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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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
GBP2_chr1_89101132_89131114	89101183	TAAACTTG others(14): Show TAAACTTGTAGCACTACTAATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	-21	c.69 others(32): Show c.6971_*6991delGATTAGTAGTGCTACAAGTTT		GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding					4948		chr1	TogoVar
GCC2_chr2_108444206_108514415	108502618	TACATTCT others(14): Show TACATTCTCTCTTAAAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03453.hp2 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0045 a0001c0019t0010 a0001c0001t0045 a0001c0019t0010	a0001c0001t0045g0153 a0001c0019t0010g0154 a0001c0001t0045g0153 a0001c0019t0010g0154	2	276	0.0073	-21	c.498 others(40): Show c.4984+2865_4984+2885delACATTCTCTCTTAAAGAGAGA		GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	22/22						chr2	TogoVar
GCK_chr7_44139275_44194439	44174848	CTCTTCCT others(14): Show CTCTTCCTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	392	0.0026	-21	c.45+ others(38): Show c.45+14040_45+14060delAGAAGAAGAAGAAGAGGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCK_chr7_44139275_44194439	44174854	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03688.hp2 HG01109.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0210 a0001c0001t0005g0147 a0001c0001t0001g0210 a0001c0001t0005g0147	2	392	0.0051	-21	c.45+ others(38): Show c.45+14034_45+14054delAGAAGAAGAAGAAGAAGAAGA		GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9						chr7	TogoVar
GCM1_chr6_53121961_53153841	53142000	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0247 a0001c0005t0001g0247	1	412	0.0024	-21	c.75+ others(36): Show c.75+3537_75+3557delTTTTTTTTTTTTTTTTTTTTT		GCM1	ENSG00000137270.11	transcript	ENST00000259803.8	protein_coding	2/5						chr6	TogoVar
GDPD2_chrX_70418314_70438381	70438096	ATGCACTC others(14): Show ATGCACTCCTTACCAGGACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00609.hp1 others(34): Show HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG02080.hp1 HG02165.hp2 HG02273.hp2 HG02698.hp1 HG02735.hp1 HG03098.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18945.hp1 NA18948.hp1 NA18953.hp1 NA18960.hp1 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18997.hp1 NA19005.hp1 NA19007.hp1 NA19030.hp1 NA19062.hp1 NA19076.hp1 NA19081.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0002t0001g0004 a0001c0003t0001g0032 a0001c0006t0001g0021	37	318	0.1164	-21	c.50 others(32): Show c.5011_*5031delTGCACTCCTTACCAGGACCTT		GDPD2	ENSG00000130055.14	transcript	ENST00000374382.4	protein_coding					4716		chrX	TogoVar
GDPD5_chr11_75429640_75530941	75433605	CATGTGGG others(14): Show CATGTGGGGCGGGGGGCACAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0191 a0001c0001t0012g0191	1	322	0.0031	-21	c.18 others(32): Show c.1881_*1901delACTGTGCCCCCCGCCCCACAT		GDPD5	ENSG00000158555.15	transcript	ENST00000336898.8	protein_coding					1034		chr11	TogoVar
GDPGP1_chr15_90229209_90250811	90246787	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02451.hp2 HG02717.hp2 others(9): Show HG01978.hp2 HG02451.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0054 a0005c0005t0016 others(3): Show a0001c0001t0001 a0001c0001t0054 a0005c0005t0016 a0005c0005t0053 a0005c0005t0128 a0005c0005t0129	a0001c0001t0001g0039 a0001c0001t0054g0048 a0005c0005t0016g0018 others(7): Show a0001c0001t0001g0039 a0001c0001t0054g0048 a0005c0005t0016g0018 a0005c0005t0016g0050 a0005c0005t0016g0105 a0005c0005t0016g0106 a0005c0005t0053g0018 a0005c0005t0053g0050 a0005c0005t0128g0018 a0005c0005t0129g0018	12	438	0.0274	-21	c.47 others(32): Show c.4722_*4742delAAAAAAAAAAAAAAAAAAAAA		GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding					977		chr15	TogoVar
GFER_chr16_1979193_1992749	1984463	GGACGCAG others(14): Show GGACGCAGCAGAAGGTGCAGTT	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0014 a0003c0005t0001g0014	1	426	0.0024	-21	c.246 others(30): Show c.246_258+8delGACGCAGCAGAAGGTGCAGTT	p.Thr others(4): Show p.Thr83fs	GFER	ENSG00000127554.13	transcript	ENST00000248114.7	protein_coding	1/3	272/2365	246/618	82/205			chr16	TogoVar
GFOD1_chr6_13352830_13492600	13475719	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0173 a0001c0001t0117g0173	1	230	0.0044	-21	c.253 others(40): Show c.253+10898_253+10918delATTATTATTATTATTATTATT		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GFPT2_chr5_180295698_180358336	180353280	CCTCCGTG others(14): Show CCTCCGTGGGCTCCTCCGTGGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02970.hp1 others(1): Show HG02486.hp2 HG02965.hp2 HG02970.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0030 a0001c0005t0017 a0001c0005t0029 a0001c0004t0030 a0001c0005t0017 a0001c0005t0029	a0001c0004t0030g0368 a0001c0005t0017g0369 a0001c0005t0017g0371 others(1): Show a0001c0004t0030g0368 a0001c0005t0017g0369 a0001c0005t0017g0371 a0001c0005t0029g0370	4	412	0.0097	-21	c.-84 others(28): Show c.-84_-64delCCCACGGAGGAGCCCACGGAG		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	1/19				64		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116064037	AATCATCA others(14): Show AATCATCATCATGATCATGATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(53): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01243.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01934.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp2 HG04115.hp2 NA18522.hp1 NA18941.hp1 NA18950.hp1 NA18952.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18975.hp1 NA18984.hp1 NA18989.hp2 NA18993.hp1 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0013 a0002c0003 a0002c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(43): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0075 a0001c0001t0078 a0001c0001t0103 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0125 a0001c0001t0127 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0001c0002t0027 a0001c0002t0053 a0001c0002t0076 a0001c0002t0101 a0001c0002t0102 a0001c0005t0050 a0001c0005t0068 a0001c0010t0109 a0001c0013t0005 a0002c0003t0005 a0002c0003t0008 a0002c0003t0011 a0002c0003t0077 a0002c0003t0104 a0002c0003t0108 a0002c0004t0025 a0002c0004t0054 a0002c0004t0110	a0001c0001t0005g0088 a0001c0001t0007g0008 a0001c0001t0007g0021 others(53): Show a0001c0001t0005g0088 a0001c0001t0007g0008 a0001c0001t0007g0021 a0001c0001t0007g0025 a0001c0001t0008g0020 a0001c0001t0008g0031 a0001c0001t0008g0035 a0001c0001t0010g0179 a0001c0001t0010g0185 a0001c0001t0011g0152 a0001c0001t0013g0143 a0001c0001t0013g0194 a0001c0001t0014g0147 a0001c0001t0015g0181 a0001c0001t0015g0184 a0001c0001t0016g0153 a0001c0001t0025g0119 a0001c0001t0049g0148 a0001c0001t0051g0203 a0001c0001t0052g0195 a0001c0001t0075g0165 a0001c0001t0078g0002 a0001c0001t0103g0104 a0001c0001t0105g0042 a0001c0001t0106g0113 a0001c0001t0107g0109 a0001c0001t0125g0105 a0001c0001t0127g0132 a0001c0002t0005g0057 a0001c0002t0005g0106 a0001c0002t0007g0022 a0001c0002t0010g0180 a0001c0002t0011g0199 a0001c0002t0014g0196 a0001c0002t0016g0150 a0001c0002t0026g0058 a0001c0002t0026g0110 a0001c0002t0027g0052 a0001c0002t0027g0116 a0001c0002t0053g0145 a0001c0002t0076g0038 a0001c0002t0101g0066 a0001c0002t0102g0054 a0001c0005t0050g0176 a0001c0005t0068g0175 a0001c0010t0109g0068 a0001c0013t0005g0062 a0002c0003t0005g0098 a0002c0003t0008g0023 a0002c0003t0011g0178 a0002c0003t0077g0018 a0002c0003t0104g0069 a0002c0003t0108g0072 a0002c0004t0025g0124 a0002c0004t0054g0210 a0002c0004t0110g0117	56	214	0.2617	-21	c.34 others(30): Show c.340_*360delCATCATGATCATGATGATGAT		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	11/11				340		chr10	TogoVar
GFRA1_chr10_116051925_116278206	116064868	CACGTTGC others(14): Show CACGTTGCACAGGTAACTGACA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02109.hp2 HG02647.hp2 others(1): Show HG00738.hp2 HG02109.hp2 HG02647.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0047 a0001c0001t0074 a0001c0005t0046 others(1): Show a0001c0001t0047 a0001c0001t0074 a0001c0005t0046 a0002c0003t0048	a0001c0001t0047g0169 a0001c0001t0074g0161 a0001c0005t0046g0174 others(1): Show a0001c0001t0047g0169 a0001c0001t0074g0161 a0001c0005t0046g0174 a0002c0003t0048g0171	4	214	0.0187	-21	c.125 others(38): Show c.1252-345_1252-325delTGTCAGTTACCTGTGCAACGT		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	10/10						chr10	TogoVar
GFRA3_chr5_138247380_138279621	138258166	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	376	0.0027	-21	c.473 others(36): Show c.473-236_473-216delAAAAAAAAAAAAAAAAAAAAA		GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding	3/7						chr5	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA20300.hp1 HG01358.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0297 a0001c0001t0002g0296 a0001c0001t0001g0297 a0001c0001t0002g0296	2	357	0.0056	-21	c.93+ others(36): Show c.93+2815_93+2835delAAAAAAAAAAAAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36587573	CTTTGTAA others(14): Show CTTTGTAAAGTTAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	357	0.0028	-21	c.189 others(38): Show c.1890+329_1890+349delTTTGTAAAGTTAAAAAAAAAA		GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	13/13						chr17	TogoVar
GGT1_chr22_24598193_24633996	24605234	ATATTATA others(14): Show ATATTATATATTATATAATATG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02055.hp2 HG02622.hp1 others(7): Show HG01993.hp1 HG02055.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG03471.hp2 NA18963.hp1 NA18982.hp2 NA19009.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0021 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0006t0021 a0002c0002t0002 a0002c0002t0007	a0001c0001t0001g0174 a0001c0001t0001g0235 a0001c0001t0001g0236 others(7): Show a0001c0001t0001g0174 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0006t0021g0029 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0007g0021 a0002c0002t0007g0027	10	426	0.0235	-21	c.-42 others(40): Show c.-429+1833_-429+1853delGTATTATATATTATATAATAT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT6_chr17_4551927_4565577	4564680	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0014 a0003c0006t0014	a0003c0006t0014g0028 a0003c0006t0014g0028	1	458	0.0022	-21	c.-41 others(32): Show c.-4180_-4160delGAAAGAAAGAAAGAAAGAAAG		GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding					4104		chr17	TogoVar
GGT6_chr17_4551927_4565577	4564681	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG03209.hp1 NA18954.hp2 others(2): Show HG00408.hp2 HG03209.hp1 NA18954.hp2 NA18997.hp1 NA19065.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0010 a0002c0003 a0006c0010	a0002c0003t0003 a0002c0003t0018 a0006c0010t0012 a0002c0003t0003 a0002c0003t0018 a0006c0010t0012	a0002c0003t0003g0004 a0002c0003t0018g0060 a0006c0010t0012g0023 a0002c0003t0003g0004 a0002c0003t0018g0060 a0006c0010t0012g0023	5	458	0.0109	-21	c.-41 others(32): Show c.-4181_-4161delAGAAAGAAAGAAAGAAAGAAA		GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding					4105		chr17	TogoVar
GIGYF1_chr7_100674507_100699250	100694312	ACCGCCGC others(14): Show ACCGCCGCCGCCGCCGCCGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01257.hp1 HG01258.hp2 others(4): Show HG01109.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG02451.hp2 HG03688.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 others(1): Show a0001c0001 a0001c0003 a0001c0011 a0001c0022	a0001c0001t0028 a0001c0001t0048 a0001c0003t0006 others(4): Show a0001c0001t0028 a0001c0001t0048 a0001c0003t0006 a0001c0003t0073 a0001c0011t0006 a0001c0011t0023 a0001c0022t0006	a0001c0001t0028g0103 a0001c0001t0048g0111 a0001c0003t0006g0011 others(4): Show a0001c0001t0028g0103 a0001c0001t0048g0111 a0001c0003t0006g0011 a0001c0003t0073g0214 a0001c0011t0006g0216 a0001c0011t0023g0215 a0001c0022t0006g0217	7	398	0.0176	-21	c.-13 others(32): Show c.-1322_-1302delCGGCGGCGGCGGCGGCGGCGG		GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding					63		chr7	TogoVar
GIGYF2_chr2_232692331_232865605	232798979	AATCTGTT others(14): Show AATCTGTTTCTATGAATTTTCT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0353 a0001c0002t0001g0353	1	376	0.0027	-21	c.163 others(40): Show c.1639+2778_1639+2798delCTATCTGTTTCTATGAATTTT		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	14/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232847499	TCAGCAGC others(14): Show TCAGCAGCAGCAGCTGCCACAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01175.hp2 NA20905.hp1 HG01175.hp2 NA20905.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0011 a0005c0009t0011	a0005c0009t0011g0328 a0005c0009t0011g0355 a0005c0009t0011g0328 a0005c0009t0011g0355	2	376	0.0053	-21	c.362 others(30): Show c.3626_3646delTGCCACAGCAGCAGCAGCAGC	p.Leu others(15): Show p.Leu1209_Gln1215del	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	27/29	3797/7816	3626/3900	1209/1299		INFO_REALIGN_3_PRIME	chr2	TogoVar
GINM1_chr6_149561375_149596748	149562296	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 NA18939.hp1 NA20300.hp1 HG01928.hp1 NA18939.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0177 a0001c0001t0007g0026 a0001c0001t0007g0225 a0001c0001t0003g0177 a0001c0001t0007g0026 a0001c0001t0007g0225	3	380	0.0079	-21	c.-41 others(32): Show c.-4118_-4098delTATATATATATATATATATAT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4078		chr6	TogoVar
GINM1_chr6_149561375_149596748	149570135	TTTATATA others(14): Show TTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp2 HG03669.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0124 a0001c0001t0003g0123 a0001c0001t0002g0124 a0001c0001t0003g0123	2	380	0.0053	-21	c.121 others(38): Show c.121-2148_121-2128delTATATATATATATATATATAT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
GINS2_chr16_85671198_85693954	85677418	GCATTGTC others(14): Show GCATTGTCACTCATGCTCAATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02572.hp2 others(3): Show HG00639.hp2 HG01891.hp2 HG02572.hp2 HG02615.hp1 HG02970.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0045 a0001c0003t0018 a0001c0001t0045 a0001c0003t0018	a0001c0001t0045g0186 a0001c0003t0018g0080 a0001c0003t0018g0081 others(3): Show a0001c0001t0045g0186 a0001c0003t0018g0080 a0001c0003t0018g0081 a0001c0003t0018g0082 a0001c0003t0018g0083 a0001c0003t0018g0084	6	470	0.0128	-21	c.77 others(30): Show c.773_*793delTATTGAGCATGAGTGACAATG		GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	5/5				773		chr16	TogoVar
GIPC1_chr19_14472762_14501127	14483748	CAATAATA others(14): Show CAATAATAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(138): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03491.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0002c0004 a0009c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0016 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0031 a0001c0003t0034 a0001c0011t0018 a0001c0013t0003 a0001c0017t0001 a0001c0018t0011 a0002c0004t0001 a0009c0010t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0022 others(119): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0003g0033 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0303 a0001c0001t0003g0319 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0011g0337 a0001c0001t0015g0038 a0001c0001t0015g0389 a0001c0001t0015g0390 a0001c0002t0001g0224 a0001c0002t0004g0289 a0001c0002t0005g0011 a0001c0002t0005g0053 a0001c0002t0005g0054 a0001c0002t0005g0058 a0001c0002t0005g0060 a0001c0002t0016g0043 a0001c0002t0016g0044 a0001c0002t0016g0045 a0001c0002t0018g0187 a0001c0003t0001g0020 a0001c0003t0001g0152 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0203 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0031g0042 a0001c0003t0034g0048 a0001c0011t0018g0201 a0001c0013t0003g0279 a0001c0017t0001g0115 a0001c0018t0011g0333 a0002c0004t0001g0176 a0009c0010t0005g0051	141	444	0.3176	-21	c.-30 others(36): Show c.-30-763_-30-743delATTATTATTATTATTATTATT		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8						chr19	TogoVar
GIPC1_chr19_14472762_14501127	14496041	TCCGCCGC others(14): Show TCCGCCGCCGCCGCCGCCGCCG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0009 a0001c0007t0023g0009	2	444	0.0045	-21	c.-20 others(30): Show c.-200_-180delCGGCGGCGGCGGCGGCGGCGG		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9				13066		chr19	TogoVar
GIPC2_chr1_78040966_78143444	78142354	ATGTGTGT others(14): Show ATGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0065 a0002c0002t0022g0065	1	332	0.0030	-21	c.66 others(32): Show c.6612_*6632delTGTGTGTGTGTGTGTGTGTGT		GIPC2	ENSG00000137960.6	transcript	ENST00000370759.4	protein_coding					3911		chr1	TogoVar
GJA3_chr13_20133255_20166052	20163240	TAGGTAGA others(14): Show TAGGTAGACAACTAAGATGTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01109.hp2 others(11): Show HG00639.hp1 HG00738.hp1 HG01109.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03942.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0030 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0030 a0001c0002t0006 a0001c0007t0031 a0002c0003t0005	a0001c0001t0004g0070 a0001c0001t0004g0085 a0001c0001t0004g0115 others(8): Show a0001c0001t0004g0070 a0001c0001t0004g0085 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0001t0007g0127 a0001c0001t0030g0128 a0001c0002t0006g0008 a0001c0002t0006g0132 a0001c0007t0031g0123 a0002c0003t0005g0116	14	392	0.0357	-21	c.-23 others(32): Show c.-2389_-2369delGAACATCTTAGTTGTCTACCT		GJA3	ENSG00000121743.4	transcript	ENST00000241125.4	protein_coding					2189		chr13	TogoVar
GJD2_chr15_34746032_34759998	34746226	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0077 a0001c0004t0028g0077	1	446	0.0022	-21	c.62 others(32): Show c.6231_*6251delATATATATTTTTTTTTTTTTT		GJD2	ENSG00000159248.5	transcript	ENST00000290374.5	protein_coding					4805		chr15	TogoVar
GLB1_chr3_32991617_33102146	33031635	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	394	0.0025	-21	c.106 others(40): Show c.1069-7331_1069-7311delATATATATATATATATTTTTT		GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15						chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7976496	AAAGGAAA others(14): Show AAAGGAAAGGAAAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0016 a0001c0001t0029g0027 a0001c0001t0029g0016 a0001c0001t0029g0027	2	416	0.0048	-21	c.457 others(38): Show c.457+6691_457+6711delAGGAAAGGAAAAAGGAAAGGA		GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
GLIPR1L2_chr12_75386089_75437688	75390947	CTTCTCTC others(14): Show CTTCTCTCCTCCCTCCTCCTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	360	0.0028	-21	c.-16 others(30): Show c.-169_-149delTTCTCTCCTCCCTCCTCCTTA		GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding					141		chr12	TogoVar
GLIPR1L2_chr12_75386089_75437688	75432807	TGAGAAAA others(14): Show TGAGAAAAAGCCTTAGGTAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	360	0.0028	-21	c.16 others(32): Show c.1647_*1667delGAGAAAAAGCCTTAGGTAGAG		GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding					120		chr12	TogoVar
GLIS1_chr1_53501239_53744164	53543009	TCAGTGTA others(14): Show TCAGTGTAAGCCCCCCAAAACC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03471.hp2 NA18522.hp2 HG02622.hp1 HG03471.hp2 NA18522.hp2	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0004c0026 a0016c0045 a0001c0001 a0004c0026 a0016c0045	a0001c0001t0002 a0004c0026t0003 a0016c0045t0004 a0001c0001t0002 a0004c0026t0003 a0016c0045t0004	a0001c0001t0002g0232 a0004c0026t0003g0006 a0016c0045t0004g0100 a0001c0001t0002g0232 a0004c0026t0003g0006 a0016c0045t0004g0100	3	236	0.0127	-21	c.132 others(42): Show c.1321-13078_1321-13058delGGTTTTGGGGGGCTTACACTG		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	4/10						chr1	TogoVar
GLIS3_chr9_3819127_4305068	3976795	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02486.hp2 HG02622.hp2 HG01361.hp1 HG02486.hp2 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0057 a0002c0002t0012 a0001c0001t0008 a0001c0001t0057 a0002c0002t0012	a0001c0001t0008g0130 a0001c0001t0057g0089 a0002c0002t0012g0080 a0001c0001t0008g0130 a0001c0001t0057g0089 a0002c0002t0012g0080	3	188	0.0160	-21	c.171 others(42): Show c.1711-39627_1711-39607delTTTTTTTTTTTTTTTTTTTTT		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4112994	ATCTACAT others(14): Show ATCTACATAAATCTAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG02886.hp2 others(4): Show HG01243.hp1 HG02615.hp2 HG02886.hp2 HG02965.hp2 HG03225.hp1 NA18906.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 others(4): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0048 a0006c0009t0004 a0006c0009t0034	a0001c0001t0004g0081 a0001c0001t0011g0043 a0001c0001t0012g0046 others(4): Show a0001c0001t0004g0081 a0001c0001t0011g0043 a0001c0001t0012g0046 a0001c0001t0018g0088 a0001c0001t0048g0025 a0006c0009t0004g0028 a0006c0009t0034g0005	7	188	0.0372	-21	c.171 others(40): Show c.1710+4753_1710+4773delATTTATTTAGATTTATGTAGA		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	4/10						chr9	TogoVar
GLIS3_chr9_3819127_4305068	4216391	TGAGCTTG others(14): Show TGAGCTTGCAGTGAGAAAGGCG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp2 HG02818.hp1 others(3): Show HG00735.hp2 HG02486.hp2 HG02818.hp1 HG02895.hp1 HG03669.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0001t0040 a0001c0001t0057 a0002c0002t0007	a0001c0001t0001g0121 a0001c0001t0005g0170 a0001c0001t0019g0015 others(3): Show a0001c0001t0001g0121 a0001c0001t0005g0170 a0001c0001t0019g0015 a0001c0001t0040g0016 a0001c0001t0057g0089 a0002c0002t0007g0030	6	188	0.0319	-21	c.388 others(40): Show c.388+69626_388+69646delCGCCTTTCTCACTGCAAGCTC		GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10						chr9	TogoVar
GLRA3_chr4_174631920_174834247	174671556	TTATATTT others(14): Show TTATATTTTCTAATAGTTATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0236 a0001c0001t0011g0236	1	296	0.0034	-21	c.927 others(38): Show c.927+5501_927+5521delTTATAACTATTAGAAAATATA		GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	7/9						chr4	TogoVar
GLS_chr2_190875821_190970552	190880872	CGCAGCAG others(14): Show CGCAGCAGCAGCAGCAGCAGCA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00558.hp2 HG01257.hp1 HG02083.hp1 others(10): Show HG00558.hp2 HG01257.hp1 HG02083.hp1 NA18950.hp2 NA18953.hp2 NA18967.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19057.hp2 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0007 a0001c0001t0041 a0001c0002t0007	a0001c0001t0041g0065 a0001c0002t0007g0269 a0001c0002t0007g0270 others(10): Show a0001c0001t0041g0065 a0001c0002t0007g0269 a0001c0002t0007g0270 a0001c0002t0007g0271 a0001c0002t0007g0272 a0001c0002t0007g0273 a0001c0002t0007g0274 a0001c0002t0007g0275 a0001c0002t0007g0276 a0001c0002t0007g0277 a0001c0002t0007g0278 a0001c0002t0007g0279 a0001c0002t0007g0280	13	380	0.0342	-21	c.-18 others(30): Show c.-185_-165delGCAGCAGCAGCAGCAGCAGCA		GLS	ENSG00000115419.14	transcript	ENST00000320717.8	protein_coding	1/18				165	INFO_REALIGN_3_PRIME	chr2	TogoVar
GLT1D1_chr12_128848478_128989968	128874122	CTCTCTTT others(14): Show CTCTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0207 a0006c0016t0002g0207	1	320	0.0031	-21	c.69- others(36): Show c.69-1790_69-1770delCTCTTTCTTTCTTTCTTTCTT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971726	TCCCCCCT others(14): Show TCCCCCCTCCATCCTCCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	320	0.0031	-21	c.880 others(40): Show c.880-11198_880-11178delCCTCCATCCTCCCTTCCCCCC		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	103995361	ACAGCGAC others(14): Show ACAGCGACCACCTTTAATGAAC	A A	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18954.hp1 NA18956.hp2 others(3): Show NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18967.hp2 NA18992.hp1 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0305 a0001c0003t0001g0314 a0001c0003t0001g0316 others(3): Show a0001c0003t0001g0305 a0001c0003t0001g0314 a0001c0003t0001g0316 a0001c0003t0001g0318 a0001c0003t0001g0320 a0001c0003t0002g0385	6	416	0.0144	-21	c.601 others(36): Show c.601-881_601-861delGTTCATTAAAGGTGGTCGCTG		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	8/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021867	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	416	0.0024	-21	c.-16 others(38): Show c.-163-397_-163-377delCTTCTTCTTCTTCTTCTTCTT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021935	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01515.hp2 HG02040.hp2 others(8): Show HG01192.hp1 HG01515.hp2 HG02040.hp2 HG02738.hp2 HG03491.hp1 HG03492.hp2 NA18747.hp2 NA18940.hp2 NA18967.hp1 NA18969.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0002g0337 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0002g0337 a0001c0001t0002g0356 a0001c0001t0002g0363 a0001c0001t0002g0380 a0001c0001t0003g0175 a0001c0001t0003g0186 a0001c0003t0001g0222 a0002c0002t0001g0261	11	416	0.0264	-21	c.-16 others(38): Show c.-163-465_-163-445delCTCTTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021944	AGAAGAAG others(14): Show AGAAGAAGAAGAGGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG02698.hp1 others(2): Show HG00639.hp2 HG02145.hp1 HG02698.hp1 NA19080.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0001g0151 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0003g0189 a0001c0001t0003g0200	5	416	0.0120	-21	c.-16 others(38): Show c.-163-474_-163-454delCTCTTCTTCCTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104022002	GAAGAAGA others(14): Show GAAGAAGAAGAAGAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01070.hp1 others(8): Show HG00597.hp2 HG00733.hp1 HG01070.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG03239.hp2 HG03516.hp2 NA18969.hp2 NA19005.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0095 a0001c0001t0001g0280 a0001c0001t0002g0338 others(8): Show a0001c0001t0001g0095 a0001c0001t0001g0280 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0346 a0001c0001t0002g0347 a0002c0002t0001g0245 a0002c0002t0001g0252 a0002c0002t0001g0258 a0002c0002t0001g0265 a0002c0002t0001g0272	11	416	0.0264	-21	c.-16 others(38): Show c.-163-532_-163-512delTTTCTTCTTCTTCTTCTTCTT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104022037	AGAAGAAG others(14): Show AGAAGAAGAAGAAGAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	416	0.0024	-21	c.-16 others(38): Show c.-163-567_-163-547delCCCTTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GMDS_chr6_1618806_2250605	2067882	AGAAAAAG others(14): Show AGAAAAAGAGGGAATCCTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	166	0.0060	-21	c.345 others(40): Show c.345+47868_345+47888delAGGGAGGATTCCCTCTTTTTC		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10						chr6	TogoVar
GMPR_chr6_16233587_16300549	16263558	AAAGGGGT others(14): Show AAAGGGGTTGGGGCGTGGAAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0270 a0001c0001t0010g0270	1	344	0.0029	-21	c.465 others(38): Show c.465+8835_465+8855delGCGTGGAAATAAGGGGTTGGG		GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar

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