Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEC62_chr3_169961807_170003373	169989288	C C	CCTAGGCT others(403): Show CCTAGGCTGGTCTGAAACTCCTGACTTCAAGTGATCCTCCAGCATTGGCC CCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCCAGCCATGTTTCA TAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCACGCCTGTAACTC CAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGTCAGGAGATCGAG GCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAA TTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCTACTTCGGAGGCT AAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGA GATACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTT CACCATGTTGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp1 HG03486.hp2 HG02145.hp2 HG02970.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0066 a0001c0001t0010g0072 a0001c0001t0010g0087 a0001c0001t0010g0066 a0001c0001t0010g0072 a0001c0001t0010g0087	3	336	0.0089	410	c.730 others(425): Show c.730+930_730+931insTAGGCTGGTCTGAAACTCCTGACTTCAAGT GATCCTCCAGCATTGGCCCCCCAAAGTGCTGGAATTATAAGATTGTCACC ACACCCAGCCATGTTTCATAGTTAAAAAGCAATATAGAGCTGGGCACAGT GGCTCACGCCTGTAACTCCAGCAATTTGGGAGGCCGAGGTGGGTGGATGA CAAGGTCAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCT CTACTAAAAATACAAAAATTAGCTGGGTTTCGTGGCGTGCGCCTGTAATC CCAGCTACTTCGGAGGCTAAGGCAGGAGAATGGCTTGAACCCGGGAGGCA GAGATTGCAGTGAGCTGAGATACCACCACACCTGGCTAATTTTTGTATTT TTAGTAGAGATGGGGTTTCACCATGTTGGC	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC62_chr3_169961807_170003373	169989290	C C	CAGGCTGA others(403): Show CAGGCTGATCTGAAACTCCTGACTTCAAGTGATCCTCCAGCATTGGCCCC CCAAAGTGCTGGAATTATAAGATTGTCACCACACCCAGCCATGTTTCATA GTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCACGCCTGTAACTCCA GCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGTCAGGAGATCGAGGC CATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATT AGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCTACTTCGGAGGCTAA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGA TACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCA CCATGTTGGCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA19077.hp1 NA19084.hp1 NA18963.hp2 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	3	336	0.0089	410	c.730 others(425): Show c.730+936_730+937insGATCTGAAACTCCTGACTTCAAGTGATCCT CCAGCATTGGCCCCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCC AGCCATGTTTCATAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCA CGCCTGTAACTCCAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGT CAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTA AAAATACAAAAATTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCT ACTTCGGAGGCTAAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATT GCAGTGAGCTGAGATACCACCACACCTGGCTAATTTTTGTATTTTTAGTA GAGATGGGTTTTCACCATGTTGGCTAGGCT	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC62_chr3_169961807_170003373	169989290	C C	CAGGCTGG others(403): Show CAGGCTGGTCTGAAACTCCTGACTTCAAGTGATCCTCCAGCATTGGCCCC CCAAAGTGCTGGAATTATAAGATTGTCACCACACCCAGCCATGTTTCATA GTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCACGCCTGTAACTCCA GCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGTCAGGAGATCGAGGC CATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATT AGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCTACTTCGGAGGCTAA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGA TACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCA CCATGTTGGCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp1 others(48): Show HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01243.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02257.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03831.hp2 HG03927.hp2 NA18940.hp2 NA18945.hp1 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18969.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19075.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0019 a0001c0001t0032 others(7): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0004 a0001c0002t0029 a0001c0002t0030 a0002c0004t0003	a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0139 others(22): Show a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0019g0150 a0001c0001t0032g0138 a0001c0001t0033g0068 a0001c0001t0034g0002 a0001c0001t0035g0002 a0001c0002t0004g0006 a0001c0002t0004g0030 a0001c0002t0004g0080 a0001c0002t0029g0006 a0001c0002t0030g0079 a0002c0004t0003g0002 a0002c0004t0003g0152	51	336	0.1518	410	c.730 others(425): Show c.730+936_730+937insGGTCTGAAACTCCTGACTTCAAGTGATCCT CCAGCATTGGCCCCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCC AGCCATGTTTCATAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCA CGCCTGTAACTCCAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGT CAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTA AAAATACAAAAATTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCT ACTTCGGAGGCTAAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATT GCAGTGAGCTGAGATACCACCACACCTGGCTAATTTTTGTATTTTTAGTA GAGATGGGGTTTCACCATGTTGGCTAGGCT	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC62_chr3_169961807_170003373	169989290	C C	CAGGCTGG others(403): Show CAGGCTGGTCTGAAACTCCTGACTTCAAGTGATCCTCCAGCATTGGCCCC CCAAAGTGCTGGAATTATAAGATTGTCACCACACCCAGCCATGTTTCATA GTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCACGCCTGTAACTCCA GCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGTCAGGAGATCGAGGC CATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATT AGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCTACTTCGGAGGCTAA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATTGCAGTGAGCTGAGA TACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCA CCATGTTGGCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00642.hp1 others(80): Show HG00140.hp1 HG00597.hp1 HG00642.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18985.hp1 NA18987.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19002.hp2 NA19043.hp2 NA19059.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0022 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 others(36): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0006g0008 a0001c0001t0006g0014 a0001c0001t0006g0054 a0001c0001t0007g0005 a0001c0001t0007g0082 a0001c0001t0007g0084 a0001c0001t0011g0076 a0001c0001t0011g0077 a0001c0001t0011g0088 a0001c0001t0012g0015 a0001c0001t0017g0027 a0001c0001t0022g0065 a0001c0001t0037g0032 a0001c0001t0038g0131 a0001c0001t0040g0074 a0001c0001t0041g0015	83	336	0.2470	410	c.730 others(425): Show c.730+936_730+937insGGTCTGAAACTCCTGACTTCAAGTGATCCT CCAGCATTGGCCCCCCAAAGTGCTGGAATTATAAGATTGTCACCACACCC AGCCATGTTTCATAGTTAAAAAGCAATATAGAGCTGGGCACAGTGGCTCA CGCCTGTAACTCCAGCAATTTGGGAGGCCGAGGTGGGTGGATGACAAGGT CAGGAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTA AAAATACAAAAATTAGCTGGGTTTCGTGGCGTGCGCCTGTAATCCCAGCT ACTTCGGAGGCTAAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGATT GCAGTGAGCTGAGATACCACCACACCTGGCTAATTTTTGTATTTTTAGTA GAGATGGGTTTTCACCATGTTGGCTAGGCT	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(403): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCC CAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTAAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGG CCCCCCTGCCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0360 a0002c0002t0003g0360	1	370	0.0027	410	c.284 others(429): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SKI_chr1_2223319_2315213	2281178	G G	GGACAGGC others(403): Show GGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGAC GCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG AGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG GCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAG ACACGTGAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0048 a0001c0010t0048	a0001c0010t0048g0052 a0001c0010t0048g0052	1	330	0.0030	410	c.970 others(429): Show c.970-21791_970-21790insCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAAGACAGG CGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC GCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGA TCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281703	C C	CGGCGGCG others(403): Show CGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGT GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC TTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACA GGCGGCGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGA TCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAG AGAGCGGACACCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTG AGAAGACAGGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	330	0.0061	410	c.970 others(429): Show c.970-21273_970-21272insCGGCGGAGATCTTCAGAGAGAGGATG CCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGA AGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGA GAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGA CGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA GAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACA GGTGGTGGCGGAGATCTTCAGAGAGCGGACACCCGAGAGGACAGGCGGCG GCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGA TCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281918	C C	CGGCGGCG others(403): Show CGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGAGGAAGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGAC GCCCGAGAGGACAGGCGGCGGCGGTGATCTTCAGAGAGCGGACGCCCGAG AGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAG GCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGG TGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT CTTCATAGAGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	330	0.0030	410	c.970 others(429): Show c.970-21058_970-21057insCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGA AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGTGATC TTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAG AGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGAT GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAG AAGACAGGCGGTGGCGGAGATCTTCATAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79920465	C C	CGGAACCG others(403): Show CGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGTGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGA CGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACGGAACCGAGTGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTC AGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGAC GGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGA GAGGTCAGGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCA GTGAGGAGAGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	352	0.0028	410	c.392 others(427): Show c.392-1066_392-1065insTCTCTCCTCACTGACCCTGACCTCTCCC TCGGTTCCGTCTCTCCCCACTGACCCTGACCTCTCCCTCGGTTCCTGTCT CTCCCCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACC CTGACCTCTCCCTCGGTTCCGTCTCTCCCCACTGACCCTGACCTCTCCCT CGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCACTCGGTTCCGTCTC TCCTCACTGACCCTGACCTCTCCCTCGGTTCCGTCTCTCCCCACTGACCC TGACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCACT CGGTTCCGTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTC TCCTCACTGACCTTGACCTCTCACTCGGTTCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A3_chr5_1387794_1450440	1422412	G G	GGTGCTGC others(403): Show GGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAC GCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTAC CCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAG TGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCACGC TGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTACCC ACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTG CTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTG CTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCAC CGCTGCCCACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0248 a0001c0008t0001g0248	1	373	0.0027	410	c.654 others(425): Show c.654-399_654-398insTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTA CCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGG CAGCACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACCGTGGG CAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACC CAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCA GCACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCAC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422441	G G	GCTGCCCA others(403): Show GCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGT GCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGC TGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGC TGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGC TGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTG GGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTG CCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTG CCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTG GGTGCCCACCA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	373	0.0027	410	c.654 others(425): Show c.654-428_654-427insTGGTGGGCACCCAGCAGCGTGGGCAGCACT GTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGT GGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCA CCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACT GGGCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGG GCACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGGTGGGCACCCAGCACC GTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGG GCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGC ACCCAGCAGCGTGGGCAGCACTGTGGGCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(403): Show ATTATATATAAAATATATATATTATATTATATATAAAATATATATATTAT ATAATATATATATAAAATATATATTATATAATATATATAAAATATATATA TTATATAATATATATATAAAATATATATATTATATAATATATATATAAAA TATATATATTATATATTATATAATATATATATAAAATATATATAATATAT AATATATGTAATATTATATATATTATATATTATATATATTATATATTATA TATATTATATATAATATATATTATATATTATATATATTATATATAATATA TATTATATATTATATATATTATATATAATATATTATATATAATATATATA ATATATTATATATAATATATATAATATATTATATATATTATATATAATAT ATTATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18991.hp2 NA18965.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0101 a0001c0001t0003g0102	2	190	0.0105	410	c.151 others(429): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATT ATATATAAAATATATATATTATATAATATATATATAAAATATATATTATA TAATATATATAAAATATATATATTATATAATATATATATAAAATATATAT ATTATATAATATATATATAAAATATATATATTATATATTATATAATATAT ATATAAAATATATATAATATATAATATATGTAATATTATATATATTATAT ATTATATATATTATATATTATATATATTATATATAATATATATTATATAT TATATATATTATATATAATATATATTATATATTATATATATTATATATAA TATATTATATATAATATATATAATATATTATATATAATATATATAATATA TTATATATATTATATATAATATATTATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMOC2_chr6_168436184_168672992	168654692	C C	CCAGATGT others(403): Show CCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTT AGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCA CCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTG CACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGC TCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAG ATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGA ACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAA CCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACC TGAGCTCCAAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	180	0.0056	410	c.128 others(429): Show c.1285+1873_1285+1874insTCAGATGTTAGGAACTCACCAACCCT GCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAG CTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCA GATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGG AACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCA ACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCAC CTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCC AACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATG TTAGGAACTCACCAACCCTGCACCTGAGCTCCAA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(403): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGG GAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGG AGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGG GGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGG AGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGG GAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGG GGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	251	0.0040	410	c.34 others(419): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTC CCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(403): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGG GGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGG GGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	422	0.0024	410	c.64 others(421): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCC CAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGC AACTCCACCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SUCLG2_chr3_67369719_67659612	67444510	T T	TGGGGGGG others(403): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA CCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18946.hp1 HG02922.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0036 a0001c0001t0017g0175 a0001c0001t0001g0036 a0001c0001t0017g0175	2	280	0.0071	410	c.106 others(431): Show c.1063-43660_1063-43659insCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGCGGGCTGAC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444520	A A	GGCCCCCC others(403): Show GGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG TGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAG CCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCGCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0031 a0003c0003t0012g0031	1	280	0.0036	410	c.106 others(431): Show c.1063-43669_1063-43668insGACCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGC GGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637589	A A	AATATATG others(403): Show AATATATGATTATAAAATATAATCATATATAATATATGATTATAAAATAT AATCATATATAATATATGATTATAAAATATAATCATATATAATATATGAT TATAAAATATAATCATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATTATATATGATTATAAAATAT AATTATATATATTATATATGATTATAAAATATAATTATATATTATATATG ATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 NA18961.hp2 HG01993.hp1 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0087 a0001c0002t0002g0061 a0001c0002t0002g0087	2	268	0.0075	410	c.74 others(421): Show c.7434_*7435insATATATGATTATAAAATATAATCATATATAATAT ATGATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCA TATATAATATATGATTATAAAATATAATCATATATTATATATGATTATAA AATATAATTATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATATTATATATGATTATAAAATATAAT TATATATTATATATGATTATAAAATATAATTATATATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4055		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637589	A A	AATATATG others(403): Show AATATATGATTATAAAATATAATCATATATAATATATGATTATAAAATAT AATCATATATAATATATGATTATAAAATATAATCATATATAATATATTAT TATAAAATATAATCATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATTATATATGATTATAAAATAT AATTATATATATTATATATGATTATAAAATATAATTATATATTATATATG ATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	268	0.0037	410	c.74 others(421): Show c.7434_*7435insATATATGATTATAAAATATAATCATATATAATAT ATGATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCA TATATAATATATTATTATAAAATATAATCATATATTATATATGATTATAA AATATAATTATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATATTATATATGATTATAAAATATAAT TATATATTATATATGATTATAAAATATAATTATATATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4055		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(403): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGA GGGAGGGGGGAGAGAGGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGG GGAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAG AGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0014 a0001c0002t0045g0014	1	276	0.0036	410	c.-18 others(429): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC TCCCTCCCCCTCTCCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCTCCCCCCCCTCTCTCCCCCCCCCCCTCTCTCCCCCCTCCCCCTCTCTC CCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGGAGGGG others(403): Show GGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGGAGAGAGGGGGAG GGGGGAGAGAGGGGGGGGGAGAGAGGGGGGGGAGGGGGGAGAGAGGGGGA GGGAGGGGGGAGAGAGGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGG GAGAGAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGG AGAGAGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGAGGGAGGGGGGGAGAGAGAGGGGGAGGGAGG GGGGAGAGAGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG GGAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGG AGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	276	0.0036	410	c.-18 others(429): Show c.-18+37479_-18+37480insTCTCTCTCTCTCCCTCCCTCCCTCCC TCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCCTCCCTCCCCC TCTCTCTCCCCCCTCCCTCCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCCTCTCTCTCCCCCCTCCCTCCCT CCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCC CTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCTCCCCCCCCTCTCTCCCCCCCCCTCTCTCCCCCCTCCCCCTCTCTCCC CCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYTL3_chr6_158645054_158769871	158704814	A A	AGTGACAG others(403): Show AGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCTGGGGAC AGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGG CAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGG GCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCGG GGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCG GGGCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAGGGACCT GGGGACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGAC CCAGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGA CCCAGGGCAGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp2 HG03041.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0013 a0001c0001t0001 a0003c0004t0013	a0001c0001t0001g0046 a0003c0004t0013g0019 a0001c0001t0001g0046 a0003c0004t0013g0019	2	292	0.0069	410	c.395 others(427): Show c.395-2374_395-2373insTGGGGACAGGGTGACAGTGAGGGCTGTA AGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGGCTGT AAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGGCTG TAAGGCCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGAGGGCT GTAAGGCCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGAGGGC TATAAGGCCACATAGGGCAGGAGGGACCTGGGGACAGGGTGACAGTGAGG GCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAG GGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGA GGGCTGTAAGGCCACATAGGGCAGGAGGGACC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(403): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGG GGAGGGAGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGC GGCGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	314	0.0032	410	c.309 others(429): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCCCCCATGCCCTCCCT CCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCG CCCTCTCCCTCCCCCCACACCCTCCCTCCCCCTCCACGCCCTCCCTCCCC CCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCGCCTGCTGCACCCT CCCTCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCG CCCCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTC CCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCT CCCTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	47128215	C C	CCCATCCT others(403): Show CCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCC CCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCC TACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCC CCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCC CACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCA CCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCC CTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCT CCACCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCACCCCACC CATCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02258.hp1 HG02723.hp1 others(2): Show HG00642.hp2 HG02258.hp1 HG02723.hp1 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0047 a0001c0001t0001g0090 a0001c0001t0002g0012 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0090 a0001c0001t0002g0012 a0001c0001t0004g0053 a0001c0001t0008g0044	5	112	0.0446	410	c.142 others(431): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC TCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACC CCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCA TCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCC CCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCAC CCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCTCCTCCGCCCC ACCCACCACCCCTCCACCCCACCCATCCCCCCTTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1627841	C C	CGGGGTGA others(403): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACA GCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGCAGAACTCATGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	352	0.0028	410	c.299 others(425): Show c.299-416_299-415insTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCATGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCCTGTGAGC TCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCACCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628871	C C	CGGGGTGA others(403): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGG GCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAG CAGAGCTCACG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	352	0.0028	410	c.299 others(427): Show c.299-1446_299-1445insCGTGAGCTCTGCTGTCCCCTTCCCGCCT CATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629080	G G	GGTGGGAA others(403): Show GGTGGGAAGCGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACA GCAGAGCTCATGGGGATGGGGAGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGG GGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGCGGGAAGGG GACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACG GGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0103 a0001c0004t0008g0103	1	352	0.0028	410	c.299 others(427): Show c.299-1655_299-1654insTCCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCC CTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGT CCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCTCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCTC ATCCCCTGTGAGCTCTGCTGTCCGCTTCCCAC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(403): Show CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCTACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCACCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTC ACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAG TCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCA TCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCAC ATCAGGCCCCA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	392	0.0026	410	c.228 others(429): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTAG others(403): Show GGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGG CAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCA GGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	466	0.0022	410	c.47 others(421): Show c.4712_*4713insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCT GGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATA ATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(403): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGAACGAAAGA GTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGGAGAGAGGAAGGA AGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCAAGGA AGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAAGGAGGAAGGA AGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAA GGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAGCGAGGGA GGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00735.hp1 others(19): Show HG00544.hp2 HG00558.hp2 HG00735.hp1 HG02109.hp2 HG02738.hp1 HG02965.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 NA18939.hp1 NA18951.hp1 NA18959.hp1 NA18970.hp1 NA18971.hp1 NA19030.hp1 NA19068.hp2 NA19070.hp1 NA19082.hp1 NA19085.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0003 a0002c0006t0003	a0001c0001t0001g0157 a0001c0001t0001g0227 a0001c0001t0001g0253 others(19): Show a0001c0001t0001g0157 a0001c0001t0001g0227 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0153 a0001c0001t0003g0150 a0001c0001t0005g0252 a0001c0002t0001g0226 a0001c0002t0002g0124 a0001c0002t0002g0145 a0001c0002t0002g0152 a0001c0002t0002g0166 a0001c0002t0002g0250 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0259 a0001c0002t0005g0154 a0001c0003t0003g0011 a0002c0006t0003g0012 a0002c0006t0003g0013	22	268	0.0821	410	c.30+ others(427): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAA AAGGAACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGG GAGAGAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAG GAAAGAGCAAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAG GAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGG AAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGA AAAGAGCGAGGGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097539	A A	ATGTGTGT others(403): Show ATGTGTGTATATACATATATACATATACACACATGTGTGTATATACATAT ATACATATACACACATGTGTGTGTATATACATATACACGCGTGCGTATAT ACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATAT ACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGC GTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCGT ATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTAT ATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATAT ATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATAT ACATATACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	334	0.0030	410	c.-47 others(421): Show c.-4759_-4758insCGTGTATATGTATATATACGCACGCGTGTATATG TATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTA TATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATA TATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATA CGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACG CGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTA TATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTA TATACACACACATGTGTGTATATGTATATATGTATATACACACATGTGTG TATATGTATATATGTATATACACACA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4733		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097565	A A	ATGTGTGT others(403): Show ATGTGTGTATATACATATATACATATACACACATGTGTGTATATATACAT ATACACACAGGTGTGCGTATATACATATACACGCGTGCGTATATACATAT ACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGC GTGCGTATATACATATACACGCGTGCGTATATACACATATACACGCGTGC GTATATACACATATACACGCGTGCGTATATACACATATACACGCGTGCGT ATATACACATATACACGCGTGCGTATATACACATATACACGCGTGCGTAT ATACACATATACACGCGTGCGTATATACACATATACACGCGTGCGTATAT ACACATATACACGCGTGCGTATATACACATATACACGCGTGCGTATATAC ACATATACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	334	0.0030	410	c.-47 others(421): Show c.-4785_-4784insCGTGTATATGTGTATATACGCACGCGTGTATATG TGTATATACGCACGCGTGTATATGTGTATATACGCACGCGTGTATATGTG TATATACGCACGCGTGTATATGTGTATATACGCACGCGTGTATATGTGTA TATACGCACGCGTGTATATGTGTATATACGCACGCGTGTATATGTGTATA TACGCACGCGTGTATATGTGTATATACGCACGCGTGTATATGTGTATATA CGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACG CGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTA TATGTATATACGCACACCTGTGTGTATATGTATATATACACACATGTGTG TATATGTATATATGTATATACACACA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4759		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097565	A A	ATGTGTGT others(403): Show ATGTGTGTGTATATACATATATACATATACACACATGTGTGTGTATATAC ATATACACACATGTGTGTGTATATACATATACACGCGTGCGTATATACAT ATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACAC GCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTGC GTATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGT ATATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTAT ATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATAT ATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATAT ACATATACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02735.hp1 HG00140.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0122 a0001c0001t0002g0050 a0001c0001t0002g0122	2	334	0.0060	410	c.-47 others(421): Show c.-4785_-4784insCGTGTATATGTATATATACGCACGCGTGTATATG TATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTA TATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATA TATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATA TACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATACG CACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGCG TGTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATA TGTATATACACACACATGTGTGTATATGTATATACACACACATGTGTGTA TATGTATATATGTATATACACACACA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4759		chr20	TogoVar
TRPM7_chr15_50552158_50691797	50564248	A A	AAAAATAA others(403): Show AAAAATAAAATAAAATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAAAATAACATAAAATAACATAAAATAACATAAAA TAACATAAAATAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAACATAAAATAACATAAAATAACATAAAATAACATAAAA TAACATAACATAAAATAACATAACATAAAATAACATAACATAAAATAACA TAACATAAAATAACATAACATAAAATAACATAACATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAACATAAAATAACA TAACATAAAATAACATAACATAAAATAACATAACATAAAATAACATAAAA TAACATAACAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18960.hp1 NA18939.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0012 a0002c0003t0003 a0002c0003t0012	a0002c0003t0003g0283 a0002c0003t0012g0288 a0002c0003t0003g0283 a0002c0003t0012g0288	2	352	0.0057	410	c.546 others(429): Show c.5468-2441_5468-2440insATGTTATGTTATTTTATGTTATTTTA TGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TGTTATGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTA TGTTATTTTATGTTATGTTATTTTATGTTATGTTATTTTATGTTATTTTA TGTTATTTTATGTTATTTTATGTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTA TGTTATTTTATGTTATTTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATTTTATTTTATTTT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TSNARE1_chr8_142207080_142408182	142242243	T T	TGCCGTAT others(403): Show TGCCGTATACAACAATCAACTCAAAATGGATGGAAGACCGACATGTGAGA CCTAAAACTCTAAAACTACAATCTCCATCTCATGCCGTATACAACAATCA ACTCAAAATGGATGGAAGACCGACATGTGAGACCTAAAACTCTAAAACTA CGATCTCCATCTCACGCCATATACAACAATCAACTCAAAATGGATGGAAG ACTGACATGTGAGACCTAAAACTCTAAAACTACGATCTCCATCTCATGCC ATATACAACAATCAACTCAAAATGGATGGAAGACCGACATGTGAGACCTA AAACTCTAAAACTATGATCTCCATCTCACGCCATATACAACAATCAACTC AAAATGGATGGAAGACCGACATGTGAGATCTAAAACTCTAAAACTACAAT CTCCATCTCAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	238	0.0042	410	c.144 others(431): Show c.1447-12665_1447-12664insGTGAGATGGAGATTGTAGTTTTAG AGTTTTAGATCTCACATGTCGGTCTTCCATCCATTTTGAGTTGATTGTTG TATATGGCGTGAGATGGAGATCATAGTTTTAGAGTTTTAGGTCTCACATG TCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATATGGCATGAGATGGA GATCGTAGTTTTAGAGTTTTAGGTCTCACATGTCAGTCTTCCATCCATTT TGAGTTGATTGTTGTATATGGCGTGAGATGGAGATCGTAGTTTTAGAGTT TTAGGTCTCACATGTCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATA CGGCATGAGATGGAGATTGTAGTTTTAGAGTTTTAGGTCTCACATGTCGG TCTTCCATCCATTTTGAGTTGATTGTTGTATACGGC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142261001	T T	TGGGGAGG others(403): Show TGGGGAGGGAGGAGAGAGGGAGGAGAGAGACAGGAGGGAGGAAGGGAGGA GGGAAGCAGGAGGGAAGGAGAAAAGAGGGAGGAGGAGGGAGGGTGAGGGA GGGGAGAGGGAGGGAGGGAGGAGAGAGGGAGGAAGGGAGGAGAGAGGGAG GAAGGGAGGAGAGAGGGAGGAAGGGAGGAGGGAAGCAGGAGGGAGGGAGG AGAGGAAGAAGGAGGAGGGAGGCAGCAGAAAGGGAGGTAGGAGGAAAGGA GGAGAGAGGGAGAAGGGAGGGAGGAGACAGGGAGGGAGAGAGGGAGGGAG GAAGAAGGGAAGGAGGAGAGAGGGAAGAGGGAGGAGAGAAGGAGGAGGGA GGAAGGAAAGAGGGAGGGAGAAAGGTAGGAGGACGGGAGGAGAGAGGGAG GGAGGAGGGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0225	1	238	0.0042	410	c.144 others(431): Show c.1446+13779_1446+13780insCTCCCTCCTCCCTCCCTCTCTCCT CCCGTCCTCCTACCTTTCTCCCTCCCTCTTTCCTTCCTCCCTCCTCCTTC TCTCCTCCCTCTTCCCTCTCTCCTCCTTCCCTTCTTCCTCCCTCCCTCTC TCCCTCCCTGTCTCCTCCCTCCCTTCTCCCTCTCTCCTCCTTTCCTCCTA CCTCCCTTTCTGCTGCCTCCCTCCTCCTTCTTCCTCTCCTCCCTCCCTCC TGCTTCCCTCCTCCCTTCCTCCCTCTCTCCTCCCTTCCTCCCTCTCTCCT CCCTTCCTCCCTCTCTCCTCCCTCCCTCCCTCTCCCCTCCCTCACCCTCC CTCCTCCTCCCTCTTTTCTCCTTCCCTCCTGCTTCCCTCCTCCCTTCCTC CCTCCTGTCTCTCTCCTCCCTCTCTCCTCCCTCCCC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(403): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	334	0.0030	410	c.657 others(425): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(403): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02717.hp2 HG03704.hp1 others(2): Show HG00609.hp1 HG02717.hp2 HG03704.hp1 NA18971.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0215 a0001c0001t0001g0216 others(2): Show a0001c0001t0001g0089 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218	5	334	0.0150	410	c.657 others(425): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
UCN3_chr10_5359966_5379692	5370525	G G	GCGTGTGT others(403): Show GCGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGT GTGTATGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGC GTGTGTATATGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTATATGT GTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTGTGTAT GTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATATGTGT GTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATAT GTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGT GTATGTGTGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTAT GCGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0397 a0001c0002t0005g0397	1	468	0.0021	410	c.-6- others(425): Show c.-6-3190_-6-3189insCGTGTGTATATGTGTGTGTGTATGTGTGTG TGTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTG TATGTGTGTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTG TGTATATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATATGTG TGTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTG TATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTATG TGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTATA TGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTGTATGCGTGTGTATGCG TGTGTGTATGTGTGTGTATGCGTGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(403): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATATTTATGTAATATATAATATTTATATATATTT ATGTAATATATAATATTTATATATTATATTTATGTAATATATATTTATAT ATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATA TAATATATATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18944.hp1 NA19074.hp2 HG02965.hp2 NA18944.hp1 NA19074.hp2	a0002 a0003 a0002 a0003	a0002c0008 a0003c0013 a0002c0008 a0003c0013	a0002c0008t0002 a0003c0013t0009 a0002c0008t0002 a0003c0013t0009	a0002c0008t0002g0052 a0003c0013t0009g0128 a0003c0013t0009g0133 a0002c0008t0002g0052 a0003c0013t0009g0128 a0003c0013t0009g0133	3	204	0.0147	410	c.213 others(429): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATATATT ACATAAATATAATATATAAATATTATATATTACATAAATATATATAAATA TTATATATTACATAAATATATATAAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAATATATATTATATATTACATAAATATAATATATAATATAT ATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(403): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATA TTTATGTAATATATAATATTTATATATATTTATGTAATATATAATATTTA TATATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATA TAATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0034 a0002c0017t0002g0034	1	204	0.0049	410	c.213 others(429): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATATATAAATATTATATATT ACATAAATATATATAAATATTATATATTACATAAATATATATAAATATTA TATATTACATAAATATAATATATAAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAATATATATTATATATTACATAAATATAATATATAATATAT ATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(403): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATA TAATATATATTATATATTATATTTATGTAATATATAATATTTATATATTA TATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAAT ATTTATATATTATATTTATGTAATATATAATATTTATATATTATATTTAT GTAATATATAATATTTATATATTATATTTATGTAATATATAATATTTATA TATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATA TTTATATATTATATTTATGTAATATATATTTATATATTATATTTATGTAA TATATAATATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0002 a0002c0043t0002	a0002c0043t0002g0012 a0002c0043t0002g0012	1	204	0.0049	410	c.213 others(429): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATATATTACATAAATATAATATATAAATATTATATATTACAT AAATATATATAAATATTATATATTACATAAATATATATAAATATTATATA TTACATAAATATAATATATAAATATTATATATTACATAAATATAATATAT AAATATTATATATTACATAAATATAATATATAAATATTATATATTACATA AATATAATATATAAATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATAATATATAATATATATTATATATTACATAAATA TAATATATAATATATATTATATATTACATAAATATAATATATAAATATAT ATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UVSSA_chr4_1342208_1393049	1357014	C C	CGGGGCTG others(403): Show CGGGGCTGATGGGTGGCATGGTCTGGTCTCATCAGGCCTGGGCCCCTCCA GCTGGTTATTGGTGAGGGTCCATAGAGCAGAGCGGGGCTGATGGGTGGCA TGGTCTGGTCTCATCAGGCCTGGGCCCCTCCAGCTGGTTATTGGTGAGGG TCCATAGAGCAGAGGGGGGCTGATGGGTGGCATGGTCTGGTCTCATCAGG CCTGGGCCCCTCCAGCTGGTTATTGGTGAGGGTCCATAGAGCAGAGCGGG GCTGATGGGTGGCATGGTCTGGTCTCATCAGGCCTGGGCCCCTCCAGCTG GTTATTGGTGAGGGTCCATAGAGCAGAGCGGGGCTGATGGGTGGCATGGT CTGGTCTCATCAGGCCTGGGCCCCTCCAGCTGGTTATTGGTGAGGGTCCA TAGAGCAGAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(56): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02004.hp1 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG03017.hp1 HG03654.hp1 HG03927.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18980.hp1 NA18986.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19085.hp2 NA20129.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0015 a0021	a0001c0003 a0001c0005 a0003c0013 others(4): Show a0001c0003 a0001c0005 a0003c0013 a0003c0014 a0005c0008 a0015c0029 a0021c0022	a0001c0003t0032 a0001c0005t0003 a0001c0005t0017 others(12): Show a0001c0003t0032 a0001c0005t0003 a0001c0005t0017 a0001c0005t0018 a0001c0005t0022 a0001c0005t0024 a0001c0005t0027 a0001c0005t0029 a0001c0005t0030 a0003c0013t0012 a0003c0014t0028 a0005c0008t0003 a0005c0008t0031 a0015c0029t0003 a0021c0022t0003	a0001c0003t0032g0303 a0001c0005t0003g0025 a0001c0005t0003g0026 others(50): Show a0001c0003t0032g0303 a0001c0005t0003g0025 a0001c0005t0003g0026 a0001c0005t0003g0027 a0001c0005t0003g0028 a0001c0005t0003g0284 a0001c0005t0003g0287 a0001c0005t0003g0290 a0001c0005t0003g0291 a0001c0005t0003g0292 a0001c0005t0003g0293 a0001c0005t0003g0294 a0001c0005t0003g0296 a0001c0005t0003g0297 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0301 a0001c0005t0003g0304 a0001c0005t0003g0306 a0001c0005t0003g0307 a0001c0005t0003g0308 a0001c0005t0003g0309 a0001c0005t0003g0310 a0001c0005t0003g0311 a0001c0005t0003g0313 a0001c0005t0003g0314 a0001c0005t0003g0315 a0001c0005t0003g0317 a0001c0005t0003g0318 a0001c0005t0003g0319 a0001c0005t0003g0323 a0001c0005t0003g0324 a0001c0005t0003g0325 a0001c0005t0003g0327 a0001c0005t0003g0328 a0001c0005t0003g0331 a0001c0005t0017g0289 a0001c0005t0017g0329 a0001c0005t0018g0316 a0001c0005t0018g0330 a0001c0005t0022g0286 a0001c0005t0024g0024 a0001c0005t0027g0320 a0001c0005t0029g0302 a0001c0005t0030g0285 a0003c0013t0012g0321 a0003c0013t0012g0322 a0003c0014t0028g0295 a0005c0008t0003g0029 a0005c0008t0003g0326 a0005c0008t0031g0332 a0015c0029t0003g0305 a0021c0022t0003g0300	59	400	0.1475	410	c.117 others(429): Show c.1176+1932_1176+1933insGGGGGCTGATGGGTGGCATGGTCTGG TCTCATCAGGCCTGGGCCCCTCCAGCTGGTTATTGGTGAGGGTCCATAGA GCAGAGCGGGGCTGATGGGTGGCATGGTCTGGTCTCATCAGGCCTGGGCC CCTCCAGCTGGTTATTGGTGAGGGTCCATAGAGCAGAGCGGGGCTGATGG GTGGCATGGTCTGGTCTCATCAGGCCTGGGCCCCTCCAGCTGGTTATTGG TGAGGGTCCATAGAGCAGAGGGGGGCTGATGGGTGGCATGGTCTGGTCTC ATCAGGCCTGGGCCCCTCCAGCTGGTTATTGGTGAGGGTCCATAGAGCAG AGCGGGGCTGATGGGTGGCATGGTCTGGTCTCATCAGGCCTGGGCCCCTC CAGCTGGTTATTGGTGAGGGTCCATAGAGCAGAG	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
UVSSA_chr4_1342208_1393049	1357143	C C	CCAGCTGG others(403): Show CCAGCTGGTTATTGGTGAGGGTCCATAGAGCAGAGGGGGGCTGATGGGTG GCATGGTCTGGTCTCATCAGGCCTGGGCCCCTCCAGCTGGTTATTGGTGA GGGTCCATAGAGCAGAGCGGGGCTGATGGGTGGCATGGTCTGGTCTCATC AGGCCTGGGCCCCTCCAGCTGGTTATTGGTGAGGGTCCATAGAAGCAGAG CGGGGCTGATGGGTGGCATGGTCTGGTCTCATCAGGCCTGGCCCCTCCAG CTGGTTATTGGTGAGGGTCCATAGAGCAGAGGGGGGCTGATGGGTGGCAT GGTCTGGTCTCATCAGCCTGGCCCCTCCAGCTGGTTATTGGTGAGGGTCC ATAGAGCAGAGCGGGGGCTGATGGGTGGCATGGTCTGGTCTCATCAGGCC TGGCGCCCTCT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0312 a0001c0005t0003g0312	1	400	0.0025	410	c.117 others(429): Show c.1176+1932_1176+1933insGGGGGCTGATGGGTGGCATGGTCTGG TCTCATCAGGCCTGGGCCCCTCCAGCTGGTTATTGGTGAGGGTCCATAGA GCAGAGCGGGGCTGATGGGTGGCATGGTCTGGTCTCATCAGGCCTGGGCC CCTCCAGCTGGTTATTGGTGAGGGTCCATAGAAGCAGAGCGGGGCTGATG GGTGGCATGGTCTGGTCTCATCAGGCCTGGCCCCTCCAGCTGGTTATTGG TGAGGGTCCATAGAGCAGAGGGGGGCTGATGGGTGGCATGGTCTGGTCTC ATCAGCCTGGCCCCTCCAGCTGGTTATTGGTGAGGGTCCATAGAGCAGAG CGGGGGCTGATGGGTGGCATGGTCTGGTCTCATCAGGCCTGGCGCCCTCT CAGCTGGTTATTGGTGAGGGTCCATAGAGCAGAG	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VCX3A_chrX_6528618_6540118	6533224	C C	CCCTCCCT others(403): Show CCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCCACACACCTC CTCTTCCCCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCTCACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCTCACACCACC TCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCC CCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCCTCACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACA CACCTCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	74	0.0135	410	c.52 others(419): Show c.520_*521insAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGGGGA AGAGGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		393		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466738	A A	AGGGAGGG others(403): Show AGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGG GAGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0012 a0001c0001t0010g0012	1	271	0.0037	410	c.35 others(419): Show c.355_*356insGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGA GGAGGTGTGTGGGGAGGGAGGGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		229		chrX	TogoVar
ZNF511_chr10_133303914_133318161	133317946	A A	ACACCCCC others(403): Show ACACCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCAGACACA GAGATGGAAAGACCACACACCCCGCCCAGACACAGAGATGGAAAGACCAC ACACCCCCAGACACAGAGATGGAAAGACCACACACCCCCCCCCCAGACAC AGAGATGGAAAGACCACACCCCCCCCCCCCAGACACAGAGATGGAAAGAC CACACACCCCGCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACA CAGAGATGGAAAGACCACACCCCCCCCCCCCAGACACAGAGATGGAAAGA CCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCC AGACACAGAGATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGA CCACACACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	410	c.50 others(421): Show c.5080_*5081insCACCCCCAGACACAGAGATGGAAAGACCACACCC CCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGACACAG AGATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGACCACACAC CCCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCCAGACA CAGAGATGGAAAGACCACACACCCCGCCCAGACACAGAGATGGAAAGACC ACACACCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCCAGAC ACAGAGATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGA CCACACACCCCGCCCAGACACAGAGATGGAAAGACCACACACCCCCAGAC ACAGAGATGGAAAGACCACACACCCC	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4786		chr10	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(403): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATAGAAATATATATAT TTCTATATATATAAATATATATATTTCTATATATATAAATATATATATTT CTATATATATAAATATATATATATATAAATATATATATAAATATATATTT ATATATATATAAATATATATATATAAATATATATAAATATATATATATTT ATATATATAAATATATATATATTTATATATATAAATAAATATATATTTAT ATATATAAATAAATATATATTTATATATATAAATATATATATTTTTATAT ATATAAATATATATATTTTTATATATATAAATATATATATTTATATATAT ATAAATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0274 a0001c0001t0013g0274	1	400	0.0025	410	c.532 others(425): Show c.532+446_532+447insTATATATTTATATATATATAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAAAATATATATATT TATATATATAAATATATATTTATTTATATATATAAATATATATTTATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATTTATATATATATATTTATATATATATAAATATATATTTATATATA TATTTATATATATATATATTTATATATATAGAAATATATATATTTATATA TATAGAAATATATATATTTATATATATAGAAATATATATATTTCTATATA TATAAATATATATATATTTCTATATATATAAATATATATATTTATATATA TAGAAATATATATATATTTATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(404): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACC CCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCA GCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp1 HG02074.hp2 others(4): Show HG00408.hp2 HG02015.hp1 HG02074.hp2 HG02135.hp2 HG03017.hp2 HG03831.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0061 a0001c0001t0064	a0001c0001t0001g0148 a0001c0001t0006g0147 a0001c0001t0007g0333 others(4): Show a0001c0001t0001g0148 a0001c0001t0006g0147 a0001c0001t0007g0333 a0001c0001t0010g0261 a0001c0001t0020g0136 a0001c0001t0061g0149 a0001c0001t0064g0239	7	337	0.0208	411	c.61+ others(426): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGT GTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGG TGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTG GGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGA CTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACT GAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173281	C C	CCCACCCA others(404): Show CCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCA CCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACC CCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACTCAACAC ATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACC TCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTC CACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCAC TCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACA CATCACCTCAGT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18967.hp1 NA18947.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0080 a0001c0001t0003g0059 a0001c0001t0003g0080	2	337	0.0059	411	c.61+ others(426): Show c.61+6385_61+6386insACTGAGGTGATGTGTTGGGTGGGCTGAGGT GATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTG AGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGG CTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGG TGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT GGGGGGTGGACTGAGGTGATGTGTTGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar

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Search Results (Total: 10000 hits)