regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(45): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG02129.hp2 NA18970.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0146a0001c0004t0002g0148a0001c0004t0002g0153others(3): Show | 6 | 284 | 0.0211 | 52 | c.*21 others(63): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | ||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(45): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01975.hp2 NA19077.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0002a0002c0002t0002 | a0001c0004t0002g0042a0001c0004t0002g0184a0002c0002t0002g0208others(1): Show | 4 | 284 | 0.0141 | 52 | c.*21 others(63): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472278 | A | ATAGATCT others(45): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0005 | a0001c0005t0079 | a0001c0005t0079g0162 | 1 | 230 | 0.0044 | 52 | c.467 others(69): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20472278 | A | ATATATCT others(45): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00642.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0018 | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(3): Show | a0001c0001t0001g0036a0001c0001t0001g0122a0001c0001t0014g0185others(4): Show | 7 | 230 | 0.0304 | 52 | c.467 others(69): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20472297 | T | TATATATC others(45): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0006 | a0001c0006t0042 | a0001c0006t0042g0084 | 1 | 230 | 0.0044 | 52 | c.467 others(69): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20472423 | T | TAGATATC others(45): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0062a0001c0002t0028 | a0001c0001t0062g0035a0001c0002t0028g0156 | 2 | 230 | 0.0087 | 52 | c.467 others(69): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT3_chr5_168656740_169306139 | 168750139 | C | CTTGCACC others(45): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0023 | 1 | 132 | 0.0076 | 52 | c.197 others(69): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 169079861 | G | GGAGGAGG others(45): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02145.hp2 HG02622.hp2 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0050a0001c0054others(6): Show | a0001c0001t0001a0001c0050t0021a0001c0054t0002others(6): Show | a0001c0001t0001g0081a0001c0050t0021g0003a0001c0054t0002g0044others(6): Show | 9 | 132 | 0.0682 | 52 | c.413 others(73): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
SLTM_chr15_58874050_58938679 | 58882181 | C | CAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 386 | 0.0026 | 52 | c.299 others(71): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 20/20 | chr15 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39619528 | C | CTATATCA others(45): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0048 | 1 | 344 | 0.0029 | 52 | c.-35 others(71): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16651756 | A | AGAGAAGC others(45): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 360 | 0.0028 | 52 | c.212 others(69): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69875963 | G | GATATATA others(45): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 270 | 0.0037 | 52 | c.-37 others(63): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3452 | chr14 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560505 | T | TGAGGCTC others(45): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560505 | T | TGAGGCTC others(45): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560525 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560577 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560577 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560616 | C | CTCACTGT others(45): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560733 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0169a0001c0002t0002g0023 | 2 | 180 | 0.0111 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560766 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560766 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18960.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0131a0001c0002t0002g0030 | 2 | 180 | 0.0111 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560785 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560837 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560870 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560889 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560922 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560974 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560993 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561026 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561078 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561129 | C | CGAGGCTC others(45): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561149 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561182 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561234 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | HG01516.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0176 | 2 | 180 | 0.0111 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561253 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561305 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561352 | G | GTTCTTGG others(45): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561507 | C | CATTCTTG others(45): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561565 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01516.hp1 HG02074.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0142a0001c0001t0001g0175a0001c0001t0001g0176others(1): Show | 4 | 180 | 0.0222 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561598 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561617 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561721 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0069 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561721 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03225.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0007t0005 | a0001c0002t0002g0040a0001c0002t0002g0041a0001c0007t0005g0050 | 3 | 180 | 0.0167 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561754 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0150a0001c0001t0004g0118 | 2 | 180 | 0.0111 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561794 | A | ACCCTGAG others(45): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561805 | C | CGAGGCTC others(45): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561806 | G | GAGGCTCT others(45): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18973.hp1 NA19068.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0110a0001c0001t0001g0125a0001c0002t0002g0008 | 3 | 180 | 0.0167 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561819 | C | CATTCTTG others(45): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561929 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01978.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023a0001c0002t0002g0031 | 2 | 180 | 0.0111 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168562033 | T | TGGAGGAG others(45): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0010 | a0002c0012t0010g0076 | 1 | 180 | 0.0056 | 52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |