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 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
GDPGP1_chr15_90229209_90250811	90246787	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG01175.hp2 others(8): Show HG01081.hp1 HG01167.hp1 HG01175.hp2 HG01517.hp1 HG02004.hp2 HG02273.hp1 HG02735.hp1 HG03491.hp1 HG03540.hp1 HG03710.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0032 a0001c0001t0001 a0003c0003t0032	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0080 a0003c0003t0032g0046	11	438	0.0251	-22	c.47 others(33): Show c.4722_*4743delAAAAAAAAAAAAAAAAAAAAAA	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding		977		chr15	TogoVar
GDPGP1_chr15_90229209_90250811	90248718	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0109 a0002c0002t0109	a0002c0002t0109g0001 a0002c0002t0109g0001	1	438	0.0023	-22	c.66 others(33): Show c.6653_*6674delAAAAAAAAAAAAAAAAAAAAAA	GDPGP1	ENSG00000183208.13	transcript	ENST00000329600.8	protein_coding		2908		chr15	TogoVar
GEMIN2_chr14_39109323_39141973	39132986	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	424	0.0024	-22	c.712 others(37): Show c.712-659_712-638delATATATATGTGTGTGTGTGTGT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN6_chr2_38773210_38790002	38773813	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02647.hp1 NA18950.hp1 others(2): Show HG01934.hp1 HG02647.hp1 NA18950.hp1 NA18970.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0015 a0001c0001t0002g0040 a0001c0001t0004g0006 others(1): Show a0001c0001t0002g0015 a0001c0001t0002g0040 a0001c0001t0004g0006 a0001c0001t0004g0045	5	412	0.0121	-22	c.-44 others(33): Show c.-4487_-4466delTCTTTCTTTCTTTCTTTCTTTC	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding		4396		chr2	TogoVar
GEN1_chr2_17749138_17793946	17778326	GTACATAT others(15): Show GTACATATATGTATACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp2 NA18942.hp1 others(1): Show HG01993.hp1 HG01993.hp2 NA18942.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0122 a0001c0001t0001g0016 a0001c0001t0001g0122	4	318	0.0126	-22	c.126 others(39): Show c.1264+265_1264+286delACATATATGTATACACACACAT	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GFOD1_chr6_13352830_13492600	13381915	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02486.hp2 others(11): Show HG01884.hp2 HG01891.hp2 HG02486.hp2 HG02559.hp1 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0001t0022 a0001c0001t0044 others(8): Show a0001c0001t0011 a0001c0001t0022 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0086 a0001c0001t0116 a0001c0001t0117 a0001c0001t0134 a0001c0001t0141 a0001c0004t0085	a0001c0001t0011g0004 a0001c0001t0011g0006 a0001c0001t0011g0034 others(11): Show a0001c0001t0011g0004 a0001c0001t0011g0006 a0001c0001t0011g0034 a0001c0001t0022g0069 a0001c0001t0022g0127 a0001c0001t0044g0016 a0001c0001t0045g0022 a0001c0001t0046g0030 a0001c0001t0086g0044 a0001c0001t0116g0177 a0001c0001t0117g0173 a0001c0001t0134g0227 a0001c0001t0141g0228 a0001c0004t0085g0165	14	230	0.0609	-22	c.254 others(41): Show c.254-16275_254-16254delTGTGTGTGTGTGTGTGTGTGTG	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13391407	AGAATCGC others(15): Show AGAATCGCTTGAACCTGGGAGGT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03209.hp1 HG02896.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0032 a0001c0002t0008 a0001c0002t0032	a0001c0002t0008g0060 a0001c0002t0032g0029 a0001c0002t0008g0060 a0001c0002t0032g0029	2	230	0.0087	-22	c.254 others(41): Show c.254-25767_254-25746delACCTCCCAGGTTCAAGCGATTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFRA1_chr10_116051925_116278206	116093573	GCAGGCAC others(15): Show GCAGGCACAAGGTACAAGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0131 a0001c0001t0128g0131	1	214	0.0047	-22	c.101 others(39): Show c.1015+107_1015+128delTACCTCTTGTACCTTGTGCCTG	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	8/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21689246	GCACACAC others(15): Show GCACACACACACACACACACGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01099.hp1 others(67): Show HG00642.hp2 HG00738.hp2 HG01099.hp1 HG01255.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18957.hp2 NA18980.hp1 NA19007.hp1 NA19043.hp1 NA19070.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0019 a0001c0020 a0001c0022 a0002c0002 a0002c0005 a0002c0007 a0002c0016 a0002c0021 a0004c0009 a0004c0011 a0004c0015 a0005c0012 a0005c0013 a0005c0014 a0007c0024	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(33): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0003t0005 a0001c0004t0005 a0001c0004t0013 a0001c0006t0007 a0001c0006t0023 a0001c0019t0020 a0001c0020t0005 a0001c0022t0007 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0015 a0002c0002t0027 a0002c0002t0044 a0002c0005t0002 a0002c0007t0002 a0002c0016t0006 a0002c0021t0010 a0004c0009t0005 a0004c0009t0013 a0004c0009t0039 a0004c0011t0005 a0004c0015t0008 a0005c0012t0010 a0005c0013t0003 a0005c0013t0010 a0005c0014t0003 a0005c0014t0006 a0007c0024t0019	a0001c0001t0005g0223 a0001c0001t0005g0231 a0001c0001t0005g0241 others(67): Show a0001c0001t0005g0223 a0001c0001t0005g0231 a0001c0001t0005g0241 a0001c0001t0005g0251 a0001c0001t0005g0264 a0001c0001t0005g0284 a0001c0001t0005g0306 a0001c0001t0006g0013 a0001c0001t0006g0018 a0001c0001t0006g0074 a0001c0001t0006g0100 a0001c0001t0006g0142 a0001c0001t0006g0146 a0001c0001t0006g0158 a0001c0001t0007g0067 a0001c0001t0007g0112 a0001c0001t0013g0182 a0001c0001t0013g0240 a0001c0001t0019g0025 a0001c0001t0019g0070 a0001c0001t0020g0307 a0001c0001t0020g0309 a0001c0001t0025g0001 a0001c0003t0005g0253 a0001c0004t0005g0276 a0001c0004t0013g0230 a0001c0004t0013g0232 a0001c0006t0007g0033 a0001c0006t0023g0208 a0001c0006t0023g0234 a0001c0019t0020g0310 a0001c0020t0005g0186 a0001c0022t0007g0020 a0002c0002t0002g0019 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0066 a0002c0002t0002g0076 a0002c0002t0002g0128 a0002c0002t0002g0180 a0002c0002t0003g0236 a0002c0002t0010g0185 a0002c0002t0010g0191 a0002c0002t0015g0004 a0002c0002t0015g0006 a0002c0002t0015g0007 a0002c0002t0015g0029 a0002c0002t0027g0015 a0002c0002t0044g0308 a0002c0005t0002g0045 a0002c0007t0002g0165 a0002c0016t0006g0017 a0002c0021t0010g0225 a0004c0009t0005g0200 a0004c0009t0013g0190 a0004c0009t0039g0188 a0004c0011t0005g0197 a0004c0015t0008g0189 a0004c0015t0008g0196 a0005c0012t0010g0194 a0005c0012t0010g0198 a0005c0013t0003g0201 a0005c0013t0010g0229 a0005c0014t0003g0199 a0005c0014t0006g0083 a0007c0024t0019g0062	70	322	0.2174	-22	c.40 others(33): Show c.4010_*4031delTGCGTGTGTGTGTGTGTGTGTG	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding		1151		chr8	TogoVar
GFRA2_chr8_21685398_21793875	21715626	GACCTGGG others(15): Show GACCTGGGCTGGGAAGCCACGGC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0186 a0001c0020t0005g0186	1	322	0.0031	-22	c.795 others(39): Show c.795-9607_795-9586delGCCGTGGCTTCCCAGCCCAGGT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21763950	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02109.hp1 HG02258.hp2 others(9): Show HG02083.hp1 HG02109.hp1 HG02258.hp2 HG02615.hp1 HG02647.hp2 HG02818.hp2 HG03098.hp1 HG03225.hp1 HG03486.hp1 NA18747.hp2 NA19091.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0001c0006 a0002c0002 others(2): Show a0001c0004 a0001c0006 a0002c0002 a0002c0021 a0005c0012	a0001c0004t0007 a0001c0004t0009 a0001c0006t0009 others(7): Show a0001c0004t0007 a0001c0004t0009 a0001c0006t0009 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0015 a0002c0002t0046 a0002c0021t0010 a0005c0012t0010	a0001c0004t0007g0179 a0001c0004t0009g0228 a0001c0006t0009g0304 others(9): Show a0001c0004t0007g0179 a0001c0004t0009g0228 a0001c0006t0009g0304 a0002c0002t0002g0169 a0002c0002t0003g0193 a0002c0002t0010g0191 a0002c0002t0015g0004 a0002c0002t0015g0006 a0002c0002t0015g0007 a0002c0002t0046g0312 a0002c0021t0010g0225 a0005c0012t0010g0198	12	322	0.0373	-22	c.439 others(41): Show c.439+11000_439+11021delGTGTGTGTGTGTGTGTGTGTGT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	3/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21775989	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp1 HG02647.hp2 others(9): Show HG01243.hp2 HG02280.hp1 HG02647.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03471.hp2 HG06807.hp1 NA18906.hp2 NA20129.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0006 a0004c0009 a0004c0011 others(3): Show a0001c0006 a0004c0009 a0004c0011 a0004c0015 a0005c0012 a0005c0014	a0001c0006t0002 a0004c0009t0005 a0004c0009t0013 others(7): Show a0001c0006t0002 a0004c0009t0005 a0004c0009t0013 a0004c0009t0039 a0004c0011t0005 a0004c0011t0009 a0004c0015t0008 a0005c0012t0010 a0005c0014t0003 a0005c0014t0006	a0001c0006t0002g0028 a0004c0009t0005g0200 a0004c0009t0013g0190 others(9): Show a0001c0006t0002g0028 a0004c0009t0005g0200 a0004c0009t0013g0190 a0004c0009t0039g0188 a0004c0011t0005g0197 a0004c0011t0009g0195 a0004c0015t0008g0189 a0004c0015t0008g0196 a0005c0012t0010g0194 a0005c0012t0010g0198 a0005c0014t0003g0199 a0005c0014t0006g0083	12	322	0.0373	-22	c.356 others(37): Show c.356-956_356-935delCACACACACACACACACACACA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	2/8			chr8	TogoVar
GFRA3_chr5_138247380_138279621	138250164	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	376	0.0027	-22	c.27 others(33): Show c.2782_*2803delTTTTTTTTTTTTTTTTTTTTTT	GFRA3	ENSG00000146013.11	transcript	ENST00000274721.8	protein_coding		2215		chr5	TogoVar
GFRA4_chr20_3654248_3668399	3667878	ACCACCAC others(15): Show ACCACCACCCCGCCAACCACCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG02886.hp2 others(3): Show HG02622.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp2 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0072 a0001c0003t0002g0002 a0001c0003t0002g0072	6	450	0.0133	-22	c.-45 others(33): Show c.-4501_-4480delGTGGTGGTTGGCGGGGTGGTGG	GFRA4	ENSG00000125861.16	transcript	ENST00000290417.7	protein_coding		4480		chr20	TogoVar
GGA2_chr16_23458542_23515494	23467387	AACACACA others(15): Show AACACACACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0101 a0001c0001t0068g0101	1	254	0.0039	-22	c.18 others(31): Show c.181_*202delGTGTGTGTGTGTGTGTGTGTGT	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17	181		chr16	TogoVar
GGA2_chr16_23458542_23515494	23510906	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03098.hp2 others(4): Show HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG06807.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0013 a0001c0001t0037 a0001c0001t0040 others(2): Show a0001c0001t0013 a0001c0001t0037 a0001c0001t0040 a0001c0001t0049 a0006c0009t0048	a0001c0001t0013g0004 a0001c0001t0013g0065 a0001c0001t0037g0054 others(3): Show a0001c0001t0013g0004 a0001c0001t0013g0065 a0001c0001t0037g0054 a0001c0001t0040g0055 a0001c0001t0049g0056 a0006c0009t0048g0066	7	254	0.0276	-22	c.-51 others(31): Show c.-517_-496delACACACACACACACACACACAC	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding		413		chr16	TogoVar
GGACT_chr13_100525180_100593789	100550299	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02735.hp2 HG03239.hp1 others(9): Show HG00738.hp1 HG02735.hp2 HG03239.hp1 HG03490.hp1 NA18970.hp2 NA18972.hp1 NA18978.hp1 NA18994.hp2 NA19074.hp1 NA19082.hp1 NA19084.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0025 a0001c0001t0001 a0001c0001t0015 a0001c0001t0025	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0070 others(9): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0015g0019 a0001c0001t0025g0139	12	376	0.0319	-22	c.-10 others(41): Show c.-10-17720_-10-17699delGTGTGTGTGTGTGTGTGTGTGT	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GGNBP2_chr17_36539919_36594848	36575613	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp1 HG02280.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0279 a0001c0001t0002g0003 a0001c0001t0002g0279	2	357	0.0056	-22	c.642 others(39): Show c.642-2355_642-2334delATATATATATATATATATATAT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36590487	CATAAAAT others(15): Show CATAAAATCATGGGACAATCAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0002 a0003c0005t0003g0002	1	357	0.0028	-22	c.10 others(33): Show c.1077_*1098delATAAAATCATGGGACAATCAGT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding		640		chr17	TogoVar
GGT1_chr22_24598193_24633996	24611773	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG01169.hp2 others(17): Show HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02280.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0009 a0001c0013 others(2): Show a0001c0007 a0001c0009 a0001c0013 a0002c0003 a0002c0004	a0001c0007t0005 a0001c0007t0019 a0001c0007t0025 others(7): Show a0001c0007t0005 a0001c0007t0019 a0001c0007t0025 a0001c0009t0001 a0001c0013t0001 a0002c0003t0003 a0002c0003t0008 a0002c0004t0008 a0002c0004t0010 a0002c0004t0024	a0001c0007t0005g0044 a0001c0007t0019g0259 a0001c0007t0025g0275 others(16): Show a0001c0007t0005g0044 a0001c0007t0019g0259 a0001c0007t0025g0275 a0001c0009t0001g0005 a0001c0013t0001g0280 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0015 a0002c0003t0008g0265 a0002c0003t0008g0266 a0002c0003t0008g0267 a0002c0004t0008g0269 a0002c0004t0010g0257 a0002c0004t0010g0258 a0002c0004t0010g0260 a0002c0004t0010g0261 a0002c0004t0010g0263 a0002c0004t0024g0262	20	426	0.0470	-22	c.164 others(37): Show c.164+554_164+575delGTGTGTGTGTGTGTGTGTGTGT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT5_chr22_24214660_24250082	24228050	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18962.hp2 NA18990.hp2 NA18959.hp2 NA18962.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0090	3	420	0.0071	-22	c.902 others(39): Show c.902-1305_902-1284delGTTTTGTTTTTTTTTTTTTTTT	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	6/11			chr22	TogoVar
GHDC_chr17_42184087_42199494	42187582	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	374	0.0054	-22	c.20 others(33): Show c.2099_*2120delAAAAAAAAAAAAAAAAAAAAAA	GHDC	ENSG00000167925.17	transcript	ENST00000587427.6	protein_coding		1504		chr17	TogoVar
GHR_chr5_42418439_42726878	42579132	TAGATAGA others(15): Show TAGATAGATGATAGATAGATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0042 a0003c0005t0002g0042	1	210	0.0048	-22	c.70+ others(39): Show c.70+13189_70+13210delAGATAGATGATAGATAGATATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9			chr5	TogoVar
GHSR_chr3_172438291_172453456	172452628	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	446	0.0045	-22	c.-42 others(33): Show c.-4237_-4216delCACACACACACACACACACACA	GHSR	ENSG00000121853.4	transcript	ENST00000241256.3	protein_coding		4173		chr3	TogoVar
GIGYF2_chr2_232692331_232865605	232836263	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01358.hp1 HG02027.hp2 others(8): Show HG00408.hp1 HG01358.hp1 HG02027.hp2 HG02074.hp1 HG02280.hp1 HG02717.hp2 HG03098.hp1 HG04228.hp1 NA18945.hp1 NA19010.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0017 a0001c0003t0003 a0002c0001t0002 others(1): Show a0001c0002t0017 a0001c0003t0003 a0002c0001t0002 a0002c0001t0033	a0001c0002t0017g0177 a0001c0003t0003g0017 a0001c0003t0003g0144 others(8): Show a0001c0002t0017g0177 a0001c0003t0003g0017 a0001c0003t0003g0144 a0001c0003t0003g0148 a0001c0003t0003g0164 a0002c0001t0002g0026 a0002c0001t0002g0064 a0002c0001t0002g0106 a0002c0001t0002g0120 a0002c0001t0002g0128 a0002c0001t0033g0031	11	376	0.0293	-22	c.276 others(41): Show c.2766+3216_2766+3237delTATATATATATATATATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836328	ATACATAT others(15): Show ATACATATATATACTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	376	0.0027	-22	c.276 others(41): Show c.2766+3238_2766+3259delCATATATATACTTATATATTTA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836355	TATATAAA others(15): Show TATATAAATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0007 a0006c0012t0007	a0006c0012t0007g0373 a0006c0012t0007g0374 a0006c0012t0007g0373 a0006c0012t0007g0374	2	376	0.0053	-22	c.276 others(41): Show c.2766+3274_2766+3295delAATATATATAAATATAAATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232843133	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02896.hp2 others(4): Show HG02145.hp1 HG02280.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03540.hp2 HG03942.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0002c0006 a0006c0012 a0002c0001 a0002c0006 a0006c0012	a0002c0001t0002 a0002c0006t0007 a0006c0012t0007 a0002c0001t0002 a0002c0006t0007 a0006c0012t0007	a0002c0001t0002g0044 a0002c0006t0007g0001 a0002c0006t0007g0371 others(3): Show a0002c0001t0002g0044 a0002c0006t0007g0001 a0002c0006t0007g0371 a0002c0006t0007g0372 a0006c0012t0007g0373 a0006c0012t0007g0374	7	376	0.0186	-22	c.289 others(39): Show c.2890-885_2890-864delGTGTGTGTGTGTGTGTGTGTGT	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	23/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIMAP2_chr7_150680706_150698641	150687105	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01069.hp2 others(17): Show HG00099.hp2 HG00323.hp1 HG01069.hp2 HG01255.hp1 HG02056.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02735.hp2 HG02738.hp2 HG03710.hp1 HG03834.hp2 NA18949.hp2 NA18970.hp2 NA18981.hp2 NA18989.hp1 NA18993.hp2 NA19003.hp1 NA19078.hp1 NA20752.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0002c0004 a0008c0013 a0002c0003 a0002c0004 a0008c0013	a0002c0003t0001 a0002c0004t0001 a0008c0013t0003 a0002c0003t0001 a0002c0004t0001 a0008c0013t0003	a0002c0003t0001g0008 a0002c0004t0001g0012 a0002c0004t0001g0153 others(2): Show a0002c0003t0001g0008 a0002c0004t0001g0012 a0002c0004t0001g0153 a0002c0004t0001g0161 a0008c0013t0003g0008	20	456	0.0439	-22	c.28+ others(33): Show c.28+47_28+68delGTGTGTGTGTGTGTGTGTGTGT	GIMAP2	ENSG00000106560.11	transcript	ENST00000223293.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
GIMAP5_chr7_150732418_150748646	150739303	CATTTCCT others(15): Show CATTTCCTGATGCTAGCTCCATT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01175.hp2 HG01070.hp2 HG01071.hp1 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	3	422	0.0071	-22	c.-6- others(37): Show c.-6-1575_-6-1554delATTTCCTGATGCTAGCTCCATT	GIMAP5	ENSG00000196329.12	transcript	ENST00000358647.5	protein_coding	1/2			chr7	TogoVar
GINM1_chr6_149561375_149596748	149562262	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02129.hp2 HG02293.hp1 others(3): Show HG00609.hp1 HG02129.hp2 HG02293.hp1 NA18954.hp2 NA19000.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018	a0001c0001t0002g0031 a0001c0001t0002g0181 a0001c0001t0004g0122 others(3): Show a0001c0001t0002g0031 a0001c0001t0002g0181 a0001c0001t0004g0122 a0001c0001t0004g0233 a0001c0001t0004g0236 a0001c0001t0018g0242	6	380	0.0158	-22	c.-41 others(33): Show c.-4152_-4131delTATATATATATATATATATATA	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding		4112		chr6	TogoVar
GINM1_chr6_149561375_149596748	149562298	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	380	0.0026	-22	c.-41 others(33): Show c.-4116_-4095delTATATATATATATATATATTTT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding		4076		chr6	TogoVar
GINM1_chr6_149561375_149596748	149562304	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	380	0.0026	-22	c.-41 others(33): Show c.-4110_-4089delTATATATATATATTTTTTTTTT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding		4070		chr6	TogoVar
GINM1_chr6_149561375_149596748	149570134	TTTTATAT others(15): Show TTTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	380	0.0026	-22	c.121 others(39): Show c.121-2149_121-2128delTTATATATATATATATATATAT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GINM1_chr6_149561375_149596748	149570136	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01261.hp2 others(8): Show HG01175.hp1 HG01175.hp2 HG01261.hp2 HG02109.hp2 HG03130.hp2 HG03139.hp1 NA18906.hp2 NA18944.hp2 NA18950.hp1 NA18961.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0005	a0001c0001t0001g0032 a0001c0001t0001g0267 a0001c0001t0002g0143 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0267 a0001c0001t0002g0143 a0001c0001t0002g0238 a0001c0001t0003g0021 a0002c0003t0005g0003	11	380	0.0290	-22	c.121 others(39): Show c.121-2108_121-2087delTATATATATATATATATATATA	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GIPC1_chr19_14472762_14501127	14485700	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0088 a0002c0004t0002g0088	1	444	0.0023	-22	c.-30 others(39): Show c.-30-2716_-30-2695delCTCTCTCTCTCTCTCTCTCTAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIT2_chr12_109924804_110001368	109964620	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01168.hp1 others(7): Show HG00738.hp2 HG01069.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG02818.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0001 a0001c0001t0003g0047 a0001c0001t0003g0048 others(6): Show a0001c0001t0003g0001 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0060 a0001c0001t0012g0213 a0001c0001t0012g0214	10	242	0.0413	-22	c.816 others(37): Show c.816+884_816+905delGTGTGTGTGTGTGTGTGTGTGT	GIT2	ENSG00000139436.22	transcript	ENST00000355312.8	protein_coding	9/19			chr12	TogoVar
GJA4_chr1_34787999_34800747	34796771	GTTGAAAA others(15): Show GTTGAAAACACCAGCTCTGTACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	416	0.0024	-22	c.15 others(33): Show c.1557_*1578delTTGAAAACACCAGCTCTGTACC	GJA4	ENSG00000187513.9	transcript	ENST00000342280.5	protein_coding		1025		chr1	TogoVar
GJA9_chr1_38869069_38886587	38882299	AATATATA others(15): Show AATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	444	0.0023	-22	c.-98 others(31): Show c.-985_-964delATATATATATATATATATATAT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		713		chr1	TogoVar
GJA9_chr1_38869069_38886587	38882333	TATATATA others(15): Show TATATATATATATATATATTTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG02258.hp1 others(8): Show HG00741.hp1 HG01884.hp2 HG02258.hp1 HG02717.hp1 HG02922.hp2 HG03710.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18998.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0001c0001t0002 a0001c0001t0004 a0001c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0004g0026 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0004g0026 a0001c0001t0004g0100 a0001c0004t0002g0003	11	444	0.0248	-22	c.-10 others(32): Show c.-1019_-998delGTAAATATATATATATATATAT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		747		chr1	TogoVar
GJD2_chr15_34746032_34759998	34746229	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG03710.hp2 others(2): Show HG00099.hp1 HG01123.hp2 HG03710.hp2 NA18953.hp1 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0009 a0001c0004t0009 a0001c0004t0041 a0001c0003t0009 a0001c0004t0009 a0001c0004t0041	a0001c0003t0009g0055 a0001c0004t0009g0009 a0001c0004t0041g0064 a0001c0003t0009g0055 a0001c0004t0009g0009 a0001c0004t0041g0064	5	446	0.0112	-22	c.62 others(33): Show c.6227_*6248delATATATATATATTTTTTTTTTT	GJD2	ENSG00000159248.5	transcript	ENST00000290374.5	protein_coding		4802		chr15	TogoVar
GJD2_chr15_34746032_34759998	34746263	TATATATA others(15): Show TATATATATATATATAGAGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03453.hp1 HG03579.hp2 HG02970.hp1 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0008 a0001c0001t0021	a0001c0001t0008g0008 a0001c0001t0021g0027 a0001c0001t0008g0008 a0001c0001t0021g0027	3	446	0.0067	-22	c.61 others(33): Show c.6193_*6214delCTCTCTCTATATATATATATAT	GJD2	ENSG00000159248.5	transcript	ENST00000290374.5	protein_coding		4768		chr15	TogoVar
GKAP1_chr9_83734425_83822769	83812228	CATGTATA others(15): Show CATGTATACATATATACGTATAT	C C	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	336	0.0030	-22	c.-44 others(39): Show c.-44+4746_-44+4767delATATACGTATATATGTATACAT	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	2/12			chr9	TogoVar
GKN2_chr2_68940232_68957893	68953837	CATGGTGA others(15): Show CATGGTGAAACCCCGTCTCTACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02109.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	2	466	0.0043	-22	c.-99 others(31): Show c.-998_-977delAGTAGAGACGGGGTTTCACCAT	GKN2	ENSG00000183607.10	transcript	ENST00000328895.9	protein_coding		945		chr2	TogoVar
GK_chrX_30648423_30736462	30662833	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01358.hp1 HG02055.hp1 others(10): Show HG01167.hp1 HG01358.hp1 HG02055.hp1 HG02135.hp1 HG02523.hp1 HG02622.hp1 HG02886.hp1 NA18960.hp1 NA18982.hp1 NA18999.hp1 NA19043.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0003g0160 a0001c0001t0003g0166 a0001c0001t0004g0016 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0182 a0001c0001t0018g0159	13	286	0.0455	-22	c.79- others(37): Show c.79-2676_79-2655delTTCTTTCTTTCTTTCTTTCTTT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30662847	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp1 others(74): Show HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02148.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18954.hp2 NA18956.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0278 a0001c0001t0002g0026 a0001c0001t0002g0041 a0001c0001t0002g0097 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0005g0203 a0001c0001t0015g0106 a0001c0001t0022g0040	77	286	0.2692	-22	c.79- others(37): Show c.79-2640_79-2619delCTTTCTTTCTTTCTTTCTTTCT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLB1L3_chr11_134271379_134324564	134308467	CCACCAAA others(15): Show CCACCAAATACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01934.hp1 NA18906.hp2 HG00741.hp1 HG01934.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0017t0001 a0001c0001t0001 a0001c0001t0003 a0001c0017t0001	a0001c0001t0001g0142 a0001c0001t0003g0141 a0001c0017t0001g0034 a0001c0001t0001g0142 a0001c0001t0003g0141 a0001c0017t0001g0034	3	422	0.0071	-22	c.962 others(39): Show c.962-1153_962-1132delAATACCACCACCACCATCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLG1_chr16_74442440_74612114	74540094	TATATATA others(15): Show TATATATATTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0082 a0001c0003t0009g0082	1	342	0.0029	-22	c.439 others(39): Show c.439-7963_439-7942delTATATATATATAAAATATATAT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLI3_chr7_41955949_42242209	42182644	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0133 a0001c0001t0006g0133	1	158	0.0063	-22	c.125 others(41): Show c.125-34198_125-34177delTATATATATATATATATATATA	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GLI3_chr7_41955949_42242209	42189971	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01346.hp2 HG02257.hp2 others(15): Show HG00099.hp2 HG01346.hp2 HG02257.hp2 HG02486.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0009 others(3): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0024 a0001c0005t0007 a0001c0009t0023 a0002c0002t0002 a0003c0003t0009 a0004c0004t0001 a0004c0004t0014	a0001c0001t0001g0020 a0001c0001t0001g0071 a0001c0001t0001g0122 others(15): Show a0001c0001t0001g0020 a0001c0001t0001g0071 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0006g0086 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0008g0129 a0001c0001t0008g0134 a0001c0001t0012g0153 a0001c0001t0024g0004 a0001c0005t0007g0037 a0001c0009t0023g0005 a0002c0002t0002g0092 a0003c0003t0009g0027 a0004c0004t0001g0028 a0004c0004t0014g0085	18	158	0.1139	-22	c.124 others(41): Show c.124+33137_124+33158delGTGTGTGTGTGTGTGTGTGTGT	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar

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