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 (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
FMN1_chr15_32760544_33199714	32950022	T T	TATATATA others(93): Show TATATATACACATACACATATATATATACACATATATATATACACATATA TATATACACATATATATATACACATATATATATACACATATATATATACA C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0009 a0006c0008t0009	a0006c0008t0009g0127 a0006c0008t0009g0127	1	196	0.0051	100	c.313 others(121): Show c.3138+14084_3138+14085insGTGTATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATGTGTATATAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FMNL1_chr17_45216885_45252318	45217518	C C	CTCCGTCC others(93): Show CTCCGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	384	0.0026	100	c.-46 others(111): Show c.-4607_-4606insTCCGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4366		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217538	T T	TTCCTTCC others(93): Show TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	384	0.0026	100	c.-45 others(111): Show c.-4587_-4586insTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4346		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217542	T T	TTCCTTCC others(93): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0013 a0005c0008t0001g0013	1	384	0.0026	100	c.-45 others(111): Show c.-4583_-4582insTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4342		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217542	T T	TTCCTTCC others(93): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0072 a0001c0004t0001g0072	1	384	0.0026	100	c.-45 others(111): Show c.-4583_-4582insTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4342		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217542	T T	TTCCTTCC others(93): Show TTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0012	1	384	0.0026	100	c.-45 others(111): Show c.-4583_-4582insTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4342		chr17	TogoVar
FMNL1_chr17_45216885_45252318	45217546	T T	TTCCTTCC others(93): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0062 a0005c0008t0001g0062	1	384	0.0026	100	c.-45 others(111): Show c.-4579_-4578insTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCC	FMNL1	ENSG00000184922.15	transcript	ENST00000331495.8	protein_coding		4338		chr17	TogoVar
FOXK1_chr7_4677295_4776442	4706015	T T	TATATATA others(93): Show TATATATATATACATATATATGTATATATATGTATATATACATGTATATA TATATACATATATATGTATATATATGTATGTATATATATACGTATATATA C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03041.hp1 HG03225.hp2 others(1): Show HG02257.hp1 HG03041.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0015 a0001c0003t0038 a0001c0004t0007 a0001c0003t0015 a0001c0003t0038 a0001c0004t0007	a0001c0003t0015g0066 a0001c0003t0015g0094 a0001c0003t0038g0208 others(1): Show a0001c0003t0015g0066 a0001c0003t0015g0094 a0001c0003t0038g0208 a0001c0004t0007g0263	4	294	0.0136	100	c.560 others(119): Show c.560+23154_560+23155insTATACATATATATGTATATATATGTA TATATACATGTATATATATATACATATATATGTATATATATGTATGTATA TATATACGTATATATACATATATA	FOXK1	ENSG00000164916.11	transcript	ENST00000328914.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
FOXK2_chr17_82514732_82609602	82586353	C C	CAGTGGGG others(93): Show CAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGC G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0160 a0001c0001t0027g0160	1	308	0.0033	100	c.157 others(117): Show c.1576+153_1576+154insAGTGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTAGGCG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586401	C C	CCGGGGGG others(93): Show CCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCC G	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0281 a0001c0001t0004g0281	1	308	0.0033	100	c.157 others(117): Show c.1576+201_1576+202insCGGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAAGTCAAAGGTGGGCCG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXP1_chr3_70949708_71588728	71396712	T T	TAAGAAGA others(93): Show TAAGAAGACACGGAGCTTGCAGTGAGCTGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0040 a0001c0001t0034g0040	1	96	0.0104	100	c.-16 others(121): Show c.-167-37469_-167-37468insTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCA GCTCACTGCAAGCTCCGTGTCTTCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435881	A A	AAGGGACG others(93): Show AAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAG G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0064 a0001c0001t0042 a0001c0001t0064	a0001c0001t0042g0059 a0001c0001t0064g0085 a0001c0001t0042g0059 a0001c0001t0064g0085	2	96	0.0208	100	c.