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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDON_chr11_125951821_126067866 | 126065143 | G | GTGATAGT others(696): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0066 | a0002c0002t0066g0010 | 1 | 329 | 0.0030 | 703 | c.-26 others(714): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2278 | chr11 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(696): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 NA18747.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0004a0002c0006t0004 | a0001c0001t0004g0012 a0002c0006t0004g0130 |
2 | 12 | 0.1667 | 703 | c.-26 others(712): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(696): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 HG02486.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 a0001c0001t0004g0011 a0001c0001t0004g0120 |
5 | 15 | 0.3333 | 703 | c.-26 others(712): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(696): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 a0001c0001t0001g0244 |
2 | 303 | 0.0066 | 703 | c.891 others(720): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725522 | A | AGAGGGAG others(696): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0217 | 1 | 265 | 0.0038 | 703 | c.340 others(720): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725566 | A | AGAGGAAG others(696): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0273 | 1 | 218 | 0.0046 | 703 | c.340 others(720): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619039 | T | TGCTCCCC others(696): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 155 | 0.0065 | 703 | c.-10 others(722): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618390 | T | TGTGTGTG others(696): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 118 | 0.0085 | 703 | c.441 others(722): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618390 | T | TGTGTGTG others(696): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 124 | 0.0081 | 703 | c.446 others(722): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGCGAG others(696): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 224 | 0.0045 | 703 | c.215 others(720): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGCGAG others(696): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0003g0001 |
2 | 225 | 0.0089 | 703 | c.215 others(720): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGCGAG others(696): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0262 | 1 | 224 | 0.0045 | 703 | c.215 others(720): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378307 | G | GGCGTGAG others(696): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 224 | 0.0045 | 703 | c.215 others(720): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262021 | G | GTGACCCT others(696): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01257.hp2 |
a0003a0005 | a0003c0003a0003c0015a0005c0005 | a0003c0003t0001a0003c0015t0001a0005c0005t0002 | a0003c0003t0001g0205 a0003c0015t0001g0091 a0005c0005t0002g0270 |
3 | 244 | 0.0123 | 703 | c.571 others(720): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
FERMT1_chr20_6069845_6128030 | 6125413 | C | CTGTCCTA others(696): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0022 | a0001c0022t0018 | a0001c0022t0018g0201 | 1 | 356 | 0.0028 | 703 | c.-26 others(714): Show |
FERMT1 | ENSG00000101311.17 | transcript | ENST00000217289.9 | protein_coding | 2384 | chr20 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998945 | T | TTATATGC others(696): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0040 | 1 | 223 | 0.0045 | 703 | c.*51 others(714): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4328 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999036 | C | CATATAAA others(696): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0106 | 1 | 225 | 0.0044 | 703 | c.*50 others(714): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4237 | chr13 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(696): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01517.hp2 NA18947.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0005a0001c0001t0008a0001c0002t0009others(1): Show | a0001c0001t0005g0210 a0001c0001t0008g0216 a0001c0002t0009g0094 others(1): Show |
4 | 7 | 0.5714 | 703 | c.126 others(720): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FUT7_chr9_137025174_137037088 | 137034333 | A | AGAGGGGG others(696): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 355 | 0.0028 | 703 | c.-23 others(714): Show |
FUT7 | ENSG00000180549.8 | transcript | ENST00000314412.7 | protein_coding | 2246 | chr9 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807847 | C | CCTCCCTC others(696): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 302 | 0.0033 | 703 | c.*36 others(714): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3561 | chr2 | TogoVar | |||||||
GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(696): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 |
a0004 | a0004c0011 | a0004c0011t0007a0004c0011t0023 | a0004c0011t0007g0124 a0004c0011t0023g0007 |
2 | 4 | 0.5000 | 703 | c.116 others(722): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(696): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(73): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0116 others(73): Show |
76 | 78 | 0.9744 | 703 | c.116 others(722): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(696): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0123 | 1 | 3 | 0.3333 | 703 | c.116 others(722): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(696): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0082 a0001c0001t0014g0083 |
2 | 4 | 0.5000 | 703 | c.116 others(722): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(696): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0010 | a0003c0010t0014 | a0003c0010t0014g0064 | 1 | 3 | 0.3333 | 703 | c.116 others(722): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GZMM_chr19_539053_554922 | 545099 | A | ATCCCTCC others(696): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 353 | 0.0028 | 703 | c.55+ others(716): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HLA-DRB1_chr6_32573775_32594848 | 32587399 | A | AAATAAAT others(696): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 HG03041.hp2 others(2): Show |
a0012 | a0012c0012 | a0012c0012t0003 | a0012c0012t0003g0010 | 5 | 161 | 0.0311 | 703 | c.100 others(720): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997234 | G | GGGGTCGG others(696): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 | 1 | 362 | 0.0028 | 703 | c.-22 others(714): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 436 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997259 | G | GGGGGCGG others(696): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 356 | 0.0028 | 703 | c.-22 others(714): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 411 | chr6 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409037 | C | CCTCCTCT others(696): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0096 | 1 | 354 | 0.0028 | 703 | c.-27 others(714): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2703 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(696): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 77 | 0.0130 | 703 | c.-27 others(714): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471472 | T | TATTTTAT others(696): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0173 |
2 | 210 | 0.0095 | 703 | c.125 others(720): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471472 | T | TATTTTAT others(696): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 209 | 0.0048 | 703 | c.125 others(720): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857698 | C | CGGGTGTG others(696): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 290 | 0.0034 | 703 | c.153 others(722): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(696): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 8 | 0.1250 | 703 | c.641 others(718): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(696): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 NA19059.hp1 |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0020 | 2 | 83 | 0.0241 | 703 | c.*23 others(714): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(696): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 8 | 0.1250 | 703 | c.250 others(718): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(696): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0199 | 1 | 8 | 0.1250 | 703 | c.250 others(718): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(696): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG01099.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(28): Show |
31 | 38 | 0.8158 | 703 | c.293 others(722): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(696): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18974.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0001t0001g0244 others(1): Show |
4 | 11 | 0.3636 | 703 | c.293 others(722): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(696): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 8 | 0.1250 | 703 | c.293 others(722): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(696): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 8 | 0.1250 | 703 | c.293 others(722): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(696): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0060 | 1 | 8 | 0.1250 | 703 | c.293 others(722): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124468037 | A | ATCCTCAT others(696): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02280.hp1 others(5): Show |
a0002a0003a0006others(1): Show | a0002c0001a0002c0015a0002c0108others(4): Show | a0002c0001t0003a0002c0001t0010a0002c0015t0078others(5): Show | a0002c0001t0003g0173 a0002c0001t0010g0204 a0002c0015t0078g0232 others(5): Show |
8 | 43 | 0.1860 | 703 | c.592 others(720): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 6/48 | chr12 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124687566 | T | TATATTCC others(696): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 35 | 0.0286 | 703 | c.474 others(722): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(696): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0121 | 1 | 8 | 0.1250 | 703 | c.140 others(720): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(696): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG06807.hp1 |
a0001a0003a0026 | a0001c0001a0003c0008a0026c0040 | a0001c0001t0003a0003c0008t0003a0026c0040t0003 | a0001c0001t0003g0139 a0003c0008t0003g0177 a0026c0040t0003g0128 |
3 | 142 | 0.0211 | 703 | c.*48 others(714): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(696): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 100 | 0.0100 | 703 | c.907 others(720): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(696): Show |
intron_variant | MODIFIER | HG01516.hp2 NA19002.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0167 a0001c0001t0003g0176 a0001c0001t0005g0047 |
3 | 102 | 0.0294 | 703 | c.907 others(720): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79554464 | C | CACCTGGC others(696): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0006 | 1 | 79 | 0.0127 | 703 | c.-32 others(724): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar |