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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTBN4_chr19_40462001_40581464 | 40528076 | AG | A | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 HG03139.hp1 others(1): Show |
a0002 | a0002c0015a0002c0046 | a0002c0015t0001a0002c0046t0001 | a0002c0015t0001g0089 a0002c0015t0001g0135 a0002c0015t0001g0179 others(1): Show |
4 | 234 | 0.0171 | -1 | c.385 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40531464 | GT | G | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02572.hp1 others(10): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0064 a0001c0001t0001g0113 a0001c0002t0001g0086 others(10): Show |
13 | 234 | 0.0556 | -1 | c.394 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 18/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40532288 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(159): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0008others(44): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(52): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0027 others(159): Show |
162 | 234 | 0.6923 | -1 | c.394 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 18/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40535560 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00642.hp1 others(66): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0010a0002c0003others(18): Show | a0001c0001t0001a0001c0010t0008a0002c0003t0001others(21): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0027 others(66): Show |
69 | 234 | 0.2949 | -1 | c.435 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40544127 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01070.hp2 others(58): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0010a0001c0012others(23): Show | a0001c0001t0001a0001c0010t0001a0001c0012t0001others(27): Show | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0038 others(58): Show |
61 | 234 | 0.2607 | -1 | c.436 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40544223 | AC | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02723.hp2 |
a0001a0004a0022 | a0001c0042a0004c0007a0022c0052 | a0001c0042t0001a0004c0007t0010a0022c0052t0001 | a0001c0042t0001g0024 a0004c0007t0010g0136 a0022c0052t0001g0023 |
3 | 234 | 0.0128 | -1 | c.436 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40546049 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(112): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0008others(22): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(27): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(112): Show |
115 | 234 | 0.4915 | -1 | c.436 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40546225 | CA | C | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01074.hp2 others(42): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0008others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(14): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 others(42): Show |
45 | 234 | 0.1923 | -1 | c.436 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40547034 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00741.hp2 others(89): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0008others(32): Show | a0001c0001t0001a0001c0002t0003a0001c0008t0001others(36): Show | a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0002t0003g0163 others(89): Show |
92 | 234 | 0.3932 | -1 | c.436 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40550504 | AT | A | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01074.hp2 others(41): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0001c0008others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(15): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0027 others(41): Show |
44 | 234 | 0.1880 | -1 | c.467 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 22/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40552455 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00621.hp2 others(90): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0008others(31): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(37): Show | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0047 others(90): Show |
93 | 234 | 0.3974 | -1 | c.467 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 22/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40555489 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00738.hp2 others(84): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0008others(29): Show | a0001c0001t0001a0001c0002t0003a0001c0008t0001others(32): Show | a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0199 others(84): Show |
87 | 234 | 0.3718 | -1 | c.508 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 24/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40556996 | AC | A | intron_variant | MODIFIER | HG00140.hp1 HG01517.hp1 HG02109.hp1 others(15): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0008a0001c0042others(9): Show | a0001c0001t0001a0001c0008t0001a0001c0042t0001others(11): Show | a0001c0001t0001g0201 a0001c0008t0001g0046 a0001c0042t0001g0024 others(15): Show |
18 | 234 | 0.0769 | -1 | c.529 others(8): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 25/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40557918 | CA | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02723.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0042a0003c0019others(2): Show | a0001c0001t0001a0001c0042t0001a0003c0019t0001others(2): Show | a0001c0001t0001g0114 a0001c0001t0001g0204 a0001c0042t0001g0024 others(4): Show |
7 | 234 | 0.0299 | -1 | c.567 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 26/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40561245 | TC | T | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp1 |
a0005a0023 | a0005c0009a0023c0055 | a0005c0009t0001a0023c0055t0001 | a0005c0009t0001g0008 a0023c0055t0001g0121 |
2 | 234 | 0.0086 | -1 | c.591 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 27/35 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40561822 | CA | C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(2): Show |
a0001a0004a0012 | a0001c0001a0004c0007a0012c0059 | a0001c0001t0001a0004c0007t0001a0012c0059t0001 | a0001c0001t0001g0115 a0001c0001t0001g0128 a0004c0007t0001g0139 others(2): Show |
5 | 234 | 0.0214 | -1 | c.591 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 27/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40562529 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00738.hp2 others(74): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0010others(26): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(31): Show | a0001c0001t0001g0072 a0001c0001t0001g0217 a0001c0008t0001g0046 others(74): Show |
77 | 234 | 0.3291 | -1 | c.591 others(10): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 27/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40564834 | TA | T | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG03209.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0036a0004c0014others(2): Show | a0001c0001t0001a0002c0036t0001a0004c0014t0001others(2): Show | a0001c0001t0001g0114 a0002c0036t0001g0154 a0004c0014t0001g0055 others(2): Show |
5 | 234 | 0.0214 | -1 | c.591 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 27/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40566983 | AC | A | intron_variant | MODIFIER | HG00741.hp2 HG02738.hp2 HG02886.hp1 others(6): Show |
a0001a0008a0011 | a0001c0001a0001c0008a0008c0018others(2): Show | a0001c0001t0001a0001c0008t0001a0008c0018t0001others(2): Show | a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0067 others(6): Show |
9 | 234 | 0.0385 | -1 | c.633 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 30/35 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40569426 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00738.hp2 others(91): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0008others(36): Show | a0001c0001t0001a0001c0002t0003a0001c0008t0001others(40): Show | a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0217 others(91): Show |
94 | 234 | 0.4017 | -1 | c.695 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 31/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40570483 | CG | C | frameshift_variant | HIGH | NA19002.hp2 | a0028 | a0028c0049 | a0028c0049t0001 | a0028c0049t0001g0071 | 1 | 234 | 0.0043 | -1 | c.707 others(5): Show |
p.Glu others(6): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 33/36 | 7397/8910 | 7077/7695 | 2359/2564 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SPTBN4_chr19_40462001_40581464 | 40575014 | CA | C | intron_variant | MODIFIER | HG03209.hp1 HG03486.hp2 NA18948.hp2 others(2): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0005a0001c0008t0001others(2): Show | a0001c0001t0001g0114 a0001c0002t0005g0193 a0001c0008t0001g0151 others(2): Show |
5 | 234 | 0.0214 | -1 | c.753 others(9): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 35/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40576636 | GC | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00621.hp1 others(33): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0002c0004others(8): Show | a0001c0001t0001a0001c0008t0001a0002c0004t0001others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0027 others(33): Show |
36 | 234 | 0.1539 | -1 | c.*10 others(6): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 173 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40577087 | GC | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(106): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0008others(38): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(45): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0027 others(106): Show |
109 | 234 | 0.4658 | -1 | c.*15 others(6): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 624 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40580031 | CA | C | downstream_gene_variant | MODIFIER | HG01169.hp1 HG01175.hp1 HG01175.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0002t0003a0001c0008t0001others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0087 a0001c0001t0001g0201 others(10): Show |
