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
GRP_chr18_59215158_59235771	59234271	ACCATGGT others(2): Show ACCATGGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(165): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0004t0002 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0004t0002 a0001c0006t0001 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0004t0002g0062 a0001c0004t0002g0064 a0001c0006t0001g0001 a0002c0002t0001g0083 a0002c0003t0002g0033 a0002c0003t0003g0065	168	408	0.4118	-9	c.38 others(20): Show c.3804_*3812delCCATGGTAT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3501		chr18	TogoVar
GRP_chr18_59215158_59235771	59234306	ACCATGGT others(2): Show ACCATGGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01070.hp1 others(8): Show HG00639.hp1 HG00738.hp1 HG01070.hp1 HG02300.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG03017.hp2 HG03225.hp1 HG03688.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0097 a0001c0001t0001g0171 a0002c0003t0002g0033	11	408	0.0270	-9	c.38 others(20): Show c.3839_*3847delCCATGGTAT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3536		chr18	TogoVar
GRP_chr18_59215158_59235771	59234337	ACATACCA others(2): Show ACATACCATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG02965.hp2 HG00738.hp2 HG01243.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0012 a0001c0004t0002g0062 a0001c0004t0002g0064 a0001c0001t0001g0012 a0001c0004t0002g0062 a0001c0004t0002g0064	3	408	0.0074	-9	c.38 others(20): Show c.3870_*3878delCATACCATG	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3567		chr18	TogoVar
GRP_chr18_59215158_59235771	59234340	TACCATGG others(2): Show TACCATGGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02622.hp2 others(5): Show HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0176 a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0176	8	408	0.0196	-9	c.38 others(20): Show c.3873_*3881delACCATGGTA	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3570		chr18	TogoVar
GRP_chr18_59215158_59235771	59234411	ACCATGGT others(2): Show ACCATGGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG03225.hp2 HG02257.hp2 HG02572.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127	3	408	0.0074	-9	c.39 others(20): Show c.3944_*3952delCCATGGTAT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3641		chr18	TogoVar
GRXCR1_chr4_42887713_43035658	42897950	ATTATTAT others(2): Show ATTATTATTC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01167.hp1 others(22): Show HG00423.hp2 HG00438.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG02300.hp1 HG03516.hp1 HG03654.hp2 HG03942.hp1 HG04228.hp1 NA18949.hp2 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18995.hp1 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19072.hp1 NA19074.hp2 NA19087.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0004c0007t0002	a0001c0001t0001g0032 a0001c0001t0001g0110 a0001c0001t0001g0111 others(22): Show a0001c0001t0001g0032 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0003g0209 a0002c0002t0001g0277 a0003c0003t0001g0290 a0003c0003t0001g0292 a0003c0003t0001g0293 a0003c0003t0001g0294 a0003c0003t0002g0291 a0004c0007t0002g0114	25	338	0.0740	-9	c.384 others(26): Show c.384+4308_384+4316delTCTTATTAT	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRXCR1_chr4_42887713_43035658	42990173	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02572.hp1 HG02735.hp1 others(4): Show HG02074.hp1 HG02572.hp1 HG02735.hp1 HG06807.hp1 NA19054.hp1 NA19087.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0003g0132 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0004g0133 a0001c0001t0006g0003 a0001c0001t0006g0016	7	338	0.0207	-9	c.627 others(28): Show c.627+27067_627+27075delTTTTTTTTT	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSDMC_chr8_129743196_129791624	129767539	ATGTGGGC others(2): Show ATGTGGGCTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00738.hp1 others(42): Show HG00280.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01952.hp2 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03516.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG06807.hp1 NA18956.hp2 NA18961.hp2 NA18969.hp1 NA18973.hp1 NA18981.hp2 NA19043.hp2 NA19054.hp1 NA19086.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0001 a0001c0004 a0001c0008 others(7): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0002c0002 a0002c0005 a0003c0006 a0003c0017 a0005c0010 a0010c0019	a0001c0001t0001 a0001c0004t0001 a0001c0008t0007 others(9): Show a0001c0001t0001 a0001c0004t0001 a0001c0008t0007 a0001c0009t0001 a0002c0002t0008 a0002c0005t0001 a0003c0006t0001 a0003c0006t0004 a0003c0006t0005 a0003c0017t0004 a0005c0010t0006 a0010c0019t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0004t0001g0008 others(32): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0004t0001g0008 a0001c0004t0001g0201 a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0227 a0001c0008t0007g0130 a0001c0008t0007g0131 a0001c0009t0001g0202 a0001c0009t0001g0203 a0001c0009t0001g0204 a0001c0009t0001g0212 a0002c0002t0008g0263 a0002c0002t0008g0264 a0002c0005t0001g0024 a0002c0005t0001g0051 a0002c0005t0001g0195 a0002c0005t0001g0211 a0002c0005t0001g0213 a0003c0006t0001g0129 a0003c0006t0004g0059 a0003c0006t0004g0254 a0003c0006t0004g0256 a0003c0006t0004g0257 a0003c0006t0005g0261 a0003c0017t0004g0255 a0005c0010t0006g0060 a0005c0010t0006g0262 a0010c0019t0001g0149	45	416	0.1082	-9	c.405 others(26): Show c.405-1755_405-1747delGAGCCCACA	GSDMC	ENSG00000147697.10	transcript	ENST00000276708.9	protein_coding	3/13			chr8	TogoVar
GSE1_chr16_85608322_85681200	85627044	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp2 others(11): Show HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02818.hp2 HG03225.hp1 HG03486.hp2 NA18906.hp1 NA19240.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0021 a0025	a0001c0001 a0001c0002 a0002c0004 others(7): Show a0001c0001 a0001c0002 a0002c0004 a0002c0006 a0002c0017 a0002c0018 a0005c0047 a0006c0011 a0021c0039 a0025c0033	a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0018 a0002c0004t0004 a0002c0006t0001 a0002c0017t0001 a0002c0018t0004 a0005c0047t0065 a0006c0011t0019 a0021c0039t0001 a0025c0033t0038	a0001c0001t0012g0210 a0001c0002t0001g0017 a0001c0002t0002g0165 others(11): Show a0001c0001t0012g0210 a0001c0002t0001g0017 a0001c0002t0002g0165 a0001c0002t0005g0043 a0001c0002t0005g0143 a0001c0002t0018g0283 a0002c0004t0004g0001 a0002c0006t0001g0255 a0002c0017t0001g0237 a0002c0018t0004g0006 a0005c0047t0065g0088 a0006c0011t0019g0282 a0021c0039t0001g0271 a0025c0033t0038g0209	14	290	0.0483	-9	c.8-6 others(22): Show c.8-6846_8-6838delTTTTTTTTT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653211	CCCTCCCC others(2): Show CCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG02970.hp2 others(3): Show HG01109.hp2 HG01167.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0055 a0002c0006 a0001c0055 a0002c0006	a0001c0055t0048 a0002c0006t0001 a0001c0055t0048 a0002c0006t0001	a0001c0055t0048g0241 a0002c0006t0001g0216 a0002c0006t0001g0222 others(3): Show a0001c0055t0048g0241 a0002c0006t0001g0216 a0002c0006t0001g0222 a0002c0006t0001g0242 a0002c0006t0001g0253 a0002c0006t0001g0255	6	290	0.0207	-9	c.427 others(26): Show c.427-1061_427-1053delCCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSG1L_chr16_27782528_28068714	27883133	AAAAAAAG others(2): Show AAAAAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(113): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19064.hp1 NA19064.hp2 NA19074.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0017 a0001c0002t0034 a0001c0002t0035 a0001c0002t0043 a0001c0002t0046 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0049 others(113): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0181 a0001c0001t0001g0199 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0179 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0220 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0090 a0001c0001t0003g0120 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0140 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0222 a0001c0001t0004g0043 a0001c0001t0004g0101 a0001c0001t0004g0138 a0001c0001t0004g0143 a0001c0001t0004g0227 a0001c0001t0005g0039 a0001c0001t0005g0182 a0001c0001t0006g0106 a0001c0001t0007g0045 a0001c0001t0007g0109 a0001c0001t0008g0061 a0001c0001t0008g0218 a0001c0001t0010g0006 a0001c0001t0011g0197 a0001c0001t0013g0126 a0001c0001t0015g0204 a0001c0001t0017g0121 a0001c0001t0019g0180 a0001c0001t0020g0074 a0001c0001t0027g0198 a0001c0001t0028g0085 a0001c0001t0029g0033 a0001c0001t0030g0034 a0001c0001t0031g0141 a0001c0001t0033g0154 a0001c0001t0038g0200 a0001c0001t0039g0139 a0001c0001t0040g0192 a0001c0001t0041g0165 a0001c0001t0044g0156 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0048 a0001c0002t0001g0079 a0001c0002t0001g0095 a0001c0002t0001g0104 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0001g0209 a0001c0002t0002g0046 a0001c0002t0003g0076 a0001c0002t0003g0118 a0001c0002t0003g0134 a0001c0002t0004g0123 a0001c0002t0004g0169 a0001c0002t0004g0210 a0001c0002t0005g0177 a0001c0002t0005g0196 a0001c0002t0007g0072 a0001c0002t0007g0073 a0001c0002t0007g0135 a0001c0002t0007g0136 a0001c0002t0008g0213 a0001c0002t0009g0108 a0001c0002t0010g0008 a0001c0002t0013g0087 a0001c0002t0015g0178 a0001c0002t0017g0183 a0001c0002t0034g0235 a0001c0002t0035g0032 a0001c0002t0043g0224 a0001c0002t0046g0105 a0002c0003t0001g0239 a0002c0003t0003g0236 a0002c0003t0003g0240 a0002c0003t0004g0237 a0002c0003t0004g0238	116	240	0.4833	-9	c.550 others(26): Show c.550+1344_550+1352delCTCTTTTTT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	3/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27946647	GAAAGAAA others(2): Show GAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02976.hp1 HG03710.hp1 others(1): Show HG02886.hp1 HG02976.hp1 HG03710.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0128 a0001c0002t0001g0025 a0001c0002t0001g0036 others(1): Show a0001c0001t0001g0128 a0001c0002t0001g0025 a0001c0002t0001g0036 a0001c0002t0006g0071	4	240	0.0167	-9	c.397 others(28): Show c.397+16500_397+16508delTCTTTCTTT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSK3B_chr3_119816321_120099447	119865462	ATATATTT others(2): Show ATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01993.hp1 HG02027.hp1 others(14): Show HG00639.hp2 HG01993.hp1 HG02027.hp1 HG02257.hp1 HG02451.hp2 HG02683.hp1 HG02886.hp1 HG02970.hp2 HG03491.hp1 HG03688.hp2 HG04204.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0035 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0035 a0001c0001t0050 a0001c0005t0001 a0001c0005t0026	a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0128 others(14): Show a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0004g0094 a0001c0001t0035g0005 a0001c0001t0050g0188 a0001c0005t0001g0086 a0001c0005t0001g0206 a0001c0005t0026g0089 a0001c0005t0026g0090	17	300	0.0567	-9	c.910 others(26): Show c.910-1866_910-1858delAAAAATATA	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	8/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	119865464	ATATTTTT others(2): Show ATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG01106.hp2 others(13): Show HG00741.hp1 HG01099.hp1 HG01106.hp2 HG01346.hp1 HG01943.hp1 HG02129.hp2 HG02809.hp2 HG02895.hp2 HG06807.hp2 NA18998.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0029 a0001c0001t0036 a0001c0001t0038 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059	a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0172 others(13): Show a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0004g0152 a0001c0001t0004g0162 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0008 a0001c0001t0014g0025 a0001c0001t0029g0215 a0001c0001t0036g0009 a0001c0001t0038g0015 a0001c0001t0055g0212 a0001c0001t0058g0219 a0001c0001t0059g0295	16	300	0.0533	-9	c.910 others(26): Show c.910-1868_910-1860delAAAAAAATA	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	8/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	120000918	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02723.hp1 others(5): Show HG02055.hp1 HG02615.hp2 HG02723.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0053 a0001c0002t0007 a0001c0002t0053	a0001c0002t0007g0195 a0001c0002t0007g0196 a0001c0002t0007g0197 others(5): Show a0001c0002t0007g0195 a0001c0002t0007g0196 a0001c0002t0007g0197 a0001c0002t0007g0198 a0001c0002t0007g0199 a0001c0002t0007g0200 a0001c0002t0007g0201 a0001c0002t0053g0207	8	300	0.0267	-9	c.282 others(26): Show c.282+1119_282+1127delAAAAAAAAA	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	120077838	TCTTCCTT others(2): Show TCTTCCTTTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp1 HG02257.hp2 others(11): Show HG00735.hp2 HG02109.hp1 HG02257.hp2 HG02630.hp1 HG03098.hp2 HG06807.hp1 NA18947.hp2 NA18950.hp2 NA18955.hp1 NA18988.hp2 NA19005.hp1 NA19072.hp2 NA19082.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016	a0001c0002t0012g0057 a0001c0002t0012g0058 a0001c0002t0012g0059 others(11): Show a0001c0002t0012g0057 a0001c0002t0012g0058 a0001c0002t0012g0059 a0001c0002t0012g0062 a0001c0002t0012g0063 a0001c0002t0013g0055 a0001c0002t0013g0056 a0001c0002t0013g0060 a0001c0002t0013g0061 a0001c0002t0013g0064 a0001c0002t0016g0202 a0001c0002t0016g0203 a0001c0002t0016g0204 a0001c0002t0016g0205	14	300	0.0467	-9	c.88+ others(26): Show c.88+15500_88+15508delTAAAGGAAG	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	1/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	120079344	ACACACAT others(2): Show ACACACATTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp1 HG02074.hp2 others(11): Show HG01261.hp2 HG01433.hp1 HG02074.hp2 HG02135.hp1 HG02809.hp1 HG02965.hp2 HG03139.hp1 HG03516.hp1 HG04228.hp1 NA18951.hp1 NA19010.hp2 NA19065.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0003 a0001c0001t0018 a0001c0001t0020 others(4): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0040 a0003c0008t0043	a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0042 others(11): Show a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0018g0208 a0001c0001t0020g0220 a0001c0001t0024g0032 a0001c0001t0024g0033 a0001c0001t0025g0038 a0001c0001t0040g0054 a0003c0008t0043g0045	14	300	0.0467	-9	c.88+ others(26): Show c.88+13994_88+14002delAAATGTGTG	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	1/10			chr3	TogoVar
GSPT1_chr16_11863128_11920956	11894155	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00642.hp1 others(59): Show HG00621.hp2 HG00639.hp2 HG00642.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18994.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19074.hp1 NA19075.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0015	a0001c0001 a0002c0002 a0012c0015 others(1): Show a0001c0001 a0002c0002 a0012c0015 a0015c0020	a0001c0001t0002 a0002c0002t0002 a0002c0002t0011 others(7): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0011 a0002c0002t0035 a0002c0002t0036 a0002c0002t0044 a0002c0002t0046 a0002c0002t0047 a0012c0015t0019 a0015c0020t0002	a0001c0001t0002g0224 a0002c0002t0002g0002 a0002c0002t0002g0254 others(56): Show a0001c0001t0002g0224 a0002c0002t0002g0002 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0294 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0303 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0324 a0002c0002t0011g0004 a0002c0002t0011g0276 a0002c0002t0011g0284 a0002c0002t0011g0293 a0002c0002t0011g0305 a0002c0002t0035g0073 a0002c0002t0036g0074 a0002c0002t0044g0314 a0002c0002t0046g0319 a0002c0002t0047g0280 a0012c0015t0019g0325 a0012c0015t0019g0326 a0015c0020t0002g0079	62	372	0.1667	-9	c.698 others(24): Show c.698+790_698+798delTTTTTTTTT	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	5/14			chr16	TogoVar
GSTA1_chr6_52786371_52808816	52807382	CAATAATA others(2): Show CAATAATAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00558.hp2 others(65): Show HG00099.hp1 HG00140.hp2 HG00558.hp2 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01993.hp2 HG02040.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02523.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18942.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp1 NA18993.hp2 NA19001.hp2 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19064.hp2 NA19067.hp2 NA19077.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0005 a0001c0001t0001g0103 a0001c0001t0001g0128 others(39): Show a0001c0001t0001g0005 a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0003g0009 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0002t0002g0007 a0001c0002t0002g0020 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0039 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184	68	436	0.1560	-9	c.-36 others(20): Show c.-3637_-3629delATTATTATT	GSTA1	ENSG00000243955.6	transcript	ENST00000334575.6	protein_coding		3567		chr6	TogoVar
GSTA2_chr6_52745087_52768475	52759563	GTTTTTTT others(2): Show GTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp1 others(61): Show HG00099.hp1 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01361.hp2 HG01516.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02735.hp1 HG03239.hp1 HG03492.hp1 HG03669.hp1 HG04184.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18957.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18995.hp1 NA18995.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0049 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0003g0002 a0001c0001t0003g0029 a0001c0001t0003g0050 a0001c0001t0003g0095 a0001c0001t0003g0129 a0001c0001t0005g0099 a0001c0001t0006g0097 a0001c0001t0009g0098 a0001c0001t0012g0100	64	440	0.1455	-9	c.-30 others(26): Show c.-30-1595_-30-1587delAAAAAAAAA	GSTA2	ENSG00000244067.3	transcript	ENST00000493422.3	protein_coding	1/6			chr6	TogoVar
GSTCD_chr4_105703784_105852725	105755056	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02015.hp2 HG02300.hp1 others(4): Show HG01516.hp1 HG02015.hp2 HG02300.hp1 HG03834.hp2 HG04115.hp2 NA18994.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0152 others(4): Show a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0011g0147	7	186	0.0376	-9	c.124 others(30): Show c.1240+25592_1240+25600delAAAAAAAAA	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTCD_chr4_105703784_105852725	105766887	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02970.hp2 HG03486.hp2 others(2): Show HG01975.hp2 HG02970.hp2 HG03486.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0093 others(2): Show a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0099	5	186	0.0269	-9	c.124 others(30): Show c.1240+37405_1240+37413delTTTTTTTTT	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTCD_chr4_105703784_105852725	105774334	GCATTTAG others(2): Show GCATTTAGCC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp2 NA20129.hp2 HG03098.hp1 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0069 a0001c0001t0003g0135 a0001c0001t0013g0070 a0001c0001t0003g0069 a0001c0001t0003g0135 a0001c0001t0013g0070	3	186	0.0161	-9	c.124 others(30): Show c.1240+44842_1240+44850delGCCCATTTA	GSTCD	ENSG00000138780.15	transcript	ENST00000515279.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GSTZ1_chr14_77316036_77336597	77326365	TCTGTGTG others(2): Show TCTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02056.hp1 others(21): Show HG01891.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02257.hp1 HG02559.hp1 HG02615.hp2 HG02723.hp1 HG02738.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG04204.hp2 HG06807.hp1 NA18940.hp2 NA18978.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0037 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0138	24	434	0.0553	-9	c.68- others(22): Show c.68-463_68-455delCTGTGTGTG	GSTZ1	ENSG00000100577.19	transcript	ENST00000216465.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
GTDC1_chr2_143933068_144337512	144133411	TTATATAT others(2): Show TTATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG01243.hp2 others(22): Show HG00140.hp2 HG00438.hp1 HG01243.hp2 HG01358.hp1 HG01975.hp1 HG02027.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp2 HG02723.hp1 HG02896.hp1 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18951.hp2 NA18960.hp1 NA18980.hp2 NA18986.hp2 NA19003.hp2 NA19066.hp2 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0003t0036 a0001c0003t0046	a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 others(22): Show a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0002g0073 a0001c0001t0002g0094 a0001c0001t0002g0113 a0001c0001t0004g0015 a0001c0001t0004g0020 a0001c0001t0004g0055 a0001c0001t0007g0093 a0001c0001t0012g0092 a0001c0001t0012g0111 a0001c0001t0016g0009 a0001c0001t0017g0018 a0001c0001t0023g0042 a0001c0001t0024g0123 a0001c0001t0033g0019 a0001c0001t0038g0079 a0001c0001t0039g0046 a0001c0003t0036g0106 a0001c0003t0046g0109	25	124	0.2016	-9	c.521 others(26): Show c.521+8462_521+8470delTTATATATA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144145983	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02647.hp1 others(5): Show HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02922.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0001c0001t0008 a0006c0013t0045 a0001c0001t0001 a0001c0001t0008 a0006c0013t0045	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(5): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0008g0040 a0001c0001t0008g0057 a0001c0001t0008g0104 a0006c0013t0045g0101	8	124	0.0645	-9	c.180 others(24): Show c.180-253_180-245delTTTTTTTTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11			chr2	TogoVar
GTF2H1_chr11_18317567_18372045	18367881	ATATATAT others(2): Show ATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG02083.hp2 others(10): Show HG00423.hp2 HG00621.hp2 HG02083.hp2 HG02622.hp1 NA18940.hp1 NA18944.hp1 NA18975.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA19000.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0056 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0003g0198	13	370	0.0351	-9	c.20 others(20): Show c.2013_*2021delTATATATAT	GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding		837		chr11	TogoVar
GTF2H2_chr5_71030347_71072676	71030448	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp2 others(5): Show HG01069.hp1 HG01071.hp2 HG01175.hp2 HG01257.hp2 HG01433.hp2 HG02004.hp2 HG02809.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0006g0068	8	79	0.1013	-9	c.52 others(20): Show c.5220_*5228delTTTTTTTTT	GTF2H2	ENSG00000145736.15	transcript	ENST00000274400.10	protein_coding		4898		chr5	TogoVar
GTF2H2_chr5_71030347_71072676	71052915	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp2 others(5): Show HG01069.hp1 HG01071.hp2 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01981.hp1 HG02145.hp2 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 a0001c0001t0001 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0029 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0002t0001g0044 a0001c0002t0001g0045 a0003c0004t0001g0042	8	79	0.1013	-9	c.470 others(26): Show c.470+2428_470+2436delAAAAAAAAA	GTF2H2	ENSG00000145736.15	transcript	ENST00000274400.10	protein_coding	8/15			chr5	TogoVar
GTF2H4_chr6_30903207_30919106	30905350	CTTTTCTT others(2): Show CTTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(164): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18991.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0003c0009 a0004c0010	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0003t0003 a0001c0006t0003 a0001c0008t0001 a0003c0009t0002 a0004c0010t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0003g0005 a0001c0002t0003g0008 a0001c0002t0003g0015 a0001c0002t0003g0019 a0001c0002t0003g0024 a0001c0002t0005g0001 a0001c0002t0006g0001 a0001c0003t0003g0012 a0001c0003t0003g0017 a0001c0006t0003g0008 a0001c0008t0001g0004 a0003c0009t0002g0001 a0004c0010t0002g0001	167	411	0.4063	-9	c.-30 others(20): Show c.-3056_-3048delTTTTCTTTT	GTF2H4	ENSG00000213780.11	transcript	ENST00000259895.9	protein_coding		2856		chr6	TogoVar
GTF2H4_chr6_30903207_30919106	30905355	CTTTTTTT others(2): Show CTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02572.hp2 others(3): Show HG02258.hp1 HG02451.hp1 HG02572.hp2 HG03471.hp2 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	6	411	0.0146	-9	c.-30 others(20): Show c.-3051_-3043delTTTTTTTTT	GTF2H4	ENSG00000213780.11	transcript	ENST00000259895.9	protein_coding		2851		chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169678	AATATATA others(2): Show AATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18952.hp2 NA19086.hp2 others(1): Show HG00408.hp2 NA18952.hp2 NA19086.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0024 a0001c0001t0003g0111 a0001c0001t0003g0112	4	384	0.0104	-9	c.-34 others(24): Show c.-34-785_-34-777delAATATATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2IRD1_chr7_74448906_74607605	74517001	TTTGTTGT others(2): Show TTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02615.hp1 others(3): Show HG02257.hp2 HG02451.hp2 HG02615.hp1 HG03098.hp2 NA18946.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0099 a0001c0001t0001g0147 a0002c0003t0001g0226 others(3): Show a0001c0001t0001g0099 a0001c0001t0001g0147 a0002c0003t0001g0226 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0248	6	262	0.0229	-9	c.422 others(26): Show c.422-1108_422-1100delGTTGTTGTT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2IRD1_chr7_74448906_74607605	74520842	CTATTATT others(2): Show CTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00642.hp2 others(25): Show HG00140.hp2 HG00423.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01928.hp2 HG01981.hp2 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02683.hp1 HG02922.hp1 HG03139.hp2 HG03471.hp2 HG03704.hp2 HG04115.hp1 HG04204.hp2 NA18966.hp2 NA18993.hp1 NA19000.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp1 NA19065.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0010 a0001c0019 a0002c0003 others(5): Show a0001c0010 a0001c0019 a0002c0003 a0002c0004 a0002c0006 a0002c0008 a0007c0018 a0008c0021	a0001c0010t0001 a0001c0019t0005 a0002c0003t0001 others(10): Show a0001c0010t0001 a0001c0019t0005 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0011 a0002c0004t0001 a0002c0006t0002 a0002c0008t0001 a0002c0008t0008 a0007c0018t0002 a0008c0021t0002	a0001c0010t0001g0135 a0001c0010t0001g0176 a0001c0019t0005g0086 others(25): Show a0001c0010t0001g0135 a0001c0010t0001g0176 a0001c0019t0005g0086 a0002c0003t0001g0001 a0002c0003t0001g0012 a0002c0003t0001g0022 a0002c0003t0001g0187 a0002c0003t0001g0189 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0235 a0002c0003t0001g0250 a0002c0003t0002g0029 a0002c0003t0002g0132 a0002c0003t0002g0238 a0002c0003t0002g0246 a0002c0003t0003g0042 a0002c0003t0003g0234 a0002c0003t0003g0236 a0002c0003t0004g0214 a0002c0003t0011g0256 a0002c0004t0001g0062 a0002c0006t0002g0215 a0002c0008t0001g0253 a0002c0008t0001g0254 a0002c0008t0008g0207 a0007c0018t0002g0041 a0008c0021t0002g0220	28	262	0.1069	-9	c.917 others(24): Show c.917-329_917-321delTATTATTAT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2IRD1_chr7_74448906_74607605	74562555	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00642.hp2 others(27): Show HG00423.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01496.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02055.hp2 HG02132.hp1 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG03139.hp2 HG03239.hp1 HG03704.hp2 HG04115.hp1 HG04204.hp2 NA18906.hp2 NA18966.hp2 NA18993.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19056.hp1 NA19065.hp2 NA19090.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0012 a0001c0016 others(7): Show a0001c0001 a0001c0012 a0001c0016 a0002c0002 a0002c0003 a0002c0006 a0002c0008 a0002c0009 a0006c0015 a0008c0021	a0001c0001t0002 a0001c0012t0001 a0001c0016t0001 others(12): Show a0001c0001t0002 a0001c0012t0001 a0001c0016t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0011 a0002c0006t0002 a0002c0008t0001 a0002c0008t0008 a0002c0009t0001 a0002c0009t0003 a0006c0015t0002 a0008c0021t0002	a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0012t0001g0229 others(27): Show a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0012t0001g0229 a0001c0016t0001g0249 a0002c0002t0001g0143 a0002c0003t0001g0001 a0002c0003t0001g0012 a0002c0003t0001g0189 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0235 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0002g0029 a0002c0003t0002g0132 a0002c0003t0002g0238 a0002c0003t0002g0246 a0002c0003t0003g0042 a0002c0003t0003g0188 a0002c0003t0003g0234 a0002c0003t0003g0236 a0002c0003t0011g0256 a0002c0006t0002g0204 a0002c0008t0001g0253 a0002c0008t0001g0254 a0002c0008t0008g0207 a0002c0009t0001g0247 a0002c0009t0003g0031 a0006c0015t0002g0218 a0008c0021t0002g0220	30	262	0.1145	-9	c.232 others(28): Show c.2320+2921_2320+2929delTTTTTTTTT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2IRD2_chr7_74791151_74856605	74852466	CTCTCTTT others(2): Show CTCTCTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02965.hp2 HG03654.hp2 HG01109.hp1 HG02965.hp2 HG03654.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0003 a0001c0001t0002 a0003c0005t0003	a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0003c0005t0003g0001	3	8	0.3750	-9	c.-11 others(20): Show c.-1114_-1106delAAAAAGAGA	GTF2IRD2	ENSG00000196275.16	transcript	ENST00000451013.7	protein_coding		862		chr7	TogoVar
GTF3A_chr13_27419619_27440823	27438483	GTTTTTTT others(2): Show GTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01515.hp1 HG01516.hp1 others(7): Show HG01358.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG02300.hp2 HG02698.hp1 HG03491.hp1 HG03492.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0002g0055 a0001c0001t0005g0008 a0001c0001t0001g0008 a0001c0001t0002g0055 a0001c0001t0005g0008	10	420	0.0238	-9	c.28 others(20): Show c.2887_*2895delTTTTTTTTT	GTF3A	ENSG00000122034.17	transcript	ENST00000381140.10	protein_coding		2661		chr13	TogoVar
GTF3C1_chr16_27455613_27554913	27509757	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02615.hp1 others(5): Show HG02055.hp2 HG02451.hp1 HG02615.hp1 HG02886.hp2 HG03209.hp1 HG03516.hp2 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0005g0066 a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0005g0066	8	220	0.0364	-9	c.112 others(28): Show c.1127-1111_1127-1103delTTTTTTTTT	GTF3C1	ENSG00000077235.18	transcript	ENST00000356183.9	protein_coding	7/36			chr16	TogoVar
GTF3C3_chr2_196758035_196804683	196766855	TATTACAG others(2): Show TATTACAGTG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp2 NA19043.hp2 HG03453.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0021 a0001c0001t0001g0124 a0001c0001t0001g0125	3	252	0.0119	-9	c.238 others(26): Show c.2386-147_2386-139delCACTGTAAT	GTF3C3	ENSG00000119041.11	transcript	ENST00000263956.8	protein_coding	16/17			chr2	TogoVar
GTF3C6_chr6_110953706_110972872	110972322	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02647.hp2 HG02818.hp2 others(5): Show HG00741.hp1 HG02647.hp2 HG02818.hp2 HG03098.hp1 HG03130.hp1 HG03492.hp1 HG03492.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0051 a0003c0004t0001g0065	8	346	0.0231	-9	c.45 others(20): Show c.4533_*4541delAAAAAAAAA	GTF3C6	ENSG00000155115.7	transcript	ENST00000329970.8	protein_coding		4451		chr6	TogoVar
GTPBP1_chr22_38700944_38738587	38731011	TGTGTGTG others(2): Show TGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02717.hp1 HG03139.hp2 others(1): Show HG01891.hp1 HG02717.hp1 HG03139.hp2 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0042 a0001c0002t0043 a0001c0002t0020 a0001c0002t0042 a0001c0002t0043	a0001c0002t0020g0035 a0001c0002t0020g0065 a0001c0002t0042g0003 others(1): Show a0001c0002t0020g0035 a0001c0002t0020g0065 a0001c0002t0042g0003 a0001c0002t0043g0054	4	382	0.0105	-9	c.30 others(18): Show c.308_*316delGTGTGTGTG	GTPBP1	ENSG00000100226.16	transcript	ENST00000216044.10	protein_coding	12/12	308		chr22	TogoVar
GTPBP1_chr22_38700944_38738587	38731238	AGGGGCTT others(2): Show AGGGGCTTCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp1 NA19066.hp2 NA19075.hp1 others(1): Show NA19009.hp1 NA19066.hp2 NA19075.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0001 a0001c0001t0017g0001 a0001c0001t0016g0001 a0001c0001t0017g0001	4	382	0.0105	-9	c.53 others(18): Show c.538_*546delGCTTCTGGG	GTPBP1	ENSG00000100226.16	transcript	ENST00000216044.10	protein_coding	12/12	538	INFO_REALIGN_3_PRIME	chr22	TogoVar
GTPBP6_chrX_299759_323796	313903	GCAAAACC others(2): Show GCAAAACCTC	G G	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0028 a0028	a0028c0017 a0028c0017	a0028c0017t0002 a0028c0017t0002	a0028c0017t0002g0010 a0028c0017t0002g0010	1	155	0.0065	-9	c.757 others(24): Show c.757+238_757+246delGAGGTTTTG	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	5/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	317712	CCCCACCC others(2): Show CCCCACCCCA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	155	0.0065	-9	c.350 others(24): Show c.350-670_350-662delTGGGGTGGG	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	1/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	317725	CACCCCAC others(2): Show CACCCCACGG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0003 a0018c0030t0003	a0018c0030t0003g0102 a0018c0030t0003g0102	1	155	0.0065	-9	c.350 others(24): Show c.350-683_350-675delCCGTGGGGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	1/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	322361	AAAAAGAA others(2): Show AAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG03491.hp2 HG00408.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0002g0067 a0001c0001t0001g0045 a0001c0001t0002g0067	2	155	0.0129	-9	c.-35 others(20): Show c.-3583_-3575delCTTTCTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3566		chrX	TogoVar
GTSE1_chr22_46291870_46335810	46319581	GAGGCCAC others(2): Show GAGGCCACTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02572.hp1 others(2): Show HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02723.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0009 a0001c0009t0001g0053 a0001c0009t0001g0054 others(1): Show a0001c0009t0001g0009 a0001c0009t0001g0053 a0001c0009t0001g0054 a0001c0009t0001g0055	5	200	0.0250	-9	c.143 others(28): Show c.1432+3174_1432+3182delCACTTAGGC	GTSE1	ENSG00000075218.19	transcript	ENST00000454366.2	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
GUCA1A_chr6_42168364_42185056	42169915	AAATAATA others(2): Show AAATAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01258.hp1 HG01884.hp1 others(44): Show HG00741.hp1 HG01258.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA18948.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18979.hp2 NA18980.hp2 NA18989.hp2 NA18994.hp1 NA19000.hp2 NA19004.hp1 NA19006.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19068.hp1 NA19082.hp1 NA19087.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0003g0004 a0001c0001t0006g0004 a0001c0001t0007g0015 a0001c0001t0011g0003 a0001c0003t0002g0034	47	412	0.1141	-9	c.-36 others(20): Show c.-3698_-3690delAATAATAAT	GUCA1A	ENSG00000048545.18	transcript	ENST00000372958.2	protein_coding		3448		chr6	TogoVar
GUCY1A1_chr4_155661848_155742059	155704536	GGGGGACT others(2): Show GGGGGACTCA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01071.hp2 others(10): Show HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01168.hp1 HG02602.hp2 HG03017.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 others(2): Show a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0010t0037	a0001c0001t0007g0050 a0001c0001t0007g0073 a0001c0001t0007g0074 others(10): Show a0001c0001t0007g0050 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0118 a0001c0001t0007g0202 a0001c0001t0007g0226 a0001c0001t0007g0227 a0001c0001t0020g0154 a0001c0001t0020g0155 a0001c0001t0021g0121 a0001c0001t0021g0203 a0001c0001t0036g0201 a0001c0010t0037g0084	13	330	0.0394	-9	c.317 others(24): Show c.317+547_317+555delGACTCAGGG	GUCY1A1	ENSG00000164116.17	transcript	ENST00000506455.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GUCY1A2_chr11_106669019_107023476	106855905	ATTTATTT others(2): Show ATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00673.hp1 others(52): Show HG00099.hp1 HG00408.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02080.hp2 HG02155.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18941.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18964.hp1 NA18971.hp2 NA18974.hp2 NA18991.hp1 NA18993.hp1 NA19003.hp1 NA19010.hp1 NA19058.hp2 NA19079.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0024 a0001c0001t0030 a0001c0001t0037 a0001c0001t0049 a0001c0001t0064 a0001c0002t0001 a0001c0002t0005 a0001c0003t0003 a0001c0003t0014 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0058 a0001c0007t0042 a0001c0009t0001 a0001c0014t0001	a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0124 others(52): Show a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0133 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0003g0145 a0001c0001t0004g0120 a0001c0001t0004g0138 a0001c0001t0005g0101 a0001c0001t0005g0119 a0001c0001t0005g0134 a0001c0001t0005g0154 a0001c0001t0006g0135 a0001c0001t0006g0149 a0001c0001t0006g0152 a0001c0001t0007g0144 a0001c0001t0008g0022 a0001c0001t0008g0143 a0001c0001t0010g0074 a0001c0001t0010g0121 a0001c0001t0011g0118 a0001c0001t0011g0123 a0001c0001t0011g0131 a0001c0001t0011g0132 a0001c0001t0011g0136 a0001c0001t0024g0148 a0001c0001t0024g0161 a0001c0001t0030g0163 a0001c0001t0037g0075 a0001c0001t0049g0147 a0001c0001t0064g0142 a0001c0002t0001g0202 a0001c0002t0005g0222 a0001c0003t0003g0245 a0001c0003t0014g0246 a0001c0004t0001g0212 a0001c0004t0002g0211 a0001c0004t0005g0227 a0001c0004t0058g0217 a0001c0007t0042g0128 a0001c0009t0001g0130 a0001c0014t0001g0255	55	256	0.2148	-9	c.120 others(30): Show c.1207-45436_1207-45428delATAAATAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar

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