-16 others(121): Show c.-168+57544_-168+57545insCCTTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317175	C C	CGCCCCCC others(93): Show CGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCTCCTCCCGCCCCCT CCTCCAGCCTACCCCCTCCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0000 a0004c0003t0005g0000	1	406	0.0025	100	c.32 others(111): Show c.3259_*3260insGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACC CTCCTCCCGCCCCCTCCTCCAGCCTACCCCCTCCCCCCCACCCATCCCTC CTCCCGCCCCCCTCCA	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2418		chr6	TogoVar
FRMD1_chr6_168048095_168084212	168078612	G G	GGCCCTGC others(93): Show GGCCCTGCTCACCCCCACAGCCCTGCTCACCCCCACGGCCCTGCTCACCC CCACGGCCACCCAGGGCCCTGCTCACCCCCATGGCTCTGCTCACCCCCAC A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0013 a0003c0006t0013	a0003c0006t0013g0082 a0003c0006t0013g0082	1	402	0.0025	100	c.213 others(115): Show c.213+269_213+270insTGTGGGGGTGAGCAGAGCCATGGGGGTGAG CAGGGCCCTGGGTGGCCGTGGGGGTGAGCAGGGCCGTGGGGGTGAGCAGG GCTGTGGGGGTGAGCAGGGC	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FRMD3_chr9_83239622_83543401	83479624	A A	AAAGGAAA others(93): Show AAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03209.hp2 HG02004.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0158 a0001c0001t0013g0167 a0001c0001t0001g0158 a0001c0001t0013g0167	2	242	0.0083	100	c.147 others(119): Show c.147+58460_147+58461insCCTTCCTTCCTTCCTTCCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCCTT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FSTL5_chr4_161378897_162169000	161783675	T T	TTCCCTTC others(93): Show TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0127 a0003c0005t0009g0127	1	142	0.0070	100	c.410 others(117): Show c.410-7602_410-7601insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGGA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161783677	C C	CCCTTCCT others(93): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	142	0.0070	100	c.410 others(117): Show c.410-7604_410-7603insAAGAAAGAAAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161783677	C C	CCCTTCCT others(93): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0088 a0001c0002t0018g0088	1	142	0.0070	100	c.410 others(117): Show c.410-7604_410-7603insAAGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FTCD_chr21_46131779_46160579	46140442	T T	TGTAAACC others(93): Show TGTAAACCAACCCAGCACTCCTCGTCCACCTTCACGTGGCTCACAGGGAG TGTAAACCAATCCAGCACTCCCCGTCTGCCTTCACATTGCTCACAGGGAG C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	230	0.0044	100	c.126 others(119): Show c.1261-1520_1261-1519insGCTCCCTGTGAGCAATGTGAAGGCAG ACGGGGAGTGCTGGATTGGTTTACACTCCCTGTGAGCCACGTGAAGGTGG ACGAGGAGTGCTGGGTTGGTTTAC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46140843	C C	CGTAAACC others(93): Show CGTAAACCAATCCAGCACTCCCCGTCTGCCTTCACATTGCTCACAGGGAG CGTAAACCAATCCAGCACTCCCCGTCCACCTTCACGTGGCTCACAGGGAG T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(140): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(27): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0022 a0001c0032 a0001c0035 a0002c0005 a0002c0006 a0002c0011 a0002c0016 a0002c0018 a0003c0007 a0003c0014 a0003c0015 a0003c0034 a0004c0008 a0005c0012 a0005c0017 a0006c0013 a0007c0036 a0008c0019 a0010c0026 a0011c0029 a0012c0028 a0013c0030 a0014c0027 a0016c0033 a0017c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0010t0002 a0001c0022t0003 a0001c0032t0001 a0001c0035t0002 a0002c0005t0001 a0002c0006t0001 a0002c0006t0002 a0002c0006t0004 a0002c0011t0002 a0002c0016t0001 a0002c0018t0002 a0003c0007t0002 a0003c0014t0001 a0003c0015t0002 a0003c0034t0002 a0004c0008t0001 a0004c0008t0007 a0005c0012t0001 a0005c0012t0009 a0005c0017t0001 a0006c0013t0001 a0007c0036t0001 a0008c0019t0001 a0010c0026t0001 a0011c0029t0001 a0012c0028t0001 a0013c0030t0001 a0014c0027t0002 a0016c0033t0002 a0017c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0021 others(133): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0002g0048 a0001c0001t0002g0143 a0001c0001t0004g0006 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0223 a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0007g0022 a0001c0001t0007g0170 a0001c0001t0008g0211 a0001c0002t0001g0005 a0001c0002t0001g0042 a0001c0002t0001g0049 a0001c0002t0001g0084 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0160 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0197 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0017 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0050 a0001c0002t0002g0061 a0001c0002t0002g0091 a0001c0002t0002g0107 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0190 a0001c0002t0004g0204 a0001c0002t0008g0220 a0001c0003t0002g0081 a0001c0003t0003g0089 a0001c0003t0003g0174 a0001c0003t0005g0212 a0001c0004t0001g0165 a0001c0004t0002g0016 a0001c0004t0002g0030 a0001c0004t0002g0031 a0001c0004t0002g0069 a0001c0004t0002g0100 a0001c0004t0002g0148 a0001c0004t0002g0149 a0001c0004t0008g0222 a0001c0010t0002g0199 a0001c0010t0002g0200 a0001c0022t0003g0193 a0001c0032t0001g0182 a0001c0035t0002g0191 a0002c0005t0001g0011 a0002c0005t0001g0026 a0002c0005t0001g0028 a0002c0005t0001g0066 a0002c0005t0001g0067 a0002c0005t0001g0146 a0002c0005t0001g0194 a0002c0006t0001g0099 a0002c0006t0002g0183 a0002c0006t0004g0202 a0002c0006t0004g0203 a0002c0011t0002g0062 a0002c0011t0002g0098 a0002c0016t0001g0025 a0002c0018t0002g0129 a0003c0007t0002g0077 a0003c0007t0002g0078 a0003c0007t0002g0135 a0003c0007t0002g0136 a0003c0007t0002g0138 a0003c0014t0001g0118 a0003c0014t0001g0137 a0003c0015t0002g0007 a0003c0034t0002g0117 a0004c0008t0001g0168 a0004c0008t0007g0015 a0004c0008t0007g0063 a0004c0008t0007g0079 a0005c0012t0001g0027 a0005c0012t0009g0014 a0005c0017t0001g0060 a0006c0013t0001g0004 a0007c0036t0001g0024 a0008c0019t0001g0057 a0010c0026t0001g0033 a0011c0029t0001g0090 a0012c0028t0001g0009 a0013c0030t0001g0172 a0014c0027t0002g0073 a0016c0033t0002g0164 a0017c0024t0001g0150	143	230	0.6217	100	c.126 others(119): Show c.1261-1921_1261-1920insACTCCCTGTGAGCCACGTGAAGGTGG ACGGGGAGTGCTGGATTGGTTTACGCTCCCTGTGAGCAATGTGAAGGCAG ACGGGGAGTGCTGGATTGGTTTAC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46140866	G G	GTCTGCCT others(93): Show GTCTGCCTTCACATTGCTCACAGGGAGCGTAAACCAATCCAGCACTCCCC GTCCACCTTCACGTGGCTCACAGGGAGTGTAAACCAATCCAGCACTCCCC A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0184 a0001c0031t0001g0184	1	230	0.0044	100	c.126 others(119): Show c.1261-1944_1261-1943insTGGGGAGTGCTGGATTGGTTTACACT CCCTGTGAGCCACGTGAAGGTGGACGGGGAGTGCTGGATTGGTTTACGCT CCCTGTGAGCAATGTGAAGGCAGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46140916	G G	GTCCACCT others(93): Show GTCCACCTTCACGTGGCTCACAGGGAGTGTAAACCAATCCAGCACTCCCC GTCTGCCTTCACATTGCTCACAGGGAGCGTAAACCAATCCAGCACTCCCC A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	230	0.0044	100	c.126 others(119): Show c.1261-1994_1261-1993insTGGGGAGTGCTGGATTGGTTTACGCT CCCTGTGAGCAATGTGAAGGCAGACGGGGAGTGCTGGATTGGTTTACACT CCCTGTGAGCCACGTGAAGGTGGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FXR2_chr17_7586230_7619897	7609955	C C	CATATATA others(93): Show CATATATATACATGTATATGTATACATATATATACATGTATATGTATACA TATATATACATGTATATGTATACATATATATATACATGTATATGTATACA T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	426	0.0024	100	c.82- others(115): Show c.82-3807_82-3806insATGTATACATATACATGTATATATATATGT ATACATATACATGTATATATATGTATACATATACATGTATATATATGTAT ACATATACATGTATATATAT	FXR2	ENSG00000129245.13	transcript	ENST00000250113.12	protein_coding	1/16			chr17	TogoVar
GABBR2_chr9_98283109_98713935	98393349	A A	ATCCATCC others(93): Show ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACACAC CCACTCATCCACCCAACCATCCATCCATCCACTCATCCACCAGCCCAACC T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02280.hp1 others(3): Show HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02630.hp2 HG03486.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0012 others(1): Show a0001c0001 a0002c0004 a0002c0012 a0002c0019	a0001c0001t0011 a0001c0001t0017 a0001c0001t0043 others(3): Show a0001c0001t0011 a0001c0001t0017 a0001c0001t0043 a0002c0004t0006 a0002c0012t0002 a0002c0019t0006	a0001c0001t0011g0061 a0001c0001t0017g0057 a0001c0001t0043g0077 others(3): Show a0001c0001t0011g0061 a0001c0001t0017g0057 a0001c0001t0043g0077 a0002c0004t0006g0112 a0002c0012t0002g0017 a0002c0019t0006g0067	6	164	0.0366	100	c.137 others(117): Show c.1378+825_1378+826insAGGTTGGGCTGGTGGATGAGTGGATGGA TGGATGGTTGGGTGGATGAGTGGGTGTGTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGA	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98577127	C C	CATGGATG others(93): Show CATGGATGGATGGATGGATGGATGGATGGTTAGGCGAATGGATGGGTGAA CATATGGATGGATGGATAGGTGAATGGATGGATGGATGGATGGATGGATG G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01433.hp1 HG01070.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0162 a0001c0002t0001g0163	2	164	0.0122	100	c.459 others(115): Show c.459+708_459+807dupCCATCCATCCATCCATCCATCCATCCATTC ACCTATCCATCCATCCATATGTTCACCCATCCATTCGCCTAACCATCCAT CCATCCATCCATCCATCCAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	2/18			chr9	TogoVar
GABRG1_chr4_46030769_46129054	46117879	T T	TGTGTATC others(93): Show TGTGTATCTATATACATATATACATATGTATACATGTGTATCTATATACA TATATACATATGTATACATGTGTATCTATATACATATATACATATGTATA C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0255 a0001c0002t0002g0255	1	308	0.0033	100	c.104 others(117): Show c.104+5831_104+5930dupGTATACATATGTATATATGTATATAGAT ACACATGTATACATATGTATATATGTATATAGATACACATGTATACATAT GTATATATGTATATAGATACAC	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG3_chr15_26966181_27546984	27388114	A A	AAGGAAGG others(93): Show AAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAG GAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAG G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0056 a0001c0007t0004g0056	1	92	0.0109	100	c.574 others(119): Show c.574+59270_574+59271insGAAAGGAGGAAGGAAGGAAAGGAGGG AGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGAGGG AGGGAGGGTAAGGAAGGAAGGAAG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT9_chr12_132191372_132334589	132244777	A A	ATGGGGGC others(93): Show ATGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGAT GGGGGCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGAC G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02027.hp1 others(8): Show HG00408.hp1 HG00408.hp2 HG02027.hp1 HG02683.hp1 HG02698.hp1 NA18952.hp2 NA18964.hp2 NA18999.hp2 NA19002.hp2 NA19067.hp1 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0001c0013 a0001c0020 others(3): Show a0001c0011 a0001c0013 a0001c0020 a0001c0034 a0001c0039 a0003c0033	a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 others(3): Show a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0001c0034t0004 a0001c0039t0006 a0003c0033t0001	a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 others(8): Show a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0011t0001g0129 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0013t0004g0124 a0001c0020t0001g0115 a0001c0034t0004g0158 a0001c0039t0006g0001 a0003c0033t0001g0114	11	183	0.0601	100	c.107 others(119): Show c.1077+3132_1077+3133insCGTCCAGCCCCATCACCACGCCCCCC CGTCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCA TCCAGCCCCATCACCACGCCCCCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALP_chr19_56171008_56190775	56176044	A A	AGCTGCCA others(93): Show AGCTGCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGC GGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTC G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01192.hp1 HG02451.hp1 HG01192.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0061 a0001c0001t0015g0062 a0001c0001t0015g0061 a0001c0001t0015g0062	2	444	0.0045	100	c.-45 others(107): Show c.-45_-44insCCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/6	1051	INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176044	A A	AGCTGCCA others(93): Show AGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGT GGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGC G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0219 a0001c0002t0029g0219	1	444	0.0023	100	c.-40 others(113): Show c.-40+30_-40+31insTGGATCCCAGCTGCACCGGGGTGAGAGCCTAG GCCAGGAGGGCACAGGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAG GCCAGGAGGGCAGAGGGG	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176048	G G	GCCAGCTG others(93): Show GCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGAT CCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGAT C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0213 a0001c0001t0020g0213	1	444	0.0023	100	c.-45 others(107): Show c.-45_-44insCCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/6	1051	INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176142	T T	TCGGCTGC others(93): Show TCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGG GCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGG G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02818.hp2 others(3): Show HG02109.hp2 HG02572.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0133 a0001c0001t0003g0134 others(2): Show a0001c0001t0003g0021 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136	6	444	0.0135	100	c.-40 others(115): Show c.-40+135_-40+136insCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGCTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGAT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176258	G G	GCGGGGTG others(93): Show GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	444	0.0023	100	c.-40 others(115): Show c.-40+286_-40+385dupCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGAT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176287	G G	GAGGGGCG others(93): Show GAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA CAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCA C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	444	0.0023	100	c.-40 others(115): Show c.-40+235_-40+236insGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCACAGGGGCGGAT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176458	G G	GCGGGGTG others(93): Show GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGGCTGCCAGCTGCA C	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18999.hp1 HG00621.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0088 a0001c0002t0002g0085 a0001c0002t0002g0088	2	444	0.0045	100	c.-40 others(115): Show c.-40+435_-40+436insGCCAGCTGCAGCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGTGGCTGCCAGCTGCACCGGGGTGAGAGCCTAGGCC AGGAGGGCAGAGGGGCGGAT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALR1_chr18_77244848_77282900	77258845	G G	GTGGTGGT others(93): Show GTGGTGGTGATGGTGGTGATGATGGTGGTCATAGTGGTGATGGTGGTGGG CGGTAGTGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGCTGGTG A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0070 a0001c0001t0109g0070	1	366	0.0027	100	c.732 others(117): Show c.732+2639_732+2640insATGATGGTGGTCATAGTGGTGATGGTGG TGGGCGGTAGTGGTGGTGATGGTGGTGGTGGTCATAGTGGTGGTGGTGCT GGTGATGGTGGTGATGGTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259015	G G	GTGTTGGT others(93): Show GTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTGGTCATGGT GGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTG A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03491.hp1 HG03490.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0139 a0001c0001t0003 a0001c0002t0139	a0001c0001t0003g0139 a0001c0002t0139g0192 a0001c0001t0003g0139 a0001c0002t0139g0192	2	366	0.0055	100	c.732 others(117): Show c.732+2800_732+2801insGTGGTCATGGTGGTCATGGTGGTGATGA TGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGT CACAGTGGTGGTGATGTTGGTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259284	A A	ATGGTGGT others(93): Show ATGGTGGTGATGACGGTGATGATGATGGTGGTCATGGTGGCGATTGTGGT GATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTG G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19074.hp2 NA18947.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0230 a0001c0001t0032g0231 a0001c0001t0032g0230 a0001c0001t0032g0231	2	366	0.0055	100	c.732 others(117): Show c.732+3068_732+3069insGATGACGGTGATGATGATGGTGGTCATG GTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGG TGGTGTTGGTGTTGGTGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GBP2_chr1_89101132_89131114	89128356	C C	CGCCCGCC others(93): Show CGCCCGCCTACCCAGAACTCCAGCTGGCCCGCCCACCCGGAACTCCAGCT GGCCCGCCCACCCGGAACTCCAGCTGGCCCGCCCACCCGGAACTCCAGCT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG03225.hp1 HG02717.hp1 HG02723.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0054 a0001c0001t0010g0025 a0001c0001t0010g0054	3	414	0.0073	100	c.-25 others(111): Show c.-2512_-2511insCAGCTGGAGTTCCGGGTGGGCGGGCCAGCTGGAG TTCCGGGTGGGCGGGCCAGCTGGAGTTCCGGGTGGGCGGGCCAGCTGGAG TTCTGGGTAGGCGGGC	GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding		2243		chr1	TogoVar
GBP7_chr1_89126742_89181003	89128356	C C	CGCCCGCC others(93): Show CGCCCGCCTACCCAGAACTCCAGCTGGCCCGCCCACCCGGAACTCCAGCT GGCCCGCCCACCCGGAACTCCAGCTGGCCCGCCCACCCGGAACTCCAGCT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG03225.hp2 HG02717.hp2 HG02723.hp2 HG03225.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0033 a0005c0006t0002g0090 a0005c0006t0002g0033 a0005c0006t0002g0090	3	376	0.0080	100	c.37 others(111): Show c.3792_*3793insCAGCTGGAGTTCCGGGTGGGCGGGCCAGCTGGAG TTCCGGGTGGGCGGGCCAGCTGGAGTTCCGGGTGGGCGGGCCAGCTGGAG TTCTGGGTAGGCGGGC	GBP7	ENSG00000213512.3	transcript	ENST00000294671.3	protein_coding		3385		chr1	TogoVar
GGT1_chr22_24598193_24633996	24605776	T T	TATAATAT others(93): Show TATAATATTATATATAATATATAATATTATATATTATATATAATATATAA TATTATATATTATATATAATATATAATATTATATATTACATATAATATAT A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	426	0.0024	100	c.-42 others(119): Show c.-428-2178_-428-2177insATAATATTATATATAATATATAATAT TATATATTATATATAATATATAATATTATATATTATATATAATATATAAT ATTATATATTACATATAATATATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(93): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAA A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG03041.hp1 HG02109.hp2 HG02615.hp2 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0024 a0001c0003t0002g0024	3	464	0.0065	100	c.204 others(115): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AGAGAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(93): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01978.hp2 others(2): Show HG00642.hp2 HG00738.hp1 HG01978.hp2 HG01993.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0083 a0001c0003t0002g0017 a0001c0003t0002g0083	5	464	0.0108	100	c.204 others(115): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAA AGAAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(93): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAA A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG03195.hp1 others(1): Show HG02257.hp1 HG02647.hp2 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0018 a0001c0003t0002g0018	4	464	0.0086	100	c.204 others(115): Show c.204+500_204+501insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AGAGAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATATATAT others(93): Show ATATATATATATATATGTATATATATATATATATATATATATATGTATAT ATATATATATATATATATATATATGTATATATATATATATATATATTTTT T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0237 a0001c0004t0001g0237	1	342	0.0029	100	c.335 others(117): Show c.335-9639_335-9638insAAAAAATATATATATATATATATATACA TATATATATATATATATATATATATATACATATATATATATATATATATA TATATACATATATATATATATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLI3_chr7_41955949_42242209	42182656	A A	ATATATAT others(93): Show ATATATATATATATATATATATATACGTGTGTATATATATATATATATAT ACATGTGTGTGTATATATATATATATATATATATATATATATACATGTGT G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0084 a0001c0001t0011g0084	1	158	0.0063	100	c.125 others(119): Show c.125-34189_125-34188insCACACATGTATATATATATATATATA TATATATATATATACACACACATGTATATATATATATATATATACACACG TATATATATATATATATATATATA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42182666	A A	ATATATAT others(93): Show ATATATATATATATATATATATACATGTGTGTGTATATATATATATATAT ATATATATATATATACATGTGTGTATATATATATATATATATACATGTGT G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0024 a0001c0001t0008 a0001c0001t0024	a0001c0001t0008g0129 a0001c0001t0024g0004 a0001c0001t0008g0129 a0001c0001t0024g0004	2	158	0.0127	100	c.125 others(119): Show c.125-34199_125-34198insCACACATGTATATATATATATATATA TACACACATGTATATATATATATATATATATATATATATATACACACACA TGTATATATATATATATATATATA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLT1D1_chr12_128848478_128989968	128879378	T T	TTTTCTTT others(93): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	320	0.0031	100	c.217 others(117): Show c.217+3399_217+3400insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLYR1_chr16_4798203_4852288	4804933	C C	CTGTGTGT others(93): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0214 a0001c0001t0022g0214	1	352	0.0028	100	c.30 others(109): Show c.302_*303insCACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACA	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding	16/16	302		chr16	TogoVar
GMEB2_chr20_63582605_63632101	63608834	A A	ACACCTCC others(93): Show ACACCTCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTCTAGA AACATGCCCCTCTGACCCCACCTCCATTTCTAGAAACATGCCCCTCTGAC C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0091 a0001c0004t0004g0091	1	330	0.0030	100	c.132 others(117): Show c.132-3995_132-3994insGGTCAGAGGGGCATGTTTCTAGAAATGG AGGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGTCAGAGGGG CATGTTTCTAGAAATGGAGGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar

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