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 | 54471800 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(119): Show |
a0001a0002a0008others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0017 others(119): Show |
122 | 370 | 0.3297 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54477400 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(26): Show | a0001c0001t0002g0007 a0001c0001t0002g0351 a0001c0001t0005g0221 others(63): Show |
66 | 370 | 0.1784 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54479863 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(89): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(35): Show | a0001c0001t0001g0087 a0001c0001t0002g0079 a0001c0001t0002g0084 others(89): Show |
92 | 370 | 0.2487 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54482357 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(118): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0156 a0001c0001t0002g0015 a0001c0001t0002g0030 others(118): Show |
121 | 370 | 0.3270 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54486163 | GC | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(82): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0087 a0001c0001t0002g0079 a0001c0001t0002g0084 others(82): Show |
85 | 370 | 0.2297 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54487170 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(64): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(27): Show | a0001c0001t0001g0087 a0001c0001t0002g0079 a0001c0001t0002g0123 others(64): Show |
67 | 370 | 0.1811 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54489151 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(141): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0156 a0001c0001t0002g0015 a0001c0001t0002g0351 others(141): Show |
144 | 370 | 0.3892 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54490077 | GA | G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG02004.hp1 others(30): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(10): Show | a0001c0001t0001g0087 a0001c0001t0002g0079 a0001c0001t0002g0084 others(30): Show |
33 | 370 | 0.0892 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54490079 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(196): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0156 a0001c0001t0002g0015 a0001c0001t0002g0030 others(196): Show |
199 | 370 | 0.5378 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54491651 | GC | G | intron_variant | MODIFIER | HG01256.hp2 HG02055.hp2 HG02080.hp2 others(44): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(13): Show | a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0005g0309 others(44): Show |
47 | 370 | 0.1270 | -1 | c.-47 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54492340 | TG | T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00735.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0029others(6): Show | a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0120 others(13): Show |
16 | 370 | 0.0432 | -1 | c.-47 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54493001 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(57): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0002g0351 a0001c0001t0004g0091 a0001c0001t0005g0353 others(57): Show |
60 | 370 | 0.1622 | -1 | c.-47 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54494908 | GT | G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02280.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0050others(9): Show | a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0120 others(21): Show |
24 | 370 | 0.0649 | -1 | c.-47 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54494917 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(183): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0087 a0001c0001t0002g0015 a0001c0001t0002g0020 others(183): Show |
186 | 370 | 0.5027 | -1 | c.-47 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54496439 | TA | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0005a0001c0001t0019a0001c0001t0020others(6): Show | a0001c0001t0005g0344 a0001c0001t0019g0183 a0001c0001t0020g0032 others(7): Show |
10 | 370 | 0.0270 | -1 | c.-47 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54509956 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(287): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0084 others(287): Show |
290 | 370 | 0.7838 | -1 | c.-47 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54517946 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(258): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0123 others(258): Show |
261 | 370 | 0.7054 | -1 | c.-47 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54519030 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0007a0001c0001t0044a0001c0002t0004others(15): Show | a0001c0001t0007g0196 a0001c0001t0007g0270 a0001c0001t0007g0296 others(53): Show |
56 | 370 | 0.1514 | -1 | c.-47 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522677 | AG | A | intron_variant | MODIFIER | HG00099.hp1 NA18940.hp1 NA19076.hp1 |
a0001a0015 | a0001c0003a0015c0040 | a0001c0003t0003a0001c0003t0009a0015c0040t0002 | a0001c0003t0003g0355 a0001c0003t0009g0236 a0015c0040t0002g0216 |
3 | 370 | 0.0081 | -1 | c.-47 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54524949 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(187): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(55): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0094 others(187): Show |
190 | 370 | 0.5135 | -1 | c.-47 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54528699 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0123 others(224): Show |
227 | 370 | 0.6135 | -1 | c.148 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54529852 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(93): Show |
a0001a0015a0016 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0012 others(93): Show |
96 | 370 | 0.2595 | -1 | c.148 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54530353 | CT | C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01167.hp1 others(12): Show |
a0001a0016 | a0001c0002a0001c0007a0001c0009others(3): Show | a0001c0002t0001a0001c0007t0013a0001c0009t0002others(7): Show | a0001c0002t0001g0275 a0001c0007t0013g0044 a0001c0009t0002g0285 others(12): Show |
15 | 370 | 0.0405 | -1 | c.148 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54546958 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0017 others(143): Show |
146 | 370 | 0.3946 | -1 | c.148 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54549289 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(239): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(58): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0085 others(239): Show |
242 | 370 | 0.6541 | -1 | c.148 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54552465 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(206): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0094 others(206): Show |
209 | 370 | 0.5649 | -1 | c.148 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54563593 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(165): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0017 others(165): Show |
168 | 370 | 0.4541 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54566185 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(189): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(53): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0003g0059 others(189): Show |
