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
C1orf159_chr1_1076823_1121089	1080649	ACCCCCAC others(249): Show ACCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCT GTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCC CCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCT CCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCAC CTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTT CCCTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0227 a0001c0005t0010g0227	1	326	0.0031	-256	c.19 others(11): Show c.1988_*2243del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1173		chr1	TogoVar
C2CD4C_chr19_400445_414147	404544	GGGGACGG others(249): Show GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCT GAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTGAGGGGTGTGGAGGGGGG ATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAG GGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGAACG GGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGG GTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0079 a0001c0001t0099g0079	1	322	0.0031	-256	c.22 others(11): Show c.2296_*2551del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		900		chr19	TogoVar
C7orf50_chr7_992006_1143247	1016101	ACACAGCA others(249): Show ACACAGCAGCGCACAGCAGCACACAGCAGCACACGCCAGCACACAGCAGC ACACGCCAGCACACAGCAGCACACAGCAGCACACGCCAGCACACAGCAGC GCACGCCAGCACACAGCAGCACACGCCAGCACACAGCAGCACACAGCAGC GCACGCCAGCACACAGCAGCGCACGCCAGCACACAGCAGTGCACGCCAGC ACATAGCAGCACAGCAGCACACAGCAGCACAGCAGCACACAGCAGCGCAC GCCAGCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	326	0.0031	-256	c.130 others(17): Show c.130-6214_130-5959del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016111	GCACAGCA others(249): Show GCACAGCAGCACACAGCAGCACACGCCAGCACACAGCAGCACACGCCAGC ACACAGCAGCACACAGCAGCACACGCCAGCACACAGCAGCGCACGCCAGC ACACAGCAGCACACGCCAGCACACAGCAGCACACAGCAGCGCACGCCAGC ACACAGCAGCGCACGCCAGCACACAGCAGTGCACGCCAGCACATAGCAGC ACAGCAGCACACAGCAGCACAGCAGCACACAGCAGCGCACGCCAGCGCAC AGCAGCA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18947.hp1 NA18984.hp1 others(4): Show NA18612.hp1 NA18947.hp1 NA18984.hp1 NA18998.hp2 NA19055.hp1 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 others(4): Show a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0195 a0001c0001t0004g0196	7	326	0.0215	-256	c.130 others(17): Show c.130-6224_130-5969del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016116	GCAGCACA others(249): Show GCAGCACACAGCAGCACACGCCAGCACACAGCAGCACACGCCAGCACACA GCAGCACACAGCAGCACACGCCAGCACACAGCAGCGCACGCCAGCACACA GCAGCACACGCCAGCACACAGCAGCACACAGCAGCGCACGCCAGCACACA GCAGCGCACGCCAGCACACAGCAGTGCACGCCAGCACATAGCAGCACAGC AGCACACAGCAGCACAGCAGCACACAGCAGCGCACGCCAGCGCACAGCAG CACACGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01433.hp1 others(7): Show HG00639.hp1 HG01243.hp2 HG01433.hp1 HG01928.hp1 HG02273.hp1 HG03491.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0128 a0001c0001t0009g0131 a0001c0001t0009g0133 others(7): Show a0001c0001t0009g0128 a0001c0001t0009g0131 a0001c0001t0009g0133 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0147 a0001c0001t0009g0148	10	326	0.0307	-256	c.130 others(17): Show c.130-6229_130-5974del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016166	GCAGCACA others(249): Show GCAGCACACAGCAGCACACGCCAGCACACAGCAGCGCACGCCAGCACACA GCAGCACACGCCAGCACACAGCAGCACACAGCAGCGCACGCCAGCACACA GCAGCGCACGCCAGCACACAGCAGTGCACGCCAGCACATAGCAGCACAGC AGCACACAGCAGCACAGCAGCACACAGCAGCGCACGCCAGCGCACAGCAG CACACGCCAGCACACAGCAGCACACGCCAGCACACAGCAGCACACAGCAG CGCACGC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02083.hp1 HG02132.hp1 others(16): Show HG01934.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp2 HG03195.hp1 HG03927.hp2 NA18944.hp2 NA18962.hp1 NA18963.hp1 NA18971.hp1 NA18972.hp1 NA18986.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19056.hp2 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0082 a0001c0001t0004g0176 a0001c0001t0004g0180 others(16): Show a0001c0001t0001g0082 a0001c0001t0004g0176 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0021g0086 a0001c0001t0028g0201	19	326	0.0583	-256	c.130 others(17): Show c.130-6279_130-6024del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004805	AGTTAGGG others(249): Show AGTTAGGGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGATTTAGGGA GGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGT TAGGGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGGG GGGAGTTAGGGAGATGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGAG TTAGGGAGGGGAGTTAGGGAGAAGGGAGTTAGGGAGAGGGGAGCTAGGGA GAGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG06807.hp2 HG01243.hp1 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0042 a0001c0002t0005g0184 a0001c0002t0005g0042 a0001c0002t0005g0184	3	394	0.0076	-256	c.-14 others(19): Show c.-147+4603_-147+4858del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CCDC66_chr3_56552175_56626837	56570671	CTGGGAGG others(249): Show CTGGGAGGCGGAGATTGCAGTGAGCTGAGATAGCGCCATTGCACTCCAGG CTGCTGACAGAATGAGACTCTATATTAAAAAAAAAAAAAGCTTACCAGCA GTTTGCTAACAGTCACGTAGCTGGGAAGTTGTTGAACTTGAATTTTAACC CATAGTTCTCTACTTCAGAATTCTAGCTTTTAATTCTCTTAATAATAATT GAATGAACATTACAGGAAACTAGAACCTCGTGATAATTGACAAAGTATAA AATAAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19006.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0001c0005 others(12): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0016 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0010c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0005t0003 a0001c0008t0002 a0001c0008t0003 a0001c0016t0001 a0001c0026t0001 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0010c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(194): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0204 a0001c0001t0002g0321 a0001c0001t0003g0130 a0001c0001t0003g0177 a0001c0001t0009g0106 a0001c0001t0009g0205 a0001c0001t0010g0124 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0095 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0333 a0001c0003t0001g0334 a0001c0003t0002g0082 a0001c0003t0002g0094 a0001c0003t0002g0102 a0001c0005t0003g0021 a0001c0005t0003g0101 a0001c0005t0003g0206 a0001c0005t0003g0207 a0001c0005t0003g0208 a0001c0005t0003g0209 a0001c0005t0003g0210 a0001c0005t0003g0211 a0001c0005t0003g0212 a0001c0005t0003g0213 a0001c0005t0003g0214 a0001c0008t0002g0318 a0001c0008t0003g0097 a0001c0008t0003g0098 a0001c0008t0003g0099 a0001c0008t0003g0100 a0001c0008t0003g0317 a0001c0008t0003g0319 a0001c0008t0003g0320 a0001c0016t0001g0019 a0001c0016t0001g0184 a0001c0026t0001g0172 a0001c0027t0001g0012 a0001c0028t0001g0065 a0001c0029t0001g0174 a0001c0030t0001g0182 a0001c0031t0001g0118 a0001c0032t0001g0215 a0001c0033t0001g0166 a0001c0034t0001g0139 a0010c0025t0001g0014	210	372	0.5645	-256	c.815 others(15): Show c.815-508_815-253del	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD4_chr12_6784528_6825799	6798217	TGGAGTGC others(249): Show TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCCACCTCTGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGATGGGG TTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCATGATCCGC CCGCCTTGGCCTCCCAAAATGCTGGGATTACACGTGTGAGGCAAGAACTT TTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00733.hp1 others(35): Show HG00140.hp1 HG00280.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02809.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0014 a0001c0001 a0001c0002 a0008c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0003 a0001c0002t0008 a0008c0014t0016	a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 others(34): Show a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0004g0007 a0001c0001t0004g0041 a0001c0001t0004g0293 a0001c0001t0012g0052 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0149 a0001c0002t0003g0272 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0280 a0001c0002t0003g0287 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0307 a0001c0002t0008g0273 a0001c0002t0008g0275 a0008c0014t0016g0264	38	442	0.0860	-256	c.-67 others(17): Show c.-67-1853_-67-1598del	CD4	ENSG00000010610.10	transcript	ENST00000011653.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
COMMD7_chr20_32697699_32748467	32700954	CCCAGCCT others(249): Show CCCAGCCTCTCAAGTGGCTGGGACAACAGACATACACCATCAAGTTCAGC AATTATTTTTTTTTTTCCCGATATGGAGTTTTGCCTGTTGCCCAGGCTGG AGTGCAGTGGTACGATATCGGCTCACTGCAACTTCTGCCTCCCAGGTTCA AGCAATTCTCCTACCTCAGACTCCTGAGTAGGTGGGATTACAGGTGCCTG CCACTACAACTGGCTAATTTTTGTATTTTTAGTAGAGATGCAGTTTCGCC ATGTTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	400	0.0025	-256	c.21 others(11): Show c.2172_*2427del	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding		1744		chr20	TogoVar
CPNE7_chr16_89570758_89602246	89587754	CACCCGCG others(249): Show CACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCG TGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	348	0.0029	-256	c.927 others(15): Show c.927+657_928-661del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587786	CGTGTCAC others(249): Show CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCAC CCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTG TCACCCG	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0299 a0001c0002t0002g0299	1	348	0.0029	-256	c.927 others(15): Show c.927+685_928-633del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CSMD1_chr8_2930361_4999914	4821906	ACATTTGC others(249): Show ACATTTGCTTGCCTGCTTCAGGTATTTTTAAATAATCTAATCGAATAAAG CTTCTCAGAGAATACTACGTAAAATAAAGTTCCTCTGTAATGCAATGACT TCTGATGTCATCACTACTATGGGAATTATTACATTCCCTCTTTCCCTTTT CTATTCTCTTCCTTTCTTTTCGGGTTCAGTAAAAAAATTACCAGAACATT CACATGCTTCCTATCTTCCCTTTTTGAAAGTTAAATGTTATAAGCCTCTG AATTTAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0016 a0002c0030t0016	a0002c0030t0016g0122 a0002c0030t0016g0122	1	126	0.0079	-256	c.85+ others(19): Show c.85+172170_85+172425del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
DACH1_chr13_71432966_71872204	71734165	ACCCCATA others(249): Show ACCCCATATATATGTATATCCCATATACGTATACCCATATATATGTATAT CCCATATACGTATACCCCATATATATGTATATCCCATATACGTATACCCC ATATATATGTATATCCCATATACGTATACCCCATATATATGTATATCCCA TATACGTATACCCCATATATATGTATATCCCATATACGTATACCCCATAT ATATGTATATCCCATATACGTATACCCCATATATATGTGTATCCCATATA CGTATAC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	1	102	0.0098	-256	c.849 others(19): Show c.849-52511_849-52256del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DGKB_chr7_14140049_14907751	14211854	TTTTACTC others(249): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTC TCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTT TTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0010	1	148	0.0068	-256	c.212 others(21): Show c.2123-33959_2123-33704del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377554	GCTCCTGG others(249): Show GCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGG GATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	384	0.0026	-256	c.215 others(17): Show c.2154+489_2154+744del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377913	CGAGGAAG others(249): Show CGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCT GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCACGAGC GCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCAAG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp2 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0197 a0001c0001t0001g0177 a0001c0001t0001g0197	2	384	0.0052	-256	c.215 others(17): Show c.2155-765_2155-510del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805789	CCCCTCAG others(249): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0042 a0003c0007t0001g0042	1	314	0.0032	-256	c.16 others(11): Show c.1624_*1879del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1503		chr2	TogoVar
GALNT13_chr2_153866922_154458979	154000067	GTTGTATT others(249): Show GTTGTATTTGTCCAGGAATTTACCCATTTCTTCTAAATTTTCCAATTCGT TGGTATATAGTTGTTCATAAGTATCTATTATAATTATGTGTATTGGTTAT AGTACCTTCTTTTTCATCTCTGATTTTATTTAGTTGAGTTTTTACTCTTT GTTTTTAGTCTAGCTAAAATTGTATCTGTTCGTATTTTCAAAAAATAACA CTGTTCATCGGTCTCTTATACGTTTTTATTTCTATCTCATTTATTTCTGC TCTGATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp1 HG02451.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0073 a0001c0001t0072 a0001c0001t0073	a0001c0001t0072g0080 a0001c0001t0073g0081 a0001c0001t0072g0080 a0001c0001t0073g0081	2	214	0.0094	-256	c.142 others(19): Show c.142+55431_142+55686del	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPATCH1_chr19_33076181_33135542	33081882	ATGATTTT others(249): Show ATGATTTTTAGAGACAGGGTTTTGCTCTGTTTCCCAGGCTGGTCTTGAAC TCCTGACTTCAAGTGATCCTCTCGCTTCTGCCTCCCAAAGTGCAGGGATT ACAGGCTTGAGCCACTGTGCTCGGCCAATTTTTAATGTTATTCTATCTTT GATGTTGAGAATACACTGGTTGGGGATGGGTAAGAGTGAAGCAGGGAGAT TAGCAAAAAGAGGTCAGGAGATGATGGTGGCATGGATGGGACAGCAGTGG TGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(69): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00735.hp1 HG00738.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG06807.hp1 NA18906.hp2 NA18939.hp2 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18988.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19060.hp2 NA19070.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0025 a0003c0023 a0002c0002 a0002c0025 a0003c0023	a0002c0002t0001 a0002c0025t0001 a0003c0023t0001 a0002c0002t0001 a0002c0025t0001 a0003c0023t0001	a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0013 others(65): Show a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0089 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0025t0001g0177 a0003c0023t0001g0222	72	380	0.1895	-256	c.73+ others(13): Show c.73+617_73+872del	GPATCH1	ENSG00000076650.7	transcript	ENST00000170564.7	protein_coding	1/19			chr19	TogoVar
HEATR6_chr17_60036008_60083921	60042810	TGGCTGTG others(249): Show TGGCTGTGAGGCACCGTCAGCATCCTCGGTCCTGTGCGGCTGTGAGGCAC CGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTC GGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGTGGC TGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGT CAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCGGT CCTGTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0211 a0002c0002t0036g0211	1	250	0.0040	-256	c.49 others(9): Show c.497_*752del	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	497		chr17	TogoVar
IBA57_chr1_228160804_228187257	228174111	GGCTGTGG others(249): Show GGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCG CTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCT GTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGT GGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGG GCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGC GTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0037 a0001c0001t0016g0037	2	416	0.0048	-256	c.342 others(15): Show c.342-436_342-181del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228174256	GCTGTGGG others(249): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGG CGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCG TGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG02922.hp1 others(3): Show HG01884.hp2 HG02723.hp1 HG02922.hp1 HG03225.hp2 HG03579.hp2 NA18940.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0001c0001t0144 a0002c0002t0003 a0001c0001t0023 a0001c0001t0144 a0002c0002t0003	a0001c0001t0023g0033 a0001c0001t0023g0059 a0001c0001t0144g0059 others(1): Show a0001c0001t0023g0033 a0001c0001t0023g0059 a0001c0001t0144g0059 a0002c0002t0003g0161	6	416	0.0144	-256	c.342 others(15): Show c.342-432_342-177del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IYD_chr6_150364012_150410969	150372507	GGGGTGGG others(249): Show GGGGTGGGGTGGGGAGTGCTGAGGGGTCATGTTGTGTCCATGCTTATTAG ACATGTGTGTGTGTGGGCGGTGTGGGGGGTGGTGAGGGAACATTGTGTTG GTCCATGCTTGTTAGACATGTGTGTGTATGGGTGGGGTGGGGGTGGTGAG GGAACATTGTGTGTCCATGCTTATTAGACATGTGTGTGTGGGGGTGTGTT GGGGGTGGTGAGGGAACATTGTGTGACCATGCTTGTTATACATGTGTATG TGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03453.hp1 HG03579.hp2 HG01243.hp1 HG03453.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0097 a0002c0002t0042 a0002c0002t0097	a0002c0002t0042g0072 a0002c0002t0042g0073 a0002c0002t0097g0255 a0002c0002t0042g0072 a0002c0002t0042g0073 a0002c0002t0097g0255	3	414	0.0073	-256	c.178 others(17): Show c.178+3312_178+3567del	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
KNDC1_chr10_133155219_133231412	133220466	TGAGGAGG others(249): Show TGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCG GCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGTGAG GAGGGGCTCAGGCGGGCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGGCCA CGCGCCCAGGTGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGAGAGGAGG GGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGGCGCGCG CCCAGGA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0249 a0003c0011t0001g0249	1	332	0.0030	-256	c.501 others(17): Show c.5018+418_5018+673del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRFN5_chr14_41601876_41909549	41673935	TGGGCGGG others(249): Show TGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGCCG GGCGGAGACGCTGCTCACTTCCCAGACGCGGTGGCTGCCGGGCAGAGAGG CTCCTCACTTCTCAGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCC	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19005.hp1 NA19000.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0064 a0001c0001t0001g0066	2	280	0.0071	-256	c.-19 others(21): Show c.-197+65389_-197+65644del	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
MAD1L1_chr7_1810795_2237945	1845422	ACTCTGGT others(249): Show ACTCTGGTTCACGGGGAAGAGCGCTGTTTAGGAGATGGACGTGCTCCACG CAGAGACGCGTCGGGCTCTGATTCATGGGGAAGAGCTCTGTTTAGGAGAT GGACGTGCTCCACGCAGACACGCGTCCGGCTCTGGTTCACGGGGAAGAGC GCTGTTTAGGAGACGGACGTGCTCCACGCAGACATGCGTCCGGCTCTGGT TCACGGGGAAGAGCGCTGTTTAGGAGACGGACGTGCTCCACGCAGACACG CGTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01515.hp1 others(3): Show HG00280.hp1 HG01074.hp1 HG01515.hp1 HG01517.hp1 HG04199.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0112 a0001c0001t0002g0129 a0001c0001t0002g0130 others(3): Show a0001c0001t0002g0112 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0175 a0001c0001t0002g0239 a0001c0003t0002g0083	6	264	0.0227	-256	c.199 others(21): Show c.1999-29450_1999-29195del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19452125	GAAGAGAA others(249): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAG AGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0021 a0002c0002t0015g0021	1	163	0.0061	-256	c.995 others(17): Show c.995+4532_995+4787del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163894652	CATATATA others(249): Show CATATATATGCATGTGATGCATATATATGCATGTGATGCATATATATATG CATGTGATGCATATATATATGCATGTGATGCATATATATATGCATGTGAT GCATATATATACATGCATGTGATGCATATATATACATGCATGTGATGCAT ATATATACATGCATGTGATGCATATATATATGCATGTGATGCATATATAT ATGCATGTGATGCATATATATATGCATGTGATGCATATATATATGCATGT GATGCAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	102	0.0098	-256	c.-38 others(19): Show c.-38-40739_-38-40484del	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7053651	TTATAATA others(249): Show TTATAATATAATTTATATATTATATACTTACATATATTATATATTAAAAT ATAATTTATATATTATGTAATTATATATTATATATTATAATTATATTTAT ATATCATATTTATATAATTATATAATATAATTGTATAATATATACTATAT AGGTATATTATATAATTATATATAATTATATATATTATAATTATATAATA TAATATATATTATATTATATAATATATAATTATACATAACTGTATTAAAT ATAATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	288	0.0035	-256	c.24 others(11): Show c.2415_*2670del	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2555		chr19	TogoVar
NEU4_chr2_241804193_241822413	241805789	CCCCTCAG others(249): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGG ACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	319	0.0031	-256	c.-34 others(11): Show c.-3488_-3233del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3403		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149972	CACACCAC others(249): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	294	0.0034	-256	c.902 others(16): Show c.902-1008_902-753del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NXN_chr17_794310_984776	952442	GGTCAGAC others(249): Show GGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAC AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	242	0.0041	-256	c.360 others(19): Show c.360+26621_360+26876del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAQR5_chr15_69293912_69412780	69300585	CTTTCCTT others(249): Show CTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCC TCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTC TCTTTCTTTCTTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTT AGTTCGT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03195.hp1 HG02135.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0261 a0001c0003t0003g0262 a0001c0001t0001g0261 a0001c0003t0003g0262	2	284	0.0070	-256	c.-27 others(19): Show c.-277+1534_-277+1789del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300644	TCTTTCTT others(249): Show TCTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCT CTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTCTTT CTTTCTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTAGTTCGTTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01167.hp2 HG02155.hp1 HG00438.hp1 HG01167.hp2 HG02155.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0002 a0001c0003t0003 a0002c0002t0002	a0001c0003t0003g0264 a0001c0003t0003g0265 a0002c0002t0002g0266 a0001c0003t0003g0264 a0001c0003t0003g0265 a0002c0002t0002g0266	3	284	0.0106	-256	c.-27 others(19): Show c.-277+1592_-277+1847del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300648	TCTTTTCT others(249): Show TCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCT CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTT CTTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTTAGTTCGTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18995.hp2 HG01943.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0270 a0001c0003t0003g0271 a0001c0001t0001g0270 a0001c0003t0003g0271	2	284	0.0070	-256	c.-27 others(19): Show c.-277+1596_-277+1851del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PLD5_chr1_242077986_242529697	242393430	GTATATAT others(249): Show GTATATATATGAGTATATATATGTGTATATATATGAGTATATATATGTGT ATATATGAGTATATATATGTGTATATATGAGTATATATATATGTGTATAT ATGTGAGTATATATATGTGTATATATATGAGTATATATGTGTATATATAT GAGTATACATATGTGTATATATATGAGCATATATGTGTATATATATGAGT ATATATATGTGTATATATATGAGTATATATGTGTATATATATGAGTATAT ATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19066.hp1 HG03688.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0005 a0001c0002t0003g0147 a0001c0001t0002g0005 a0001c0002t0003g0147	2	188	0.0106	-256	c.190 others(19): Show c.190-45444_190-45189del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PPP2R2B_chr5_146575742_146883757	146686876	CTAAGGGT others(249): Show CTAAGGGTCTGTTACTCCTGGGCAGCGGGAGGTTGGGGAAGAAGGGCATG GAGGGTCTTCTGAAGTAAAACTGCATAGGGACCTCAAGGCCTTTGTTTCT CCATTGCTGAGGTCAGAGATCTGGAAAGTCAATGTGTAAGTGTGTGTGTA TGTGTGTGTGTGTGTGGCAGGGACAGTGGTAGCGGGGAGTGGTGGGGGGA GGGAGAGAGAGGGAGAGGAAGAGAGGGAGAGGGAGAGAGAGGGAGCGATT GATCGAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0167 a0001c0001t0014g0169 a0001c0001t0014g0167 a0001c0001t0014g0169	2	170	0.0118	-256	c.447 others(17): Show c.447+3996_447+4251del	PPP2R2B	ENSG00000156475.19	transcript	ENST00000394411.9	protein_coding	5/9			chr5	TogoVar
PTDSS1_chr8_96256902_96341995	96310012	AATTAGCT others(249): Show AATTAGCTGGTTGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCT GAGGTTTCAGTGAGCCAAAGTCACGCCACTGCACTGCACTCCAGCCTGGG CGATAGAGTGAGACTCCATGTTAAAAAACAAACAGACAAAAAGAAATGGA TCTCTCTCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCAGGC TGGAGGGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGC TCAAGTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	262	0.0038	-256	c.107 others(17): Show c.1073+394_1073+649del	PTDSS1	ENSG00000156471.13	transcript	ENST00000517309.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPRH_chr19_55176247_55214501	55207697	CTCCTGGG others(249): Show CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAG GGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTG GGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCT CTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGA GGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGG TCTGGAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG03130.hp2 others(3): Show HG02622.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 NA19043.hp1	a0006 a0007 a0010 others(2): Show a0006 a0007 a0010 a0013 a0038	a0006c0060 a0007c0011 a0010c0062 others(2): Show a0006c0060 a0007c0011 a0010c0062 a0013c0034 a0038c0084	a0006c0060t0001 a0007c0011t0001 a0010c0062t0001 others(2): Show a0006c0060t0001 a0007c0011t0001 a0010c0062t0001 a0013c0034t0001 a0038c0084t0001	a0006c0060t0001g0119 a0007c0011t0001g0018 a0010c0062t0001g0117 others(2): Show a0006c0060t0001g0119 a0007c0011t0001g0018 a0010c0062t0001g0117 a0013c0034t0001g0118 a0038c0084t0001g0120	6	378	0.0159	-256	c.52- others(13): Show c.52-754_52-499del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208679	CCTGGACT others(249): Show CCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGCCTGAAGGAGGAG GGACTGGGGGTCTGGACCCCTGAGTCTGAGGGAAGAGGGGCTGGGGGTCT GGACTCCTGAGTCTGAGGGAGGAGGGGTTGGGGGCCTGGACTCTTGGTTT GAGGGAGGAAGGGCTGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGG CTGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02572.hp1 others(7): Show HG02145.hp2 HG02559.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp1 HG02970.hp2 HG03471.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0014 a0002c0002 a0002c0013 others(5): Show a0001c0014 a0002c0002 a0002c0013 a0002c0036 a0003c0039 a0004c0079 a0004c0107 a0017c0031	a0001c0014t0001 a0002c0002t0002 a0002c0013t0001 others(5): Show a0001c0014t0001 a0002c0002t0002 a0002c0013t0001 a0002c0036t0002 a0003c0039t0003 a0004c0079t0003 a0004c0107t0001 a0017c0031t0001	a0001c0014t0001g0315 a0002c0002t0002g0310 a0002c0013t0001g0030 others(5): Show a0001c0014t0001g0315 a0002c0002t0002g0310 a0002c0013t0001g0030 a0002c0036t0002g0314 a0003c0039t0003g0029 a0004c0079t0003g0313 a0004c0107t0001g0311 a0017c0031t0001g0312	10	378	0.0265	-256	c.51+ others(13): Show c.51+448_51+703del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130574928	TGATGCCC others(249): Show TGATGCCCTGTGCCAAGTCCTCCAGAATCACACCCCCCACCGCCACCCCC ACCCCCAGACGCCCTGTGCCAAGTCCTCCAGAATCACACCCCCCACCCCC ACCCCCAGACGCCCTGTGCCAAGTCCTCCAGAATCACATCCCCCAACCCC ACCCCCAGACGCCCTGTGCCAAGTCCTCCAGAATCACACCCCCCACCCCC ACCCCCAGACGCCCTGTGCCAAGTCCTCCAGAATCACACCCCCCAACCCC ACCCCCA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp2 HG02109.hp1 others(5): Show HG01074.hp2 HG01891.hp2 HG02109.hp1 HG02886.hp2 HG03130.hp1 HG03486.hp2 HG06807.hp1 NA19030.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0022 a0001c0044 a0002c0009 a0002c0023 a0016c0031	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0022t0001 a0001c0044t0001 a0002c0009t0001 a0002c0023t0001 a0016c0031t0002	a0001c0001t0001g0127 a0001c0003t0001g0058 a0001c0005t0001g0129 others(5): Show a0001c0001t0001g0127 a0001c0003t0001g0058 a0001c0005t0001g0129 a0001c0022t0001g0101 a0001c0044t0001g0067 a0002c0009t0001g0128 a0002c0023t0001g0016 a0016c0031t0002g0097	8	180	0.0444	-256	c.-21 others(21): Show c.-217+53138_-217+53393del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1288264	TCTGCTCC others(249): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0082 a0002c0003t0002g0082	1	290	0.0035	-256	c.166 others(17): Show c.1662+240_1662+495del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444670	TACACATA others(249): Show TACACATATATACGTACGAATATATATACACATATATACGTACGAATATA TATACACATATATACGTACGAATATATATACACATATATACGTACGAATA TATATACACATATATACGTACGAATATATATACACATATATTCGTACGAA TATATATACACATATATTCGTACGAATATATATACACATATATTCGTACG AATATATATACACATATATTCGTACGAATATATATACATATATTCGTACG AATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02630.hp2 others(7): Show HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03130.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0002t0009 a0001c0001t0001 a0001c0002t0005 a0001c0002t0009	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0124 others(7): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0163 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0269 a0001c0002t0005g0097 a0001c0002t0005g0098 a0001c0002t0009g0276	10	290	0.0345	-256	c.114 others(19): Show c.1140+1833_1140+2088del	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SDHA_chr5_213320_262082	259245	CGTCACAG others(249): Show CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTG TGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCC AGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAG CATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCC GCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01175.hp1 NA18942.hp2 others(5): Show HG01167.hp2 HG01175.hp1 NA18942.hp2 NA18960.hp2 NA18982.hp2 NA18989.hp2 NA19010.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0037 others(4): Show a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0062 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0005g0001	8	266	0.0301	-256	c.28 others(11): Show c.2826_*3081del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2164		chr5	TogoVar
SDHA_chr5_213320_262082	260337	GAGCATTA others(249): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	266	0.0038	-256	c.39 others(11): Show c.3918_*4173del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3256		chr5	TogoVar
SDHA_chr5_213320_262082	260689	GAGCATTA others(249): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGC ATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTA CCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCC CCGCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	266	0.0038	-256	c.42 others(11): Show c.4270_*4525del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3608		chr5	TogoVar
SKA1_chr18_50370046_50399168	50384648	TAGAACAA others(249): Show TAGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA GAGTATAATAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAGGAAAAA AAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp1 HG01884.hp2 others(48): Show HG00597.hp2 HG01243.hp1 HG01884.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19006.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19084.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0003c0006 a0001c0004 a0003c0003 a0003c0006	a0001c0004t0006 a0001c0004t0017 a0001c0004t0020 others(6): Show a0001c0004t0006 a0001c0004t0017 a0001c0004t0020 a0001c0004t0026 a0003c0003t0004 a0003c0003t0009 a0003c0003t0027 a0003c0003t0028 a0003c0006t0022	a0001c0004t0006g0010 a0001c0004t0006g0030 a0001c0004t0006g0044 others(22): Show a0001c0004t0006g0010 a0001c0004t0006g0030 a0001c0004t0006g0044 a0001c0004t0006g0096 a0001c0004t0006g0149 a0001c0004t0006g0154 a0001c0004t0017g0010 a0001c0004t0017g0097 a0001c0004t0020g0098 a0001c0004t0026g0010 a0003c0003t0004g0005 a0003c0003t0004g0008 a0003c0003t0004g0022 a0003c0003t0004g0038 a0003c0003t0004g0039 a0003c0003t0004g0077 a0003c0003t0004g0078 a0003c0003t0004g0082 a0003c0003t0004g0083 a0003c0003t0004g0084 a0003c0003t0009g0024 a0003c0003t0009g0100 a0003c0003t0027g0022 a0003c0003t0028g0005 a0003c0006t0022g0081	51	387	0.1318	-256	c.312 others(15): Show c.312-566_312-311del	SKA1	ENSG00000154839.10	transcript	ENST00000285116.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMOC2_chr6_168436184_168672992	168614374	GGCCTCTT others(249): Show GGCCTCTTCATACCTACAGCCAGCACAGGGCCTCTTTATACCTACAGCCA GCACAGGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACACC TACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTT CACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACAGGG GGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGC CAGCACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp2 others(34): Show HG00099.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG01243.hp2 HG01261.hp2 HG01516.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02559.hp1 HG02602.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp1 HG03492.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18963.hp1 NA19000.hp1 NA19091.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0003t0001 a0001c0004t0005 a0001c0013t0002	a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0108 others(34): Show a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0003g0149 a0001c0001t0004g0122 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0066 a0001c0003t0001g0155 a0001c0004t0005g0048 a0001c0013t0002g0033	37	180	0.2056	-256	c.907 others(17): Show c.907+6137_907+6392del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
THEG_chr19_356747_381026	360141	CGACTCCG others(249): Show CGACTCCGACGGTCCCGTGGGCTCTCAGCAGGAGCGTCGGCTGGTTTGAC CGTGGCTGTCGTTCTGACTCTGATGGTCCCGTGGCCCCTCAGCAGGAGCG TCGGCTGCTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCC CCTCAGCAGGAGCGTCGGCTGCTTTGACCGTGGCTGTCGTTCCGACTCCG ACGGTCCCGTGGGCTCTCAGCAGGAGCGTCGGCTGGTTTGACCGTGGCTG TCGTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02451.hp1 others(11): Show HG01243.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG03041.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp2 NA20129.hp2	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0009 a0017	a0001c0001 a0001c0003 a0004c0020 others(3): Show a0001c0001 a0001c0003 a0004c0020 a0006c0006 a0009c0011 a0017c0031	a0001c0001t0005 a0001c0001t0022 a0001c0003t0005 others(4): Show a0001c0001t0005 a0001c0001t0022 a0001c0003t0005 a0004c0020t0033 a0006c0006t0007 a0009c0011t0042 a0017c0031t0007	a0001c0001t0005g0045 a0001c0001t0005g0076 a0001c0001t0005g0093 others(10): Show a0001c0001t0005g0045 a0001c0001t0005g0076 a0001c0001t0005g0093 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0102 a0001c0001t0022g0008 a0001c0003t0005g0023 a0004c0020t0033g0021 a0006c0006t0007g0168 a0009c0011t0042g0116 a0017c0031t0007g0316	14	370	0.0378	-256	c.18 others(11): Show c.1803_*2058del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1605		chr19	TogoVar

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