13 | 234 | 0.0556 | -1 | c.*44 others(6): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 3568 | chr19 | TogoVar | |||||||
SPTBN5_chr15_41843146_41899053 | 41844838 | CT | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(125): Show |
a0001a0002a0004others(38): Show | a0001c0001a0001c0133a0002c0002others(46): Show | a0001c0001t0001a0001c0133t0001a0002c0002t0001others(49): Show | a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0178 others(110): Show |
128 | 396 | 0.3232 | -1 | c.*37 others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 3307 | chr15 | TogoVar | |||||||
SPTBN5_chr15_41843146_41899053 | 41847192 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0004others(113): Show | a0001c0001a0001c0105a0001c0117others(133): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(143): Show | a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0178 others(265): Show |
313 | 396 | 0.7904 | -1 | c.*14 others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 953 | chr15 | TogoVar | |||||||
SPTBN5_chr15_41843146_41899053 | 41868155 | TC | T | frameshift_variant | HIGH | NA18977.hp2 | a0127 | a0127c0097 | a0127c0097t0002 | a0127c0097t0002g0199 | 1 | 396 | 0.0025 | -1 | c.612 others(5): Show |
p.Lys others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 34/68 | 6324/11699 | 6120/11025 | 2040/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41870255 | GC | G | frameshift_variant | HIGH | NA18977.hp2 | a0127 | a0127c0097 | a0127c0097t0002 | a0127c0097t0002g0199 | 1 | 396 | 0.0025 | -1 | c.566 others(5): Show |
p.Gly others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 31/68 | 5864/11699 | 5660/11025 | 1887/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41870465 | TC | T | frameshift_variant | HIGH | NA18977.hp2 | a0127 | a0127c0097 | a0127c0097t0002 | a0127c0097t0002g0199 | 1 | 396 | 0.0025 | -1 | c.554 others(5): Show |
p.Glu others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 30/68 | 5746/11699 | 5542/11025 | 1848/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41871407 | GC | G | frameshift_variant | HIGH | NA18962.hp2 | a0124 | a0124c0159 | a0124c0159t0001 | a0124c0159t0001g0067 | 1 | 396 | 0.0025 | -1 | c.541 others(5): Show |
p.Gly others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 29/68 | 5618/11699 | 5414/11025 | 1805/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41871793 | CG | C | frameshift_variant | HIGH | NA18962.hp2 | a0124 | a0124c0159 | a0124c0159t0001 | a0124c0159t0001g0067 | 1 | 396 | 0.0025 | -1 | c.528 others(5): Show |
p.Glu others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 28/68 | 5493/11699 | 5289/11025 | 1763/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41871903 | TC | T | frameshift_variant | HIGH | NA18962.hp2 | a0124 | a0124c0159 | a0124c0159t0001 | a0124c0159t0001g0067 | 1 | 396 | 0.0025 | -1 | c.517 others(5): Show |
p.Glu others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 28/68 | 5383/11699 | 5179/11025 | 1727/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41871909 | TC | T | frameshift_variant | HIGH | NA18962.hp2 | a0124 | a0124c0159 | a0124c0159t0001 | a0124c0159t0001g0067 | 1 | 396 | 0.0025 | -1 | c.517 others(5): Show |
p.Glu others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 28/68 | 5377/11699 | 5173/11025 | 1725/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41871915 | TC | T | frameshift_variant others(1): Show |
HIGH | NA18962.hp2 | a0124 | a0124c0159 | a0124c0159t0001 | a0124c0159t0001g0067 | 1 | 396 | 0.0025 | -1 | c.516 others(5): Show |
p.Asp others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 28/68 | 5371/11699 | 5167/11025 | 1723/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41872373 | AG | A | frameshift_variant | HIGH | NA18962.hp2 | a0124 | a0124c0159 | a0124c0159t0001 | a0124c0159t0001g0067 | 1 | 396 | 0.0025 | -1 | c.509 others(5): Show |
p.Pro others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 27/68 | 5297/11699 | 5093/11025 | 1698/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41872392 | AG | A | frameshift_variant | HIGH | NA18962.hp2 | a0124 | a0124c0159 | a0124c0159t0001 | a0124c0159t0001g0067 | 1 | 396 | 0.0025 | -1 | c.507 others(5): Show |
p.Leu others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 27/68 | 5278/11699 | 5074/11025 | 1692/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41872407 | TG | T | frameshift_variant | HIGH | NA18962.hp2 | a0124 | a0124c0159 | a0124c0159t0001 | a0124c0159t0001g0067 | 1 | 396 | 0.0025 | -1 | c.505 others(5): Show |
p.Gln others(6): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 27/68 | 5263/11699 | 5059/11025 | 1687/3674 | chr15 | TogoVar | |||
SPTBN5_chr15_41843146_41899053 | 41883793 | CT | C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02486.hp1 others(19): Show |
a0007a0039a0040others(8): Show | a0007c0006a0007c0052a0039c0042others(9): Show | a0007c0006t0001a0007c0052t0001a0039c0042t0001others(9): Show | a0007c0006t0001g0011 a0007c0006t0001g0037 a0007c0006t0001g0312 others(16): Show |
22 | 396 | 0.0556 | -1 | c.152 others(9): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 7/67 | chr15 | TogoVar | |||||||
SPTBN5_chr15_41843146_41899053 | 41889417 | GA | G | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02258.hp2 others(6): Show |
a0009a0107 | a0009c0007a0107c0046 | a0009c0007t0002a0009c0007t0003a0107c0046t0002 | a0009c0007t0002g0002 a0009c0007t0003g0012 a0009c0007t0003g0041 others(2): Show |
9 | 396 | 0.0227 | -1 | c.501 others(8): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 4/67 | chr15 | TogoVar | |||||||
SPTBN5_chr15_41843146_41899053 | 41891549 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show |
a0001a0002a0003others(117): Show | a0001c0001a0001c0105a0001c0117others(139): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(150): Show | a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0178 others(298): Show |
350 | 396 | 0.8838 | -1 | c.384 others(9): Show |
SPTBN5 | ENSG00000137877.10 | transcript | ENST00000320955.8 | protein_coding | 3/67 | chr15 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64744657 | GA | G | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG01361.hp1 others(22): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0003a0002c0006others(11): Show | a0001c0001t0005a0002c0003t0005a0002c0003t0008others(14): Show | a0001c0001t0005g0249 a0001c0001t0005g0261 a0002c0003t0005g0105 others(22): Show |
25 | 268 | 0.0933 | -1 | c.*46 others(6): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1625 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64744771 | AT | A | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01168.hp2 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0024others(18): Show | a0001c0001t0001g0247 a0001c0001t0006g0002 a0001c0001t0006g0012 others(21): Show |
24 | 268 | 0.0896 | -1 | c.*45 others(6): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1511 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64748936 | CT | C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(184): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0009others(63): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(88): Show | a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0048 others(183): Show |
187 | 268 | 0.6978 | -1 | c.*36 others(5): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 36/36 | 369 | chr14 | TogoVar | ||||||
SPTB_chr14_64741283_64884907 | 64750369 | AT | A | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01175.hp2 others(25): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0009others(13): Show | a0001c0001t0006a0001c0001t0035a0001c0002t0006others(18): Show | a0001c0001t0006g0002 a0001c0001t0006g0012 a0001c0001t0006g0154 others(24): Show |
28 | 268 | 0.1045 | -1 | c.660 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 33/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64764472 | AT | A | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02109.hp2 others(2): Show |
a0002 | a0002c0012a0002c0023 | a0002c0012t0010a0002c0023t0010 | a0002c0012t0010g0001 a0002c0012t0010g0256 a0002c0023t0010g0030 others(1): Show |
5 | 268 | 0.0187 | -1 | c.634 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 32/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64766063 | TG | T | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01243.hp1 others(41): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0009others(22): Show | a0001c0001t0005a0001c0002t0001a0001c0009t0002others(28): Show | a0001c0001t0005g0261 a0001c0002t0001g0040 a0001c0002t0001g0184 others(41): Show |
44 | 268 | 0.1642 | -1 | c.634 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 32/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64768494 | GC | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(264): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0002a0001c0009others(80): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(136): Show | a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0048 others(263): Show |
267 | 268 | 0.9963 | -1 | c.602 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 29/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64768674 | CG | C | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02109.hp2 |
a0002 | a0002c0012 | a0002c0012t0010 | a0002c0012t0010g0001 a0002c0012t0010g0256 |
3 | 268 | 0.0112 | -1 | c.602 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 29/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64785601 | TG | T | frameshift_variant | HIGH | NA18992.hp2 | a0031 | a0031c0057 | a0031c0057t0002 | a0031c0057t0002g0192 | 1 | 268 | 0.0037 | -1 | c.379 others(5): Show |
p.Gln others(6): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 18/36 | 3957/10177 | 3790/6987 | 1264/2328 | chr14 | TogoVar |