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
OR6B3_chr2_240039571_240058521	240042131	GGAAGGGC others(497): Show GGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGG CATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTG AAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCG TGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAA GGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATG GACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGA GGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGG TGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGC CGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGG AAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCA TGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00621.hp2 others(45): Show HG00140.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01167.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02083.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03688.hp1 HG04115.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18954.hp2 NA18957.hp1 NA18966.hp1 NA18994.hp1 NA18995.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19064.hp1 NA19066.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp2	a0003 a0004 a0015 a0003 a0004 a0015	a0003c0004 a0004c0003 a0015c0013 a0003c0004 a0004c0003 a0015c0013	a0003c0004t0003 a0004c0003t0003 a0015c0013t0003 a0003c0004t0003 a0004c0003t0003 a0015c0013t0003	a0003c0004t0003g0003 a0003c0004t0003g0028 a0003c0004t0003g0048 others(11): Show a0003c0004t0003g0003 a0003c0004t0003g0028 a0003c0004t0003g0048 a0003c0004t0003g0050 a0003c0004t0003g0063 a0003c0004t0003g0068 a0003c0004t0003g0089 a0003c0004t0003g0091 a0003c0004t0003g0092 a0003c0004t0003g0108 a0003c0004t0003g0130 a0003c0004t0003g0132 a0004c0003t0003g0030 a0015c0013t0003g0099	48	444	0.1081	-504	c.24 others(11): Show c.2442_*2945del		OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding					2439		chr2	TogoVar
OR6B3_chr2_240039571_240058521	240042223	CGTGGGTG others(497): Show CGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACG AAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCA TGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAA GAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTG GGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGG GCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGA GGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGG CATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTG AAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCG TGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGATGAA GGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG03098.hp1 HG03098.hp2 others(1): Show HG02056.hp1 HG03098.hp1 HG03098.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0012 a0003c0005t0001 a0001c0001t0001 a0001c0001t0012 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0012g0113 a0003c0005t0001g0117 others(1): Show a0001c0001t0001g0001 a0001c0001t0012g0113 a0003c0005t0001g0117 a0003c0005t0001g0128	4	444	0.0090	-504	c.23 others(11): Show c.2350_*2853del		OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding					2347		chr2	TogoVar
PANX2_chr22_50165731_50185295	50166161	CCACGCCT others(497): Show CCACGCCTGCAATCCCAGCGTGGCTCAAGCCTGCAATCCCAGCGTGGCCC ACGTCTCCAATCCCAGCGTGGCTCAAGCCTGCAATCCCAGCGTGGCCCAC ATCTCCAATCCCAGCGTGGCCCACGTCTCCGATCCCAGCGTGGCTCAAGC CTGCAATCCCAGCGTGGCTCAAGCCTGCAATCCCAGCGTGGCCCACGCCT GCAATCCCAGCGTGGCTCACGCCTGCAGTCCCAGCGTGGCCCACGCCTGC AGTCCCAGCGTGGCCCACGCCTGCAGTCCCAGCGTGGCCCACATCTCCAG TCCCAGCGTGGCTCAAGCCTGCAATCCCAGCGTGGCCCACGTCTCCAGTC CCAGCGTGGCCCACGTCTCCAATCCCAGCGTGGCCCACGTCTCCAATCCC AGCGTGGCCCACGTCTCCAATCCCAGCGTGGCTCAAGCCTGCAATCCCAG CGTGGCTCACACCTGCAATCCCAGCGTGGCTCACGCCTGCAATCCCAGCG TGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0122 a0001c0001t0011g0122	1	440	0.0023	-504	c.-45 others(11): Show c.-4569_-4066del		PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding					4569		chr22	TogoVar
PLEKHG4B_chr5_87168_194966	165802	GCTCTGAT others(497): Show GCTCTGATGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCAC AGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGG GGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTC TGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCAGGGCTCACACTA ATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGACGGGACGGGGCTCACACTAATGCTCTGACGGGGCG GGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGAC GGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATGC TCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAG TAATC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 NA18906.hp1 HG02809.hp1 HG02818.hp2 NA18906.hp1	a0014 a0021 a0014 a0021	a0014c0027 a0014c0066 a0021c0026 a0014c0027 a0014c0066 a0021c0026	a0014c0027t0049 a0014c0066t0051 a0021c0026t0060 a0014c0027t0049 a0014c0066t0051 a0021c0026t0060	a0014c0027t0049g0171 a0014c0066t0051g0170 a0021c0026t0060g0169 a0014c0027t0049g0171 a0014c0066t0051g0170 a0021c0026t0060g0169	3	210	0.0143	-504	c.347 others(19): Show c.3476+2261_3476+2764del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
RPTOR_chr17_80539838_80971368	80743809	CTACTAGC others(497): Show CTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAGAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0103 a0001c0009t0012g0103	1	196	0.0051	-504	c.655 others(18): Show c.655-10192_655-9689del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744343	CCCTGGCT others(497): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGC ACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTA GCACTCTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0130 a0001c0060t0001g0130	1	196	0.0051	-504	c.655 others(17): Show c.655-9625_655-9122del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934232	AGGGGAGG others(497): Show AGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTC CGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0071 a0001c0004t0001g0071	1	434	0.0023	-504	c.843 others(17): Show c.843-1527_843-1024del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976497	GGCCCAGG others(497): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGA AAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	150	0.0067	-504	c.532 others(19): Show c.532-47064_532-46561del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SULT4A1_chr22_43819509_43867513	43834334	CCACCGCG others(497): Show CCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCC GCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGCCCTGTG CTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGC CCTGAGCTTCCCACGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCAC CGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGCCCTGAGCTTCCCGCGC CCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTC CCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGGCCCTG AGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCACCCACACCGCG TCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCC ACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGC AGCCA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(79): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG02040.