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
VPS53_chr17_503668_719839	505915	CGGTTGAG others(253): Show CGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCCTCAAGA GCGGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCAT TGGTGACCTTCGAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGAC TTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAGGACAGCGGTT GAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGG GTCAGGACGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00621.hp1 others(19): Show HG00323.hp2 HG00423.hp1 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG02129.hp1 HG02132.hp1 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02922.hp1 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18946.hp1 NA18955.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA19066.hp2 NA19090.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0015 a0002c0003 others(3): Show a0001c0001 a0001c0015 a0002c0003 a0004c0008 a0005c0009 a0007c0013	a0001c0001t0032 a0001c0015t0126 a0002c0003t0018 others(15): Show a0001c0001t0032 a0001c0015t0126 a0002c0003t0018 a0002c0003t0036 a0002c0003t0037 a0002c0003t0131 a0002c0003t0136 a0002c0003t0139 a0002c0003t0140 a0002c0003t0144 a0002c0003t0145 a0002c0003t0146 a0002c0003t0148 a0004c0008t0036 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147 a0007c0013t0132	a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0015t0126g0149 others(19): Show a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0015t0126g0149 a0002c0003t0018g0172 a0002c0003t0018g0214 a0002c0003t0018g0231 a0002c0003t0036g0176 a0002c0003t0037g0115 a0002c0003t0037g0168 a0002c0003t0131g0193 a0002c0003t0136g0216 a0002c0003t0139g0167 a0002c0003t0140g0194 a0002c0003t0144g0215 a0002c0003t0145g0187 a0002c0003t0146g0170 a0002c0003t0148g0174 a0004c0008t0036g0207 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177 a0007c0013t0132g0163	22	232	0.0948	-260	c.12 others(13): Show c.12953_*13212del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2752		chr17	TogoVar
VPS53_chr17_503668_719839	506393	CTAGAAGA others(253): Show CTAGAAGAGCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAG ATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCCTCAAGAGCGGGGTC AGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGGTGACC TTCAAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGA AGAGCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAGATGGA AGCTGACTTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00621.hp1 others(19): Show HG00323.hp2 HG00423.hp1 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG02129.hp1 HG02132.hp1 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02922.hp1 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18946.hp1 NA18955.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA19066.hp2 NA19090.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0015 a0002c0003 others(3): Show a0001c0001 a0001c0015 a0002c0003 a0004c0008 a0005c0009 a0007c0013	a0001c0001t0032 a0001c0015t0126 a0002c0003t0018 others(15): Show a0001c0001t0032 a0001c0015t0126 a0002c0003t0018 a0002c0003t0036 a0002c0003t0037 a0002c0003t0131 a0002c0003t0136 a0002c0003t0139 a0002c0003t0140 a0002c0003t0144 a0002c0003t0145 a0002c0003t0146 a0002c0003t0148 a0004c0008t0036 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147 a0007c0013t0132	a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0015t0126g0149 others(19): Show a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0015t0126g0149 a0002c0003t0018g0172 a0002c0003t0018g0214 a0002c0003t0018g0231 a0002c0003t0036g0176 a0002c0003t0037g0115 a0002c0003t0037g0168 a0002c0003t0131g0193 a0002c0003t0136g0216 a0002c0003t0139g0167 a0002c0003t0140g0194 a0002c0003t0144g0215 a0002c0003t0145g0187 a0002c0003t0146g0170 a0002c0003t0148g0174 a0004c0008t0036g0207 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177 a0007c0013t0132g0163	22	232	0.0948	-260	c.12 others(13): Show c.12475_*12734del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		2274		chr17	TogoVar
VPS53_chr17_503668_719839	552868	CGCTGCTG others(253): Show CGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGCGAGCAAGTGTGTACAAGG TATATACGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAG CAAGCGTGTACAAGGTATATACGTGCCGCACGCTGCTGTGTAGTGGAGAA AGGGCAGGCAGTGAGCAAGCGTGTACAAGGTATATACGTGCCACATGCTG CTGTGTAGTGGAGAAAGGGCAGGCAGCGAGCAAGTGTGTACAAGGTATAT ACGTGCCACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp1 HG01109.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0105 a0001c0001t0087 a0001c0001t0105	a0001c0001t0087g0198 a0001c0001t0105g0201 a0001c0001t0087g0198 a0001c0001t0105g0201	2	232	0.0086	-260	c.178 others(17): Show c.1787+252_1787+511del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	16/21			chr17	TogoVar
VPS53_chr17_503668_719839	552907	TGTGTACA others(253): Show TGTGTACAAGGTATATACGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGG CAGGCAGTGAGCAAGCGTGTACAAGGTATATACGTGCCGCACGCTGCTGT GTAGTGGAGAAAGGGCAGGCAGTGAGCAAGCGTGTACAAGGTATATACGT GCCACATGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGCGAGCAAGTGTGT ACAAGGTATATACGTGCCACATGCTGCTGTGTAGTGGAGAAAGGGCAGGC AGTGAGCAAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0002c0003 a0003c0004 a0004c0008 a0007c0013	a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 others(115): Show a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0088 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0102 a0001c0001t0106 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0118 a0001c0001t0122 a0001c0001t0123 a0001c0001t0127 a0001c0001t0134 a0001c0001t0138 a0001c0001t0141 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0035 a0001c0002t0038 a0001c0002t0043 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0055 a0001c0002t0058 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0072 a0001c0002t0075 a0001c0002t0076 a0001c0002t0077 a0001c0002t0078 a0001c0002t0079 a0001c0002t0082 a0001c0002t0083 a0001c0002t0086 a0001c0002t0100 a0001c0002t0109 a0001c0002t0125 a0001c0002t0143 a0001c0002t0149 a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 a0001c0005t0042 a0001c0005t0044 a0001c0005t0045 a0001c0005t0046 a0001c0005t0080 a0001c0006t0001 a0001c0006t0021 a0001c0006t0039 a0001c0006t0040 a0001c0006t0041 a0001c0006t0053 a0001c0006t0057 a0001c0006t0068 a0001c0011t0051 a0001c0014t0135 a0001c0015t0126 a0001c0016t0052 a0002c0003t0008 a0002c0003t0009 a0002c0003t0018 a0002c0003t0027 a0002c0003t0073 a0002c0003t0085 a0002c0003t0090 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0099 a0002c0003t0104 a0002c0003t0145 a0002c0003t0150 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0006 a0003c0004t0022 a0003c0004t0025 a0003c0004t0047 a0003c0004t0054 a0003c0004t0056 a0003c0004t0059 a0003c0004t0060 a0003c0004t0061 a0003c0004t0063 a0003c0004t0064 a0003c0004t0071 a0003c0004t0081 a0004c0008t0035 a0004c0008t0103 a0004c0008t0124 a0004c0008t0133 a0004c0008t0142 a0007c0013t0132	a0001c0001t0017g0158 a0001c0001t0028g0196 a0001c0001t0028g0197 others(164): Show a0001c0001t0017g0158 a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0031g0153 a0001c0001t0031g0155 a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0034g0162 a0001c0001t0088g0152 a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0097g0199 a0001c0001t0098g0147 a0001c0001t0101g0200 a0001c0001t0102g0220 a0001c0001t0106g0117 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0113g0122 a0001c0001t0118g0195 a0001c0001t0122g0160 a0001c0001t0123g0123 a0001c0001t0127g0159 a0001c0001t0134g0154 a0001c0001t0138g0161 a0001c0001t0141g0165 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0072 a0001c0002t0005g0061 a0001c0002t0005g0065 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0010g0057 a0001c0002t0010g0087 a0001c0002t0013g0078 a0001c0002t0013g0083 a0001c0002t0014g0055 a0001c0002t0014g0074 a0001c0002t0014g0077 a0001c0002t0022g0085 a0001c0002t0024g0073 a0001c0002t0024g0088 a0001c0002t0025g0075 a0001c0002t0026g0059 a0001c0002t0026g0060 a0001c0002t0035g0219 a0001c0002t0038g0224 a0001c0002t0043g0064 a0001c0002t0048g0089 a0001c0002t0049g0048 a0001c0002t0050g0049 a0001c0002t0055g0084 a0001c0002t0058g0052 a0001c0002t0065g0093 a0001c0002t0066g0070 a0001c0002t0067g0076 a0001c0002t0072g0071 a0001c0002t0075g0051 a0001c0002t0076g0050 a0001c0002t0077g0095 a0001c0002t0078g0041 a0001c0002t0079g0086 a0001c0002t0082g0069 a0001c0002t0083g0067 a0001c0002t0086g0221 a0001c0002t0100g0223 a0001c0002t0109g0222 a0001c0002t0125g0116 a0001c0002t0143g0226 a0001c0002t0149g0202 a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 a0001c0005t0020g0005 a0001c0005t0020g0010 a0001c0005t0042g0044 a0001c0005t0044g0096 a0001c0005t0045g0009 a0001c0005t0046g0011 a0001c0005t0080g0092 a0001c0006t0001g0113 a0001c0006t0021g0100 a0001c0006t0021g0101 a0001c0006t0039g0003 a0001c0006t0040g0002 a0001c0006t0041g0001 a0001c0006t0053g0102 a0001c0006t0057g0103 a0001c0006t0068g0098 a0001c0011t0051g0091 a0001c0014t0135g0166 a0001c0015t0126g0149 a0001c0016t0052g0099 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0018g0231 a0002c0003t0027g0169 a0002c0003t0027g0181 a0002c0003t0073g0068 a0002c0003t0085g0184 a0002c0003t0090g0171 a0002c0003t0091g0209 a0002c0003t0092g0190 a0002c0003t0093g0173 a0002c0003t0099g0192 a0002c0003t0104g0208 a0002c0003t0145g0187 a0002c0003t0150g0191 a0003c0004t0003g0015 a0003c0004t0003g0018 a0003c0004t0003g0036 a0003c0004t0003g0043 a0003c0004t0004g0014 a0003c0004t0004g0019 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0040 a0003c0004t0005g0027 a0003c0004t0005g0028 a0003c0004t0005g0030 a0003c0004t0006g0016 a0003c0004t0006g0022 a0003c0004t0006g0023 a0003c0004t0006g0024 a0003c0004t0006g0033 a0003c0004t0022g0004 a0003c0004t0025g0038 a0003c0004t0047g0017 a0003c0004t0054g0032 a0003c0004t0056g0020 a0003c0004t0059g0029 a0003c0004t0060g0039 a0003c0004t0061g0031 a0003c0004t0063g0034 a0003c0004t0064g0042 a0003c0004t0071g0037 a0003c0004t0081g0035 a0004c0008t0035g0203 a0004c0008t0103g0227 a0004c0008t0124g0229 a0004c0008t0133g0232 a0004c0008t0142g0228 a0007c0013t0132g0163	167	232	0.7198	-260	c.178 others(17): Show c.1787+213_1787+472del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	16/21			chr17	TogoVar
ACSBG2_chr19_6130667_6198091	6152292	TTTTTTTT others(252): Show TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0133 a0003c0005t0001g0133	1	262	0.0038	-259	c.386 others(15): Show c.386+507_386+765del	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAM9_chr8_38991973_39110261	39096100	TAATAGTT others(252): Show TAATAGTTGTACATATCACATGGGGTACATGTGATATTTTGAAACAAGCA TATAGTGTGTAATGATCAAATCAGGGTAATTGGGATAGTCATCACCTCAA GGATTTATCATTTCTATGTTAGGAACATTCCAACTCTACTCTTTTAGCTA TTTTGAAATATACAATAAATTAATCATTTTCTTTGTTTTTTTGTAGTAAT ATTTTGATTCTCATTTTCCTTTGTGCATATTCTATAGCACATATATTGTG ATATCTTTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01070.hp2 others(25): Show HG00099.hp1 HG00280.hp1 HG01070.hp2 HG01106.hp1 HG01952.hp1 HG02056.hp2 HG02083.hp2 HG02132.hp1 HG02523.hp2 HG02738.hp2 HG03492.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18963.hp1 NA18966.hp1 NA18987.hp1 NA18988.hp1 NA18992.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0186 a0001c0001t0001g0205 others(25): Show a0001c0001t0001g0124 a0001c0001t0001g0186 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0259 a0001c0001t0001g0281 a0001c0001t0001g0327	28	332	0.0843	-259	c.229 others(19): Show c.2298+4758_2298+5016del	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAP1_chr7_892900_959680	943224	GAGGAGGA others(252): Show GAGGAGGAGGAAGGGAGAGAGGAGGAGGAAGGGAGAGGAGGAGGAAGGGA GAGAGGAGGAGGAAGGGAGAGAGGAGGACGAAGGGAGAGAGGAGGAGGAA GGGAGAGAGGAGGAGGAAGGGAGGAGGAGGAAGAGGAGGAAGGGAGAGAG GATGAGGAAGGGAGAGAGGAGGAGGAAGGGAGTGAGGAGGAAGGGAATGA GGAGGAGGAAGAGAGGAGGAGGAAGGGAGCGAGGAGGAAGGGAGAGAGGA GGAAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	14	0.0714	-259	c.83- others(15): Show c.83-7978_83-7720del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1238687	CTGCCTCC others(252): Show CTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCG ATACTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0018	1	106	0.0094	-259	c.136 others(19): Show c.1361+3185_1361+3443del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
APCDD1_chr18_10449635_10494949	10462407	TTTCCTTC others(252): Show TTTCCTTCCTTCCTTCCTTTCCCCCTTGCTCCCTCTCTCCTTTCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTCCCTTCCTTCCTTCCTG TGACCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0262 a0001c0002t0041g0262	1	422	0.0024	-259	c.59- others(15): Show c.59-6043_59-5785del	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASB5_chr4_176208673_176274222	176218533	AATATATA others(252): Show AATATATATATTTGTATGATATATATATTTGTATGATATATAAATATATA TATTTGTATGATATATAAATATATATGTATGATATATAAATATATATTTG TATGATATATAAATATATATATTTGTATGATATATAAATATATATATATT TGTATGATATATAAATATATATATATTTGTATGATATATACATTTGTATG ATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTATG ATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01175.hp2 others(12): Show HG00735.hp2 HG01070.hp2 HG01175.hp2 HG01192.hp1 HG01358.hp1 HG02056.hp1 HG02683.hp2 HG03710.hp2 NA18939.hp2 NA18953.hp1 NA18977.hp2 NA19060.hp1 NA19078.hp1 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0053 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0369 a0001c0001t0005g0108 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0008g0101 a0001c0001t0009g0125 a0001c0001t0015g0112	15	410	0.0366	-259	c.671 others(17): Show c.671-1783_671-1525del	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(252): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0189 a0002c0001t0029g0189	1	248	0.0040	-259	c.226 others(19): Show c.2267+4773_2268-4745del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(252): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03710.hp1 HG00642.hp1 HG03710.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0008 a0003c0006t0002 a0003c0006t0008	a0003c0006t0002g0152 a0003c0006t0008g0145 a0003c0006t0002g0152 a0003c0006t0008g0145	2	248	0.0081	-259	c.226 others(19): Show c.2268-3664_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDH4_chr20_61247261_61945617	61675513	TAGGGGCT others(252): Show TAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACTCCCGTGGAAACAACCAT CGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACTCCCGTGGAAACAACC ATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACTCCCGTGGAAACAA CCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACTCCCGTGGAAAC AACCATCGTAGGGCTGAGGCTTTGGGCTCAGCCAAGCACTCCCGTGGAAA CAACCATCGC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	106	0.0094	-259	c.170 others(19): Show c.170-67998_170-67740del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK12_chr17_39456486_39539544	39498949	TTCTTTCT others(252): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	260	0.0039	-259	c.242 others(19): Show c.2420-2299_2420-2041del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COL18A1_chr21_45400165_45518720	45501825	CTCCACAG others(252): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC ACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCC CTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGA CCCCCAGGGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18953.hp1 NA18966.hp2 others(3): Show HG02071.hp2 NA18953.hp1 NA18966.hp2 NA19057.hp1 NA19065.hp2 NA19074.hp1	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0001c0004 a0005c0058 others(1): Show a0001c0001 a0001c0004 a0005c0058 a0010c0014	a0001c0001t0001 a0001c0004t0001 a0005c0058t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0005c0058t0001 a0010c0014t0001	a0001c0001t0001g0175 a0001c0004t0001g0222 a0005c0058t0001g0165 others(3): Show a0001c0001t0001g0175 a0001c0004t0001g0222 a0005c0058t0001g0165 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279	6	292	0.0206	-259	c.268 others(19): Show c.2684-2185_2684-1927del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
CST8_chr20_23486117_23501010	23490150	ATATATAT others(252): Show ATATATATATTAATTATATATAATATATATATAAATTATATATATATTAA TTATATATAATATATATATAAATTATATATATATTAATTATATATATAAT ATATATATAAATTATATATATATTAATTATATATATATAAAATATATATA ATTTATATATATAAAATATATATAATTTATATATATAAATTATATATAAA ATATATATAATTTATATATATAAATTATATATAAAATATATATAATTTAT ATATAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02486.hp1 others(9): Show HG00741.hp2 HG01243.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0002g0024 a0001c0001t0003g0009 others(2): Show a0001c0001t0001g0003 a0001c0001t0002g0024 a0001c0001t0003g0009 a0001c0002t0002g0012 a0001c0002t0002g0039	12	440	0.0273	-259	c.-13 others(11): Show c.-1335_-1077del	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		966		chr20	TogoVar
CTSS_chr1_150725188_150770778	150744031	ATTATATA others(252): Show ATTATATATTATATGTATATTATGTATACATAATATTTATATATTATATG TATATTATGTATACATAATATATTATATATTATATGTATATTATGTATAC ATAATATGTACACATAATATTTATATATTATATGTATATTATGTATACAT AATATTTATATATTATATGTATATTATGTATACATAATATTTATATATTA TATGTATATTATGTATACATAATATTTATATATTATATGTATATTATGTA TACATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	344	0.0029	-259	c.896 others(17): Show c.896+3487_896+3745del	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
DIP2C_chr10_269201_694668	417903	TAGGCCTC others(252): Show TAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTG TCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGCACC TGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTC GATAGGCCTCCCTGTTCACTGCACCTGTCAGGCCTCAGATAGGCATCCCC GTCCACCTGTCGGAGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCA GAGCTCGGAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-259	c.739 others(16): Show c.739+903_739+1161del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DOCK2_chr5_169632275_170088382	170040686	GCTTGTCA others(252): Show GCTTGTCATATTGCATTGGCCAGACCATTCATTATCAAGTTGCATGTTAG CTGGAATGGCACCTAACTTATCCAGGCAATAGTTCTCTCATCTGAAAAGA GGAATTCCTGAGACTCATCTCATAGGGTTGTCATAAATATTAAGTAATCT AAGAAATTTAAAATAGTTAACTTAGTACCTGTCATGCACTAAGTAACCAA CACACACTAGGTGCTGTCATTACCCACACAAAGTTCTGGTTATCCAGGGA GGAGGACTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02559.hp2 others(23): Show HG02055.hp1 HG02258.hp1 HG02559.hp2 HG02622.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0010 a0014 a0015	a0001c0004 a0001c0005 a0001c0009 others(21): Show a0001c0004 a0001c0005 a0001c0009 a0001c0017 a0001c0018 a0001c0019 a0001c0036 a0001c0039 a0001c0045 a0001c0048 a0001c0054 a0001c0059 a0001c0065 a0001c0077 a0001c0083 a0001c0084 a0002c0046 a0002c0064 a0003c0075 a0005c0041 a0007c0047 a0010c0085 a0014c0034 a0015c0033	a0001c0004t0001 a0001c0005t0004 a0001c0009t0002 others(22): Show a0001c0004t0001 a0001c0005t0004 a0001c0009t0002 a0001c0017t0002 a0001c0018t0002 a0001c0018t0006 a0001c0019t0001 a0001c0036t0008 a0001c0039t0005 a0001c0045t0005 a0001c0048t0002 a0001c0054t0001 a0001c0059t0004 a0001c0065t0003 a0001c0077t0001 a0001c0083t0001 a0001c0084t0001 a0002c0046t0001 a0002c0064t0001 a0003c0075t0002 a0005c0041t0001 a0007c0047t0001 a0010c0085t0002 a0014c0034t0001 a0015c0033t0002	a0001c0004t0001g0145 a0001c0005t0004g0004 a0001c0009t0002g0173 others(23): Show a0001c0004t0001g0145 a0001c0005t0004g0004 a0001c0009t0002g0173 a0001c0017t0002g0059 a0001c0018t0002g0167 a0001c0018t0006g0179 a0001c0019t0001g0012 a0001c0019t0001g0066 a0001c0036t0008g0137 a0001c0039t0005g0178 a0001c0045t0005g0176 a0001c0048t0002g0122 a0001c0054t0001g0168 a0001c0059t0004g0159 a0001c0065t0003g0177 a0001c0077t0001g0130 a0001c0083t0001g0154 a0001c0084t0001g0155 a0002c0046t0001g0061 a0002c0064t0001g0139 a0003c0075t0002g0149 a0005c0041t0001g0055 a0007c0047t0001g0142 a0010c0085t0002g0132 a0014c0034t0001g0057 a0015c0033t0002g0123	26	184	0.1413	-259	c.366 others(17): Show c.3666-364_3666-106del	DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	36/51		INFO_REALIGN_3_PRIME	chr5	TogoVar
EIF3H_chr8_116637130_116760823	116679605	CGGCCAGC others(252): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG02615.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0331 a0001c0001t0017g0332 a0001c0001t0017g0331 a0001c0001t0017g0332	2	336	0.0060	-259	c.290 others(19): Show c.290-20884_290-20626del	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EPS8L1_chr19_55070869_55092923	55078235	AGTCAGAG others(252): Show AGTCAGAGGGAAGAGGTGCTGGGGGTCTGGACTCCTGGGTCAGAGGGAAG AGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACTCCTGGG TCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAG GGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCT GGACTCCTGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0171	1	340	0.0029	-259	c.58+ others(13): Show c.58+123_58+381del	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
FARP2_chr2_241351285_241499841	241355718	GCGAGCCG others(252): Show GCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCC CCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCT AGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGC GAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCC GCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAG CCCCACCCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG02630.hp2 HG02818.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0001 a0009c0012t0001g0002 a0009c0012t0001g0001 a0009c0012t0001g0002	2	378	0.0053	-259	c.-69 others(9): Show c.-694_-436del	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		566		chr2	TogoVar
GLI3_chr7_41955949_42242209	42227562	AGGTGGGT others(252): Show AGGTGGGTCTTTTCTTTCTAAATTATAAATCTGAACCTGCGTCAACCTCT TACAACACAAGGCATTTAAAGCTTCCTGGAGCCACTGACCTGGTGACGCT GTAGTGCACGTCTGCATTTGAAAGTAAGCAAGAGAACAGAAAGCGAGCAA GAGAACCGCAACCTTTACCACCTTGGCGAATTCTTGCCGGGACCTACATA TTAAACAGCACTTGCACACAGACGCCTCAAGTCGTCCTCTTTAGAGTCGT CACTTAGACC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0130 a0001c0001t0011g0130	1	158	0.0063	-259	c.-42 others(17): Show c.-42-4526_-42-4268del	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	1/14			chr7	TogoVar
HERC4_chr10_67916905_68080283	68059474	TATAATAT others(252): Show TATAATATTATATATTATAACATTATATATTATAATATTATATATCATAA TAATATTATATATCATATTATATATCATAATATATATCATAATATTATAT ATCATATTATATATCATATTATATATCATAATATTATATATCATAATATT ATATATCATAATATTATATATTATATTATATATCATATTATATATTATAT TATATATCATAATATTATATATTATAATATTATATATCATAATATTATAT ATTATATATC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp2 HG01167.hp2 others(18): Show HG00673.hp1 HG00741.hp2 HG01167.hp2 HG01175.hp1 HG01517.hp1 HG01952.hp2 HG02135.hp2 HG02293.hp1 HG02572.hp1 HG02683.hp2 HG02735.hp1 HG02895.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp2 NA18994.hp1 NA19012.hp1 NA19065.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(18): Show a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0001g0213	21	360	0.0583	-259	c.226 others(19): Show c.226+13150_226+13408del	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HMGCLL1_chr6_55429373_55584192	55543095	TATAATAT others(252): Show TATAATATATGATATAATATATAATATATATCATATATATGATATATTAT ATATTATATATATTATATATATAATATATAATATATAATATATAATATAT TATATATTATATATTATATATTATATAATATATAATATAGATATAATATA GATATATAATATATAATATAATATATCTATATTATATATAATATATTATA TATCATATATGATATATAATATATAATATATATTATATATCATATATGAT ATATAATATG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(205): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0005t0002 a0002c0003t0002 a0003c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(203): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0207 a0001c0001t0002g0232 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0003g0147 a0001c0001t0003g0203 a0001c0001t0003g0217 a0001c0001t0004g0007 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0005g0160 a0001c0001t0006g0152 a0001c0001t0006g0233 a0001c0001t0007g0210 a0001c0001t0007g0248 a0001c0001t0009g0149 a0001c0001t0009g0150 a0001c0001t0009g0247 a0001c0001t0011g0139 a0001c0001t0011g0141 a0001c0001t0013g0047 a0001c0001t0015g0070 a0001c0001t0016g0319 a0001c0001t0017g0133 a0001c0001t0019g0330 a0001c0005t0002g0023 a0002c0003t0002g0058 a0003c0002t0001g0183	208	334	0.6228	-259	c.109 others(16): Show c.109-1214_109-956del	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	1/8			chr6	TogoVar
LMLN_chr3_197955217_198048720	198013330	CCAACTAG others(252): Show CCAACTAGTCTGACTTCTCTCCACCCCTCAGAGCCCCCTAACTAGTCTGA CTTCTCTCCACCCTTTAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCC TTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCT AACTAGTCTGACTTCTCTCCACCCTTCAGAGCCTCCTAACTAGTCTGACT TCTCTGTACCCTTCAAAGCCTCCTAACTAGTCTGACTTCTCTGTACCCTT CAGAGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp2 HG03540.hp2 others(3): Show HG02809.hp1 HG02970.hp2 HG03540.hp2 HG03688.hp2 HG04115.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 others(3): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0002t0012 a0002c0002t0014 a0002c0002t0017	a0002c0002t0002g0078 a0002c0002t0006g0024 a0002c0002t0009g0041 others(3): Show a0002c0002t0002g0078 a0002c0002t0006g0024 a0002c0002t0009g0041 a0002c0002t0012g0072 a0002c0002t0014g0058 a0002c0002t0017g0031	6	258	0.0233	-259	c.132 others(19): Show c.1320-5922_1320-5664del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16			chr3	TogoVar
MGAM_chr7_141990879_142111747	142042826	AATATCTA others(252): Show AATATCTATATTATATATACATATAATATCTAAATATAATATCTACATTA TATATACATATAATATCTAAATATAATATCTATATTATATATACATATAA TATCTAAATATAATATATATATTATATATACATATAATATCTAAATATAA TATATATATTATATATACATATAATATCTAAATATAATATATATAAAATA TAAACATAATATCTAAATATAATATCTATATTATATATACATATAATATC TAAATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00609.hp2 others(65): Show HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG02071.hp2 HG02080.hp2 HG02300.hp1 HG02683.hp2 HG02738.hp1 HG03017.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18969.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19007.hp1 NA19058.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0013 a0023 a0025 a0039 a0044 a0046 a0051 a0052 a0058 a0060 a0068	a0001c0001 a0001c0004 a0001c0005 others(25): Show a0001c0001 a0001c0004 a0001c0005 a0001c0010 a0001c0015 a0001c0023 a0001c0024 a0001c0028 a0001c0083 a0001c0092 a0001c0111 a0002c0013 a0002c0067 a0003c0006 a0003c0012 a0003c0027 a0005c0053 a0013c0044 a0023c0029 a0025c0132 a0039c0060 a0044c0101 a0046c0086 a0051c0055 a0052c0096 a0058c0051 a0060c0049 a0068c0047	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(25): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0010t0001 a0001c0015t0001 a0001c0023t0001 a0001c0024t0001 a0001c0028t0001 a0001c0083t0001 a0001c0092t0001 a0001c0111t0001 a0002c0013t0001 a0002c0067t0001 a0003c0006t0001 a0003c0012t0001 a0003c0027t0001 a0005c0053t0001 a0013c0044t0001 a0023c0029t0001 a0025c0132t0001 a0039c0060t0001 a0044c0101t0001 a0046c0086t0001 a0051c0055t0001 a0052c0096t0001 a0058c0051t0001 a0060c0049t0001 a0068c0047t0001	a0001c0001t0001g0007 a0001c0001t0001g0130 a0001c0001t0001g0131 others(64): Show a0001c0001t0001g0007 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0004t0001g0048 a0001c0004t0001g0072 a0001c0004t0001g0114 a0001c0004t0001g0168 a0001c0004t0001g0170 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0180 a0001c0004t0001g0256 a0001c0005t0001g0045 a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0191 a0001c0005t0001g0211 a0001c0005t0001g0214 a0001c0005t0001g0258 a0001c0005t0001g0278 a0001c0010t0001g0110 a0001c0015t0001g0198 a0001c0023t0001g0106 a0001c0023t0001g0179 a0001c0024t0001g0001 a0001c0028t0001g0128 a0001c0028t0001g0129 a0001c0083t0001g0290 a0001c0092t0001g0220 a0001c0111t0001g0227 a0002c0013t0001g0052 a0002c0013t0001g0093 a0002c0013t0001g0103 a0002c0013t0001g0118 a0002c0067t0001g0030 a0003c0006t0001g0155 a0003c0012t0001g0107 a0003c0012t0001g0177 a0003c0012t0001g0188 a0003c0012t0001g0212 a0003c0027t0001g0127 a0003c0027t0001g0132 a0005c0053t0001g0181 a0013c0044t0001g0296 a0013c0044t0001g0297 a0023c0029t0001g0248 a0025c0132t0001g0150 a0039c0060t0001g0108 a0044c0101t0001g0275 a0046c0086t0001g0249 a0051c0055t0001g0186 a0052c0096t0001g0266 a0058c0051t0001g0182 a0060c0049t0001g0102 a0068c0047t0001g0272	68	316	0.2152	-259	c.249 others(19): Show c.2498+1985_2498+2243del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142042974	AATATATA others(252): Show AATATATATATTATATATACATATAATATCTAAATATAATATATATAAAA TATAAACATAATATCTAAATATAATATCTATATTATATATACATATAATA TCTAAATATAATATATATATTATATATACATATAATATCTAAATATAATA TATATATTATATATACATATAATATCTAAATATAATATCTATATTATATA TACATATAATATCTAAATATAATATATATATTATATATACATATAATATC TAAATATAAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0049 a0049	a0049c0054 a0049c0054	a0049c0054t0001 a0049c0054t0001	a0049c0054t0001g0165 a0049c0054t0001g0165	1	316	0.0032	-259	c.249 others(19): Show c.2498+2137_2498+2395del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237543529	GGGACAGT others(252): Show GGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGG GGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGAG TGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGA CTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGG TGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTG GTGAGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	286	0.0035	-259	c.153 others(18): Show c.1539+889_1539+1147del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYT1_chr20_64159452_64247253	64176021	TCTCCTGT others(252): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCG TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTG GCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	223	0.0045	-259	c.-99 others(19): Show c.-99+11289_-99+11547del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NOC4L_chr12_132139457_132157468	132149756	CCACACCC others(252): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03453.hp2 HG02738.hp2 HG03453.hp2	a0002 a0022 a0002 a0022	a0002c0002 a0022c0017 a0002c0002 a0022c0017	a0002c0002t0001 a0022c0017t0001 a0002c0002t0001 a0022c0017t0001	a0002c0002t0001g0220 a0022c0017t0001g0197 a0002c0002t0001g0220 a0022c0017t0001g0197	2	294	0.0068	-259	c.901 others(15): Show c.901+986_902-842del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149886	TACCACAC others(252): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	294	0.0034	-259	c.901 others(16): Show c.901+1035_902-793del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149930	TACCACAC others(252): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0010 a0010	a0010c0040 a0010c0040	a0010c0040t0001 a0010c0040t0001	a0010c0040t0001g0196 a0010c0040t0001g0196	1	294	0.0034	-259	c.902 others(16): Show c.902-1012_902-754del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NSMF_chr9_137442570_137464334	137451344	TCTCTTCC others(252): Show TCTCTTCCCCTTGATCTCCCCCGCCACGTCTCTTCCCCTTGATCTCCCCC GCCACGTCTCTTCCCCTTGATCTCCCGCGCCACACGCCTCTTCCCCTTGT TCTGCCCTCCACGCCTCTTCCCCTTGGTCTTCCCCACCACACGCCTCTTC CCCTTGGTCTCCCCCGCCACGTCTCTTCCCCTTGGTCTTCCTTGGCCACA CGCCTCTTCCCCTTGATCTCCCCACCATGCCTCTTCCCCTTGATCTCCCC CTCCACACGC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01256.hp2 NA20752.hp2 HG01168.hp2 HG01256.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	3	414	0.0073	-259	c.123 others(18): Show c.1236+762_1236+1020del	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
OTUD7A_chr15_31470398_31875673	31511365	TATATATG others(252): Show TATATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAA CACACACATATATGTATATCTATATGTAACACACACATATATGTATATCT ATATGTAACACACACATATATGTATATCTATATGTAACACACACATATAT GTATATCTATATGTAACACACACATATATGTATATCTATATGTAACACAC ACATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG03471.hp1 others(2): Show HG01243.hp1 HG02559.hp2 HG03471.hp1 HG03540.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0003c0010	a0001c0001t0064 a0001c0002t0033 a0001c0002t0096 others(2): Show a0001c0001t0064 a0001c0002t0033 a0001c0002t0096 a0001c0011t0033 a0003c0010t0030	a0001c0001t0064g0097 a0001c0002t0033g0206 a0001c0002t0096g0229 others(2): Show a0001c0001t0064g0097 a0001c0002t0033g0206 a0001c0002t0096g0229 a0001c0011t0033g0237 a0003c0010t0030g0225	5	244	0.0205	-259	c.894 others(17): Show c.894-7806_894-7548del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PPP2R3B_chrX_328933_391907	368585	CCGGGCAC others(252): Show CCGGGCACCGACCGGGGGAAGGCCGGGACCACCCACCCTGGGCACCGACG GGGGGAAGGCCGGGACCACCCACCCTGGGCACCGACCGGGGGAAGGCCGG GACCACCCACCCTGGGCACCGACGGGGGGAAGGCCGGGACCACCCACCTT GGGCACCGACGGGGGGAAGGCCGGGACCACCCACCTTGGGCACCGACACG GGGAAGGCCGGGACCACCCACCCCGGGCACTGACGGGGGGAAGGCCGGGA CCACCCACCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG02630.hp2 HG02965.hp1	a0003 a0004 a0003 a0004	a0003c0013 a0004c0012 a0003c0013 a0004c0012	a0003c0013t0006 a0004c0012t0010 a0003c0013t0006 a0004c0012t0010	a0003c0013t0006g0025 a0004c0012t0010g0024 a0003c0013t0006g0025 a0004c0012t0010g0024	2	25	0.0800	-259	c.325 others(17): Show c.325-7254_325-6996del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PRDM15_chr21_41793225_41884344	41806075	CCATCACC others(252): Show CCATCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACC ATCACCACCACCATCACCACCACCACCACCATCACCATCACCACCACCAT CACCACCACCACCATCACCACCACCACCATCACCATCACCATCACCATCA CCACCATCACTACCACCATCACCACCACCACCATCACCACCACCCATCAC CACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCA CCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0010 a0001c0011t0010	a0001c0011t0010g0357 a0001c0011t0010g0379 a0001c0011t0010g0357 a0001c0011t0010g0379	2	406	0.0049	-259	c.265 others(19): Show c.2653-1720_2653-1462del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PTP4A3_chr8_141387021_141437454	141437040	CGGCCTGG others(252): Show CGGCCTGGCCCTGCCCGCCGTGGGGAGCTGTGGGTCCCGGCCTGGCCCTG CCCGCCATGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCGCCGTGGGGA GCTGTGGGTCCCGGCCTGGCCCTGCCCGCCGTGGGGAGCTGTGGGTCCCG GCCTGGCCCTGCCCGCCGTGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCC CGCCGTGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCGCCGTGGGGAGC TGTGGGTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(120): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01517.hp1 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18995.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19079.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(113): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0003g0009 a0001c0001t0003g0075 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0151 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0226 a0001c0001t0003g0253 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0278 a0001c0001t0004g0036 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0094 a0001c0001t0004g0240 a0001c0001t0004g0267 a0001c0001t0007g0022 a0001c0001t0007g0045 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0008g0020 a0001c0001t0008g0024 a0001c0001t0008g0026 a0001c0001t0008g0032 a0001c0001t0008g0064 a0001c0001t0009g0184 a0001c0001t0009g0186 a0001c0001t0009g0187 a0001c0001t0012g0021 a0001c0001t0017g0037 a0001c0001t0017g0038 a0001c0001t0018g0046 a0001c0001t0018g0068 a0001c0001t0022g0182 a0001c0001t0024g0018 a0001c0001t0025g0294 a0001c0001t0026g0052 a0001c0001t0031g0069 a0001c0001t0034g0058 a0001c0001t0035g0297 a0001c0001t0036g0115 a0001c0001t0038g0054 a0001c0001t0039g0043 a0001c0002t0002g0073	123	323	0.3808	-259	c.59 others(11): Show c.5997_*6255del	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding		4587		chr8	TogoVar
PXMP2_chr12_132682587_132709985	132693836	TAGTTAGT others(252): Show TAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTT AGATAGTGAGCGCCCTTAGCCAGTTAGTGAGCGCCCTTGCCAGTTAGTTA GTGAGCGCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAG CTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGC GCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGATAGTGAGC GCCCTTAGCC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0080 a0001c0004t0002g0080	1	350	0.0029	-259	c.237 others(17): Show c.237-2036_237-1778del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCUBE1_chr22_43192280_43348372	43281017	TTCTGTCA others(252): Show TTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGT CACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCAC CTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCT CCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCT CCTCAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0014 a0014	a0014c0049 a0014c0049	a0014c0049t0047 a0014c0049t0047	a0014c0049t0047g0199 a0014c0049t0047g0199	1	280	0.0036	-259	c.484 others(18): Show c.484+9770_484+10028del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SEPTIN2_chr2_241310925_241359027	241355718	GCGAGCCG others(252): Show GCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCC CCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCT AGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGC GAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCC GCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAG CCCCACCCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02630.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0275 a0001c0001t0019g0276 a0001c0001t0019g0275 a0001c0001t0019g0276	2	408	0.0049	-259	c.37 others(11): Show c.3782_*4040del	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1692		chr2	TogoVar
SKI_chr1_2223319_2315213	2280653	ACCCGAGA others(252): Show ACCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAG AGAGAGGACG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(26): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00733.hp1 HG01257.hp1 HG01258.hp2 HG01517.hp1 HG02071.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp1 HG02897.hp1 HG02922.hp2 HG03225.hp1 HG03490.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18947.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0046 a0001c0001t0059 a0001c0001t0074 a0001c0001t0084 a0001c0014t0001	a0001c0001t0001g0166 a0001c0001t0001g0195 a0001c0001t0001g0299 others(26): Show a0001c0001t0001g0166 a0001c0001t0001g0195 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0002g0123 a0001c0001t0002g0242 a0001c0001t0002g0320 a0001c0001t0003g0246 a0001c0001t0004g0220 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0006g0131 a0001c0001t0006g0150 a0001c0001t0006g0310 a0001c0001t0007g0302 a0001c0001t0008g0111 a0001c0001t0014g0144 a0001c0001t0016g0298 a0001c0001t0016g0317 a0001c0001t0019g0249 a0001c0001t0020g0167 a0001c0001t0021g0250 a0001c0001t0021g0316 a0001c0001t0022g0303 a0001c0001t0046g0057 a0001c0001t0059g0244 a0001c0001t0074g0192 a0001c0001t0084g0112 a0001c0014t0001g0174	29	330	0.0879	-259	c.970 others(19): Show c.970-22242_970-21984del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1070675	CATCACAC others(252): Show CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0007 a0001c0031t0003g0007	1	118	0.0085	-259	c.224 others(19): Show c.2241+2699_2241+2957del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SNTG2_chr2_945849_1372613	1012551	TGGGCAGA others(252): Show TGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATAAGGGCAGAGAGAA GGGTGGTCTGGAAAGGGATTTATAAGGACAGAGAGAAGGGTGGTCTGTAG AGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATG GGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGACAGAGAGAAGG GTGGTCTGGAGAAGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAG GGATTTATAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 NA20752.hp2 HG00735.hp2 HG01074.hp2 NA20752.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0013c0020 a0002c0003 a0013c0020	a0002c0003t0001 a0013c0020t0001 a0002c0003t0001 a0013c0020t0001	a0002c0003t0001g0051 a0013c0020t0001g0142 a0013c0020t0001g0143 a0002c0003t0001g0051 a0013c0020t0001g0142 a0013c0020t0001g0143	3	190	0.0158	-259	c.72+ others(17): Show c.72+61520_72+61778del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013351	GAGAGGGA others(252): Show GAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTAT ATGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGA AGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGTA GAGGGATTTATAAGGGCAGAGAGAAGGGTGGTCTGGAGAGGGATTTATAT GGGCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATAAGGGCAGAGAGAAG GGTGGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	190	0.0053	-259	c.72+ others(17): Show c.72+62324_72+62582del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1013873	GGGATTTA others(252): Show GGGATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGG GCAGAGAGAAGGGTGGTCTGTAGAGGGATTTATATGGGCAGAGAGAAGGG TGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTGGTCTGTAGAGG GATTTATATGGGCAGAGAGAAGGGTGGTCTGGAGAAGGATTTATATGGGC AGAGAGAAGGGTGGTCTGGAGAGGGATTTATATGGGCAGAGAGAAGGGTG GTCTGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	190	0.0053	-259	c.72+ others(17): Show c.72+62810_72+63068del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STARD13_chr13_33098137_33290755	33177750	AAAAGGAA others(252): Show AAAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGA AGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG03195.hp2 HG02486.hp1 HG02559.hp1 HG03195.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0027 a0001c0008t0029 a0001c0008t0008 a0001c0008t0027 a0001c0008t0029	a0001c0008t0008g0126 a0001c0008t0027g0299 a0001c0008t0029g0301 a0001c0008t0008g0126 a0001c0008t0027g0299 a0001c0008t0029g0301	3	302	0.0099	-259	c.170 others(19): Show c.170-10387_170-10129del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
TARS3_chr15_101648596_101729473	101720276	GCTATATA others(252): Show GCTATATAATTGTATTTATACAATAGCTTCTATACAATTGTATTTAATGC TAAGAATTAACATGAGTCAAAACAATATAAGTTCACTAATGTATCTAATT TCTAGAAAAGTCAAAGCACTTTTCCAAGACTGATAATAGCTCTAAAACAT TTATCTTCAATCTATACTTAAAAGACCTGTAAAAACTCATGGAAATTACT TGATTGACGAATAAAGTCAGTGTAAAATGGCCTATCAAGAATTACAGATT TTTTTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	278	0.0036	-259	c.566 others(15): Show c.566+591_566+849del	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	3/18			chr15	TogoVar
THADA_chr2_43225851_43601038	43515121	TATATTTT others(252): Show TATATTTTATATATAATATATAATATATTTTATATATTATATATAATATA TTATATATTATATATAATATATTATATATAATATATAATATATAATATAT TATATATAATATATAATATATAATATATTATATATAATATATAATATATA ATATATAATATATTATATATAATATATAATATGTAATATATAATATTTTA TATATAATATATAATATAATATATAATATTTTATATATAATATATAATAT ATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0059 a0006c0008t0001g0059	1	206	0.0049	-259	c.337 others(19): Show c.3375-6600_3375-6342del	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
TUBGCP5_chr15_22994177_23044569	23040302	ACACCTGG others(252): Show ACACCTGGACAGAGGTGCTGGGGGGACATCATAACCTCACCTGCTCAGAG GTGCTAGGGGGTATCATAATCCCACCTGGCCAGAGGTGCTGTGGGGCCAT CATAACCCAACCTGGCCAGAGGTGCTGGGGGGACATCTTAACCTCACCTG GCCAGAGGTGCTAGGGGGATATCATAATCCCACCTGGCCAGAGATTCTGG GGGGACATCATAACCCCAGCTGGCCGGAGGTGCCGGGGGGCGGGGGGAAC TTCATAACCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0216 a0001c0001t0001g0219	2	351	0.0057	-259	c.-10 others(10): Show c.-1018_-760del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		734		chr15	TogoVar

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