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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
LMLN_chr3_197955217_198048720	198012873	CCTTCAGA others(323): Show CCTTCAGAGTCCCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGTCCC CTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCCCCTAACTAGTCTGA CTTCTCTGTACCCTTCAGAGTCCCCTAACTAGTCTGACTTCTCTGTACCC TTCAGAGTCCCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCCCCT AACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGACT TCTCTCCACCCCTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTT TAGAGCCCCCTAACTAGTCTGACTTCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02809.hp2 others(10): Show HG02451.hp2 HG02615.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG03139.hp2 HG03453.hp2 HG03579.hp2 HG03669.hp2 HG03927.hp2 NA18948.hp2 NA19065.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 others(3): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 a0002c0002t0020 a0002c0002t0022 a0002c0002t0056	a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0044 others(10): Show a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0044 a0002c0002t0008g0008 a0002c0002t0008g0009 a0002c0002t0016g0007 a0002c0002t0016g0010 a0002c0002t0016g0011 a0002c0002t0020g0029 a0002c0002t0020g0056 a0002c0002t0022g0014 a0002c0002t0022g0015 a0002c0002t0056g0028	13	258	0.0504	-330	c.132 others(19): Show c.1320-6379_1320-6050del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16						chr3	TogoVar
MCM6_chr2_135834626_135881443	135860040	GTGATCCA others(323): Show GTGATCCACCTACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCACACCTAGCCTAAAACATCAATTTTATTTATTTTTTAATTTAATTA ATTTATTTATTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAG TGGCTTGATCTTGGCTCACTCCAAGCTCTGCCTACTGGGTTCATGCCATT CTCCTGCTTCAGCCTCTCGAGTAGCTGGGACTACAGGCGCTCGCCACCAC ACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGT TAGCCAGGACGGTCTCGATCTCCTGACCTCA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18983.hp2 HG02083.hp1 NA18983.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0003 a0009c0008t0003 a0001c0001t0003 a0009c0008t0003	a0001c0001t0003g0203 a0009c0008t0003g0217 a0001c0001t0003g0203 a0009c0008t0003g0217	2	394	0.0051	-330	c.122 others(17): Show c.1221-928_1221-599del		MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding	8/16						chr2	TogoVar
MEF2C_chr5_88712117_88888184	88736195	TAAATATT others(323): Show TAAATATTTCAGCAACTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(207): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(207): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0102 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0152 a0001c0001t0002g0162 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0268 a0001c0001t0002g0280 a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0004g0009 a0001c0001t0004g0071 a0001c0001t0004g0080 a0001c0001t0004g0108 a0001c0001t0004g0136 a0001c0001t0004g0164 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0298 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0008g0035 a0001c0001t0008g0068 a0001c0001t0008g0069 a0001c0001t0008g0107 a0001c0001t0008g0184 a0001c0001t0009g0175 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0179 a0001c0001t0010g0032 a0001c0001t0010g0033 a0001c0001t0010g0056 a0001c0001t0011g0053 a0001c0001t0011g0054 a0001c0001t0011g0055 a0001c0001t0012g0057 a0001c0001t0012g0138 a0001c0001t0012g0151 a0001c0001t0013g0144 a0001c0001t0013g0145 a0001c0001t0013g0156 a0001c0001t0015g0081 a0001c0001t0015g0089 a0001c0001t0016g0074 a0001c0001t0016g0079 a0001c0001t0018g0119 a0001c0001t0020g0004 a0001c0001t0021g0197 a0001c0001t0022g0211 a0001c0001t0023g0209 a0001c0001t0025g0153 a0001c0001t0028g0170 a0001c0001t0029g0019 a0001c0001t0030g0109 a0001c0001t0031g0167 a0001c0001t0032g0130 a0001c0001t0033g0060 a0001c0001t0034g0012 a0001c0001t0035g0085 a0001c0001t0036g0015 a0001c0001t0037g0236	210	302	0.6954	-330	c.638 others(17): Show c.638-4624_638-4295del		MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	6/10						chr5	TogoVar
MLPH_chr2_237482251_237560322	237543355	GCACGGTA others(323): Show GCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGT GGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT TGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTG GTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAG TGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAG TGGTGAGTGGGGGCACGGTAGTGACTGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02897.hp2 HG02055.hp1 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0005 a0003c0003t0001 a0003c0003t0005	a0003c0003t0001g0264 a0003c0003t0005g0265 a0003c0003t0001g0264 a0003c0003t0005g0265	2	286	0.0070	-330	c.153 others(18): Show c.1539+697_1539+1026del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MTBP_chr8_120440419_120528636	120503579	GGTCCTCA others(323): Show GGTCCTCATACACAGTTCAGATTTCATTTTAAGTGCATTGGTGGGAGGAT TTCATATGAAAGAGTGATGGGATATGATTTTGCAAAAATTTTGCTTTCTT ACGGCAAATAAATTGCAGGAGGGAGAGATTAGAGCAGAGAGACAGATGGC TCTATCTGTAGGCTAAGTGAGAGATGACTGTAATTTCAAACTAGAGCAGT AGTAGTGGAAATAAATTTGGGAGATAACGTTAGTGGTAAGCTGGTGAAAA GCTTCCTATGATGCATTAGATGTGGAATAGAGGGAAAGGAAATGTTGAAG ATCATTTAGATTTCTGGCTTCAGTCGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	352	0.0028	-330	c.172 others(18): Show c.1727+973_1727+1302del		MTBP	ENSG00000172167.8	transcript	ENST00000305949.6	protein_coding	15/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
NAALADL2_chr3_174854334_175815548	174897814	TAAAAAAA others(323): Show TAAAAAAAGAATGAGATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 HG02109.hp2 HG03209.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0030 a0007c0012t0029 a0001c0001t0030 a0007c0012t0029	a0001c0001t0030g0030 a0007c0012t0029g0024 a0001c0001t0030g0030 a0007c0012t0029g0024	2	64	0.0313	-330	c.43+ others(17): Show c.43+38382_43+38711del		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NPR1_chr1_153673688_153698992	153696118	CTTATTTA others(323): Show CTTATTTATTTATTTTTTAATTTTTTTTTTTTTGAGTCAGAGTCTTGCTC TGTCACCCAGGCTGGAGAGCAGTGGCGCGATCTCCGCTCACTGCAAGCTC CACCTCCTGGGTTCACCCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGTGCCCGGCTAATTTTTTTGTATTTTTAGT TGAGACGGGGTTTCACCATGTTAGCTAGGATGGTCTCGATCTCCTGATCT CGTGATCCGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCAGCCACAAATCCTTATTTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02965.hp1 HG03540.hp2 HG02818.hp2 HG02965.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182	3	346	0.0087	-330	c.27 others(11): Show c.2705_*3034del		NPR1	ENSG00000169418.10	transcript	ENST00000368680.4	protein_coding					2127		chr1	TogoVar
NPR1_chr1_153673688_153698992	153696133	TTTAATTT others(323): Show TTTAATTTTTTTTTTTTTGAGTCAGAGTCTTGCTCTGTCACCCAGGCTGG AGAGCAGTGGCGCGATCTCCGCTCACTGCAAGCTCCACCTCCTGGGTTCA CCCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGTGCCCGGCTAATTTTTTTGTATTTTTAGTTGAGACGGGGTTTCA CCATGTTAGCTAGGATGGTCTCGATCTCCTGATCTCGTGATCCGCCCATC TCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ACAAATCCTTATTTATTTATTTATTTATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	346	0.0029	-330	c.27 others(11): Show c.2720_*3049del		NPR1	ENSG00000169418.10	transcript	ENST00000368680.4	protein_coding					2142		chr1	TogoVar
NTN5_chr19_48656407_48678017	48669225	CGACCATC others(323): Show CGACCATCATCACCACCACCACCATCACCACCACCACGACCATCATCACC ACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCAT CACCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCA CCACCATCACCACCACCATCACCACCACCACCATCACCACCACCATCACC ACCATCACCACCACCACCACCATCACCACCATGACCACCATCATCACCAC CATCACCACCATCACCATCACCACCACCACGACCATCATCACCACCACCA CCATCACCACCACCATCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp2 others(51): Show HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19057.hp2 NA19062.hp1 NA19067.hp1 NA19068.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069	54	412	0.1311	-330	c.631 others(16): Show c.631+801_631+1130del		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
OXR1_chr8_106265190_106757694	106716327	TAAAATAC others(323): Show TAAAATACACACTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00609.hp2 others(112): Show HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18949.hp2 NA18960.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA18991.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0007 others(6): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0002c0003 a0003c0004 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0005t0005 a0001c0007t0005 a0001c0008t0002 a0001c0010t0001 a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0004c0006t0002 a0005c0009t0001	a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 others(112): Show a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0003g0049 a0001c0001t0003g0055 a0001c0001t0003g0070 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0142 a0001c0001t0004g0063 a0001c0001t0004g0092 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0005g0095 a0001c0001t0005g0119 a0001c0001t0006g0002 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0007g0023 a0001c0001t0007g0117 a0001c0001t0007g0164 a0001c0001t0008g0005 a0001c0001t0008g0011 a0001c0001t0009g0030 a0001c0001t0009g0171 a0001c0001t0010g0018 a0001c0001t0011g0079 a0001c0001t0012g0008 a0001c0001t0013g0040 a0001c0001t0015g0162 a0001c0005t0005g0089 a0001c0007t0005g0156 a0001c0008t0002g0077 a0001c0010t0001g0143 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0002g0012 a0003c0004t0001g0029 a0003c0004t0001g0069 a0004c0006t0002g0016 a0005c0009t0001g0058	115	172	0.6686	-330	c.195 others(19): Show c.1956+2358_1956+2687del		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	11/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
PBK_chr8_27804624_27842817	27804983	CAAAAGAA others(323): Show CAAAAGAAGAGGCTTCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(130): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp2 HG01433.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0002c0005 a0003c0004 others(2): Show a0002c0002 a0002c0005 a0003c0004 a0004c0006 a0005c0009	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(5): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0005t0002 a0003c0004t0002 a0004c0006t0002 a0005c0009t0002	a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0013 others(88): Show a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0013 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0135 a0002c0002t0002g0226 a0002c0002t0004g0007 a0002c0002t0004g0010 a0002c0002t0004g0043 a0002c0002t0004g0044 a0002c0002t0004g0045 a0002c0002t0004g0046 a0002c0002t0004g0047 a0002c0002t0005g0050 a0002c0002t0005g0055 a0002c0002t0005g0056 a0002c0002t0005g0057 a0002c0002t0009g0123 a0002c0002t0009g0124 a0002c0005t0002g0034 a0002c0005t0002g0122 a0002c0005t0002g0129 a0002c0005t0002g0130 a0002c0005t0002g0131 a0002c0005t0002g0132 a0002c0005t0002g0133 a0002c0005t0002g0134 a0003c0004t0002g0014 a0003c0004t0002g0138 a0003c0004t0002g0139 a0003c0004t0002g0140 a0003c0004t0002g0141 a0003c0004t0002g0142 a0003c0004t0002g0143 a0003c0004t0002g0144 a0003c0004t0002g0145 a0004c0006t0002g0033 a0004c0006t0002g0125 a0004c0006t0002g0128 a0004c0006t0002g0136 a0004c0006t0002g0137 a0005c0009t0002g0027 a0005c0009t0002g0087	133	392	0.3393	-330	c.49 others(11): Show c.4992_*5321del		PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding					4640		chr8	TogoVar
PCBP3_chr21_45638725_45947450	45924641	AGTGGGTA others(323): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACCGGGAACGGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGTG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	292	0.0034	-330	c.718 others(17): Show c.718-5240_718-4911del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PITPNC1_chr17_67372281_67702256	67524738	TGAAGGTT others(323): Show TGAAGGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCATGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(185): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0002t0018 a0001c0003t0054	a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 others(185): Show a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0002g0003 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0139 a0001c0001t0002g0150 a0001c0001t0002g0189 a0001c0001t0002g0211 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0004g0046 a0001c0001t0004g0099 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0156 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0186 a0001c0001t0004g0191 a0001c0001t0005g0089 a0001c0001t0005g0110 a0001c0001t0005g0152 a0001c0001t0005g0157 a0001c0001t0005g0169 a0001c0001t0005g0181 a0001c0001t0006g0076 a0001c0001t0006g0119 a0001c0001t0006g0125 a0001c0001t0006g0137 a0001c0001t0006g0149 a0001c0001t0006g0176 a0001c0001t0007g0075 a0001c0001t0007g0103 a0001c0001t0007g0107 a0001c0001t0007g0127 a0001c0001t0007g0177 a0001c0001t0007g0188 a0001c0001t0008g0104 a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0173 a0001c0001t0008g0179 a0001c0001t0008g0214 a0001c0001t0009g0159 a0001c0001t0009g0180 a0001c0001t0009g0194 a0001c0001t0009g0206 a0001c0001t0010g0093 a0001c0001t0010g0114 a0001c0001t0010g0135 a0001c0001t0010g0167 a0001c0001t0010g0199 a0001c0001t0011g0123 a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0011g0165 a0001c0001t0011g0208 a0001c0001t0012g0004 a0001c0001t0012g0078 a0001c0001t0012g0193 a0001c0001t0012g0205 a0001c0001t0013g0077 a0001c0001t0013g0083 a0001c0001t0013g0121 a0001c0001t0013g0197 a0001c0001t0014g0016 a0001c0001t0014g0034 a0001c0001t0015g0015 a0001c0001t0015g0024 a0001c0001t0015g0027 a0001c0001t0016g0001 a0001c0001t0016g0040 a0001c0001t0016g0041 a0001c0001t0016g0044 a0001c0001t0017g0054 a0001c0001t0017g0060 a0001c0001t0017g0062 a0001c0001t0018g0049 a0001c0001t0018g0059 a0001c0001t0019g0048 a0001c0001t0019g0085 a0001c0001t0019g0101 a0001c0001t0020g0164 a0001c0001t0021g0017 a0001c0001t0021g0026 a0001c0001t0022g0052 a0001c0001t0022g0061 a0001c0001t0023g0115 a0001c0001t0024g0109 a0001c0001t0024g0174 a0001c0001t0025g0192 a0001c0001t0025g0196 a0001c0001t0026g0178 a0001c0001t0027g0020 a0001c0001t0027g0025 a0001c0001t0028g0068 a0001c0001t0028g0070 a0001c0001t0029g0055 a0001c0001t0030g0058 a0001c0001t0031g0051 a0001c0001t0032g0050 a0001c0001t0034g0072 a0001c0001t0035g0053 a0001c0001t0037g0018 a0001c0001t0038g0216 a0001c0001t0039g0175 a0001c0001t0040g0095 a0001c0001t0041g0215 a0001c0001t0042g0074 a0001c0001t0043g0105 a0001c0001t0044g0094 a0001c0001t0045g0108 a0001c0001t0046g0047 a0001c0001t0047g0112 a0001c0001t0049g0170 a0001c0001t0051g0138 a0001c0001t0052g0147 a0001c0001t0053g0185 a0001c0001t0055g0096 a0001c0001t0056g0092 a0001c0001t0057g0111 a0001c0001t0058g0073 a0001c0001t0059g0098 a0001c0001t0060g0008 a0001c0001t0061g0002 a0001c0001t0062g0039 a0001c0001t0063g0037 a0001c0001t0064g0042 a0001c0001t0065g0035 a0001c0001t0066g0023 a0001c0001t0067g0031 a0001c0001t0068g0045 a0001c0001t0070g0032 a0001c0001t0071g0069 a0001c0001t0073g0067 a0001c0001t0074g0066 a0001c0001t0076g0065 a0001c0001t0077g0071 a0001c0002t0018g0056 a0001c0003t0054g0088	188	218	0.8624	-330	c.49- others(15): Show c.49-8052_49-7723del		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
POLA1_chrX_24688918_25001986	24737912	TAAAAGCC others(323): Show TAAAAGCCTCTGGTAGTTTTGGCCGGGCGCGGTGGCTCAAGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGG GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02109.hp1 others(16): Show HG01074.hp1 HG01243.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02647.hp1 HG02717.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03579.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 others(16): Show a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0194 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0195 a0001c0006t0001g0148	19	197	0.0965	-330	c.204 others(17): Show c.2040+191_2040+520del		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	19/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(323): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0135 a0001c0001t0035g0135	1	254	0.0039	-330	c.292 others(19): Show c.292-24962_292-24633del		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PPP2R3B_chrX_328933_391907	365832	CACTGCAC others(323): Show CACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAA CAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGTTGCAGT GAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC TGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCACATGCCTGT AATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGA GGCAGAGGTTGCAGTGAGCTGAGATCGCACT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0013 a0002c0003t0003g0013	1	25	0.0400	-330	c.325 others(17): Show c.325-4572_325-4243del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PPP2R3B_chrX_328933_391907	366262	AGAGGCTG others(323): Show AGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGGTGCAGT GAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC TGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGAGGGTGCCTGT ACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGA GGCGGAGGGTGCAGTGAGCTGAGATCGCACTACTGCACTCCAGCCTGGGC GACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTG GTGGAGGGTGCCTGTACTCCCAGCTACTCGG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	25	0.0400	-330	c.325 others(17): Show c.325-5002_325-4673del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar
PRKCA_chr17_66297613_66815743	66798510	CGGTGGTG others(323): Show CGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	178	0.0056	-330	c.185 others(19): Show c.1855-5355_1855-5026del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PTPRD_chr9_8309246_10618002	9950428	TAAGAAGA others(323): Show TAAGAAGAAAGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGTGGACGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01109.hp1 others(21): Show HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0014 a0001c0017 a0001c0018 a0004c0016	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(20): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0002t0011 a0001c0002t0015 a0001c0003t0004 a0001c0003t0007 a0001c0003t0023 a0001c0004t0018 a0001c0005t0001 a0001c0006t0026 a0001c0007t0021 a0001c0010t0017 a0001c0014t0025 a0001c0017t0002 a0001c0018t0004 a0004c0016t0020	a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0013g0022 others(21): Show a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0013g0022 a0001c0001t0014g0008 a0001c0001t0019g0023 a0001c0001t0022g0012 a0001c0001t0024g0032 a0001c0002t0001g0009 a0001c0002t0005g0025 a0001c0002t0009g0017 a0001c0002t0011g0030 a0001c0002t0015g0010 a0001c0003t0004g0027 a0001c0003t0007g0029 a0001c0003t0023g0031 a0001c0004t0018g0015 a0001c0005t0001g0019 a0001c0006t0026g0034 a0001c0007t0021g0002 a0001c0010t0017g0016 a0001c0014t0025g0033 a0001c0017t0002g0005 a0001c0018t0004g0020 a0004c0016t0020g0011	24	34	0.7059	-330	c.-47 others(21): Show c.-471-12148_-471-11819del		PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45						chr9	TogoVar
PTPRH_chr19_55176247_55214501	55208451	GCTGGGGG others(323): Show GCTGGGGGTCTGGACTCCTGGGCCTGAAGGAGGAGGGACTGGGGGTCTGG ACCCCTGAGTCTGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTGAGTCTG AGGGAGGAGGGGTTGGGGGCCTGGACTCTTGGTTTGAGGGAGGAAGGGCT GGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCTGAGGG AGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GTCTGGACTCCTGGGCCTGAAGGAGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0124 a0006c0010t0001g0124	1	378	0.0027	-330	c.51+ others(13): Show c.51+602_51+931del		PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19						chr19	TogoVar
RBMX2_chrX_130396987_130418656	130405824	TTGCTTTG others(323): Show TTGCTTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG01081.hp2 others(75): Show HG00323.hp2 HG00558.hp2 HG01081.hp2 HG01123.hp1 HG01243.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03927.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18947.hp1 NA18950.hp1 NA18957.hp2 NA18962.hp1 NA18973.hp2 NA18980.hp2 NA18984.hp1 NA19000.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19065.hp2 NA19074.hp2 NA19080.hp1 NA19085.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0002 a0002c0003t0001 a0005c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0019 others(34): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0094 a0001c0001t0003g0010 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0050 a0001c0001t0004g0025 a0001c0001t0009g0006 a0001c0002t0002g0007 a0001c0002t0002g0053 a0002c0003t0001g0020 a0005c0004t0001g0006	78	305	0.2557	-330	c.173 others(17): Show c.173+1984_173+2313del		RBMX2	ENSG00000134597.17	transcript	ENST00000305536.11	protein_coding	3/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
RC3H1_chr1_173926084_174027357	173975597	GATAAAAA others(323): Show GATAAAAATACAGTAAATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02486.hp1 others(5): Show HG02055.hp2 HG02257.hp2 HG02486.hp1 HG02895.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp2 HG06807.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0005 a0001c0001t0082 a0006c0009t0005 a0001c0001t0005 a0001c0001t0082 a0006c0009t0005	a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 others(5): Show a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0082g0289 a0006c0009t0005g0290	8	310	0.0258	-330	c.110 others(19): Show c.1102+2561_1102+2890del		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	7/19						chr1	TogoVar
RC3H1_chr1_173926084_174027357	173975599	TAAAAATA others(323): Show TAAAAATACAGTAAATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(187): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0002c0003 a0003c0008 a0007c0014 a0009c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(94): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0083 a0001c0001t0085 a0001c0001t0089 a0001c0001t0091 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0105 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0125 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0133 a0001c0001t0135 a0001c0002t0009 a0001c0002t0032 a0001c0002t0033 a0001c0002t0084 a0001c0002t0086 a0001c0002t0087 a0001c0002t0088 a0001c0002t0090 a0001c0002t0092 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0002t0136 a0001c0004t0063 a0001c0004t0070 a0001c0004t0071 a0001c0005t0061 a0001c0005t0062 a0001c0005t0081 a0001c0006t0001 a0001c0007t0030 a0001c0010t0006 a0002c0003t0018 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0003t0098 a0002c0003t0134 a0003c0008t0016 a0007c0014t0006 a0009c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0229 a0001c0001t0001g0230 others(184): Show a0001c0001t0001g0001 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0295 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0032 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0057 a0001c0001t0003g0184 a0001c0001t0005g0292 a0001c0001t0006g0046 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0058 a0001c0001t0008g0005 a0001c0001t0008g0297 a0001c0001t0008g0298 a0001c0001t0008g0299 a0001c0001t0008g0300 a0001c0001t0014g0018 a0001c0001t0014g0041 a0001c0001t0014g0051 a0001c0001t0014g0052 a0001c0001t0014g0096 a0001c0001t0015g0267 a0001c0001t0015g0268 a0001c0001t0015g0271 a0001c0001t0015g0279 a0001c0001t0016g0081 a0001c0001t0016g0082 a0001c0001t0019g0012 a0001c0001t0019g0025 a0001c0001t0019g0037 a0001c0001t0022g0028 a0001c0001t0022g0030 a0001c0001t0022g0059 a0001c0001t0023g0026 a0001c0001t0023g0029 a0001c0001t0023g0048 a0001c0001t0024g0003 a0001c0001t0024g0305 a0001c0001t0025g0066 a0001c0001t0025g0209 a0001c0001t0026g0094 a0001c0001t0026g0095 a0001c0001t0027g0236 a0001c0001t0027g0248 a0001c0001t0028g0265 a0001c0001t0028g0275 a0001c0001t0029g0247 a0001c0001t0029g0270 a0001c0001t0031g0074 a0001c0001t0031g0075 a0001c0001t0047g0031 a0001c0001t0047g0039 a0001c0001t0048g0036 a0001c0001t0048g0040 a0001c0001t0049g0034 a0001c0001t0049g0035 a0001c0001t0051g0006 a0001c0001t0051g0007 a0001c0001t0052g0245 a0001c0001t0054g0064 a0001c0001t0055g0093 a0001c0001t0056g0301 a0001c0001t0057g0068 a0001c0001t0058g0067 a0001c0001t0059g0255 a0001c0001t0060g0294 a0001c0001t0064g0293 a0001c0001t0065g0282 a0001c0001t0066g0281 a0001c0001t0067g0252 a0001c0001t0068g0258 a0001c0001t0069g0280 a0001c0001t0072g0222 a0001c0001t0073g0256 a0001c0001t0074g0083 a0001c0001t0075g0232 a0001c0001t0076g0269 a0001c0001t0077g0291 a0001c0001t0078g0076 a0001c0001t0079g0092 a0001c0001t0080g0080 a0001c0001t0083g0224 a0001c0001t0085g0008 a0001c0001t0089g0090 a0001c0001t0091g0009 a0001c0001t0097g0017 a0001c0001t0099g0038 a0001c0001t0100g0011 a0001c0001t0101g0016 a0001c0001t0102g0023 a0001c0001t0105g0056 a0001c0001t0113g0097 a0001c0001t0114g0027 a0001c0001t0115g0024 a0001c0001t0125g0044 a0001c0001t0127g0021 a0001c0001t0128g0049 a0001c0001t0129g0063 a0001c0001t0130g0033 a0001c0001t0131g0015 a0001c0001t0133g0062 a0001c0001t0135g0304 a0001c0002t0009g0085 a0001c0002t0009g0086 a0001c0002t0009g0087 a0001c0002t0009g0089 a0001c0002t0009g0216 a0001c0002t0032g0084 a0001c0002t0032g0088 a0001c0002t0033g0213 a0001c0002t0033g0219 a0001c0002t0084g0217 a0001c0002t0086g0221 a0001c0002t0087g0220 a0001c0002t0088g0215 a0001c0002t0090g0214 a0001c0002t0092g0211 a0001c0002t0093g0212 a0001c0002t0094g0218 a0001c0002t0095g0210 a0001c0002t0136g0306 a0001c0004t0063g0072 a0001c0004t0070g0071 a0001c0004t0071g0073 a0001c0005t0061g0069 a0001c0005t0062g0070 a0001c0005t0081g0091 a0001c0006t0001g0241 a0001c0006t0001g0261 a0001c0007t0030g0078 a0001c0007t0030g0079 a0001c0010t0006g0055 a0002c0003t0018g0100 a0002c0003t0018g0104 a0002c0003t0018g0105 a0002c0003t0034g0101 a0002c0003t0034g0102 a0002c0003t0035g0107 a0002c0003t0035g0108 a0002c0003t0036g0099 a0002c0003t0036g0106 a0002c0003t0098g0103 a0002c0003t0134g0111 a0003c0008t0016g0077 a0003c0008t0016g0223 a0007c0014t0006g0047 a0009c0012t0001g0249	190	310	0.6129	-330	c.110 others(19): Show c.1102+2559_1102+2888del		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	7/19						chr1	TogoVar
RNF213_chr17_80255852_80403794	80313878	GTGGAGGT others(323): Show GTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGT GGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGG AGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTG GTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATGGTGGT GGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGA TGGTGGAGGTACTGGAGGTGATGGTGGTGGTGTAGGTGATGGTGGAGGTG ATGGTGGTGGTGAAGGTGATGGTGGAGGTAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp1 HG02976.hp1 others(2): Show HG02647.hp1 HG02922.hp1 HG02976.hp1 HG03453.hp1 NA18906.hp1	a0020 a0021 a0050 others(1): Show a0020 a0021 a0050 a0088	a0020c0031 a0021c0032 a0050c0092 others(1): Show a0020c0031 a0021c0032 a0050c0092 a0088c0116	a0020c0031t0012 a0021c0032t0036 a0050c0092t0037 others(1): Show a0020c0031t0012 a0021c0032t0036 a0050c0092t0037 a0088c0116t0016	a0020c0031t0012g0026 a0021c0032t0036g0021 a0021c0032t0036g0022 others(2): Show a0020c0031t0012g0026 a0021c0032t0036g0021 a0021c0032t0036g0022 a0050c0092t0037g0279 a0088c0116t0016g0238	5	292	0.0171	-330	c.281 others(18): Show c.2811+719_2811+1048del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1077001	GGGGAGGC others(323): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTG AGGCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGA GGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGG GACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCTGTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	-330	c.-33 others(11): Show c.-3325_-2996del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2696		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078731	GACTCCGT others(323): Show GACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGA GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01109.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	324	0.0062	-330	c.-50 others(11): Show c.-5055_-4726del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4426		chr1	TogoVar
RPRD2_chr1_150359147_150481566	150411410	GAGATCGC others(323): Show GAGATCGCGCCACTGCACTCTAGCCTGGACAACAGAGCTAGACTGTCTCA AAAAAAAAAACAAAAAAAAAACGAAACAAACAAAAGAAGAAGGCAGTACA CTAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCCAAG GCAGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCCTGACCAACATG ATGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCGTGGTGAT GCGCACCCATAGTCCCAGTTACTCAGGAAGCTGAAGCAAGAGAATTGCTT GAACCTGGGAGGCGGAGGTTGCAGTGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01168.hp1 others(45): Show HG00099.hp1 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(12): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0045 a0003c0005t0005 a0003c0005t0013 a0003c0005t0022 a0003c0005t0030	a0001c0001t0005g0181 a0001c0001t0005g0183 a0001c0001t0005g0184 others(45): Show a0001c0001t0005g0181 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0191 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0007g0194 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0007g0200 a0001c0001t0007g0202 a0001c0001t0007g0203 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0009g0174 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0179 a0001c0001t0009g0180 a0001c0001t0009g0193 a0001c0001t0013g0040 a0001c0001t0013g0182 a0001c0001t0013g0190 a0001c0001t0017g0195 a0001c0001t0017g0196 a0001c0001t0017g0199 a0001c0001t0017g0201 a0001c0001t0023g0172 a0001c0001t0023g0176 a0001c0001t0028g0185 a0001c0001t0031g0175 a0001c0001t0032g0189 a0001c0001t0033g0173 a0001c0001t0045g0206 a0003c0005t0005g0207 a0003c0005t0005g0212 a0003c0005t0005g0214 a0003c0005t0013g0209 a0003c0005t0013g0211 a0003c0005t0022g0208 a0003c0005t0022g0210 a0003c0005t0030g0213	48	318	0.1509	-330	c.206 others(17): Show c.206-6156_206-5827del		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280967	CCCTCCTG others(323): Show CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGT CACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCAC CTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCT CCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCT CCTCAGCTACCCTGTCACCTCCCTCAGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01496.hp1 HG02004.hp2 others(15): Show HG00558.hp1 HG01496.hp1 HG02004.hp2 HG02015.hp1 HG02257.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03225.hp2 HG04184.hp2 NA18522.hp2 NA18747.hp1 NA18950.hp1 NA18966.hp2 NA18994.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0013	a0001c0013 a0001c0020 a0001c0021 others(8): Show a0001c0013 a0001c0020 a0001c0021 a0002c0002 a0002c0005 a0002c0014 a0002c0042 a0003c0001 a0005c0016 a0006c0015 a0013c0057	a0001c0013t0004 a0001c0013t0036 a0001c0020t0005 others(14): Show a0001c0013t0004 a0001c0013t0036 a0001c0020t0005 a0001c0020t0017 a0001c0021t0005 a0001c0021t0022 a0002c0002t0005 a0002c0002t0024 a0002c0005t0001 a0002c0005t0048 a0002c0014t0026 a0002c0042t0012 a0003c0001t0023 a0003c0001t0051 a0005c0016t0079 a0006c0015t0007 a0013c0057t0077	a0001c0013t0004g0083 a0001c0013t0004g0099 a0001c0013t0036g0098 others(15): Show a0001c0013t0004g0083 a0001c0013t0004g0099 a0001c0013t0036g0098 a0001c0020t0005g0026 a0001c0020t0017g0014 a0001c0021t0005g0076 a0001c0021t0022g0075 a0002c0002t0005g0034 a0002c0002t0024g0182 a0002c0005t0001g0185 a0002c0005t0048g0128 a0002c0014t0026g0235 a0002c0042t0012g0246 a0003c0001t0023g0109 a0003c0001t0051g0142 a0005c0016t0079g0132 a0006c0015t0007g0092 a0013c0057t0077g0149	18	280	0.0643	-330	c.484 others(18): Show c.484+9749_484+10078del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281104	TCAGTCAC others(323): Show TCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCA GCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCAC CCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCT TCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCT GTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCT GTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTC ACCTCCCTCAGCCATCCTCCTGTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0015 a0001c0004t0016g0015	1	280	0.0036	-330	c.484 others(17): Show c.484+9612_484+9941del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SLC44A5_chr1_75197129_75616114	75546180	TCAAATTC others(323): Show TCAAATTCAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCCGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00673.hp1 others(143): Show HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18964.hp1 NA18964.hp2 NA18977.hp1 NA18977.hp2 NA19005.hp1 NA19005.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0010 a0001c0004t0001 a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0007t0002 a0001c0008t0001 a0001c0009t0002 a0001c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(142): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0003g0024 a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0153 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0008g0035 a0001c0001t0008g0049 a0001c0001t0009g0002 a0001c0001t0011g0033 a0001c0001t0012g0011 a0001c0002t0001g0076 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0085 a0001c0002t0002g0092 a0001c0002t0002g0105 a0001c0002t0002g0134 a0001c0002t0002g0147 a0001c0002t0002g0152 a0001c0002t0004g0013 a0001c0002t0004g0016 a0001c0002t0004g0082 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0094 a0001c0003t0001g0096 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0113 a0001c0003t0001g0117 a0001c0003t0001g0120 a0001c0003t0001g0122 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0151 a0001c0003t0010g0114 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0044 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0001g0052 a0001c0004t0001g0116 a0001c0004t0001g0124 a0001c0004t0001g0145 a0001c0005t0001g0074 a0001c0005t0001g0097 a0001c0005t0005g0081 a0001c0005t0005g0154 a0001c0005t0005g0155 a0001c0005t0006g0066 a0001c0005t0007g0090 a0001c0005t0007g0131 a0001c0006t0001g0041 a0001c0006t0001g0067 a0001c0006t0001g0143 a0001c0006t0002g0063 a0001c0006t0002g0089 a0001c0006t0002g0095 a0001c0006t0004g0012 a0001c0007t0002g0065 a0001c0007t0002g0104 a0001c0007t0002g0107 a0001c0007t0002g0129 a0001c0007t0002g0132 a0001c0008t0001g0137 a0001c0009t0002g0009 a0001c0010t0001g0128	146	156	0.9359	-330	c.-69 others(17): Show c.-69-4994_-69-4665del		SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	1/23						chr1	TogoVar
SLC4A5_chr2_74211242_74348416	74284149	TTATTCCT others(323): Show TTATTCCTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(169): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0001c0014 a0003c0005 a0003c0006 a0003c0016 a0005c0012 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0017 a0001c0007t0004 a0001c0013t0003 a0001c0014t0001 a0003c0005t0001 a0003c0005t0002 a0003c0005t0006 a0003c0005t0012 a0003c0006t0001 a0003c0016t0005 a0005c0012t0002 a0007c0015t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0068 others(169): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0223 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0099 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0003g0032 a0001c0001t0003g0260 a0001c0001t0004g0157 a0001c0001t0004g0264 a0001c0001t0006g0013 a0001c0001t0006g0127 a0001c0001t0007g0016 a0001c0001t0007g0155 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0163 a0001c0001t0008g0017 a0001c0001t0008g0096 a0001c0001t0008g0100 a0001c0001t0008g0110 a0001c0001t0008g0183 a0001c0001t0008g0258 a0001c0001t0008g0263 a0001c0001t0009g0187 a0001c0001t0009g0189 a0001c0001t0010g0002 a0001c0001t0010g0278 a0001c0001t0010g0279 a0001c0001t0011g0103 a0001c0001t0011g0162 a0001c0001t0011g0190 a0001c0001t0012g0051 a0001c0001t0013g0018 a0001c0001t0013g0019 a0001c0001t0015g0101 a0001c0001t0015g0102 a0001c0001t0016g0003 a0001c0001t0018g0004 a0001c0001t0019g0161 a0001c0001t0020g0029 a0001c0001t0021g0261 a0001c0001t0023g0055 a0001c0001t0024g0141 a0001c0001t0026g0107 a0001c0001t0027g0010 a0001c0002t0001g0005 a0001c0002t0001g0021 a0001c0002t0001g0066 a0001c0002t0001g0083 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0001g0108 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0238 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0002g0073 a0001c0002t0002g0126 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0149 a0001c0003t0001g0028 a0001c0003t0001g0042 a0001c0003t0003g0007 a0001c0003t0003g0012 a0001c0003t0003g0071 a0001c0003t0003g0078 a0001c0003t0003g0144 a0001c0003t0003g0156 a0001c0003t0003g0224 a0001c0003t0003g0280 a0001c0003t0005g0175 a0001c0003t0005g0177 a0001c0003t0005g0178 a0001c0003t0005g0179 a0001c0003t0005g0180 a0001c0003t0005g0181 a0001c0003t0005g0182 a0001c0003t0017g0020 a0001c0007t0004g0006 a0001c0007t0004g0008 a0001c0013t0003g0153 a0001c0014t0001g0265 a0003c0005t0001g0070 a0003c0005t0001g0072 a0003c0005t0001g0077 a0003c0005t0001g0085 a0003c0005t0001g0088 a0003c0005t0001g0227 a0003c0005t0002g0252 a0003c0005t0006g0087 a0003c0005t0006g0281 a0003c0005t0012g0089 a0003c0006t0001g0076 a0003c0006t0001g0079 a0003c0006t0001g0241 a0003c0016t0005g0060 a0005c0012t0002g0041 a0007c0015t0001g0164	172	282	0.6099	-330	c.401 others(17): Show c.401+1294_401+1623del		SLC4A5	ENSG00000188687.18	transcript	ENST00000394019.7	protein_coding	8/30						chr2	TogoVar
SNTG2_chr2_945849_1372613	1167953	CAAGCCGC others(323): Show CAAGCCGCCCACAGACGGCAGAACTGAAGCCTACAGGCCGCCCACAGACG GCAGAACTGAAGCCTAGAAGCCGCCCACAGACGGCAGAACTGAAACCTAC AGGCCGCCCACAGACGGCAGAACTGAAACCTACAGGCCGCCCACAGACGG CAGTACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAACCTACA AGCCGCCCACAGATGGCAGAACTGAAGCCTAGAAGCTGCCCACAGACGGC AGAACTGAAGCCTACAGGCCGCCCACAGACGGCAGAACTGAAGCCTACAG GCCGCCCACAGACGGCAGAACTGAAGCCTAG	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18963.hp2 NA18970.hp1 others(1): Show HG02273.hp1 NA18963.hp2 NA18970.hp1 NA18984.hp1	a0006 a0009 a0006 a0009	a0006c0009 a0006c0010 a0009c0013 a0006c0009 a0006c0010 a0009c0013	a0006c0009t0001 a0006c0010t0001 a0009c0013t0001 a0006c0009t0001 a0006c0010t0001 a0009c0013t0001	a0006c0009t0001g0011 a0006c0009t0001g0121 a0006c0010t0001g0162 others(1): Show a0006c0009t0001g0011 a0006c0009t0001g0121 a0006c0010t0001g0162 a0009c0013t0001g0164	4	190	0.0211	-330	c.499 others(17): Show c.499+2376_499+2705del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7453736	CTGTGTGT others(323): Show CTGTGTGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTGTGTTG GGGTCAGGAGCTGTGTGTTAGGGTCAGGTGCTGTGTTGGGGCCAGGCACT GTGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGT CAGGAGGTGTGTGTTGGGTTCAGGTGCTGTGTTGGGGTCAGGCACTGTGT TGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGG TGCTGTGTGTTGGGGTCAGGAGCTCTGTGTTAGGGTCAGGTGCTGTGTTG GGGCCAGGCACTGTGTTGGGGTCAGGAGCTG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0076 a0001c0010t0076	a0001c0010t0076g0163 a0001c0010t0076g0163	1	168	0.0060	-330	c.548 others(19): Show c.548+57387_548+57716del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
TECRL_chr4_64272702_64414450	64333725	TGAGAGAA others(323): Show TGAGAGAATGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAGAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01099.hp1 others(24): Show HG00639.hp1 HG00642.hp1 HG01099.hp1 HG01167.hp2 HG01243.hp2 HG01358.hp1 HG01361.hp1 HG01884.hp2 HG02257.hp1 HG02280.hp2 HG02738.hp1 HG02818.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03710.hp2 NA18522.hp1 NA19030.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0032 a0002c0002t0004 a0005c0005t0003	a0001c0001t0001g0104 a0001c0001t0001g0189 a0001c0001t0003g0004 others(24): Show a0001c0001t0001g0104 a0001c0001t0001g0189 a0001c0001t0003g0004 a0001c0001t0003g0092 a0001c0001t0003g0114 a0001c0001t0004g0006 a0001c0001t0004g0059 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0207 a0001c0001t0004g0223 a0001c0001t0006g0097 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0008g0095 a0001c0001t0008g0096 a0001c0001t0015g0087 a0001c0001t0018g0009 a0001c0001t0019g0081 a0001c0001t0020g0038 a0001c0001t0032g0058 a0002c0002t0004g0260 a0002c0002t0004g0261 a0005c0005t0003g0091	27	272	0.0993	-330	c.287 others(17): Show c.287-5499_287-5170del		TECRL	ENSG00000205678.8	transcript	ENST00000381210.8	protein_coding	2/11						chr4	TogoVar
TRIP13_chr5_887884_923120	897348	TTCAGTGT others(323): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATTCAG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18943.hp2 HG02027.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	402	0.0050	-330	c.388 others(16): Show c.388+683_388+1012del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	897873	GCAGTCAG others(323): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	402	0.0025	-330	c.388 others(17): Show c.388+1211_388+1540del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898533	TCAGTCAG others(323): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03669.hp1 NA18990.hp2 others(1): Show HG00609.hp2 HG03669.hp1 NA18990.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071	4	402	0.0100	-330	c.389 others(17): Show c.389-1829_389-1500del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRPC6_chr11_101446564_101589007	101546041	TTTATAAC others(323): Show TTTATAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCACCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00741.hp1 others(98): Show HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01346.hp2 HG01515.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0019 a0002c0004 a0002c0022 a0003c0005 a0004c0006 a0004c0014 a0005c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0007t0002 a0001c0007t0013 a0001c0007t0020 a0001c0008t0002 a0001c0008t0009 a0001c0009t0002 a0001c0010t0002 a0001c0019t0002 a0002c0004t0002 a0002c0022t0001 a0003c0005t0002 a0003c0005t0008 a0004c0006t0001 a0004c0014t0002 a0005c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0017g0069 a0001c0001t0018g0068 a0001c0001t0019g0072 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0120 a0001c0002t0002g0126 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0002g0046 a0001c0003t0002g0053 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0138 a0001c0003t0012g0002 a0001c0007t0002g0056 a0001c0007t0002g0121 a0001c0007t0002g0125 a0001c0007t0013g0003 a0001c0007t0020g0163 a0001c0008t0002g0054 a0001c0008t0002g0066 a0001c0008t0009g0067 a0001c0009t0002g0018 a0001c0009t0002g0038 a0001c0010t0002g0042 a0001c0010t0002g0047 a0001c0010t0002g0049 a0001c0019t0002g0137 a0002c0004t0002g0139 a0002c0004t0002g0141 a0002c0004t0002g0142 a0002c0004t0002g0143 a0002c0004t0002g0144 a0002c0004t0002g0145 a0002c0004t0002g0146 a0002c0004t0002g0147 a0002c0004t0002g0148 a0002c0004t0002g0150 a0002c0004t0002g0156 a0002c0004t0002g0157 a0002c0022t0001g0149 a0003c0005t0002g0009 a0003c0005t0002g0019 a0003c0005t0002g0026 a0003c0005t0002g0039 a0003c0005t0008g0189 a0004c0006t0001g0140 a0004c0006t0001g0158 a0004c0006t0001g0159 a0004c0006t0001g0162 a0004c0014t0002g0160 a0004c0014t0002g0161 a0005c0016t0001g0020	101	252	0.4008	-330	c.170 others(19): Show c.170+36963_170+37292del		TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12						chr11	TogoVar
UBE2J2_chr1_1248912_1278854	1248971	GCGAGGGA others(323): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18981.hp2 NA19080.hp2 HG00408.hp2 NA18981.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0217 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0001g0217 a0001c0001t0006g0157 a0001c0001t0006g0160	3	324	0.0093	-330	c.59 others(11): Show c.5902_*6231del		UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding					4940		chr1	TogoVar
VCX2_chrX_8164944_8176267	8169101	CCTTCCTT others(323): Show CCTTCCTTCTTTCCTTTCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCT CTTCCCCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0013 a0009c0010t0002g0013	1	115	0.0087	-330	c.60 others(9): Show c.601_*930del		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					842		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466000	GTGGAAGA others(323): Show GTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCA GGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAAC CACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAG GTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCA GGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAAC CACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAG GTGGAGGAACCACTGAGTCAGGAGAGCGAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18945.hp1 NA19065.hp2 NA18945.hp1 NA19065.hp2	a0053 a0076 a0053 a0076	a0053c0067 a0076c0070 a0053c0067 a0076c0070	a0053c0067t0013 a0076c0070t0004 a0053c0067t0013 a0076c0070t0004	a0053c0067t0013g0002 a0076c0070t0004g0002 a0053c0067t0013g0002 a0076c0070t0004g0002	2	271	0.0074	-330	c.385 others(7): Show c.385_714del	p.Gln others(13): Show p.Gln129_Ser238del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	692/1175	385/741	129/246		INFO_REALIGN_3_PRIME	chrX	TogoVar
ACAP3_chr1_1287391_1312930	1289653	CCGTGTCC others(322): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGT CCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	295	0.0034	-329	c.35 others(11): Show c.3582_*3910del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2737		chr1	TogoVar
ACSM2B_chr16_20531226_20581367	20534856	TAAAGAAT others(322): Show TAAAGAATATTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGT AAACTATCGCAAGAATAAAAAACCAAACACCACATATTCTCACTCATAGG TGGGAATTGAACAATGAGGACACATGGACACAGGAAGGGGAACATCACAC TCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGAATTAGGAG ATATGCCTCATGCTAAATGACGAGTTAACGGGTGCAGCACACCAGCATGG CACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAA AACTTAAAGTATAATAATAATAATTAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG02559.hp1 HG02922.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0024 a0002c0003 a0005c0024	a0002c0003t0010 a0005c0024t0016 a0002c0003t0010 a0005c0024t0016	a0002c0003t0010g0083 a0005c0024t0016g0334 a0002c0003t0010g0083 a0005c0024t0016g0334	2	388	0.0052	-329	c.20 others(11): Show c.2073_*2401del		ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding					1369		chr16	TogoVar
ACVR1C_chr2_157521767_157633864	157576825	TTGAAATT others(322): Show TTGAAATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(115): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18949.hp1 NA18949.hp2 NA18970.hp2 NA18974.hp2 NA18988.hp1 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19062.hp2 NA19064.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19084.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0002c0003 a0002c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(29): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0002t0031 a0001c0002t0037 a0001c0007t0012 a0001c0007t0025 a0001c0010t0004 a0002c0003t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0013 a0002c0003t0014 a0002c0003t0017 a0002c0003t0020 a0002c0003t0026 a0002c0008t0002 a0002c0008t0027	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 others(114): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 a0001c0001t0007g0197 a0001c0001t0035g0142 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0208 a0001c0002t0003g0021 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0071 a0001c0002t0003g0093 a0001c0002t0003g0111 a0001c0002t0003g0115 a0001c0002t0003g0123 a0001c0002t0003g0133 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0122 a0001c0002t0004g0125 a0001c0002t0004g0130 a0001c0002t0004g0134 a0001c0002t0004g0135 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0002t0005g0033 a0001c0002t0005g0095 a0001c0002t0007g0001 a0001c0002t0007g0054 a0001c0002t0007g0065 a0001c0002t0007g0072 a0001c0002t0007g0140 a0001c0002t0015g0053 a0001c0002t0015g0141 a0001c0002t0016g0037 a0001c0002t0016g0038 a0001c0002t0018g0061 a0001c0002t0019g0091 a0001c0002t0023g0007 a0001c0002t0024g0108 a0001c0002t0031g0087 a0001c0002t0037g0070 a0001c0007t0012g0089 a0001c0007t0025g0084 a0001c0010t0004g0126 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0060 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0006g0081 a0002c0003t0006g0082 a0002c0003t0006g0092 a0002c0003t0006g0102 a0002c0003t0006g0103 a0002c0003t0006g0104 a0002c0003t0006g0109 a0002c0003t0008g0028 a0002c0003t0008g0080 a0002c0003t0008g0097 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0036 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0010g0031 a0002c0003t0010g0090 a0002c0003t0013g0050 a0002c0003t0014g0086 a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0020g0083 a0002c0003t0026g0107 a0002c0008t0002g0106 a0002c0008t0027g0105	118	216	0.5463	-329	c.304 others(19): Show c.304+10033_304+10361del		ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	2/8						chr2	TogoVar
ARHGAP8_chr22_44747575_44867784	44800533	CCTCCCCG others(322): Show CCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCC ATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCC CTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCA TGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCGTGTGAGGGGGTGCCTCT CCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTG TGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTC CCCGCAGCTGTCCGTGTGTGGGGGGCGCCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0314 a0006c0027t0001g0314	1	390	0.0026	-329	c.80- others(15): Show c.80-1527_80-1199del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ARK2N_chr18_46169034_46271992	46170713	GCCAGGTT others(322): Show GCCAGGTTGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp2 others(169): Show HG00099.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18984.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(22): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0002c0002t0001 a0002c0002t0017 a0002c0002t0021 a0002c0002t0024 a0002c0002t0030 a0003c0003t0013 a0004c0006t0012	a0001c0001t0003g0118 a0001c0001t0004g0028 a0001c0001t0004g0029 others(168): Show a0001c0001t0003g0118 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0050 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0273 a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0007g0317 a0001c0001t0009g0056 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0274 a0001c0001t0009g0275 a0001c0001t0012g0013 a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0013g0004 a0001c0001t0014g0005 a0001c0001t0014g0006 a0001c0001t0014g0007 a0001c0001t0015g0054 a0001c0001t0015g0212 a0001c0001t0016g0008 a0001c0001t0016g0009 a0001c0001t0018g0017 a0001c0001t0019g0272 a0001c0001t0020g0135 a0001c0001t0023g0049 a0001c0001t0025g0266 a0001c0001t0027g0043 a0001c0001t0031g0023 a0001c0001t0032g0265 a0002c0002t0001g0003 a0002c0002t0001g0022 a0002c0002t0001g0051 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0017g0208 a0002c0002t0017g0209 a0002c0002t0021g0284 a0002c0002t0024g0045 a0002c0002t0030g0215 a0003c0003t0013g0010 a0003c0003t0013g0011 a0003c0003t0013g0012 a0004c0006t0012g0016	172	320	0.5375	-329	c.-36 others(11): Show c.-3687_-3359del		ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding					3320		chr18	TogoVar
C11orf80_chr11_66739769_66848516	66760176	CCAGTGGC others(322): Show CCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCA GATTACCTAGGTCAGGAGTTCAAGACTGGTCAACATGGTGAATCCCCATC TCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATACCTATCTA TAGTCCTAGCTACTTGGTGGGGCTGAGGCAGGAGAATCCCTTGAACCCAG GAGGCAGAGGCTGCAGTGAGCCAAGATCATACCATTGCACTCCAGCCTGG GTGACAGAGTGAGAGACTCTGTCTCAAAAAAAAAAAAAGAAAACATACTG TGTATTAAAATGGCAACAACTGGCCAGGCA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02071.hp2 HG02602.hp1 others(3): Show HG01361.hp2 HG02071.hp2 HG02602.hp1 HG02738.hp1 HG03942.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0204 a0001c0001t0001g0231 a0001c0001t0001g0232 others(3): Show a0001c0001t0001g0204 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0011g0233	6	248	0.0242	-329	c.25+ others(15): Show c.25+1112_25+1440del		C11orf80	ENSG00000173715.19	transcript	ENST00000540737.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
CAMK2B_chr7_44212154_44330594	44227155	AGAGAGGT others(322): Show AGAGAGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAGGAGGGTGCAG GGGACAGAGGGGGATGTGGGGGACAGAGGGGAAGTGGAAGACAGAGGGGG TGTGGGGGACAGAAGGCGGTGTGGGGAACAGAGGGGGAGGTGGGGGACAG AGGAGAGTATGGGGGACAGAGGGGGTGTGGGGGACAGAAGGGGGTGTGGA AGACAGGAGGTGTGGGGGACAGACGGAGTGTGGGGGACAGAGGGAGAGTC TGGGGGACAGAGGGGGTGTGGGGGACAGGAGGGGGTGTGGAAGACAGAGG AAGTGTGGGGGACAGAAGGGGGTATGGGGG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18906.hp1 HG03654.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0144 a0001c0002t0001g0009 a0001c0002t0001g0144	2	242	0.0083	-329	c.146 others(17): Show c.1469-840_1469-512del		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227184	AGGGGACA others(322): Show AGGGGACAGAGGAGGGTGCAGGGGACAGAGGGGGATGTGGGGGACAGAGG GGAAGTGGAAGACAGAGGGGGTGTGGGGGACAGAAGGCGGTGTGGGGAAC AGAGGGGGAGGTGGGGGACAGAGGAGAGTATGGGGGACAGAGGGGGTGTG GGGGACAGAAGGGGGTGTGGAAGACAGGAGGTGTGGGGGACAGACGGAGT GTGGGGGACAGAGGGAGAGTCTGGGGGACAGAGGGGGTGTGGGGGACAGG AGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGGTATGGGG GGCAGGGGGTGGAGGACAGAGGAGGGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0166 a0001c0006t0007g0166	1	242	0.0041	-329	c.146 others(17): Show c.1469-869_1469-541del		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
DPP6_chr7_154047398_154899285	154657271	AGTGGGTG others(322): Show AGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAG GCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTGCGTGGGAGG AGATGCTCGAGTGGGTGGAGAGGCTGCGTTGGAGGAGGTGCTCATGGGTG GGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTGGAGAGGCTG CGTGGGAGGAGATGCTCGAGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGC TCATGGGTGGGTGGAGAGGCTGCGTGGGAGGAGGTGCTCATGGGTGGGTG GAGAGGCTGCGTGGGAGGAGGTGCTCATGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01952.hp1 others(2): Show HG00558.hp1 HG00673.hp1 HG01952.hp1 HG02280.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0016 a0001c0017 others(2): Show a0001c0003 a0001c0016 a0001c0017 a0002c0004 a0002c0013	a0001c0003t0007 a0001c0016t0013 a0001c0017t0020 others(2): Show a0001c0003t0007 a0001c0016t0013 a0001c0017t0020 a0002c0004t0006 a0002c0013t0018	a0001c0003t0007g0024 a0001c0016t0013g0014 a0001c0017t0020g0033 others(2): Show a0001c0003t0007g0024 a0001c0016t0013g0014 a0001c0017t0020g0033 a0002c0004t0006g0028 a0002c0013t0018g0026	5	38	0.1316	-329	c.681 others(19): Show c.681-11987_681-11659del		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 10000 hits)