192 | 370 | 0.5189 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54567502 | GC | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(112): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(33): Show | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(112): Show |
115 | 370 | 0.3108 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54568349 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(67): Show |
a0001a0008a0013 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(19): Show | a0001c0001t0002g0208 a0001c0001t0004g0001 a0001c0001t0004g0070 others(67): Show |
70 | 370 | 0.1892 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54569971 | TC | T | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02559.hp1 others(13): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0009a0001c0005t0008a0001c0005t0011others(1): Show | a0001c0003t0009g0227 a0001c0005t0008g0041 a0001c0005t0008g0048 others(13): Show |
16 | 370 | 0.0432 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54572084 | TC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(154): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(38): Show | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(154): Show |
157 | 370 | 0.4243 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54575988 | AG | A | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp2 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0019a0001c0001t0049a0001c0001t0050others(3): Show | a0001c0001t0019g0031 a0001c0001t0019g0183 a0001c0001t0049g0076 others(10): Show |
13 | 370 | 0.0351 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54576072 | TG | T | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02109.hp2 others(33): Show |
a0001a0006 | a0001c0001a0001c0005a0001c0013others(2): Show | a0001c0001t0010a0001c0005t0003a0001c0005t0008others(10): Show | a0001c0001t0010g0238 a0001c0005t0003g0004 a0001c0005t0003g0005 others(33): Show |
36 | 370 | 0.0973 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54581577 | CT | C | intron_variant | MODIFIER | HG01993.hp2 HG02970.hp1 HG02976.hp1 others(5): Show |
a0001a0014 | a0001c0001a0001c0003a0014c0022 | a0001c0001t0002a0001c0001t0010a0001c0001t0020others(2): Show | a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0168 others(5): Show |
8 | 370 | 0.0216 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54584522 | GA | G | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(2): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0029a0001c0007t0001 | a0001c0002t0001g0111 a0001c0002t0001g0204 a0001c0002t0029g0339 others(2): Show |
5 | 370 | 0.0135 | -1 | c.149 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54592370 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(82): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0029a0001c0002t0001others(15): Show | a0001c0001t0002g0020 a0001c0001t0029g0100 a0001c0002t0001g0009 others(82): Show |
85 | 370 | 0.2297 | -1 | c.149 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54593823 | CT | C | intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 HG02257.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0019others(9): Show | a0001c0001t0002g0015 a0001c0001t0002g0293 a0001c0001t0018g0180 others(13): Show |
16 | 370 | 0.0432 | -1 | c.149 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54597866 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(83): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0004others(14): Show | a0001c0001t0010g0238 a0001c0002t0001g0009 a0001c0002t0001g0010 others(83): Show |
86 | 370 | 0.2324 | -1 | c.149 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54598468 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(260): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(69): Show | a0001c0001t0005g0221 a0001c0001t0007g0196 a0001c0001t0007g0270 others(260): Show |
263 | 370 | 0.7108 | -1 | c.149 others(8): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54600453 | AC | A | intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0018a0001c0001t0019a0001c0001t0049others(2): Show | a0001c0001t0018g0303 a0001c0001t0019g0031 a0001c0001t0019g0183 others(3): Show |
6 | 370 | 0.0162 | -1 | c.300 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54606640 | AC | A | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(9): Show |
a0001 | a0001c0009a0001c0018a0001c0033 | a0001c0009t0002a0001c0009t0007a0001c0009t0010others(4): Show | a0001c0009t0002g0285 a0001c0009t0007g0272 a0001c0009t0007g0280 others(9): Show |
12 | 370 | 0.0324 | -1 | c.301 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 3/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54613310 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(259): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(68): Show | a0001c0001t0005g0221 a0001c0001t0007g0196 a0001c0001t0007g0270 others(259): Show |
262 | 370 | 0.7081 | -1 | c.474 others(8): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54615136 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(259): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(67): Show | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(259): Show |
262 | 370 | 0.7081 | -1 | c.475 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54622393 | AT | A | frameshift_variant | HIGH | NA19001.hp1 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0326 | 1 | 370 | 0.0027 | -1 | c.972 others(4): Show |
p.Leu others(5): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 9/36 | 1211/10211 | 972/7095 | 324/2364 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SPTBN1_chr2_54451327_54676446 | 54624807 | TG | T | frameshift_variant | HIGH | NA19055.hp2 | a0014 | a0014c0022 | a0014c0022t0002 | a0014c0022t0002g0090 | 1 | 370 | 0.0027 | -1 | c.118 others(5): Show |
p.Glu others(5): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 11/36 | 1428/10211 | 1189/7095 | 397/2364 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SPTBN1_chr2_54451327_54676446 | 54627785 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(44): Show |
a0001a0003a0011 | a0001c0003a0001c0011a0001c0028others(3): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0009others(11): Show | a0001c0003t0003g0008 a0001c0003t0003g0036 a0001c0003t0003g0037 others(44): Show |
47 | 370 | 0.1270 | -1 | c.164 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54632077 | TA | T | intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02055.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0018a0001c0001t0019a0001c0002t0001others(7): Show | a0001c0001t0018g0303 a0001c0001t0019g0241 a0001c0002t0001g0334 others(18): Show |
21 | 370 | 0.0568 | -1 | c.356 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 16/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54638789 | TG | T | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(9): Show |
a0001 | a0001c0009a0001c0018a0001c0033 | a0001c0009t0002a0001c0009t0007a0001c0009t0010others(4): Show | a0001c0009t0002g0285 a0001c0009t0007g0272 a0001c0009t0007g0280 others(9): Show |
12 | 370 | 0.0324 | -1 | c.385 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 18/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54640403 | AC | A | intron_variant | MODIFIER | HG02145.hp2 HG02602.hp1 HG03139.hp1 others(13): Show |
a0001a0002a0013 | a0001c0007a0002c0006a0013c0037 | a0001c0007t0013a0002c0006t0003a0013c0037t0004 | a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0007t0013g0108 others(13): Show |
16 | 370 | 0.0432 | -1 | c.385 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 18/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |