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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3420 | c.-13 others(3431): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 2 | 405 | 0.0049 | 3420 | c.-13 others(3431): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3420 | c.-13 others(3431): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 405 | 0.0049 | 3420 | c.-13 others(3431): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(3413): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0328 | 1 | 376 | 0.0027 | 3420 | c.101 others(3437): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(3413): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 | 1 | 376 | 0.0027 | 3420 | c.101 others(3437): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 365 | 0.0027 | 3420 | c.-10 others(3431): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG02027.hp1 others(6): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0015t0002 | a0001c0001t0001g0132a0001c0001t0002g0046a0001c0001t0002g0064others(6): Show | 9 | 365 | 0.0247 | 3420 | c.-10 others(3431): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0210 | 1 | 365 | 0.0027 | 3420 | c.-10 others(3431): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0195a0001c0001t0010g0194 | 2 | 365 | 0.0055 | 3420 | c.-10 others(3431): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0276 | 1 | 365 | 0.0027 | 3420 | c.-10 others(3431): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3413): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092a0001c0001t0002g0106 | 2 | 365 | 0.0055 | 3420 | c.-10 others(3431): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3414): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01891.hp1 HG02109.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0001a0006c0007t0001g0001 | 8 | 405 | 0.0198 | 3421 | c.-13 others(3432): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3414): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 216 | 0.0046 | 3421 | c.-51 others(3440): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGGC others(3414): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 373 | 0.0027 | 3421 | c.115 others(3438): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3414): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0035a0001c0001t0002g0068others(4): Show | 8 | 365 | 0.0219 | 3421 | c.-10 others(3432): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3415): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0065 | a0004c0065t0001 | a0004c0065t0001g0138 | 1 | 292 | 0.0034 | 3422 | c.228 others(3439): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3415): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0006 | a0006c0025 | a0006c0025t0002 | a0006c0025t0002g0110 | 1 | 292 | 0.0034 | 3422 | c.228 others(3439): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3415): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0032 | a0032c0074 | a0032c0074t0029 | a0032c0074t0029g0144 | 1 | 369 | 0.0027 | 3422 | c.-50 others(3433): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3415): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3422 | c.-13 others(3433): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3415): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 405 | 0.0025 | 3422 | c.-13 others(3433): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3415): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0000 | a0000c0065 | a0000c0065t0001 | a0000c0065t0001g0041 | 1 | 186 | 0.0054 | 3422 | c.723 others(3439): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3415): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 365 | 0.0027 | 3422 | c.-10 others(3433): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3415): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 365 | 0.0027 | 3422 | c.-10 others(3433): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3416): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 3423 | c.-13 others(3434): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3417): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 424 | 0.0024 | 3424 | c.*49 others(3435): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3417): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 424 | 0.0024 | 3424 | c.*49 others(3435): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3417): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 424 | 0.0024 | 3424 | c.*49 others(3435): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3417): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG01255.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0240a0001c0001t0002g0020a0001c0001t0002g0021others(9): Show | 15 | 424 | 0.0354 | 3424 | c.*49 others(3435): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3417): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 424 | 0.0024 | 3424 | c.*49 others(3435): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3417): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 405 | 0.0025 | 3424 | c.-13 others(3435): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953985 | A | ACACAGAC others(3417): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 294 | 0.0034 | 3424 | c.503 others(3439): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3417): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 365 | 0.0027 | 3424 | c.-10 others(3435): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3417): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 365 | 0.0027 | 3424 | c.-10 others(3435): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3418): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0262 | 2 | 424 | 0.0047 | 3425 | c.*49 others(3436): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3418): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 424 | 0.0024 | 3425 | c.*49 others(3436): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3418): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256a0001c0001t0002g0265 | 2 | 424 | 0.0047 | 3425 | c.*49 others(3436): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3418): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 424 | 0.0024 | 3425 | c.*49 others(3436): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3418): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0127 | 1 | 216 | 0.0046 | 3425 | c.-51 others(3444): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3419): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 424 | 0.0024 | 3426 | c.*49 others(3437): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3419): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 424 | 0.0024 | 3426 | c.*49 others(3437): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64507003 | T | TCTGTCAC others(3419): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0015 | 1 | 24 | 0.0417 | 3426 | c.564 others(3447): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3419): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02809.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 405 | 0.0124 | 3426 | c.-13 others(3437): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
GALR2_chr17_76069781_76082537 | 76073501 | G | GGCCAGGC others(3419): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0001 | 1 | 405 | 0.0025 | 3426 | c.-13 others(3437): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 1279 | chr17 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3419): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0077 | 1 | 216 | 0.0046 | 3426 | c.-51 others(3445): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3419): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0007 | a0001c0003t0004a0002c0004t0004a0002c0007t0004 | a0001c0003t0004g0089a0002c0004t0004g0144a0002c0007t0004g0214others(1): Show | 4 | 310 | 0.0129 | 3426 | c.160 others(3445): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3419): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205 | 1 | 310 | 0.0032 | 3426 | c.160 others(3445): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3419): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02809.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0307a0001c0003t0001g0308a0001c0003t0001g0312others(2): Show | 5 | 365 | 0.0137 | 3426 | c.-10 others(3437): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
SRP68_chr17_76033785_76077517 | 76073501 | G | GGCCAGGC others(3419): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 365 | 0.0027 | 3426 | c.-10 others(3437): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 985 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3420): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 424 | 0.0024 | 3427 | c.*49 others(3438): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar |