Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FUT8_chr14_65407730_65749121	65576696	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp1 NA18985.hp1 others(3): Show HG02572.hp2 HG03041.hp1 NA18985.hp1 NA18988.hp1 NA19057.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001	a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 others(3): Show a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0361 a0001c0001t0010g0089 a0001c0002t0001g0102	6	374	0.0160	-22	c.203 others(41): Show c.203+14950_203+14971delTTTTTTTTTTTTTTTTTTTTTT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65602339	TCTCTCAC others(15): Show TCTCTCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0357	1	374	0.0027	-22	c.204 others(41): Show c.204-13637_204-13616delTCTCACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65602341	TCTCACAC others(15): Show TCTCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02717.hp1 others(2): Show HG01884.hp1 HG02572.hp1 HG02717.hp1 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0210 a0001c0001t0008g0284 a0001c0001t0008g0285 others(2): Show a0001c0001t0008g0210 a0001c0001t0008g0284 a0001c0001t0008g0285 a0001c0001t0008g0286 a0001c0001t0008g0287	5	374	0.0134	-22	c.204 others(41): Show c.204-13635_204-13614delTCACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611213	GCGCGCGC others(15): Show GCGCGCGCGCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19005.hp1 NA18951.hp2 NA19005.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0340 a0002c0003t0001g0349 a0002c0003t0001g0340 a0002c0003t0001g0349	2	374	0.0054	-22	c.204 others(39): Show c.204-4763_204-4742delGCGCGCGCGCACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611215	GCGCGCGC others(15): Show GCGCGCGCGCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	374	0.0027	-22	c.204 others(39): Show c.204-4761_204-4740delGCGCGCGCACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65618010	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01256.hp1 HG01928.hp2 others(6): Show HG01123.hp2 HG01256.hp1 HG01928.hp2 HG01978.hp1 HG02300.hp1 NA18950.hp2 NA19001.hp1 NA19089.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0002 a0001c0001t0001g0121 a0001c0002t0007g0298 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0121 a0001c0002t0007g0298 a0001c0002t0007g0299 a0001c0002t0007g0302 a0001c0002t0007g0304 a0001c0002t0007g0307 a0001c0002t0007g0308 a0001c0002t0007g0312	9	374	0.0241	-22	c.482 others(39): Show c.482+1660_482+1681delATATATATATATATATATATAT	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65677151	TGCGCGCG others(15): Show TGCGCGCGCGCATGCGCGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG01256.hp2 others(9): Show HG00673.hp2 HG00735.hp1 HG01256.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02145.hp2 HG02559.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0001 a0001c0001t0002 a0001c0001t0026	a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0002g0092 others(9): Show a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0026g0112	12	374	0.0321	-22	c.835 others(39): Show c.835+7673_835+7694delCGCGCGCGCATGCGCGCGCACG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT9_chr6_96010974_96220612	96100230	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp1 HG03098.hp1 others(1): Show HG02622.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0035 a0001c0005t0032 a0002c0002t0027 a0001c0001t0035 a0001c0005t0032 a0002c0002t0027	a0001c0001t0035g0013 a0001c0005t0032g0284 a0002c0002t0027g0047 others(1): Show a0001c0001t0035g0013 a0001c0005t0032g0284 a0002c0002t0027g0047 a0002c0002t0027g0145	4	320	0.0125	-22	c.-97 others(41): Show c.-97-13783_-97-13762delCACACACACACACACACACACA	FUT9	ENSG00000172461.11	transcript	ENST00000302103.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
FXR2_chr17_7586230_7619897	7619467	GGAGGTCA others(15): Show GGAGGTCAAGATAGGCGGATCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	426	0.0024	-22	c.-49 others(33): Show c.-4957_-4936delATGATCCGCCTATCTTGACCTC	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding		4571		chr17	TogoVar
FXYD6_chr11_117831981_117881658	117858679	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	430	0.0023	-22	c.-5- others(39): Show c.-5-15920_-5-15899delAAGAAAGAAAGAAAGAAAGAAA	FXYD6	ENSG00000137726.17	transcript	ENST00000526014.6	protein_coding	1/7			chr11	TogoVar
FXYD6_chr11_117831981_117881658	117858681	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0325	1	430	0.0023	-22	c.-5- others(39): Show c.-5-15922_-5-15901delGAAAGAAAGAAAGAAAGAAAGA	FXYD6	ENSG00000137726.17	transcript	ENST00000526014.6	protein_coding	1/7			chr11	TogoVar
FYB1_chr5_39100252_39224563	39148153	TTTTATAT others(15): Show TTTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01516.hp1 HG02559.hp1 others(6): Show HG01169.hp1 HG01516.hp1 HG02559.hp1 HG02647.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp2 HG03540.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0002c0022 others(2): Show a0001c0001 a0001c0003 a0002c0022 a0003c0005 a0007c0013	a0001c0001t0002 a0001c0001t0013 a0001c0003t0001 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0003t0001 a0002c0022t0001 a0003c0005t0009 a0003c0005t0020 a0007c0013t0002	a0001c0001t0002g0077 a0001c0001t0013g0324 a0001c0003t0001g0293 others(6): Show a0001c0001t0002g0077 a0001c0001t0013g0324 a0001c0003t0001g0293 a0001c0003t0001g0295 a0002c0022t0001g0294 a0003c0005t0009g0113 a0003c0005t0020g0117 a0007c0013t0002g0111 a0007c0013t0002g0112	9	326	0.0276	-22	c.129 others(41): Show c.1292+5273_1292+5294delTATATATATATATATATATAAA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYB1_chr5_39100252_39224563	39148155	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0007 a0006c0008t0007	a0006c0008t0007g0114 a0006c0008t0007g0114	1	326	0.0031	-22	c.129 others(41): Show c.1292+5271_1292+5292delTATATATATATATATATATATA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYB1_chr5_39100252_39224563	39182287	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00735.hp2 others(45): Show HG00323.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG02055.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 NA18948.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0016 others(4): Show a0001c0001 a0001c0003 a0001c0016 a0002c0002 a0002c0015 a0003c0005 a0006c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0013 a0001c0003t0025 a0001c0016t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0015t0003 a0003c0005t0003 a0003c0005t0007 a0006c0008t0003	a0001c0001t0002g0056 a0001c0001t0003g0079 a0001c0001t0005g0259 others(45): Show a0001c0001t0002g0056 a0001c0001t0003g0079 a0001c0001t0005g0259 a0001c0001t0006g0054 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0009g0167 a0001c0001t0010g0323 a0001c0003t0001g0203 a0001c0003t0001g0218 a0001c0003t0001g0234 a0001c0003t0001g0277 a0001c0003t0001g0290 a0001c0003t0001g0293 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0314 a0001c0003t0002g0050 a0001c0003t0003g0106 a0001c0003t0003g0109 a0001c0003t0003g0163 a0001c0003t0004g0199 a0001c0003t0004g0217 a0001c0003t0004g0219 a0001c0003t0004g0297 a0001c0003t0005g0291 a0001c0003t0005g0292 a0001c0003t0006g0051 a0001c0003t0006g0052 a0001c0003t0013g0214 a0001c0003t0025g0165 a0001c0016t0003g0012 a0002c0002t0001g0188 a0002c0002t0001g0198 a0002c0002t0001g0258 a0002c0002t0001g0284 a0002c0002t0002g0162 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0005g0251 a0002c0002t0007g0164 a0002c0002t0009g0041 a0002c0015t0003g0170 a0003c0005t0003g0120 a0003c0005t0007g0076 a0006c0008t0003g0108	48	326	0.1472	-22	c.113 others(43): Show c.1135+19517_1135+19538delCACACACACACACACACACACA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	2/18			chr5	TogoVar
FYB2_chr1_56713789_56824404	56818455	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0321 a0002c0007t0001g0321	1	380	0.0026	-22	c.9+8 others(33): Show c.9+805_9+826delGTGTGTGTGTGTGTGTGTGTGT	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	1/19			chr1	TogoVar
FYCO1_chr3_45912903_46000824	45977350	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18951.hp1 NA18968.hp1 others(3): Show HG01515.hp1 NA18951.hp1 NA18968.hp1 NA19000.hp2 NA19078.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0035 a0001c0002t0002 a0001c0002t0004 a0001c0002t0035	a0001c0002t0002g0005 a0001c0002t0004g0116 a0001c0002t0035g0092 a0001c0002t0002g0005 a0001c0002t0004g0116 a0001c0002t0035g0092	6	336	0.0179	-22	c.289 others(39): Show c.289-2027_289-2006delATATATATATATATATATATAT	FYCO1	ENSG00000163820.16	transcript	ENST00000296137.7	protein_coding	4/17			chr3	TogoVar
FYN_chr6_111655332_111878452	111797665	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01256.hp2 others(6): Show HG00639.hp1 HG01106.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG03195.hp1 HG03927.hp2 NA19030.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 others(6): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0004g0125 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0007g0073 a0001c0001t0010g0118 a0001c0001t0011g0016	9	234	0.0385	-22	c.-81 others(41): Show c.-81-17052_-81-17031delATATATATATATATATATATAT	FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding	2/13			chr6	TogoVar
G2E3_chr14_30554158_30625064	30563695	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0169 a0001c0001t0023g0169	1	356	0.0028	-22	c.-5+ others(37): Show c.-5+4446_-5+4467delTGTGTGTGTGTGTGTGTGTGTG	G2E3	ENSG00000092140.16	transcript	ENST00000206595.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
G6PC3_chr17_44065735_44081344	44066608	CGGCGGCG others(15): Show CGGCGGCGGCGGCGGCAGCAGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	-22	c.-43 others(33): Show c.-4357_-4336delGGCGGCGGCGGCGGCAGCAGCG	G6PC3	ENSG00000141349.10	transcript	ENST00000269097.9	protein_coding		4126		chr17	TogoVar
GAB1_chr4_143331876_143479565	143423792	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG02886.hp1 others(6): Show HG01243.hp2 HG02486.hp2 HG02886.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0182 others(6): Show a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0011g0153	9	194	0.0464	-22	c.367 others(39): Show c.367+8045_367+8066delATATATATATATATATATATAT	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78214405	TCACAGCA others(15): Show TCACAGCAGGAGGCCTTTGCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02895.hp1 others(1): Show HG02622.hp2 HG02647.hp2 HG02895.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0040 a0001c0005t0013 a0001c0005t0040	a0001c0005t0013g0127 a0001c0005t0013g0130 a0001c0005t0013g0131 others(1): Show a0001c0005t0013g0127 a0001c0005t0013g0130 a0001c0005t0013g0131 a0001c0005t0040g0129	4	288	0.0139	-22	c.48 others(33): Show c.4845_*4866delGGGGCAAAGGCCTCCTGCTGTG	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding		887		chr11	TogoVar
GAB2_chr11_78210293_78422820	78309926	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02486.hp2 others(6): Show HG02055.hp1 HG02257.hp1 HG02486.hp2 HG02717.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0008 a0001c0003t0043 a0001c0003t0004 a0001c0003t0008 a0001c0003t0043	a0001c0003t0004g0132 a0001c0003t0004g0133 a0001c0003t0004g0134 others(6): Show a0001c0003t0004g0132 a0001c0003t0004g0133 a0001c0003t0004g0134 a0001c0003t0008g0095 a0001c0003t0008g0096 a0001c0003t0008g0097 a0001c0003t0008g0098 a0001c0003t0008g0228 a0001c0003t0043g0111	9	288	0.0313	-22	c.76- others(39): Show c.76-29047_76-29026delCACACACACACACACACACACA	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR1_chr6_29597238_29638183	29617668	ATCCAAGA others(15): Show ATCCAAGATGAAGCTCAATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18747.hp1 NA18949.hp2 HG03017.hp1 NA18747.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0175 a0001c0001t0001g0194 a0001c0001t0001g0121 a0001c0001t0001g0175 a0001c0001t0001g0194	3	407	0.0074	-22	c.132 others(41): Show c.1323+3411_1323+3432delAAAAATTGAGCTTCATCTTGGA	GABBR1	ENSG00000204681.11	transcript	ENST00000377034.9	protein_coding	11/22			chr6	TogoVar
GABBR2_chr9_98283109_98713935	98436345	CACCATAT others(15): Show CACCATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03831.hp2 HG02622.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0025 a0001c0001t0015 a0001c0001t0025	a0001c0001t0015g0042 a0001c0001t0025g0022 a0001c0001t0015g0042 a0001c0001t0025g0022	2	164	0.0122	-22	c.123 others(43): Show c.1236+17614_1236+17635delTATATATATATATATATATGGT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98436348	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0106 a0001c0001t0021g0106	1	164	0.0061	-22	c.123 others(43): Show c.1236+17611_1236+17632delATATATATATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98436386	TATATATA others(15): Show TATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	164	0.0061	-22	c.123 others(43): Show c.1236+17573_1236+17594delCTATATATATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98462035	GACATGAG others(15): Show GACATGAGATTTGGAGGGGACGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0049 a0001c0021t0003g0049	1	164	0.0061	-22	c.100 others(41): Show c.1000-7840_1000-7819delTCGTCCCCTCCAAATCTCATGT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	6/18			chr9	TogoVar
GABPB1_chr15_50270389_50360198	50337071	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0123 a0001c0001t0014g0123	1	366	0.0027	-22	c.-1+ others(39): Show c.-1+17892_-1+17913delTATATATATATATATATACACA	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABPB2_chr1_151065761_151130542	151110005	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02451.hp2 others(4): Show HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0009 a0004c0004t0009 a0004c0004t0089 a0001c0001t0009 a0004c0004t0009 a0004c0004t0089	a0001c0001t0009g0096 a0004c0004t0009g0098 a0004c0004t0009g0099 others(4): Show a0001c0001t0009g0096 a0004c0004t0009g0098 a0004c0004t0009g0099 a0004c0004t0009g0100 a0004c0004t0009g0101 a0004c0004t0009g0102 a0004c0004t0089g0225	7	264	0.0265	-22	c.922 others(39): Show c.922+2799_922+2820delTTTTTTTTTTTTTTTTTTTTTT	GABPB2	ENSG00000143458.12	transcript	ENST00000368918.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRA1_chr5_161843120_161904971	161852124	ACGTAAAA others(15): Show ACGTAAAATAAAGATTTCCATTC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp1 HG03130.hp1 others(2): Show HG02258.hp1 HG02965.hp1 HG03130.hp1 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0226 a0001c0001t0008g0227 others(1): Show a0001c0001t0008g0015 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0297	5	394	0.0127	-22	c.74+ others(37): Show c.74+1242_74+1263delGTAAAATAAAGATTTCCATTCC	GABRA1	ENSG00000022355.18	transcript	ENST00000393943.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GABRA2_chr4_46238548_46395128	46297476	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(93): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02572.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18971.hp2 NA18977.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18999.hp1 NA19002.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19059.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0051 a0001c0002t0003 a0001c0002t0004 others(71): Show a0001c0001t0051 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0032 a0001c0002t0034 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0046 a0001c0002t0053 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0081 a0001c0002t0086 a0001c0002t0089 a0001c0002t0090 a0001c0002t0094 a0001c0002t0101 a0001c0002t0105 a0001c0002t0109 a0001c0002t0120 a0001c0002t0124 a0001c0002t0131 a0001c0002t0145 a0001c0002t0149 a0001c0002t0156 a0001c0002t0161 a0001c0002t0162 a0001c0002t0163 a0001c0002t0166 a0001c0002t0167 a0001c0002t0168 a0001c0002t0173 a0001c0002t0180 a0001c0002t0181 a0001c0002t0182 a0001c0002t0183 a0001c0002t0185 a0001c0002t0186 a0001c0002t0187 a0001c0002t0188 a0001c0002t0190 a0001c0002t0191 a0001c0002t0193 a0001c0002t0195 a0001c0002t0196 a0001c0002t0197 a0001c0002t0198 a0001c0002t0200	a0001c0001t0051g0016 a0001c0002t0003g0214 a0001c0002t0003g0215 others(93): Show a0001c0001t0051g0016 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0004g0237 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0005g0010 a0001c0002t0005g0012 a0001c0002t0005g0013 a0001c0002t0006g0025 a0001c0002t0006g0028 a0001c0002t0011g0185 a0001c0002t0011g0186 a0001c0002t0012g0201 a0001c0002t0012g0204 a0001c0002t0012g0205 a0001c0002t0013g0211 a0001c0002t0013g0212 a0001c0002t0013g0213 a0001c0002t0014g0223 a0001c0002t0014g0228 a0001c0002t0014g0229 a0001c0002t0015g0014 a0001c0002t0015g0015 a0001c0002t0016g0017 a0001c0002t0016g0020 a0001c0002t0017g0022 a0001c0002t0017g0023 a0001c0002t0032g0173 a0001c0002t0034g0180 a0001c0002t0036g0196 a0001c0002t0036g0198 a0001c0002t0038g0206 a0001c0002t0038g0207 a0001c0002t0039g0224 a0001c0002t0039g0225 a0001c0002t0040g0234 a0001c0002t0041g0002 a0001c0002t0042g0003 a0001c0002t0046g0007 a0001c0002t0053g0021 a0001c0002t0057g0029 a0001c0002t0058g0031 a0001c0002t0059g0033 a0001c0002t0060g0032 a0001c0002t0062g0035 a0001c0002t0063g0036 a0001c0002t0064g0037 a0001c0002t0065g0038 a0001c0002t0067g0041 a0001c0002t0068g0039 a0001c0002t0069g0042 a0001c0002t0070g0043 a0001c0002t0071g0045 a0001c0002t0072g0044 a0001c0002t0073g0046 a0001c0002t0081g0053 a0001c0002t0086g0057 a0001c0002t0089g0067 a0001c0002t0090g0066 a0001c0002t0094g0070 a0001c0002t0101g0083 a0001c0002t0105g0099 a0001c0002t0109g0110 a0001c0002t0120g0126 a0001c0002t0124g0135 a0001c0002t0131g0146 a0001c0002t0145g0164 a0001c0002t0149g0168 a0001c0002t0156g0175 a0001c0002t0161g0192 a0001c0002t0162g0191 a0001c0002t0163g0189 a0001c0002t0166g0195 a0001c0002t0167g0197 a0001c0002t0168g0202 a0001c0002t0173g0219 a0001c0002t0180g0231 a0001c0002t0181g0233 a0001c0002t0182g0232 a0001c0002t0183g0236 a0001c0002t0185g0239 a0001c0002t0186g0238 a0001c0002t0187g0244 a0001c0002t0188g0245 a0001c0002t0190g0248 a0001c0002t0191g0247 a0001c0002t0193g0250 a0001c0002t0195g0253 a0001c0002t0196g0252 a0001c0002t0197g0254 a0001c0002t0198g0255 a0001c0002t0200g0257	96	258	0.3721	-22	c.856 others(39): Show c.856+5962_856+5983delATATATATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152212310	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0069 a0001c0001t0006g0069	1	204	0.0049	-22	c.635 others(39): Show c.635-4188_635-4167delATTTTTTTTTTTTTTTTTTTTT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	6/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152216389	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01109.hp1 others(30): Show HG00609.hp1 HG00621.hp1 HG01109.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp2 HG02698.hp1 HG02717.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19063.hp1 NA19068.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0110 a0001c0001t0001g0154 a0001c0001t0001g0172 others(30): Show a0001c0001t0001g0110 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0003g0202 a0001c0001t0004g0008 a0001c0001t0004g0042	33	204	0.1618	-22	c.635 others(39): Show c.635-8267_635-8246delGTGTGTGTGTGTGTGTGTGTGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	6/9			chrX	TogoVar
GABRB1_chr4_47026567_47431447	47130325	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	158	0.0063	-22	c.241 others(41): Show c.241-30891_241-30870delTGTGTGTGTGTGTGTGTGTGTG	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246337	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG02922.hp2 others(3): Show HG02717.hp2 HG02896.hp1 HG02922.hp2 HG03225.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0002t0003 a0001c0003t0007 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0003t0007 a0001c0003t0012 a0001c0006t0006	a0001c0002t0002g0023 a0001c0002t0003g0019 a0001c0002t0003g0021 others(3): Show a0001c0002t0002g0023 a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0003t0007g0146 a0001c0003t0012g0139 a0001c0006t0006g0041	6	158	0.0380	-22	c.462 others(41): Show c.462-73752_462-73731delTATATATATATATATATATATA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47333190	TTATTTAT others(15): Show TTATTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp1 NA18906.hp2 HG02970.hp1 HG02976.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0008 a0001c0003t0005 a0001c0003t0008	a0001c0003t0005g0024 a0001c0003t0005g0026 a0001c0003t0008g0027 a0001c0003t0005g0024 a0001c0003t0005g0026 a0001c0003t0008g0027	3	158	0.0190	-22	c.544 others(41): Show c.544+12985_544+13006delTTATATATATATATATATATAT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161463549	TTTTATTT others(15): Show TTTTATTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	266	0.0038	-22	c.238 others(39): Show c.238-3727_238-3706delTATATATATATATATAAATAAA	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26609083	TACACACA others(15): Show TACACACACACACACACACATAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0056 a0001c0001t0008g0056	1	204	0.0049	-22	c.461 others(41): Show c.461+12209_461+12230delGTATGTGTGTGTGTGTGTGTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRE_chrX_151948124_151979676	151971845	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	326	0.0031	-22	c.57- others(37): Show c.57-1465_57-1444delGACACACACACACACACACACA	GABRE	ENSG00000102287.19	transcript	ENST00000370328.4	protein_coding	1/8			chrX	TogoVar
GABRG3_chr15_26966181_27546984	27313260	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp2 NA21309.hp1 HG02109.hp1 HG03209.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0004t0030 a0001c0001t0001 a0001c0004t0002 a0001c0004t0030	a0001c0001t0001g0071 a0001c0004t0002g0061 a0001c0004t0030g0063 a0001c0001t0001g0071 a0001c0004t0002g0061 a0001c0004t0030g0063	3	92	0.0326	-22	c.271 others(41): Show c.271-13547_271-13526delGTATATATATATATATATATAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89280211	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG02572.hp1 others(4): Show HG01109.hp2 HG02486.hp2 HG02572.hp1 HG02895.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0010 a0001c0001 a0002c0003 a0005c0010	a0001c0001t0001 a0002c0003t0002 a0002c0003t0004 others(1): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0004 a0005c0010t0002	a0001c0001t0001g0344 a0002c0003t0002g0329 a0002c0003t0002g0337 others(4): Show a0001c0001t0001g0344 a0002c0003t0002g0329 a0002c0003t0002g0337 a0002c0003t0002g0345 a0002c0003t0002g0351 a0002c0003t0004g0316 a0005c0010t0002g0343	7	366	0.0191	-22	c.221 others(39): Show c.221-8511_221-8490delATATATATATATATATATATAT	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GALC_chr14_87928014_87998182	87962578	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02071.hp1 HG02080.hp1 others(6): Show HG00609.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG02155.hp2 NA18987.hp2 NA19065.hp1 NA19074.hp2 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0165 a0002c0002t0002g0166 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0199	9	370	0.0243	-22	c.116 others(39): Show c.1161+784_1161+805delGTGTGTGTGTGTGTGTGTGTGT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	10/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49277137	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02698.hp1 HG02738.hp2 others(4): Show HG01167.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG03017.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0019 a0001c0002t0025 a0001c0001t0018 a0001c0002t0019 a0001c0002t0025	a0001c0001t0018g0117 a0001c0001t0018g0118 a0001c0001t0018g0119 others(4): Show a0001c0001t0018g0117 a0001c0001t0018g0118 a0001c0001t0018g0119 a0001c0002t0019g0128 a0001c0002t0019g0130 a0001c0002t0025g0129 a0001c0002t0025g0131	7	348	0.0201	-22	c.505 others(39): Show c.505-4822_505-4801delTTTTTTTTTTTTTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38675539	TTTTTTGT others(15): Show TTTTTTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0231 a0002c0002t0009g0231	1	328	0.0031	-22	c.191 others(37): Show c.191-371_191-350delTTTTGTGTGTGTGTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38675541	TTTTGTGT others(15): Show TTTTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	328	0.0031	-22	c.191 others(37): Show c.191-369_191-348delTTGTGTGTGTGTGTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	153963727	CTCTCTGT others(15): Show CTCTCTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03490.hp2 HG01081.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0032 a0001c0001t0021 a0001c0001t0032	a0001c0001t0021g0178 a0001c0001t0032g0077 a0001c0001t0021g0178 a0001c0001t0032g0077	2	214	0.0094	-22	c.142 others(41): Show c.142+19090_142+19111delCTCTGTGTGTGTGTGTGTGTGT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	153963729	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0173 a0001c0001t0016g0173	1	214	0.0047	-22	c.142 others(41): Show c.142+19092_142+19113delCTGTGTGTGTGTGTGTGTGTGT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154019633	CACACACA others(15): Show CACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0013 a0001c0001t0023g0013	1	214	0.0047	-22	c.142 others(41): Show c.142+74996_142+75017delCACACACACACACACACACAAA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110278	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01358.hp1 HG01943.hp1 others(1): Show HG01169.hp1 HG01358.hp1 HG01943.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0040	a0001c0001t0001g0011 a0001c0001t0008g0022 a0001c0001t0013g0151 others(1): Show a0001c0001t0001g0011 a0001c0001t0008g0022 a0001c0001t0013g0151 a0001c0001t0040g0082	4	214	0.0187	-22	c.143 others(41): Show c.143-30021_143-30000delTATATATATATATATATATATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110316	TATATATA others(15): Show TATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0085 a0001c0001t0075g0085	1	214	0.0047	-22	c.143 others(41): Show c.143-30019_143-29998delTATATATATATATATATATAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 9631 hits)