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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTBN1_chr2_54451327_54676446 | 54668680 | AT | A | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG03491.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0010a0001c0001t0022a0001c0004t0010others(1): Show | a0001c0001t0010g0238 a0001c0001t0022g0118 a0001c0001t0022g0164 others(5): Show |
8 | 370 | 0.0216 | -1 | c.*12 others(5): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 36/36 | 126 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPTBN1_chr2_54451327_54676446 | 54668788 | AT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0009others(14): Show | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(68): Show |
71 | 370 | 0.1919 | -1 | c.*22 others(5): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 36/36 | 229 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPTBN1_chr2_54451327_54676446 | 54671884 | GT | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp1 others(82): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0018others(25): Show | a0001c0001t0004g0001 a0001c0001t0004g0070 a0001c0001t0004g0091 others(82): Show |
85 | 370 | 0.2297 | -1 | c.*33 others(6): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 439 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54674175 | TC | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(76): Show |
a0001a0005a0010others(1): Show | a0001c0002a0001c0003a0001c0007others(6): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0028others(9): Show | a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 others(76): Show |
79 | 370 | 0.2135 | -1 | c.*56 others(6): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2730 | chr2 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66678987 | CA | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG03098.hp2 others(5): Show |
a0001a0002a0019 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0006t0009a0002c0002t0018others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0006t0009g0205 others(5): Show |
8 | 328 | 0.0244 | -1 | c.*68 others(6): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 3509 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66681683 | AT | A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01256.hp2 HG01884.hp2 others(20): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0010a0001c0019others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0177 a0001c0001t0003g0007 a0001c0001t0003g0123 others(16): Show |
23 | 328 | 0.0701 | -1 | c.*41 others(6): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 813 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66683548 | AT | A | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01934.hp1 HG02630.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0018 a0002c0002t0005g0039 a0002c0002t0005g0124 others(6): Show |
10 | 328 | 0.0305 | -1 | c.*23 others(6): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 38/38 | 2322 | chr11 | TogoVar | ||||||
SPTBN2_chr11_66677497_66734216 | 66684634 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01168.hp2 others(11): Show |
a0001a0002a0019 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0012a0001c0001t0021a0001c0001t0034others(6): Show | a0001c0001t0012g0140 a0001c0001t0012g0157 a0001c0001t0012g0185 others(11): Show |
14 | 328 | 0.0427 | -1 | c.*12 others(6): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 38/38 | 1236 | chr11 | TogoVar | ||||||
SPTBN2_chr11_66677497_66734216 | 66687443 | TC | T | frameshift_variant | HIGH | NA18962.hp2 | a0019 | a0019c0032 | a0019c0032t0012 | a0019c0032t0012g0171 | 1 | 328 | 0.0031 | -1 | c.670 others(5): Show |
p.Lys others(6): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 35/38 | 7294/11136 | 6705/7173 | 2235/2390 | chr11 | TogoVar | |||
SPTBN2_chr11_66677497_66734216 | 66699023 | TC | T | frameshift_variant | HIGH | NA19062.hp1 | a0022 | a0022c0022 | a0022c0022t0002 | a0022c0022t0002g0049 | 1 | 328 | 0.0031 | -1 | c.383 others(5): Show |
p.Glu others(6): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 19/38 | 4424/11136 | 3835/7173 | 1279/2390 | chr11 | TogoVar | |||
SPTBN2_chr11_66677497_66734216 | 66701139 | AG | A | frameshift_variant | HIGH | NA19068.hp1 | a0023 | a0023c0041 | a0023c0041t0003 | a0023c0041t0003g0118 | 1 | 328 | 0.0031 | -1 | c.295 others(5): Show |
p.Leu others(5): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 17/38 | 3548/11136 | 2959/7173 | 987/2390 | chr11 | TogoVar | |||
SPTBN2_chr11_66677497_66734216 | 66703972 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(96): Show |
a0001a0002a0014others(3): Show | a0001c0001a0001c0006a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0023 others(76): Show |
99 | 328 | 0.3018 | -1 | c.267 others(9): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 15/37 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66710393 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00621.hp2 others(61): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0010a0001c0019others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(22): Show | a0001c0001t0001g0216 a0001c0001t0001g0268 a0001c0001t0003g0007 others(54): Show |
64 | 328 | 0.1951 | -1 | c.107 others(9): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 10/37 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66716659 | TG | T | intron_variant | MODIFIER | HG00621.hp1 HG02080.hp2 NA18946.hp1 others(3): Show |
a0001a0024 | a0001c0001a0024c0024 | a0001c0001t0002a0024c0024t0002 | a0001c0001t0002g0005 a0001c0001t0002g0132 a0024c0024t0002g0133 |
6 | 328 | 0.0183 | -1 | c.158 others(8): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 3/37 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66722378 | TC | T | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG01516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009a0001c0038 | a0001c0001t0004a0001c0009t0002a0001c0038t0002 | a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0009t0002g0236 others(1): Show |
4 | 328 | 0.0122 | -1 | c.-11 others(9): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 1/37 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66722575 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(213): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0023 others(164): Show |
216 | 328 | 0.6585 | -1 | c.-11 others(10): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 1/37 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66722892 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG02056.hp1 HG02165.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(7): Show |
11 | 328 | 0.0335 | -1 | c.-11 others(10): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 1/37 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66732651 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(164): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0005a0001c0006others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0023 others(136): Show |
167 | 328 | 0.5092 | -1 | c.-40 others(6): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 3436 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66732981 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(194): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0006a0001c0009others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0023 others(158): Show |
197 | 328 | 0.6006 | -1 | c.-43 others(6): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 3766 | chr11 | TogoVar | |||||||
SPTBN2_chr11_66677497_66734216 | 66733984 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(135): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0146 a0001c0001t0001g0150 others(119): Show |
138 | 328 | 0.4207 | -1 | c.-53 others(6): Show |
SPTBN2 | ENSG00000173898.15 | transcript | ENST00000533211.6 | protein_coding | 4769 | chr11 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40462279 | CT | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01168.hp2 HG02451.hp2 others(3): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0005a0003c0006others(3): Show | a0001c0001t0001a0003c0005t0002a0003c0006t0001others(3): Show | a0001c0001t0001g0092 a0003c0005t0002g0208 a0003c0006t0001g0215 others(3): Show |
6 | 234 | 0.0256 | -1 | c.-50 others(6): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 4721 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40462892 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp1 others(60): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0008others(24): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(27): Show | a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0064 others(60): Show |
63 | 234 | 0.2692 | -1 | c.-44 others(6): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 4108 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40463202 | GC | G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp2 others(24): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(9): Show | a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0072 others(24): Show |
27 | 234 | 0.1154 | -1 | c.-41 others(6): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 3798 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40467623 | CG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00738.hp2 others(26): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0042others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(19): Show | a0001c0001t0001g0021 a0001c0001t0001g0180 a0001c0001t0001g0184 others(26): Show |
29 | 234 | 0.1239 | -1 | c.-16 others(8): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40469260 | CT | C | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02922.hp2 others(2): Show |
a0004a0005a0007 | a0004c0014a0005c0009a0007c0013 | a0004c0014t0001a0005c0009t0001a0007c0013t0001 | a0004c0014t0001g0058 a0004c0014t0001g0146 a0005c0009t0001g0148 others(2): Show |
5 | 234 | 0.0214 | -1 | c.-16 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40470955 | CT | C | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01891.hp2 others(5): Show |
a0004a0005a0011 | a0004c0007a0004c0016a0005c0009others(2): Show | a0004c0007t0001a0004c0007t0003a0004c0016t0001others(3): Show | a0004c0007t0001g0004 a0004c0007t0003g0002 a0004c0016t0001g0003 others(5): Show |
8 | 234 | 0.0342 | -1 | c.-15 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40471905 | AT | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02559.hp2 others(6): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0184 a0001c0002t0001g0022 a0001c0002t0001g0076 others(6): Show |
9 | 234 | 0.0385 | -1 | c.-15 others(8): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40474151 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0008others(41): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(43): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(122): Show |
125 | 234 | 0.5342 | -1 | c.169 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40476345 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01070.hp1 others(62): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0008others(22): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(26): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0074 others(62): Show |
65 | 234 | 0.2778 | -1 | c.169 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40480251 | CA | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02717.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0003others(4): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0001others(5): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0008t0001g0046 others(13): Show |
16 | 234 | 0.0684 | -1 | c.170 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40485805 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01109.hp1 others(40): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(40): Show |
43 | 234 | 0.1838 | -1 | c.170 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40489369 | GA | G | intron_variant | MODIFIER | HG01255.hp1 HG01358.hp1 HG02572.hp2 others(5): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0005a0006c0044others(2): Show | a0001c0001t0001a0003c0005t0001a0006c0044t0001others(2): Show | a0001c0001t0001g0028 a0001c0001t0001g0067 a0003c0005t0001g0059 others(5): Show |
8 | 234 | 0.0342 | -1 | c.322 others(8): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 3/35 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40491713 | CA | C | intron_variant | MODIFIER | HG03491.hp1 HG03704.hp1 HG04115.hp1 others(2): Show |
a0004a0005a0026 | a0004c0007a0005c0009a0026c0029 | a0004c0007t0001a0005c0009t0001a0026c0029t0001 | a0004c0007t0001g0173 a0004c0007t0001g0192 a0005c0009t0001g0144 others(2): Show |
5 | 234 | 0.0214 | -1 | c.496 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40492029 | AC | A | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp1 HG02615.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0010a0002c0003others(4): Show | a0001c0002t0003a0001c0010t0001a0002c0003t0001others(4): Show | a0001c0002t0003g0163 a0001c0010t0001g0093 a0002c0003t0001g0182 others(6): Show |
9 | 234 | 0.0385 | -1 | c.496 others(8): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 4/35 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40492040 | AC | A | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp1 HG02615.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0010a0002c0003others(4): Show | a0001c0002t0003a0001c0010t0001a0001c0010t0008others(5): Show | a0001c0002t0003g0163 a0001c0010t0001g0093 a0001c0010t0008g0075 others(7): Show |
10 | 234 | 0.0427 | -1 | c.496 others(8): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 4/35 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40497072 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(40): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0008a0001c0010others(20): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(22): Show | a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0037 others(40): Show |
43 | 234 | 0.1838 | -1 | c.669 others(8): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 6/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40503040 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG01516.hp2 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0004others(6): Show | a0001c0001t0001a0001c0010t0001a0001c0010t0008others(7): Show | a0001c0001t0001g0027 a0001c0001t0001g0074 a0001c0001t0001g0097 others(21): Show |
24 | 234 | 0.1026 | -1 | c.136 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 11/35 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40505221 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00621.hp1 others(107): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0008others(32): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(36): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0028 others(107): Show |
110 | 234 | 0.4701 | -1 | c.166 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40505382 | CA | C | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02132.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0010a0002c0004others(2): Show | a0001c0001t0001a0001c0010t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0114 a0001c0001t0001g0134 others(5): Show |
8 | 234 | 0.0342 | -1 | c.166 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40509085 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(49): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0010others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(18): Show | a0001c0001t0001g0027 a0001c0001t0001g0074 a0001c0001t0001g0097 others(49): Show |
52 | 234 | 0.2222 | -1 | c.181 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40509408 | GC | G | intron_variant | MODIFIER | HG02109.hp2 HG03209.hp2 |
a0001a0004 | a0001c0002a0004c0014 | a0001c0002t0001a0004c0014t0001 | a0001c0002t0001g0083 a0004c0014t0001g0055 |
2 | 234 | 0.0086 | -1 | c.181 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 13/35 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40511249 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(117): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0008a0001c0010others(38): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(45): Show | a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0037 others(117): Show |
120 | 234 | 0.5128 | -1 | c.181 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40513043 | CG | C | frameshift_variant | HIGH | NA18946.hp1 | a0027 | a0027c0054 | a0027c0054t0001 | a0027c0054t0001g0026 | 1 | 234 | 0.0043 | -1 | c.225 others(5): Show |
p.Arg others(5): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 14/36 | 2576/8910 | 2256/7695 | 752/2564 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SPTBN4_chr19_40462001_40581464 | 40513306 | CG | C | frameshift_variant | HIGH | NA18946.hp1 | a0027 | a0027c0054 | a0027c0054t0001 | a0027c0054t0001g0026 | 1 | 234 | 0.0043 | -1 | c.252 others(5): Show |
p.Gly others(5): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 14/36 | 2842/8910 | 2522/7695 | 841/2564 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SPTBN4_chr19_40462001_40581464 | 40515400 | AC | A | frameshift_variant | HIGH | NA18946.hp1 | a0027 | a0027c0054 | a0027c0054t0001 | a0027c0054t0001g0026 | 1 | 234 | 0.0043 | -1 | c.285 others(5): Show |
p.Ser others(5): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 15/36 | 3179/8910 | 2859/7695 | 953/2564 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SPTBN4_chr19_40462001_40581464 | 40516237 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(78): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0008others(25): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(28): Show | a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0002t0001g0017 others(78): Show |
81 | 234 | 0.3462 | -1 | c.290 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 15/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40522348 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01074.hp1 others(55): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0002c0003others(14): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0001others(16): Show | a0001c0001t0001g0150 a0001c0008t0001g0046 a0001c0008t0001g0060 others(55): Show |
58 | 234 | 0.2479 | -1 | c.365 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 16/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40525320 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01123.hp1 others(46): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0010a0001c0050others(18): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(21): Show | a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0037 others(46): Show |
49 | 234 | 0.2094 | -1 | c.385 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40526167 | CT | C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00738.hp1 others(26): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0027 others(26): Show |
29 | 234 | 0.1239 | -1 | c.385 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40528055 | CA | C | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG02895.hp1 others(2): Show |
a0001a0004a0006 | a0001c0001a0001c0008a0004c0007others(1): Show | a0001c0001t0001a0001c0008t0001a0004c0007t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0008t0001g0060 others(2): Show |
5 | 234 | 0.0214 | -1 | c.385 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |