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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3426): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 2 | 365 | 0.0055 | 3433 | c.-10 others(3444): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3426): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 365 | 0.0027 | 3433 | c.-10 others(3444): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870129 | C | CACCACAC others(3426): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 338 | 0.0030 | 3433 | c.*35 others(3452): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3427): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 424 | 0.0024 | 3434 | c.*49 others(3445): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3427): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 424 | 0.0024 | 3434 | c.*49 others(3445): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3427): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 424 | 0.0024 | 3434 | c.*49 others(3445): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | 3434 | c.-13 others(3445): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 405 | 0.0074 | 3434 | c.-13 others(3445): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | 3434 | c.-13 others(3445): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | 3434 | c.-13 others(3445): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 HG02976.hp1 HG03041.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0003 | a0001c0001t0001a0001c0005t0001a0004c0003t0001 | a0001c0001t0001g0001a0001c0005t0001g0001a0004c0003t0001g0001 | 5 | 405 | 0.0124 | 3434 | c.-13 others(3445): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3434 | c.-13 others(3445): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3434 | c.-13 others(3445): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3427): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 323 | 0.0031 | 3434 | c.-21 others(3445): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3427): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 323 | 0.0031 | 3434 | c.-21 others(3445): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3427): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0048 | 1 | 186 | 0.0054 | 3434 | c.723 others(3451): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3427): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0078 | a0078c0059 | a0078c0059t0001 | a0078c0059t0001g0033 | 1 | 186 | 0.0054 | 3434 | c.723 others(3451): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934959 | C | CGGGGGGG others(3427): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0310 | 1 | 434 | 0.0023 | 3434 | c.843 others(3449): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258 | 1 | 365 | 0.0027 | 3434 | c.-10 others(3445): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 NA19007.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207a0001c0002t0001g0247 | 2 | 365 | 0.0055 | 3434 | c.-10 others(3445): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02970.hp1 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0007 | a0001c0004t0003g0323a0001c0004t0007g0325a0001c0004t0007g0326 | 3 | 365 | 0.0082 | 3434 | c.-10 others(3445): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 NA18982.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015a0001c0002t0001g0268a0001c0002t0001g0274 | 3 | 365 | 0.0082 | 3434 | c.-10 others(3445): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02717.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0331a0001c0003t0001g0332 | 2 | 365 | 0.0055 | 3434 | c.-10 others(3445): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 HG02976.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0156a0001c0001t0001g0160others(2): Show | 5 | 365 | 0.0137 | 3434 | c.-10 others(3445): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3427): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 HG02602.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0231a0001c0002t0001g0233 | 2 | 365 | 0.0055 | 3434 | c.-10 others(3445): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
TAF11L3_chr5_17513367_17523963 | 17521337 | G | GCAACCCT others(3427): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 1 | 410 | 0.0024 | 3434 | c.*23 others(3445): Show |
TAF11L3 | ENSG00000284439.1 | transcript | ENST00000638668.1 | protein_coding | 2375 | chr5 | TogoVar | ||||||
TAF11L3_chr5_17513367_17523963 | 17522678 | T | TGTGGACA others(3427): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 1 | 410 | 0.0024 | 3434 | c.*37 others(3445): Show |
TAF11L3 | ENSG00000284439.1 | transcript | ENST00000638668.1 | protein_coding | 3716 | chr5 | TogoVar | ||||||
TAF11L4_chr5_17516801_17527397 | 17522678 | T | TGTGGACA others(3427): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0003 | a0003c0003t0000 | a0003c0003t0000g0000 | 1 | 352 | 0.0028 | 3434 | c.*28 others(3443): Show |
TAF11L4 | ENSG00000284283.1 | transcript | ENST00000638408.1 | protein_coding | 282 | chr5 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3428): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 424 | 0.0024 | 3435 | c.*49 others(3446): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3428): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 334 | 0.0030 | 3435 | c.147 others(3452): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3428): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG02300.hp2 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 11 | 405 | 0.0272 | 3435 | c.-13 others(3446): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3428): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3435 | c.-13 others(3446): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3428): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01433.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0200a0001c0002t0001g0201a0001c0002t0001g0213others(8): Show | 11 | 365 | 0.0301 | 3435 | c.-10 others(3446): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3428): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0212 | 1 | 365 | 0.0027 | 3435 | c.-10 others(3446): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3436 | c.-13 others(3447): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3436 | c.-13 others(3447): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | 3436 | c.-13 others(3447): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3436 | c.-13 others(3447): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02809.hp1 NA18522.hp2 |
a0001a0004 | a0001c0005a0004c0003 | a0001c0005t0001a0004c0003t0001 | a0001c0005t0001g0001a0004c0003t0001g0001 | 3 | 405 | 0.0074 | 3436 | c.-13 others(3447): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3436 | c.-13 others(3447): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3429): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 323 | 0.0031 | 3436 | c.-21 others(3447): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 187190 | G | GGAGGAAC others(3429): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 350 | 0.0029 | 3436 | c.*20 others(3447): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1799 | chr16 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 | 1 | 365 | 0.0027 | 3436 | c.-10 others(3447): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0012 | 1 | 365 | 0.0027 | 3436 | c.-10 others(3447): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223a0001c0002t0001g0249 | 2 | 365 | 0.0055 | 3436 | c.-10 others(3447): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0305 | 1 | 365 | 0.0027 | 3436 | c.-10 others(3447): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3429): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02809.hp1 NA18522.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0019a0001c0001t0001g0157a0001c0001t0001g0163others(1): Show | 4 | 365 | 0.0110 | 3436 | c.-10 others(3447): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3430): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 424 | 0.0024 | 3437 | c.*49 others(3448): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3430): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3437 | c.-13 others(3448): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3430): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG03942.hp1 NA19002.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 405 | 0.0148 | 3437 | c.-13 others(3448): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar |