
SIMC1_chr5_176233424_176350989 | 176259966 | ATATAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | 360 | 0.0111 | -5 | c.129 others(24): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176267733 | GTTTTT | G | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01074.hp2 others(30): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0005others(1): Show | a0001c0001t0001a0003c0004t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(30): Show |
33 | 360 | 0.0917 | -5 | c.130 others(24): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176271916 | GTATAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(133): Show |
a0001a0003a0008others(4): Show | a0001c0001a0001c0011a0003c0004others(5): Show | a0001c0001t0001a0001c0011t0001a0003c0004t0001others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(133): Show |
136 | 360 | 0.3778 | -5 | c.130 others(24): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176272004 | GTAATA | G | intron_variant | MODIFIER | HG00621.hp1 HG02071.hp1 HG02155.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0216 others(2): Show |
5 | 360 | 0.0139 | -5 | c.130 others(24): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176303896 | ATTAAC | A | intron_variant | MODIFIER | HG00544.hp2 HG02027.hp2 NA18943.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0049 others(11): Show |
14 | 360 | 0.0389 | -5 | c.173 others(24): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176305166 | AGCCGT | A | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(1): Show |
4 | 360 | 0.0111 | -5 | c.173 others(24): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176305710 | GGGGTC | G | intron_variant | MODIFIER | HG01175.hp2 HG01952.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(6): Show |
9 | 360 | 0.0250 | -5 | c.173 others(24): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
SIN3A_chr15_75364379_75456690 | 75376859 | TAAAAA | T | intron_variant | MODIFIER | HG01261.hp1 HG02165.hp1 HG02523.hp2 others(21): Show |
a0001a0004a0006 | a0001c0001a0004c0012a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0201 others(19): Show |
24 | 324 | 0.0741 | -5 | c.338 others(22): Show |
SIN3A | ENSG00000169375.17 | transcript | ENST00000394947.8 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
SIN3A_chr15_75364379_75456690 | 75442120 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(11): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0008t0001 | a0001c0001t0001g0150 a0001c0001t0001g0260 a0001c0001t0001g0283 others(11): Show |
14 | 324 | 0.0432 | -5 | c.-34 others(22): Show |
SIN3A | ENSG00000169375.17 | transcript | ENST00000394947.8 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
SIN3B_chr19_16824398_16885349 | 16875158 | GGGTCT | G | intron_variant | MODIFIER | HG01346.hp2 HG01515.hp1 HG01516.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0020t0001g0035 |
3 | 372 | 0.0081 | -5 | c.259 others(22): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16875552 | TTGGTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02572.hp1 others(6): Show |
a0001a0004a0010 | a0001c0001a0004c0009a0010c0030 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0139 a0001c0001t0002g0157 a0001c0001t0002g0158 others(6): Show |
9 | 372 | 0.0242 | -5 | c.259 others(22): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16875644 | TTGGTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02723.hp2 others(5): Show |
a0001a0004a0021 | a0001c0001a0004c0009a0021c0029 | a0001c0001t0002a0001c0001t0010a0004c0009t0002others(1): Show | a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 others(5): Show |
8 | 372 | 0.0215 | -5 | c.259 others(22): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16875774 | TTGGTC | T | intron_variant | MODIFIER | HG01243.hp1 NA18986.hp1 NA19055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0127 a0001c0001t0002g0269 a0001c0001t0005g0221 others(3): Show |
7 | 372 | 0.0188 | -5 | c.259 others(22): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16875856 | TTGGTC | T | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0113 a0001c0001t0002g0323 others(5): Show |
9 | 372 | 0.0242 | -5 | c.259 others(22): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SINHCAF_chr12_31275584_31331150 | 31297467 | ATTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00621.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0256 a0001c0001t0004g0030 a0001c0001t0004g0301 others(7): Show |
11 | 349 | 0.0315 | -5 | c.128 others(20): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 2/5 | chr12 | TogoVar | |||||||
SINHCAF_chr12_31275584_31331150 | 31314301 | GATCAC | G | intron_variant | MODIFIER | HG00280.hp1 HG01071.hp2 HG01978.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show |
6 | 349 | 0.0172 | -5 | c.-21 others(24): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71438140 | TAAACA | T | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0003 | a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0004g0153 others(3): Show |
6 | 174 | 0.0345 | -5 | c.-46 others(26): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71464642 | AAAAAC | A | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG03834.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0002a0006c0012t0002 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0002g0095 others(1): Show |
4 | 174 | 0.0230 | -5 | c.-46 others(26): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71470507 | GTTAAT | G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0037 |
2 | 174 | 0.0115 | -5 | c.-46 others(26): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |