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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Select column to sort.

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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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GDAP2_chr1_117858485_117934621	117920673	GCCCACCA others(17): Show GCCCACCAATTCTACTTTCCAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02258.hp1 HG02273.hp1 others(8): Show HG01975.hp1 HG02258.hp1 HG02273.hp1 HG02698.hp2 HG02965.hp1 HG03491.hp1 HG03834.hp1 HG04115.hp2 NA18962.hp1 NA19012.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0024 a0001c0001t0025 others(1): Show a0001c0001t0008 a0001c0001t0024 a0001c0001t0025 a0001c0001t0059	a0001c0001t0008g0024 a0001c0001t0008g0053 a0001c0001t0008g0054 others(6): Show a0001c0001t0008g0024 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0024g0023 a0001c0001t0025g0050 a0001c0001t0025g0051 a0001c0001t0059g0052	11	364	0.0302	-24	c.-67 others(39): Show c.-67-273_-67-250delTTTCTGGAAAGTAGAATTGGTGGG		GDAP2	ENSG00000196505.11	transcript	ENST00000369443.10	protein_coding	1/13						chr1	TogoVar
GDA_chr9_72144440_72257224	72148300	GGTGTGTG others(17): Show GGTGTGTGTATGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	312	0.0032	-24	c.-12 others(35): Show c.-1259_-1236delGTGTGTGTATGTGTGTGTGTGTGT		GDA	ENSG00000119125.17	transcript	ENST00000358399.8	protein_coding					1139		chr9	TogoVar
GDI2_chr10_5760223_5818434	5794188	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03491.hp2 NA18906.hp1 HG03139.hp1 HG03491.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0063 a0001c0001t0002g0081 a0001c0002t0002g0064 a0001c0001t0002g0063 a0001c0001t0002g0081 a0001c0002t0002g0064	3	398	0.0075	-24	c.388 others(39): Show c.388+673_388+696delATATATATATATATATATATATAT		GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	4/10						chr10	TogoVar
GDPD1_chr17_59215511_59280970	59219059	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(145): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0005t0005 a0002c0003t0005	a0001c0001t0001g0080 a0001c0001t0002g0034 a0001c0001t0002g0035 others(145): Show a0001c0001t0001g0080 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0312 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0006g0270 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0284 a0001c0001t0006g0293 a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0311 a0001c0001t0010g0078 a0001c0001t0010g0079 a0001c0001t0010g0081 a0001c0001t0010g0156 a0001c0001t0010g0246 a0001c0001t0013g0036 a0001c0001t0013g0176 a0001c0001t0013g0232 a0001c0001t0014g0177 a0001c0001t0014g0186 a0001c0001t0014g0220 a0001c0001t0018g0002 a0001c0001t0018g0005 a0001c0001t0018g0027 a0001c0001t0021g0001 a0001c0001t0021g0020 a0001c0001t0022g0008 a0001c0001t0022g0016 a0001c0001t0024g0296 a0001c0001t0033g0011 a0001c0001t0034g0026 a0001c0001t0035g0249 a0001c0001t0037g0263 a0001c0001t0038g0216 a0001c0005t0005g0021 a0002c0003t0005g0031	148	312	0.4744	-24	c.-15 others(35): Show c.-1550_-1527delTTTTTTTTTTTTTTTTTTTTTTTT		GDPD1	ENSG00000153982.11	transcript	ENST00000284116.9	protein_coding					1451		chr17	TogoVar
GEMIN2_chr14_39109323_39141973	39132984	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02572.hp2 others(4): Show HG01243.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0145 a0001c0001t0001g0146 others(4): Show a0001c0001t0001g0122 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0241 a0001c0001t0001g0263	7	424	0.0165	-24	c.712 others(39): Show c.712-659_712-636delATATATATGTGTGTGTGTGTGTGT		GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GEN1_chr2_17749138_17793946	17778300	ACATATAT others(17): Show ACATATATGTATATACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18982.hp1 HG02698.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0161 a0001c0001t0004g0167 a0001c0001t0001g0161 a0001c0001t0004g0167	2	318	0.0063	-24	c.126 others(41): Show c.1264+238_1264+261delCATATATGTATATACACACACACG		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13						chr2	TogoVar
GEN1_chr2_17749138_17793946	17778324	GTGTACAT others(17): Show GTGTACATATATGTATACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(115): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19067.hp2 NA19070.hp1 NA19089.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0004 a0014 others(2): Show a0001 a0004 a0014 a0016 a0017	a0001c0001 a0001c0020 a0004c0004 others(3): Show a0001c0001 a0001c0020 a0004c0004 a0014c0016 a0016c0017 a0017c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0034 a0001c0001t0044 a0001c0001t0053 a0001c0020t0001 a0004c0004t0001 a0004c0004t0023 a0004c0004t0039 a0014c0016t0001 a0016c0017t0001 a0017c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0004g0001 a0001c0001t0004g0146 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0009g0015 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0142 a0001c0001t0014g0015 a0001c0001t0014g0141 a0001c0001t0034g0001 a0001c0001t0044g0001 a0001c0001t0053g0185 a0001c0020t0001g0004 a0004c0004t0001g0003 a0004c0004t0001g0006 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0041 a0004c0004t0001g0042 a0004c0004t0001g0193 a0004c0004t0001g0194 a0004c0004t0001g0195 a0004c0004t0001g0196 a0004c0004t0001g0203 a0004c0004t0001g0204 a0004c0004t0001g0205 a0004c0004t0023g0144 a0004c0004t0023g0148 a0004c0004t0039g0042 a0014c0016t0001g0145 a0016c0017t0001g0001 a0017c0014t0001g0001	118	318	0.3711	-24	c.126 others(41): Show c.1264+265_1264+288delACATATATGTATACACACACATGT		GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GET1_chr21_39375326_39402889	39378582	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01255.hp2 HG01261.hp1 others(4): Show HG00642.hp2 HG01255.hp2 HG01261.hp1 HG01433.hp1 HG02257.hp2 NA18980.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0002g0025 a0001c0001t0002g0079	7	338	0.0207	-24	c.-18 others(35): Show c.-1802_-1779delCTTTCTTTCTTTCTTTCTTTCTTT		GET1	ENSG00000182093.16	transcript	ENST00000649170.1	protein_coding					1743		chr21	TogoVar
GET1_chr21_39375326_39402889	39378629	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02486.hp1 HG02683.hp1 others(4): Show HG00099.hp1 HG02486.hp1 HG02683.hp1 HG02717.hp2 NA18939.hp1 NA19007.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0102 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0102 a0001c0001t0001g0149 a0002c0002t0005g0140	7	338	0.0207	-24	c.-17 others(35): Show c.-1755_-1732delTCTTTCTTTCTTTCTTTCTTTCTG		GET1	ENSG00000182093.16	transcript	ENST00000649170.1	protein_coding					1696		chr21	TogoVar
GET4_chr7_871554_901436	892631	GTGGGTGT others(17): Show GTGGGTGTATGTGCAAGTGTAGACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(150): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0012 others(2): Show a0001c0001 a0001c0009 a0001c0012 a0001c0013 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0024 a0001c0001t0031 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0009t0001 a0001c0012t0002 a0001c0013t0032 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0139 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0264 a0001c0001t0001g0293 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0208 a0001c0001t0002g0222 a0001c0001t0002g0236 a0001c0001t0002g0242 a0001c0001t0008g0182 a0001c0001t0008g0188 a0001c0001t0009g0002 a0001c0001t0009g0178 a0001c0001t0010g0191 a0001c0001t0012g0180 a0001c0001t0012g0186 a0001c0001t0013g0189 a0001c0001t0013g0194 a0001c0001t0016g0002 a0001c0001t0022g0225 a0001c0001t0024g0187 a0001c0001t0031g0001 a0001c0001t0037g0213 a0001c0001t0039g0004 a0001c0001t0041g0001 a0001c0009t0001g0042 a0001c0009t0001g0268 a0001c0012t0002g0014 a0001c0013t0032g0014 a0002c0007t0001g0015	153	384	0.3984	-24	c.746 others(39): Show c.746+217_746+240delGTGTATGTGCAAGTGTAGACATGG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
GFPT2_chr5_180295698_180358336	180311984	AGGCAGGG others(17): Show AGGCAGGGAGGTGGGGAGGCTGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(92): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG02965.hp1 HG03017.hp2 HG03130.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19065.hp1 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0004 a0001c0005 a0002c0002 others(3): Show a0001c0004 a0001c0005 a0002c0002 a0004c0011 a0005c0010 a0006c0016	a0001c0004t0030 a0001c0005t0003 a0002c0002t0003 others(9): Show a0001c0004t0030 a0001c0005t0003 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0020 a0002c0002t0022 a0002c0002t0025 a0004c0011t0003 a0005c0010t0002 a0006c0016t0003	a0001c0004t0030g0368 a0001c0005t0003g0107 a0001c0005t0003g0134 others(87): Show a0001c0004t0030g0368 a0001c0005t0003g0107 a0001c0005t0003g0134 a0002c0002t0003g0002 a0002c0002t0003g0007 a0002c0002t0003g0053 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0084 a0002c0002t0003g0087 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0109 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0115 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0123 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0152 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0158 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0210 a0002c0002t0003g0236 a0002c0002t0003g0244 a0002c0002t0003g0249 a0002c0002t0007g0022 a0002c0002t0007g0024 a0002c0002t0007g0025 a0002c0002t0007g0026 a0002c0002t0007g0030 a0002c0002t0007g0031 a0002c0002t0007g0035 a0002c0002t0007g0036 a0002c0002t0007g0037 a0002c0002t0007g0046 a0002c0002t0008g0012 a0002c0002t0008g0247 a0002c0002t0008g0248 a0002c0002t0009g0255 a0002c0002t0009g0259 a0002c0002t0009g0263 a0002c0002t0009g0287 a0002c0002t0009g0295 a0002c0002t0009g0301 a0002c0002t0009g0304 a0002c0002t0009g0360 a0002c0002t0020g0019 a0002c0002t0022g0021 a0002c0002t0025g0251 a0004c0011t0003g0008 a0005c0010t0002g0256 a0005c0010t0002g0257 a0006c0016t0003g0063	95	412	0.2306	-24	c.154 others(41): Show c.1546+422_1546+445delCCTCAGCCTCCCCACCTCCCTGCC		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	15/18						chr5	TogoVar
GFPT2_chr5_180295698_180358336	180312068	GGGGAGGC others(17): Show GGGGAGGCTGAGGACCAGGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00639.hp1 others(50): Show HG00423.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01074.hp2 HG01106.hp1 HG01255.hp2 HG01346.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02486.hp1 HG02523.hp1 HG02683.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18949.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18999.hp1 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0019 a0002c0008 a0001c0004 a0001c0019 a0002c0008	a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 others(5): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0010 a0001c0004t0013 a0001c0004t0024 a0001c0019t0001 a0002c0008t0001	a0001c0004t0001g0004 a0001c0004t0001g0010 a0001c0004t0001g0011 others(46): Show a0001c0004t0001g0004 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0089 a0001c0004t0001g0108 a0001c0004t0001g0110 a0001c0004t0001g0147 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0176 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0187 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0215 a0001c0004t0001g0217 a0001c0004t0001g0235 a0001c0004t0002g0013 a0001c0004t0002g0276 a0001c0004t0002g0326 a0001c0004t0002g0347 a0001c0004t0002g0365 a0001c0004t0004g0175 a0001c0004t0010g0034 a0001c0004t0010g0050 a0001c0004t0013g0051 a0001c0004t0013g0052 a0001c0004t0024g0072 a0001c0019t0001g0073 a0002c0008t0001g0174 a0002c0008t0001g0216	53	412	0.1286	-24	c.154 others(41): Show c.1546+338_1546+361delTGCCTCCCTGGTCCTCAGCCTCCC		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	15/18						chr5	TogoVar
GFPT2_chr5_180295698_180358336	180312124	GGGGAGGC others(17): Show GGGGAGGCTGAGGACCAGGGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp2 NA18906.hp1 others(1): Show HG02145.hp2 HG02622.hp2 NA18906.hp1 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0009t0002 others(1): Show a0001c0003t0001 a0001c0009t0001 a0001c0009t0002 a0001c0009t0006	a0001c0003t0001g0146 a0001c0009t0001g0172 a0001c0009t0002g0367 others(1): Show a0001c0003t0001g0146 a0001c0009t0001g0172 a0001c0009t0002g0367 a0001c0009t0006g0384	4	412	0.0097	-24	c.154 others(41): Show c.1546+282_1546+305delTGCCTCCCTGGTCCTCAGCCTCCC		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	15/18						chr5	TogoVar
GFPT2_chr5_180295698_180358336	180312172	AGGGAGGC others(17): Show AGGGAGGCTGAGGACCAGGGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(89): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG03017.hp2 HG03130.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19065.hp1 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0005 a0002c0002 a0004c0011 others(1): Show a0001c0005 a0002c0002 a0004c0011 a0006c0016	a0001c0005t0003 a0002c0002t0003 a0002c0002t0007 others(7): Show a0001c0005t0003 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0020 a0002c0002t0022 a0002c0002t0025 a0004c0011t0003 a0006c0016t0003	a0001c0005t0003g0107 a0001c0005t0003g0134 a0002c0002t0003g0002 others(84): Show a0001c0005t0003g0107 a0001c0005t0003g0134 a0002c0002t0003g0002 a0002c0002t0003g0007 a0002c0002t0003g0053 a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0084 a0002c0002t0003g0087 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0109 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0115 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0123 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0152 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0158 a0002c0002t0003g0160 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0210 a0002c0002t0003g0236 a0002c0002t0003g0244 a0002c0002t0003g0249 a0002c0002t0007g0022 a0002c0002t0007g0024 a0002c0002t0007g0025 a0002c0002t0007g0026 a0002c0002t0007g0030 a0002c0002t0007g0031 a0002c0002t0007g0035 a0002c0002t0007g0036 a0002c0002t0007g0037 a0002c0002t0007g0046 a0002c0002t0008g0012 a0002c0002t0008g0247 a0002c0002t0008g0248 a0002c0002t0009g0255 a0002c0002t0009g0259 a0002c0002t0009g0263 a0002c0002t0009g0287 a0002c0002t0009g0295 a0002c0002t0009g0301 a0002c0002t0009g0304 a0002c0002t0009g0360 a0002c0002t0020g0019 a0002c0002t0022g0021 a0002c0002t0025g0251 a0004c0011t0003g0008 a0006c0016t0003g0063	92	412	0.2233	-24	c.154 others(41): Show c.1546+234_1546+257delCGCCTCCCTGGTCCTCAGCCTCCC		GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	15/18						chr5	TogoVar
GFRA1_chr10_116051925_116278206	116057990	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02896.hp1 HG02109.hp1 HG02723.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0033 a0001c0002t0091 a0001c0001t0033 a0001c0002t0033 a0001c0002t0091	a0001c0001t0033g0092 a0001c0002t0033g0044 a0001c0002t0091g0006 a0001c0001t0033g0092 a0001c0002t0033g0044 a0001c0002t0091g0006	3	214	0.0140	-24	c.63 others(35): Show c.6384_*6407delCACACACACACACACACACACACA		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	11/11				6384		chr10	TogoVar
GFRA1_chr10_116051925_116278206	116064037	AATCATCA others(17): Show AATCATCATCATGATCATGATGATC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG01884.hp2 HG02109.hp2 others(10): Show HG00738.hp2 HG01884.hp2 HG02109.hp2 HG02145.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp2 HG02970.hp1 HG03041.hp1 HG03453.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0018 a0001c0001t0045 a0001c0001t0047 others(10): Show a0001c0001t0018 a0001c0001t0045 a0001c0001t0047 a0001c0001t0069 a0001c0001t0074 a0001c0001t0098 a0001c0001t0128 a0001c0001t0130 a0001c0002t0018 a0001c0002t0129 a0001c0005t0046 a0002c0003t0048 a0002c0003t0092	a0001c0001t0018g0139 a0001c0001t0045g0182 a0001c0001t0047g0169 others(10): Show a0001c0001t0018g0139 a0001c0001t0045g0182 a0001c0001t0047g0169 a0001c0001t0069g0202 a0001c0001t0074g0161 a0001c0001t0098g0043 a0001c0001t0128g0131 a0001c0001t0130g0086 a0001c0002t0018g0149 a0001c0002t0129g0051 a0001c0005t0046g0174 a0002c0003t0048g0171 a0002c0003t0092g0166	13	214	0.0608	-24	c.33 others(33): Show c.337_*360delGATCATCATGATCATGATGATGAT		GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	11/11				337		chr10	TogoVar
GFRA2_chr8_21685398_21793875	21713050	AGGGAGAC others(17): Show AGGGAGACGAGGGAAAGGGAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG03017.hp2 HG01168.hp1 HG01169.hp1 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0016 a0002c0002 a0002c0016	a0002c0002t0002 a0002c0016t0003 a0002c0002t0002 a0002c0016t0003	a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0016t0003g0272 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0016t0003g0272	3	322	0.0093	-24	c.795 others(41): Show c.795-7033_795-7010delCCCTCTCCCTTTCCCTCGTCTCCC		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21763950	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02040.hp1 HG02280.hp1 others(12): Show HG01243.hp2 HG02040.hp1 HG02280.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp1 HG06807.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0006 a0002c0002 others(6): Show a0001c0001 a0001c0006 a0002c0002 a0004c0009 a0004c0011 a0004c0015 a0004c0018 a0005c0012 a0005c0014	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(11): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0006t0002 a0002c0002t0003 a0004c0009t0005 a0004c0009t0013 a0004c0011t0005 a0004c0011t0009 a0004c0015t0008 a0004c0018t0040 a0005c0012t0010 a0005c0014t0003 a0005c0014t0006	a0001c0001t0005g0192 a0001c0001t0007g0075 a0001c0001t0009g0202 others(12): Show a0001c0001t0005g0192 a0001c0001t0007g0075 a0001c0001t0009g0202 a0001c0006t0002g0028 a0002c0002t0003g0282 a0004c0009t0005g0200 a0004c0009t0013g0190 a0004c0011t0005g0197 a0004c0011t0009g0195 a0004c0015t0008g0189 a0004c0015t0008g0196 a0004c0018t0040g0187 a0005c0012t0010g0194 a0005c0014t0003g0199 a0005c0014t0006g0083	15	322	0.0466	-24	c.439 others(43): Show c.439+10998_439+11021delGTGTGTGTGTGTGTGTGTGTGTGT		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	3/8						chr8	TogoVar
GFRA2_chr8_21685398_21793875	21775989	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0040 a0004c0018t0040	a0004c0018t0040g0187 a0004c0018t0040g0187	1	322	0.0031	-24	c.356 others(39): Show c.356-958_356-935delCACACACACACACACACACACACA		GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	2/8						chr8	TogoVar
GGACT_chr13_100525180_100593789	100550299	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0278 a0001c0001t0012g0278	1	376	0.0027	-24	c.-10 others(43): Show c.-10-17722_-10-17699delGTGTGTGTGTGTGTGTGTGTGTGT		GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2						chr13	TogoVar
GGT1_chr22_24598193_24633996	24599450	AGGGGTGT others(17): Show AGGGGTGTGCTCAGATTTGCATGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	426	0.0024	-24	c.-45 others(35): Show c.-4505_-4482delGGGGTGTGCTCAGATTTGCATGCC		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding					3742		chr22	TogoVar
GGT1_chr22_24598193_24633996	24611531	CTATCTAT others(17): Show CTATCTATCTATCATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01891.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0004 a0001c0009 a0002c0004	a0001c0009t0001 a0002c0004t0010 a0001c0009t0001 a0002c0004t0010	a0001c0009t0001g0005 a0002c0004t0010g0260 a0001c0009t0001g0005 a0002c0004t0010g0260	3	426	0.0070	-24	c.164 others(39): Show c.164+287_164+310delTATCTATCTATCATCTATCTATCT		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	5/15						chr22	TogoVar
GH1_chr17_63912203_63923839	63912747	ATTTTAGT others(17): Show ATTTTAGTTTCTTTCTTTCTTTCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03486.hp2 HG02723.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0037 a0001c0003t0002g0010 a0001c0003t0002g0037	2	420	0.0048	-24	c.45 others(35): Show c.4538_*4561delAAGAAAGAAAGAAAGAAACTAAAA		GH1	ENSG00000259384.7	transcript	ENST00000323322.10	protein_coding					4455		chr17	TogoVar
GH1_chr17_63912203_63923839	63912753	GTTTCTTT others(17): Show GTTTCTTTCTTTCTTTCTTTCTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00738.hp2 others(6): Show HG00140.hp2 HG00609.hp2 HG00738.hp2 HG01515.hp1 NA18969.hp1 NA18972.hp1 NA19006.hp2 NA19012.hp1 NA19079.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0014 a0007c0010 a0001c0001 a0001c0014 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0014t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0002g0003 a0001c0001t0007g0031 a0001c0014t0001g0051 a0007c0010t0001g0048	9	420	0.0214	-24	c.45 others(35): Show c.4532_*4555delGAAAGAAAGAAAGAAAGAAAGAAA		GH1	ENSG00000259384.7	transcript	ENST00000323322.10	protein_coding					4449		chr17	TogoVar
GHDC_chr17_42184087_42199494	42187582	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA19063.hp2 NA18944.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	374	0.0054	-24	c.20 others(35): Show c.2097_*2120delAAAAAAAAAAAAAAAAAAAAAAAA		GHDC	ENSG00000167925.17	transcript	ENST00000587427.6	protein_coding					1504		chr17	TogoVar
GHRHR_chr7_30958953_30984528	30960839	CTTACTGC others(17): Show CTTACTGCAGACTCCACCTCCCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	422	0.0024	-24	c.-32 others(35): Show c.-3229_-3206delTTACTGCAGACTCCACCTCCCAGG		GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding					3113		chr7	TogoVar
GHR_chr5_42418439_42726878	42579074	TATAGATA others(17): Show TATAGATAGATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02630.hp2 HG02055.hp1 HG02451.hp1 HG02630.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0006c0010 a0003c0005 a0006c0010	a0003c0005t0002 a0006c0010t0019 a0003c0005t0002 a0006c0010t0019	a0003c0005t0002g0114 a0003c0005t0002g0142 a0006c0010t0019g0132 a0003c0005t0002g0114 a0003c0005t0002g0142 a0006c0010t0019g0132	3	210	0.0143	-24	c.70+ others(41): Show c.70+13173_70+13196delAGATAGATAGATAGATAGATAGAT		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF1_chr7_100674507_100699250	100694312	ACCGCCGC others(17): Show ACCGCCGCCGCCGCCGCCGCCGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01175.hp1 HG01884.hp2 others(11): Show HG00642.hp1 HG01175.hp1 HG01884.hp2 HG02486.hp1 HG02818.hp2 HG02965.hp1 HG03471.hp1 HG03491.hp1 HG03654.hp2 HG03942.hp1 NA19001.hp1 NA19009.hp2 NA19010.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0047 a0001c0003t0006	a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0072 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0001t0004g0007 a0001c0001t0004g0085 a0001c0001t0004g0090 a0001c0001t0012g0021 a0001c0001t0012g0115 a0001c0001t0013g0102 a0001c0001t0047g0109 a0001c0003t0006g0201	14	398	0.0352	-24	c.-13 others(35): Show c.-1325_-1302delCGGCGGCGGCGGCGGCGGCGGCGG		GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding					63		chr7	TogoVar
GIGYF2_chr2_232692331_232865605	232813331	TTACGCTA others(17): Show TTACGCTATCACACCTGACTGGGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp2 others(36): Show HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02559.hp1 HG02738.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp2 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18994.hp2 NA18995.hp2 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19070.hp2 NA20805.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0009	a0001c0005 a0001c0010 a0004c0011 others(2): Show a0001c0005 a0001c0010 a0004c0011 a0008c0024 a0009c0023	a0001c0005t0001 a0001c0005t0008 a0001c0005t0022 others(4): Show a0001c0005t0001 a0001c0005t0008 a0001c0005t0022 a0001c0010t0001 a0004c0011t0001 a0008c0024t0008 a0009c0023t0001	a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0197 others(36): Show a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0197 a0001c0005t0001g0198 a0001c0005t0001g0199 a0001c0005t0001g0204 a0001c0005t0001g0208 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0213 a0001c0005t0001g0215 a0001c0005t0001g0216 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0222 a0001c0005t0001g0223 a0001c0005t0001g0225 a0001c0005t0001g0226 a0001c0005t0001g0227 a0001c0005t0001g0228 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0303 a0001c0005t0008g0201 a0001c0005t0008g0202 a0001c0005t0008g0203 a0001c0005t0008g0205 a0001c0005t0008g0232 a0001c0005t0022g0229 a0001c0010t0001g0206 a0001c0010t0001g0214 a0004c0011t0001g0207 a0004c0011t0001g0224 a0008c0024t0008g0200 a0009c0023t0001g0221	39	376	0.1037	-24	c.210 others(41): Show c.2107+860_2107+883delGGGTGTACGCTATCACACCTGACT		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	18/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836263	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp1 others(5): Show HG00140.hp1 HG00558.hp2 HG00597.hp1 HG02055.hp1 HG02074.hp2 HG02135.hp2 NA18991.hp2 NA18994.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0003 a0001c0003t0006 a0002c0001t0002 a0001c0003t0003 a0001c0003t0006 a0002c0001t0002	a0001c0003t0003g0009 a0001c0003t0003g0135 a0001c0003t0003g0153 others(5): Show a0001c0003t0003g0009 a0001c0003t0003g0135 a0001c0003t0003g0153 a0001c0003t0003g0157 a0001c0003t0003g0165 a0001c0003t0006g0146 a0001c0003t0006g0160 a0002c0001t0002g0118	8	376	0.0213	-24	c.276 others(43): Show c.2766+3214_2766+3237delTATATATATATATATATATATATA		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836307	TATATATA others(17): Show TATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02165.hp1 HG03017.hp2 others(3): Show HG00642.hp2 HG02165.hp1 HG03017.hp2 HG04199.hp2 NA18984.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0003 a0002c0001t0002 a0002c0001t0004 a0001c0003t0003 a0002c0001t0002 a0002c0001t0004	a0001c0003t0003g0136 a0001c0003t0003g0138 a0002c0001t0002g0129 others(3): Show a0001c0003t0003g0136 a0001c0003t0003g0138 a0002c0001t0002g0129 a0002c0001t0004g0040 a0002c0001t0004g0107 a0002c0001t0004g0114	6	376	0.0160	-24	c.276 others(43): Show c.2766+3224_2766+3247delTATATATATATATACATATATATA		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836326	ATATACAT others(17): Show ATATACATATATATACTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp2 HG01167.hp1 others(18): Show HG00558.hp1 HG01070.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01361.hp1 HG02015.hp2 HG02300.hp2 HG02572.hp2 HG02683.hp1 HG02735.hp2 HG02895.hp2 HG02970.hp2 NA18965.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp1 NA19030.hp1 NA19078.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0024 a0001c0002t0001 a0001c0002t0010 a0001c0002t0024	a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0240 others(18): Show a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0240 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0312 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0335 a0001c0002t0001g0356 a0001c0002t0001g0361 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0010g0333 a0001c0002t0010g0352 a0001c0002t0010g0354 a0001c0002t0024g0362	21	376	0.0559	-24	c.276 others(43): Show c.2766+3238_2766+3261delCATATATATACTTATATATTTATA		GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232847499	TCAGCAGC others(17): Show TCAGCAGCAGCAGCTGCCACAGCAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18951.hp1 NA18951.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0003 a0012c0015t0003	a0012c0015t0003g0145 a0012c0015t0003g0145	1	376	0.0027	-24	c.362 others(33): Show c.3626_3649delTGCCACAGCAGCAGCAGCAGCAGC	p.Leu others(15): Show p.Leu1209_Gln1216del	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	27/29	3797/7816	3626/3900	1209/1299		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIMAP2_chr7_150680706_150698641	150687105	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG00735.hp1 HG02451.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0059 a0002c0004t0003g0059	2	456	0.0044	-24	c.28+ others(35): Show c.28+45_28+68delGTGTGTGTGTGTGTGTGTGTGTGT		GIMAP2	ENSG00000106560.11	transcript	ENST00000223293.10	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
GINM1_chr6_149561375_149596748	149562262	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG01070.hp1 others(18): Show HG00544.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01928.hp2 HG01943.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG03927.hp2 NA18950.hp2 NA18951.hp1 NA18961.hp2 NA18977.hp1 NA19010.hp2 NA19011.hp1 NA19062.hp1 NA19068.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0024 a0001c0001t0003 a0001c0001t0004 a0001c0001t0024	a0001c0001t0003g0021 a0001c0001t0003g0199 a0001c0001t0003g0239 others(14): Show a0001c0001t0003g0021 a0001c0001t0003g0199 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0019 a0001c0001t0004g0119 a0001c0001t0004g0121 a0001c0001t0004g0125 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0171 a0001c0001t0004g0198 a0001c0001t0004g0221 a0001c0001t0004g0237 a0001c0001t0024g0232	21	380	0.0553	-24	c.-41 others(35): Show c.-4152_-4129delTATATATATATATATATATATATA		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4112		chr6	TogoVar
GINM1_chr6_149561375_149596748	149562294	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 NA19004.hp2 NA19056.hp1 HG01952.hp1 NA19004.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0120 a0001c0001t0004g0191 a0001c0001t0004g0001 a0001c0001t0004g0120 a0001c0001t0004g0191	3	380	0.0079	-24	c.-41 others(35): Show c.-4120_-4097delTATATATATATATATATATATATT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4080		chr6	TogoVar
GINM1_chr6_149561375_149596748	149562296	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	380	0.0026	-24	c.-41 others(35): Show c.-4118_-4095delTATATATATATATATATATATTTT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4078		chr6	TogoVar
GINM1_chr6_149561375_149596748	149562302	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	380	0.0026	-24	c.-41 others(35): Show c.-4112_-4089delTATATATATATATATTTTTTTTTT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4072		chr6	TogoVar
GINM1_chr6_149561375_149596748	149570136	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01978.hp2 HG02572.hp1 others(3): Show HG01069.hp1 HG01978.hp2 HG02572.hp1 HG03471.hp2 HG04228.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0002c0003t0005	a0001c0001t0001g0314 a0001c0001t0003g0142 a0001c0001t0004g0141 others(3): Show a0001c0001t0001g0314 a0001c0001t0003g0142 a0001c0001t0004g0141 a0001c0001t0007g0113 a0001c0001t0010g0052 a0002c0003t0005g0064	6	380	0.0158	-24	c.121 others(41): Show c.121-2110_121-2087delTATATATATATATATATATATATA		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
GIPC1_chr19_14472762_14501127	14485698	TATATAGA others(17): Show TATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0383 a0001c0002t0059g0383	1	444	0.0023	-24	c.-30 others(41): Show c.-30-2716_-30-2693delCTCTCTCTCTCTCTCTCTCTATAT		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8						chr19	TogoVar
GIPC1_chr19_14472762_14501127	14496052	CGCCGCCG others(17): Show CGCCGCCGCCGCCGCCGCCGCCGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0344 a0001c0001t0049g0344	1	444	0.0023	-24	c.-21 others(33): Show c.-214_-191delAGCGGCGGCGGCGGCGGCGGCGGC		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9				13077		chr19	TogoVar
GIPC3_chr19_3580478_3598541	3582078	GTGCAGAG others(17): Show GTGCAGAGATGCCATCACAGCTCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0043 a0001c0002t0025g0043	1	430	0.0023	-24	c.-35 others(35): Show c.-3519_-3496delTGCAGAGATGCCATCACAGCTCAC		GIPC3	ENSG00000179855.9	transcript	ENST00000644452.3	protein_coding					3399		chr19	TogoVar
GIPR_chr19_45663221_45688722	45671599	CTTTCTAT others(17): Show CTTTCTATTTATTTATTTGGAGACG	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19058.hp1 NA18998.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	416	0.0048	-24	c.280 others(39): Show c.280+208_280+231delTTTCTATTTATTTATTTGGAGACG		GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	4/13						chr19	TogoVar
GIT2_chr12_109924804_110001368	109939682	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG00738.hp2 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0213 a0001c0001t0012g0214 a0001c0001t0012g0213 a0001c0001t0012g0214	2	242	0.0083	-24	c.173 others(41): Show c.1732-459_1732-436delATTTATTTATTTATTTATTTATTT		GIT2	ENSG00000139436.22	transcript	ENST00000355312.8	protein_coding	16/19						chr12	TogoVar
GJA9_chr1_38869069_38886587	38882331	TATATATA others(17): Show TATATATATATATATATATATTTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(116): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18989.hp1 NA18995.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0004 a0008c0014 others(1): Show a0001c0001 a0001c0004 a0008c0014 a0009c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0013 a0008c0014t0002 a0009c0013t0001	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0013 others(26): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0096 a0001c0001t0004g0057 a0001c0001t0004g0099 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0007g0015 a0001c0001t0007g0050 a0001c0001t0007g0058 a0001c0001t0009g0044 a0001c0001t0014g0063 a0001c0001t0015g0064 a0001c0004t0002g0003 a0001c0004t0002g0053 a0001c0004t0003g0056 a0001c0004t0004g0052 a0001c0004t0013g0062 a0008c0014t0002g0065 a0009c0013t0001g0061	119	444	0.2680	-24	c.-10 others(34): Show c.-1019_-996delGTAAATATATATATATATATATAT		GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding					745		chr1	TogoVar
GJB1_chrX_71218224_71230516	71221323	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0031	-24	c.-20 others(35): Show c.-2028_-2005delTTTATTTATTTATTTATTTATTTA		GJB1	ENSG00000169562.13	transcript	ENST00000361726.7	protein_coding					1900		chrX	TogoVar
GJD2_chr15_34746032_34759998	34746223	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0019 a0001c0003t0023g0019	1	446	0.0022	-24	c.62 others(35): Show c.6231_*6254delATATATATTTTTTTTTTTTTTTTT		GJD2	ENSG00000159248.5	transcript	ENST00000290374.5	protein_coding					4808		chr15	TogoVar
GJD2_chr15_34746032_34759998	34746261	TATATATA others(17): Show TATATATATATATATATAGAGAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0027 a0001c0001t0021g0027	1	446	0.0022	-24	c.61 others(35): Show c.6193_*6216delCTCTCTCTATATATATATATATAT		GJD2	ENSG00000159248.5	transcript	ENST00000290374.5	protein_coding					4770		chr15	TogoVar
GK5_chr3_142152527_142230585	142227422	ATACATAC others(17): Show ATACATACATACATACATACATACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01081.hp1 others(18): Show HG00639.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01243.hp1 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02056.hp1 HG02165.hp1 HG02698.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp2 HG03942.hp2 HG06807.hp1 NA18947.hp1 NA18986.hp1 NA19010.hp2 NA19060.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0001t0062 a0001c0001t0072 a0001c0001t0084	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0076 others(18): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0002g0070 a0001c0001t0004g0002 a0001c0001t0004g0079 a0001c0001t0004g0084 a0001c0001t0007g0123 a0001c0001t0010g0110 a0001c0001t0011g0094 a0001c0001t0012g0120 a0001c0001t0018g0086 a0001c0001t0022g0114 a0001c0001t0030g0109 a0001c0001t0062g0083 a0001c0001t0072g0017 a0001c0001t0084g0093	21	272	0.0772	-24	c.-19 others(35): Show c.-1991_-1968delAGTATGTATGTATGTATGTATGTA		GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding					1838		chr3	TogoVar
GKAP1_chr9_83734425_83822769	83779503	ATATATGT others(17): Show ATATATGTGTATATATATACACGTG	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	336	0.0030	-24	c.585 others(39): Show c.585+855_585+878delCACGTGTATATATATACACATATA		GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12						chr9	TogoVar

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