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18983.hp1 NA18984.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19070.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(9): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0026 a0003c0004t0003	a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0014 others(54): Show a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0007g0005 a0001c0001t0007g0073 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0086 a0001c0001t0009g0087 a0001c0001t0011g0046 a0001c0001t0011g0047 a0001c0001t0012g0069 a0001c0001t0012g0071 a0001c0001t0014g0130 a0001c0001t0014g0131 a0001c0001t0015g0107 a0001c0001t0015g0129 a0001c0001t0018g0044 a0001c0001t0019g0045 a0001c0001t0021g0083 a0001c0001t0026g0215 a0003c0004t0003g0078	82	386	0.2124	-504	c.509 others(16): Show c.509-1104_509-601del		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291841	CCTCCGTG others(497): Show CCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGT CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCC CTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGT GTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCC CCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCAT GCACA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0043 a0001c0004t0002g0043	1	284	0.0035	-504	c.121 others(17): Show c.1214+154_1214+657del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ZNF100_chr19_21717771_21772579	21727007	GCCACATT others(497): Show GCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTCTCTTAT GTTTAGTGAGGGCTGAGGACCAGTTAAAGCCTTTGCCGCATTCTTCACAT TTGTAGAATTTCTCTCCAGTATGACTTGTCTTATGTTTAGTAAGGTATGA GAATCGGTAAAAAGCTTTGCCACATTCTTCACATTTGTAAGGTTTCTCTC CAGCATGAGTTATCTTATGTGTAGTAAGGGTTGAGGACTGGTTAAAGGCT TTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTATCCT GTGTGTAGTAAGGTGTGAGGACCGGTTAAAAGCTTTGCCACATTCTGTAC ATTTGTAGGGTTTCACTCCAGTATGAATTCTTTTATGTGTAGTAAGGTGT GAAGACCGGTTAAAAGCTTTCCCACATTCTTCACATCTGTATGGTTTCTC TCCAGTATGAATTATCTTATGTGTAGTAAGGTGTGAGGACCGGTTAAATG CTTTC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA20752.hp1 NA20752.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0155 a0008c0013t0002g0155	1	365	0.0027	-504	c.801 others(8): Show c.801_1304del	p.Lys others(13): Show p.Lys268_Gly435del	ZNF100	ENSG00000197020.12	transcript	ENST00000358296.11	protein_coding	5/5	1454/5691	801/1629	267/542			chr19	TogoVar
ZNF678_chr1_227558556_227667461	227654802	TGAATGTG others(497): Show TGAATGTGACAAAGTTTTTAATTGGTGGTCACAACTAACTAGCCATAAGA AAATTCATAGTGGAGAGAAACCATACCCATGTGAAGAATGTGGCAAAGCC TTTACCCAGTTCTCAAACCTTACACAACATAAGAGAATTCATACTGGAGA GAAACCCTACAAATGCAAAGAATGTTGCAAAGCCTTTAACAAGTTCTCAA ACCTTACTCAACATAAGAGAATTCATACTGGAGAGAAACCTTACAAGTGT GAAGAATGTGGCAACGTTTTTAATGAGTGCTCACACCTAACTAGACATAG GAGAATTCATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAG CCTTTACACAGTTTGCAAGCCTTACTCGTCATAAAAGAATTCATACTGGA GAAAAACCCTACCAATGTGAAGAATGTGGCAAAACTTTTAATCGGTGTTC ACACCTAAGTAGCCATAAGAGAATTCATACTGGAGAGAAACCCTACAAAT GTGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 HG01074.hp1 HG01928.hp2 others(12): Show HG00438.hp1 HG01074.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02080.hp1 HG03831.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp2 NA18995.hp1 NA19002.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0046 others(12): Show a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0046 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0056 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0099 a0002c0002t0003g0100	15	394	0.0381	-504	c.560 others(8): Show c.560_1063del	p.Asp others(13): Show p.Asp187_Cys354del	ZNF678	ENSG00000181450.18	transcript	ENST00000343776.10	protein_coding	4/4	892/8543	560/1578	187/525		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF93_chr19_19895946_19940575	19934213	ACTGGAGA others(497): Show ACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCCTTTGTTGC ATCCTCAACCCTTAGTAAACATGAGATCATTCATACTGGAAAGAAACCCT ACAAGTGTGAAGAATGTGGCAAAGCTTTTAACCAGTCCTCATCCCTTACT AAACATAAGAAAATTCATACTGGAGAGAAACCCTACAAATGTGAAGAATG TGGCAAAGCTTTTAACCAGTCCTCTTCCCTTACTAAACATAAGAAAATTC ATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGCAAAGCTTTTAAC CAGTCCTCAACCCTTATTAAACATAAGAAAATTCATACTAGAGAGAAACC CTACAAATGTGAAGAATGTGGCAAAGCTTTTCACCTATCCACACACCTTA CTACACATAAGATACTTCATACTGGAGAGAAACCTTATAGATGTAGAGAA TGTGGCAAAGCTTTTAACCATTCTGCAACCCTTTCTTCACATAAGAAAAT CCATT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19087.hp2 NA19087.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0003 a0009c0013t0003	a0009c0013t0003g0003 a0009c0013t0003g0003	1	388	0.0026	-504	c.127 others(9): Show c.1272_1775del	p.Tyr others(13): Show p.Tyr425_Pro592del	ZNF93	ENSG00000184635.17	transcript	ENST00000343769.6	protein_coding	4/4	1415/2763	1272/1863	424/620		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306537	TGGCTTCT others(497): Show TGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTT CTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTC GCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATC TGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTA AGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTC CCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGAT TTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACG TCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTTGATA GCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTAC TAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCC CCCCC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG04115.hp1 NA18960.hp2 HG02129.hp2 HG04115.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0195 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0195	3	362	0.0083	-504	c.-12 others(19): Show c.-128+6242_-128+6745del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56306552	CGCCAGAG others(497): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAG CTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACT AAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCC CCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGAGA TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCTTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGACTTCTCTTCCCTTGATAGCTACAAAGAGGCTC CTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGA GACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCC CTGTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	362	0.0028	-504	c.-12 others(19): Show c.-128+6227_-128+6730del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ATP6AP2_chrX_40575970_40611848	40602003	TGGGTGTG others(496): Show TGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGC GGGCGGAACACCTGAGGCCAGGAGTTCTAGACCAGCCTGGGCAACATGGT GAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTAGCGG GCACCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGT ACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTA GCCTGGGAGACACAGCAAGACTCCGTCTCAAATAAAAAAAAAATTACAAA AATAAAAATACATAGTTCAGCTCGCAAGAAAGGGAAATTCTCTTACAGAG TAAATAAAGAAGAGGAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAG CACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTTAGGAGTTCGAGACC AGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATC AGCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00639.hp1 others(69): Show HG00438.hp2 HG00621.hp1 HG00639.hp1 HG01081.hp1 HG01081.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01891.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18953.hp1 NA18963.hp1 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18989.hp1 NA18998.hp1 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19078.hp2 NA19084.hp2 NA19086.hp1 NA19240.hp1 NA20300.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0004 a0005c0008 a0006c0009	a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0003t0003 a0001c0006t0003 a0003c0004t0003 a0005c0008t0002 a0006c0009t0003	a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0002t0002g0005 others(52): Show a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0026 a0001c0002t0002g0037 a0001c0002t0002g0100 a0001c0002t0002g0127 a0001c0002t0002g0148 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0187 a0001c0002t0002g0190 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0180 a0001c0002t0003g0184 a0001c0002t0003g0196 a0001c0002t0007g0151 a0001c0002t0008g0005 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0080 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0006t0003g0078 a0001c0006t0003g0079 a0003c0004t0003g0014 a0003c0004t0003g0170 a0003c0004t0003g0193 a0005c0008t0002g0099 a0006c0009t0003g0179	72	299	0.2408	-503	c.858 others(17): Show c.858+1126_858+1628del		ATP6AP2	ENSG00000182220.15	transcript	ENST00000636580.2	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241806910	ACCTTCCC others(496): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCA CCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0248 a0003c0003t0001g0248	1	314	0.0032	-503	c.27 others(11): Show c.2745_*3247del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2624		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71679927	TCCTCCCT others(496): Show TCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCGCTCTCT CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCC CTTCCTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCGCTCTCTCTTCCTCCCTCCCGCTCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCTATCCCTT CCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCGC GCTCTCTCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTT CCTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02109.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0045 a0001c0001t0013g0073 a0001c0001t0001g0045 a0001c0001t0013g0073	2	76	0.0263	-503	c.150 others(19): Show c.1500+2653_1500+3155del		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
MYOM2_chr8_2040046_2150456	2085515	GCCCCCCA others(496): Show GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCG TGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTC TGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATC TCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAG TCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCAC TGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCC CCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCC CCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCC	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp2 HG01169.hp2 HG01515.hp2	a0001 a0094 a0001 a0094	a0001c0003 a0094c0061 a0001c0003 a0094c0061	a0001c0003t0001 a0094c0061t0001 a0001c0003t0001 a0094c0061t0001	a0001c0003t0001g0014 a0094c0061t0001g0214 a0001c0003t0001g0014 a0094c0061t0001g0214	2	403	0.0050	-503	c.164 others(17): Show c.1644+130_1644+632del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
TMEM44_chr3_194582678_194638419	194629861	ACCTGCCT others(496): Show ACCTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGC CCCTGAAATAATACGCTGTCGTACTGCCTCCCGAAGGGGCTGGCTGTTTC CATCGGCGTCACTGATAGGGCCCCTGAAATAGTATGCTGTCGTACCTGCC TCCAGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGTCCCTGAA ATAATACGCTGTCGTACCTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGG CGTCACTGATAGGGCCCCTGAAATAATACGCTGTCGTACCTGCTTCCCGA AGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATAATA CGCTGTCGTACTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACT GATAGGGCCCCTGAAATAGTATGCTGTCGTACCTGCCTCCAGAAGGGGCT GGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATGATACGCTGTC GTAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0388 a0001c0001t0006g0388	1	404	0.0025	-503	c.138 others(17): Show c.138-1855_138-1353del		TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9						chr3	TogoVar
TPH2_chr12_71933845_72037440	72004026	GCACACAC others(496): Show GCACACACTTCATTTTATCCATGCAGAAGCACCATAGTCAACAGCTGGGA TCTCTCAGCACTCATCCCAGCTCAATGAAGATGCTATTCGGGATGTTTGA TGTACAGTATGTGGTGTGGTGCAATGTGGTGAAAAGAATCTGAACTTGAA GTTAGCACAGCTGGGTTTGAGTGTTAGATTTGTTACTTCCTAAACTTGTG CTCAGCTTAGGCACAAAGAAACAAATTATATTACCTCTTTTTGTCTCAAA TGTCATCTTTCAATTGAAGATATTCTTCTACTGCCCAATGTTGAATAAAG AGTAAAGGAGACGGCATACTTTAATGATGTACATATGACATTATCTATGT CATACCCAGGTCTGGAAATACTTCTTCTCATCATTACCTAAAAAATTCTA ACTGCACCAAAGGAGGTGTGTTATTGGATATCTAATTTTAAAGTCATTTT AAGTCCCCCAATTCTCTAGTTTTTCCCATAATTCAAAAGTCCTGATATTG CGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00597.hp1 others(45): Show HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01978.hp1 HG02004.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02970.hp1 HG03041.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18954.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18975.hp1 NA18977.hp2 NA18984.hp1 NA18986.hp1 NA19004.hp2 NA19010.hp1 NA19057.hp1 NA19072.hp2 NA19082.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0003c0006t0003	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 others(39): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0062 a0001c0001t0005g0035 a0001c0003t0001g0086 a0001c0004t0001g0050 a0001c0004t0001g0257 a0001c0004t0003g0024 a0001c0004t0003g0048 a0001c0004t0003g0049 a0003c0006t0003g0060 a0003c0006t0003g0061	48	334	0.1437	-503	c.106 others(19): Show c.1068+9463_1068+9965del		TPH2	ENSG00000139287.13	transcript	ENST00000333850.4	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF99_chr19_22747183_22789151	22757262	TTAAAAGC others(496): Show TTAAAAGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTTTCCAGTATG AATTATCTCATGTTTTCTAAGGGCTGAGAAATGTTTAAAAGCTTTGCCAC ATTCTTCACATTTGCAGGGTTTCTCTCCATATGAATTACCTTATGTAAAG TAAGTTTTGAGGACCACTGAAAAGCTTTACCACATTCTTCACATTTGTAG GATTTCTCTCCAGTATGAATTATCTCATGTTTTCTAAGGGTTGAGGAATT GTTAAAAGCTTTGCCACATTCTTCACATTTATAGGGTTTCTTTCCAGTAT GAATTATCTTATGTTTTCTAAGGGCTGAGAAATGCTTAAAAGCTTTGCCA CATTCTTCACATTTGCAGGGTTTCTCTGCAGTATGAATTACCTTATGTAC AGTAAGTTTTGAGGACCACTTAAAAGCTTTACCACATTCTTCACATTTGT AGGGTTTCTCTCCAGTATGAATTATCTCATGTTTTCTAAGAGTTGAGGAC TGGC	T T	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG02723.hp1 HG02895.hp1 HG02897.hp1 others(3): Show HG02723.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03540.hp2 NA20300.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0008 a0000c0005t0008	a0000c0005t0008g0054 a0000c0005t0008g0055 a0000c0005t0008g0056 others(3): Show a0000c0005t0008g0054 a0000c0005t0008g0055 a0000c0005t0008g0056 a0000c0005t0008g0057 a0000c0005t0008g0068 a0000c0005t0008g0070	6	344	0.0174	-503	c.214 others(8): Show c.2144_*51del	p.Ser others(5): Show p.Ser715fs	ZNF99	ENSG00000213973.10	transcript	ENST00000596209.4	protein_coding	4/4	2781/7861	2144/2595	715/864			chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83002921	CCTCCGCG others(495): Show CCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCCGCAGTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTG AGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCA CTCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCG CGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGG GATTCCTGAGCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCA CTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCG CGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCAGTCCGCGTGTGG GATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCG CCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCC ACT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	266	0.0038	-502	c.459 others(17): Show c.459+1692_459+2193del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98347266	TACAAATA others(495): Show TACAAATATTAGTTTTACTATTTTTTAATTTCCCTATACATTTATAACTG ACAGTGAGTGCGTTTTTAACAAACATTTTTAAAGGTCATAGAACAACGTA ATTTTGCAGTATCAAAATGACTTTGTGTGGTTTCAGCTTGCACATTTTTA TGATGCCATTACCATGCAAAACAGGGCTGCCTGTTTTTAAAATTAGTGAG TTAAATGTACCACTTAAGAAATTAGAAAGGCCAGGCGCAGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCAAGAGGTCAG GAGATCGAGACCATCCTGGCTAACATGGTGAAAACCCGCCTCTACTAAAA ATACAAAAAATTAGCCGGGCGCCGTGGCAGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAAGCGGAGCGTGC AGTGAGCCAAGATCGCGCCACTGCACTCTGTCTGCCCGGGCGACAGAGCG AAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0134 a0001c0002t0015g0134	1	298	0.0034	-502	c.214 others(17): Show c.214+7274_214+7775del		BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	3/13						chr7	TogoVar
DOK7_chr4_3458306_3499482	3490329	TCCATTCA others(495): Show TCCATTCATTCCTTCCTTTTCCCCACACTCATTCATTCCTTCCTTCCCCC CACCCCCTGCTCATTCAGTCCTTCTTTCACCCCCCCCACCGCCCCGCTCA TTCATTCCTTCATTTCTCTCCTGCTCATTCATTCCTTTCTTCTCCCTCTG CTCATTCATTCCTTCCTTTTCCCCCTGCTCATTCTTTCCTTCACCCCCCC GCTCATTCGTTCCTTCCTTCTCCCCCTGCTCATTCGTTTTTTCCTTCTCT CTCTGCTCATTCCTTCATTTCTTCTCTCCCTGCTCGTTCATTCCTTCCCT CTCCGCCTGCTCGTTCATTTCCCTCCTGCTCATTCATTCCTCCCTTCCCC GCATTCCTTCCTTCCTTCCCCCCTCATGCATTCCTTCATTTCCCCCCACT CATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCCTTCTTTCCTTCTCCCC CGGCTCATTCATTCCTTCCTCTGCCCCCCCGCTCATTCATTCCTGCCTTC CCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02258.hp2 HG02976.hp1 others(1): Show HG01167.hp1 HG02258.hp2 HG02976.hp1 NA19030.hp1	a0007 a0014 a0007 a0014	a0007c0008 a0014c0017 a0007c0008 a0014c0017	a0007c0008t0010 a0014c0017t0010 a0007c0008t0010 a0014c0017t0010	a0007c0008t0010g0118 a0007c0008t0010g0322 a0007c0008t0010g0370 others(1): Show a0007c0008t0010g0118 a0007c0008t0010g0322 a0007c0008t0010g0370 a0014c0017t0010g0260	4	404	0.0099	-502	c.772 others(16): Show c.772+551_772+1052del		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
LYSMD4_chr15_99722405_99738437	99723812	CCAAAACT others(495): Show CCAAAACTGTGACCAGCATTCTTCACTTCAGTGCTCATCAACTCGCTATT GCTCCAAGACTTTCCGTAGCTTCCCACTGTCCATCAAATCATGTCCAGAT CACTTAAATGTGGAATTCAGCGTTGCCTAGAACCTAGCCTCAAACTAGTA CTGCAGCATTTTCCCACAGCTCCGTTTACATTTCCTTCACGCCAGGCCAC CAGACTATTCATAGTTCCCTGTCTACATAGTCCCCCGTTTCCAGCCTCTA GGCCTTCGCTCACACTGGACAGTCCTCTTTGAAAAGAACCATCCACTGCC ATATTACTAAATCCCAGCCTTCTTTCAGATGTCGACTAAGGAAATGTCAT CTCCTCCAGATGTTTTATTAGCCACTTGTCATATATTTCCCTCTGTGGGC CATCGTGTGTTCTACCGTATCTCTACTCTGGCATAGGTCTTTTTTAAAAA TTATCATTATTTCTCCTGAGACAGGGTTTGGCTCCGATGCCCAGGCTGGA GTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG01884.hp2 others(9): Show HG00735.hp2 HG01243.hp2 HG01884.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp1 HG02886.hp1 HG03041.hp1 HG03209.hp1 NA18522.hp1 NA19240.hp2 NA21309.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0002 a0005c0007 a0009c0015 a0001c0002 a0005c0007 a0009c0015	a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 others(7): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0017 a0001c0002t0020 a0001c0002t0029 a0005c0007t0017 a0005c0007t0021 a0005c0007t0027 a0009c0015t0011	a0001c0002t0003g0079 a0001c0002t0004g0067 a0001c0002t0011g0072 others(7): Show a0001c0002t0003g0079 a0001c0002t0004g0067 a0001c0002t0011g0072 a0001c0002t0017g0043 a0001c0002t0020g0069 a0001c0002t0029g0078 a0005c0007t0017g0096 a0005c0007t0021g0030 a0005c0007t0027g0073 a0009c0015t0011g0074	12	438	0.0274	-502	c.48 others(11): Show c.4809_*5310del		LYSMD4	ENSG00000183060.16	transcript	ENST00000684762.1	protein_coding					3592		chr15	TogoVar
NPEPPS_chr17_47526108_47628276	47557416	TGGTCCCA others(495): Show TGGTCCCAGTGCAGTGGTGTTTATAACTCATCAATCATAGCCAGTTACAG ATTTCTTTATTCCTTCTTCACTCCCACTGCTTCACTTGACTACCCTTAAA AAAAAAACAAAAAACAAACAGAAGTCTTGAGATGGATGTTTGGCTTATTA CTTTTTAGTCCTTCTTTCTAGTATATTCATTTAAATATAAATTTTAATCC TAAAAATGTACTGCTTTTAGCTGCAGCCCACACTTTTTTTGGTTTGTTTG TTTTGGGGGAAATTCTCCAGGCAGTAGTTATGGCTGTTGTTGCTTGCTGC TGCTTCTTTCCTATTTTTGTTGATAGCTTTGTGAGAGTACCTGTAATGTT GACATACTATAAAGGGTACATATTAAAATATGTAATTTGATAAGTTTTCT CATGAATGTAACCAGGTAATGAACATATTCATCACCCTAGAACATTTCCT CATGCCCCTTTATAATCCTTTTCTCTCCTTTTCCTTGCTCCTTCCCCAGG CAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(15): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG01123.hp2 HG02080.hp1 HG02486.hp2 HG02602.hp2 HG03704.hp2 HG03927.hp1 NA18957.hp2 NA18973.hp1 NA18977.hp2 NA18981.hp2 NA18985.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0002 a0001c0001t0009 a0006c0009t0002 a0001c0001t0002 a0001c0001t0009 a0006c0009t0002	a0001c0001t0002g0029 a0001c0001t0002g0093 a0001c0001t0002g0097 others(15): Show a0001c0001t0002g0029 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0290 a0001c0001t0002g0296 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0009g0094 a0006c0009t0002g0114	18	342	0.0526	-502	c.340 others(19): Show c.340+11424_341-11499del		NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	2/22						chr17	TogoVar
PARVB_chr22_44019302_44177939	44113680	AAGTAAGG others(495): Show AAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTG CACCAACACAAATACGTTCTTACTAAGTAAGGCCCTGCACCAACACAGAT ACATTGTTACTAACTAAGGCCCTGTACCAACACAGATACGTTGTTACTAA GTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGGCCCTGCACCAA CACAGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTG TTACTAACTAAGGCCCTGCACCAGCACAGATATATTGTTACTAAGGCCCT GCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGA TATGTTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTA AGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCA ACACAGATACGTTGTTACTAAGTATGGCCCTGCACCAACACAGATACATT GTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	332	0.0030	-502	c.274 others(17): Show c.274-5356_274-4855del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280935	AGCCATCC others(495): Show AGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTC CTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTC AGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCA CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGT CACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCAC CTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCA CCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCT CCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCC TTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0022 a0001c0020t0005g0022	1	280	0.0036	-502	c.484 others(18): Show c.484+9609_484+10110del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280951	CCTCCCTC others(495): Show CCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCA CCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCT CCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCC TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGC CACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCAC CCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCT CCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCAC CCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCT GTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGT CAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG03195.hp2 HG02572.hp1 HG02922.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0034 a0002c0009 a0001c0004 a0001c0034 a0002c0009	a0001c0004t0038 a0001c0034t0008 a0002c0009t0089 a0001c0004t0038 a0001c0034t0008 a0002c0009t0089	a0001c0004t0038g0238 a0001c0034t0008g0033 a0002c0009t0089g0269 a0001c0004t0038g0238 a0001c0034t0008g0033 a0002c0009t0089g0269	3	280	0.0107	-502	c.484 others(18): Show c.484+9593_484+10094del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
TMEM44_chr3_194582678_194638419	194629799	CGGAGGGG others(495): Show CGGAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATA ATACGCTGTCGTACCTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGT CACTGATAGGGCCCCTGAAATAATACGCTGTCGTACTGCCTCCCGAAGGG GCTGGCTGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATAGTATGCT GTCGTACCTGCCTCCAGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGAT AGGGTCCCTGAAATAATACGCTGTCGTACCTGCCTCCCGAAGGGGCTGGC TGTTTCCATCGGCGTCACTGATAGGGCCCCTGAAATAATACGCTGTCGTA CCTGCTTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGCC CCTGAAATAATACGCTGTCGTACTGCCTCCCGAAGGGGCTGGCTGTTTCC ATCGGCGTCACTGATAGGGCCCCTGAAATAGTATGCTGTCGTACCTGCCT CCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00558.hp2 others(80): Show HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00673.hp2 HG01099.hp1 HG01106.hp1 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02683.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18945.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp2 NA19091.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0001c0027 others(2): Show a0001c0001 a0001c0007 a0001c0027 a0002c0003 a0004c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 a0001c0007t0010 a0001c0027t0013 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0010 a0004c0022t0001	a0001c0001t0001g0321 a0001c0001t0001g0330 a0001c0001t0001g0331 others(78): Show a0001c0001t0001g0321 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0001g0353 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0370 a0001c0001t0001g0374 a0001c0001t0001g0378 a0001c0001t0001g0381 a0001c0001t0002g0010 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0320 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0343 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0360 a0001c0001t0002g0362 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0382 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0004g0197 a0001c0001t0004g0326 a0001c0001t0004g0338 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0349 a0001c0001t0004g0356 a0001c0001t0004g0375 a0001c0001t0004g0377 a0001c0001t0006g0325 a0001c0001t0006g0337 a0001c0001t0006g0351 a0001c0001t0013g0376 a0001c0007t0001g0203 a0001c0007t0001g0323 a0001c0007t0001g0324 a0001c0007t0002g0384 a0001c0007t0004g0011 a0001c0007t0004g0202 a0001c0007t0010g0383 a0001c0027t0013g0316 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0002g0155 a0002c0003t0004g0074 a0002c0003t0004g0075 a0002c0003t0010g0073 a0004c0022t0001g0156	83	404	0.2055	-502	c.138 others(17): Show c.138-1792_138-1291del		TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9						chr3	TogoVar
TRAF3_chr14_102772449_102916500	102877040	GTTCCACA others(495): Show GTTCCACAGGCCTTAGGCTCAATTCATAGATAATCCGTTCCACAGACCTT GTGCTCGATTCATAGATAATCTGTTCCACAGGCCTTCCCTCAACTCATAG ATAATCCGTTCCACAGGCCTTCCGCTCATCTCGTAGATAATCCGTTCCAC AGGCCTTCCGCTCAGCTCATAGATAATCCGTTCCACAGGCCCTCCCCCAA CTCATAGATAATCCATTCCACAGGCCTTCCGCTCAGCTCATAGATAATCC ATTCCACAGGCCTTCCGCTCAGCTCATAGATAATCTGTTCCACAGGCCTT CTGCTCAGTTTGTAGATAATCCATTCCACAGGCCTTCCGCTCAATTCATA GATAATCCGTTCCACAGGCCTTCCGCTCAGCTCATAGATAATCCATTCCA CAGGACTTCTGCTTAGCTCATAGATAATCCATTCCACAGGCCTTCCGCTC AACTCATAGATAATCCGTTCCACAGGCCTTCCGCTCAGCTCATAGATAAT CCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02622.hp2 others(4): Show HG01109.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02895.hp2 HG03098.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0020 a0001c0001t0041 a0001c0001t0012 a0001c0001t0020 a0001c0001t0041	a0001c0001t0012g0024 a0001c0001t0012g0098 a0001c0001t0012g0124 others(4): Show a0001c0001t0012g0024 a0001c0001t0012g0098 a0001c0001t0012g0124 a0001c0001t0012g0168 a0001c0001t0020g0054 a0001c0001t0020g0142 a0001c0001t0041g0051	7	296	0.0237	-502	c.570 others(16): Show c.570+525_570+1026del		TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
CDH4_chr20_61247261_61945617	61783697	TCCCAGTT others(494): Show TCCCAGTTCCTTGGGACAGTTCTCCGGGCCCTCAGATGTCCTGTGCCCCC GGGAGAAATGTAAGCCTAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGT GTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTC AAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCT TGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTA AGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCC CAGGAGAATGTAAGCCCAGTTCCTTGGGACAGTTCTCGAGGCCCTCAGGT GTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTC AAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCT TGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTA AG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0027 a0001c0010t0001g0027	1	106	0.0094	-501	c.576 others(19): Show c.576+10526_576+11026del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF2RA_chrX_1263814_1314935	1297875	GGAACCCT others(494): Show GGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGAC CCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTAC CCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACAGT CTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCC GTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACA GTCCCCTACCCATGACCTCTGGTGGAACCCTACAGTCCCCTACTCACGAC CCCTACACTCTCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTAC TCACGACCCCTACACTCTCCTACCCATGACCTCTGGTGGAACCCTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACC CTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGG CA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0150 a0001c0014t0005g0150	1	159	0.0063	-501	c.810 others(17): Show c.810+2453_811-2082del		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	3795327	ATATCTAT others(494): Show ATATCTATCATGTAGATATAGATATATATCTATCATGTATATAGATATAT ATCATGTATAGATATAGATATCTATCATAGATATAGATATATATCTATCA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATAGA TATAGATATATATCTATCATAGATATAGATATATATCTATCATAGATATA GATATATATCTATCATAGATATAGATATATATCTATCATAGATATAGATA TATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATA TCTATCATGTATAGATATAGATATATATCTATCATAGATATAGATATATA TCTATCATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATA TCTATCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTA TCATGTACAGATATAGATATATACCTATCATGTACAGATATAGATATATA TC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0083 a0006c0083	a0006c0083t0004 a0006c0083t0004	a0006c0083t0004g0006 a0006c0083t0004g0006	1	126	0.0079	-501	c.819 others(19): Show c.819-41786_819-41286del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
FXN_chr9_69030752_69084076	69055646	ACAATACA others(494): Show ACAATACAGGGCTAAGTTTTGTATTTTTAGTAGAAATGGGGTTTCACCAT GTTGGCCAGGCTGGTCTCAAACTCCTGATCTCAAGTGATCCACCCGCCTC AGCCTCCTAAAGTGCTGGGTTAACAGGCATGAGCCACGGCACCTGGCAAA AGTCATCTTTTGGTTTACTTCTATTGAACTGAAAAAGTCACAAATATATT TATATTTAATTAAATATATTTATATAAAAATATGGTATTTAGTATTATTA TTTTTAGAGACAGGGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCA CAATCATAGCTCACTGCAGCCTCAAGCTTCTGGGCTCAAGTGATCGTTCC ACCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACATGCCACCATACTCG GCTAATTATTTTATTTTATTTATGGGTCTCGCTATGTTTCCCAGGCTGGT CTCAAACTCCTGGCCTCAAGCGATTCTCTCACCTCGGCCTCCCAAAGCAC CG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	432	0.0023	-501	c.384 others(17): Show c.384+2387_384+2887del		FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	3/4						chr9	TogoVar
ITGAE_chr17_3709628_3806188	3710292	TGGCATGC others(494): Show TGGCATGCACCTGCAGTCCCAGCTACTCAGGAAGCTGAGGCATGAGAATC GATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCTACTGC ACTCCAGCCTGGGAGAAAGAGCAAGACTCTATCTCAAATAAATAAATAAA TAAATAAATTAATAAAATGAAAGTTTCCCTTGATTCCATATACTGAATCT GTTCCTAGTTCAAGTAATGGTAAAATTCTGGTGCCATTATAATATAATTA TGACTAGAAGACCCAGAAAATCTTAACCAAAAACCCCTCCTTGTAAATGT ATTAGAGATGTGCACAGAATAATGCAGTAGTGCAGATTATTTAAGACAGC AGGAGGCCGGGCGTGGCAACTCACGCCTGGAATCCCAGCACTTTGGGAAG CCGAGGTGAGCGGATCACTTGAAGTCGGGAGTTCAAGACCAGCCTGGCCG ACATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGTTGGGCGTG GC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02895.hp1 HG02886.hp1 HG02895.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0060 a0005c0005t0001g0061 a0005c0005t0001g0060 a0005c0005t0001g0061	2	302	0.0066	-501	c.40 others(11): Show c.4054_*4554del		ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding					4335		chr17	TogoVar
KALRN_chr3_124028369_124731325	124367629	GGGTTGGG others(494): Show GGGTTGGGGGGCTGACCGCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGTCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC TTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGC CA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(66): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02647.hp1 HG02723.hp2 HG02896.hp2 HG02965.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18983.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19077.hp1 NA19077.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(48): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0025 a0001c0027 a0001c0029 a0001c0030 a0001c0032 a0001c0036 a0001c0037 a0001c0038 a0001c0042 a0001c0043 a0001c0044 a0001c0046 a0001c0047 a0001c0054 a0001c0056 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0071 a0001c0072 a0001c0075 a0001c0078 a0002c0053 a0002c0070 a0003c0057 a0003c0076 a0007c0052 a0008c0048	a0001c0001t0003 a0001c0002t0007 a0001c0002t0017 others(57): Show a0001c0001t0003 a0001c0002t0007 a0001c0002t0017 a0001c0002t0024 a0001c0003t0001 a0001c0003t0029 a0001c0006t0001 a0001c0007t0002 a0001c0007t0003 a0001c0008t0002 a0001c0009t0001 a0001c0010t0002 a0001c0012t0004 a0001c0015t0001 a0001c0016t0011 a0001c0016t0025 a0001c0017t0005 a0001c0017t0021 a0001c0018t0005 a0001c0018t0026 a0001c0019t0004 a0001c0020t0008 a0001c0021t0001 a0001c0022t0001 a0001c0022t0031 a0001c0025t0001 a0001c0025t0002 a0001c0027t0005 a0001c0029t0020 a0001c0030t0002 a0001c0032t0003 a0001c0036t0002 a0001c0037t0005 a0001c0038t0002 a0001c0042t0003 a0001c0043t0006 a0001c0044t0015 a0001c0046t0002 a0001c0047t0009 a0001c0054t0001 a0001c0056t0002 a0001c0058t0001 a0001c0059t0014 a0001c0060t0006 a0001c0061t0001 a0001c0065t0009 a0001c0066t0001 a0001c0067t0016 a0001c0068t0013 a0001c0069t0022 a0001c0071t0003 a0001c0072t0001 a0001c0075t0003 a0001c0078t0001 a0002c0053t0004 a0002c0070t0023 a0003c0057t0002 a0003c0076t0001 a0007c0052t0008 a0008c0048t0003	a0001c0001t0003g0010 a0001c0001t0003g0112 a0001c0002t0007g0020 others(66): Show a0001c0001t0003g0010 a0001c0001t0003g0112 a0001c0002t0007g0020 a0001c0002t0017g0053 a0001c0002t0024g0006 a0001c0003t0001g0041 a0001c0003t0001g0045 a0001c0003t0029g0048 a0001c0006t0001g0013 a0001c0006t0001g0025 a0001c0006t0001g0069 a0001c0007t0002g0019 a0001c0007t0002g0051 a0001c0007t0003g0101 a0001c0008t0002g0071 a0001c0009t0001g0065 a0001c0009t0001g0070 a0001c0009t0001g0072 a0001c0010t0002g0067 a0001c0012t0004g0107 a0001c0015t0001g0046 a0001c0015t0001g0097 a0001c0016t0011g0064 a0001c0016t0025g0004 a0001c0017t0005g0043 a0001c0017t0021g0089 a0001c0018t0005g0009 a0001c0018t0026g0073 a0001c0019t0004g0104 a0001c0020t0008g0083 a0001c0020t0008g0084 a0001c0021t0001g0087 a0001c0022t0001g0008 a0001c0022t0031g0062 a0001c0025t0001g0044 a0001c0025t0002g0027 a0001c0027t0005g0032 a0001c0029t0020g0114 a0001c0030t0002g0109 a0001c0032t0003g0090 a0001c0036t0002g0054 a0001c0037t0005g0059 a0001c0038t0002g0028 a0001c0042t0003g0108 a0001c0043t0006g0106 a0001c0044t0015g0080 a0001c0046t0002g0095 a0001c0047t0009g0092 a0001c0054t0001g0057 a0001c0056t0002g0014 a0001c0058t0001g0016 a0001c0059t0014g0076 a0001c0060t0006g0099 a0001c0061t0001g0098 a0001c0065t0009g0093 a0001c0066t0001g0055 a0001c0067t0016g0103 a0001c0068t0013g0063 a0001c0069t0022g0102 a0001c0071t0003g0082 a0001c0072t0001g0060 a0001c0075t0003g0024 a0001c0078t0001g0056 a0002c0053t0004g0094 a0002c0070t0023g0086 a0003c0057t0002g0015 a0003c0076t0001g0068 a0007c0052t0008g0075 a0008c0048t0003g0007	69	116	0.5948	-501	c.177 others(21): Show c.1771-17213_1771-16713del		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	10/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
RNASE10_chr14_20500537_20518884	20506318	GGTCAGCC others(494): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGTCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCAGTCCAGGAGGGAGGTGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00609.hp1 others(62): Show HG00280.hp1 HG00323.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18950.hp2 NA19002.hp1 NA19011.hp2 NA19043.hp2 NA19068.hp2 NA19076.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 others(21): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0030 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0061 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0002c0002t0040 a0002c0002t0041 a0002c0002t0104	a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0020 others(44): Show a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0020 a0001c0001t0004g0035 a0001c0001t0004g0040 a0001c0001t0004g0054 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0195 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0006g0102 a0001c0001t0006g0130 a0001c0001t0006g0132 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0014g0013 a0001c0001t0014g0040 a0001c0001t0014g0108 a0001c0001t0014g0109 a0001c0001t0015g0010 a0001c0001t0016g0042 a0001c0001t0016g0104 a0001c0001t0030g0016 a0001c0001t0030g0020 a0001c0001t0034g0129 a0001c0001t0034g0131 a0001c0001t0043g0049 a0001c0001t0043g0133 a0001c0001t0044g0011 a0001c0001t0044g0171 a0001c0001t0061g0095 a0001c0001t0094g0016 a0001c0001t0095g0107 a0001c0001t0097g0103 a0001c0001t0098g0054 a0001c0001t0100g0099 a0001c0001t0101g0094 a0001c0001t0102g0101 a0001c0001t0103g0134 a0001c0001t0105g0170 a0001c0001t0106g0049 a0001c0001t0107g0100 a0002c0002t0040g0041 a0002c0002t0041g0097 a0002c0002t0041g0098 a0002c0002t0104g0096	65	396	0.1641	-501	c.-6+ others(13): Show c.-6+300_-6+800del		RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1						chr14	TogoVar
SLC12A7_chr5_1045384_1117063	1071056	GGGCATCA others(494): Show GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCA GCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAG CCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCAC AC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	118	0.0085	-501	c.224 others(19): Show c.2241+2076_2241+2576del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
ZC3H18_chr16_88565403_88636964	88596685	GGTTTCTA others(494): Show GGTTTCTATTGTCAGCACTTTTCTGTACTTGGACATTTTTTACAATGAGC TTTTGTTACTTGTTTAGTTACACACGTGATTTTGAATACTGCATGAGTAT TTTCAGAGGCAAACCATGAAGAGCTCTGTAGTGTGTTGAGTCTCAGATGG ATGACTGCATAGTCAGTTTTTCTTTAAATCTCTCTGAGGCTCTGGATTTT TGAACCCCCTATAGAATAACATTTCCCAACCTCTTTTGTTTTTTGTTGTT GTTTTTGAGAGAGACTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACG ATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGC TTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCACGTCCGGC TAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGG ATGGTCTTGATCTCTTGACGTCGTGAGCCACCACGCCTGGCCTCCCAACT TC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	378	0.0027	-501	c.689 others(16): Show c.689-1488_689-988del		ZC3H18	ENSG00000158545.16	transcript	ENST00000301011.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
ARHGEF10_chr8_1818926_1963641	1888932	GGTCTGTG others(493): Show GGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGAGACACTG AGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGAGG AAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTGAGGG GTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACACT GTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGAGG AGAGCGTGGGGTGAGGTTTATTAGGAGACACTGAATGGGGTGAGGGTTGT GAGGAGACATTGAGTGGGATGAGAGGTGTGAGGAGACACTGAATGTGGTG AGGGTTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAGGAGACACTG AGTGGGTAAGAGTTGTGAGGAGACACTGAGTGGGGTGAGGGGTATGTGAG GAGACAGTGATGTGAGGCATCTGTGAGGAGACACTGAGTGGGGTGAGGGG T	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(10): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG01106.hp2 HG01884.hp1 HG04228.hp2 NA18941.hp1 NA18982.hp1 NA18994.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0001c0003 a0001c0005 others(8): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0018 a0001c0035 a0001c0050 a0001c0132 a0005c0087 a0006c0093	a0001c0002t0001 a0001c0003t0020 a0001c0005t0001 others(9): Show a0001c0002t0001 a0001c0003t0020 a0001c0005t0001 a0001c0006t0001 a0001c0007t0003 a0001c0018t0008 a0001c0018t0028 a0001c0035t0001 a0001c0050t0002 a0001c0132t0020 a0005c0087t0002 a0006c0093t0002	a0001c0002t0001g0198 a0001c0003t0020g0083 a0001c0005t0001g0325 others(10): Show a0001c0002t0001g0198 a0001c0003t0020g0083 a0001c0005t0001g0325 a0001c0006t0001g0219 a0001c0006t0001g0264 a0001c0007t0003g0352 a0001c0018t0008g0295 a0001c0018t0028g0146 a0001c0035t0001g0045 a0001c0050t0002g0255 a0001c0132t0020g0084 a0005c0087t0002g0276 a0006c0093t0002g0197	13	363	0.0358	-500	c.118 others(19): Show c.1182+3226_1182+3725del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28						chr8	TogoVar
C7orf50_chr7_992006_1143247	1116477	AGGACCAG others(493): Show AGGACCAGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCA GTTCTAGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTACAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTACAGTTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGG ATGATGACATCACTACAGCTCTACGGACCGGCTTCCATCACCGACGTCCA CGCAGGATGATGACATCACTACAGCTCTACGGACAGGCTTCCATCACCAA CGCCCATGCAGGATGATGACATCACTACAGATCTAGGGACCGGCTTCCAT CACCGACGCCCACGCAGGATGATGACATGACTGCAGCTCTACGGACCGGC TTCCATCACCGACGTCCACGCAGGATGATGACATCACTGCAGTTCTAGGA CCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCAGTTC T	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp2 NA18906.hp1 HG03209.hp2 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008	a0001c0001t0003g0293 a0001c0001t0007g0150 a0001c0001t0008g0151 a0001c0001t0003g0293 a0001c0001t0007g0150 a0001c0001t0008g0151	3	326	0.0092	-500	c.129 others(19): Show c.129+10280_129+10779del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CD38_chr4_15773328_15858232	15791262	CCCCTCTG others(493): Show CCCCTCTGCCCGGCCAGCCACCCCGTCCGGGAGGGGGGAGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAG CCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGTCCGCCCGTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp1 others(33): Show HG00099.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01168.hp2 HG01257.hp1 HG01358.hp2 HG01517.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02622.hp1 HG02630.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18943.hp2 NA18954.hp1 NA18966.hp2 NA18968.hp1 NA19062.hp1 NA19088.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0028 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0047 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073	a0001c0001t0002g0008 a0001c0001t0002g0181 a0001c0001t0002g0188 others(32): Show a0001c0001t0002g0008 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0003g0198 a0001c0001t0007g0182 a0001c0001t0014g0214 a0001c0001t0015g0193 a0001c0001t0017g0186 a0001c0001t0018g0205 a0001c0001t0019g0184 a0001c0001t0024g0197 a0001c0001t0028g0213 a0001c0001t0038g0203 a0001c0001t0040g0204 a0001c0001t0045g0187 a0001c0001t0047g0185 a0001c0001t0068g0196 a0001c0001t0071g0180 a0001c0001t0072g0183 a0001c0001t0073g0195	36	344	0.1047	-500	c.233 others(19): Show c.233+12634_233+13133del		CD38	ENSG00000004468.13	transcript	ENST00000226279.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDH4_chr20_61247261_61945617	61783771	CGGGACAG others(493): Show CGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGT AATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCC CCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCG ATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCT CGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCT TGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGT AATCCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCC CCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCAAGGCCCTCCG ATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCT CGAGGCCCTCAGGTGTCTTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCT T	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0004 a0001c0006t0021g0004	1	106	0.0094	-500	c.576 others(19): Show c.576+10674_576+11173del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CROCC2_chr2_240901336_240998311	240907825	CCTCTACC others(493): Show CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA G	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01070.hp1 others(61): Show HG00558.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01255.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18966.hp1 NA18979.hp1 NA19004.hp2 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19082.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0024 a0034 a0037 a0038 a0047 a0056 a0057	a0001c0001 a0001c0020 a0001c0060 others(22): Show a0001c0001 a0001c0020 a0001c0060 a0001c0089 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0009c0010 a0011c0080 a0012c0013 a0013c0023 a0013c0076 a0014c0014 a0016c0092 a0017c0062 a0019c0015 a0024c0077 a0024c0091 a0034c0083 a0037c0088 a0038c0082 a0047c0090 a0056c0032 a0057c0031	a0001c0001t0001 a0001c0001t0003 a0001c0020t0001 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0020t0001 a0001c0060t0001 a0001c0089t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0005c0005t0003 a0009c0010t0001 a0011c0080t0001 a0012c0013t0001 a0013c0023t0001 a0013c0023t0008 a0013c0076t0001 a0014c0014t0001 a0016c0092t0001 a0017c0062t0001 a0019c0015t0001 a0024c0077t0001 a0024c0091t0001 a0034c0083t0001 a0037c0088t0003 a0038c0082t0001 a0047c0090t0001 a0056c0032t0001 a0057c0031t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(59): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0003g0003 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0159 a0001c0020t0001g0129 a0001c0060t0001g0150 a0001c0089t0001g0139 a0002c0002t0001g0120 a0002c0002t0001g0125 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0146 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0167 a0003c0003t0001g0137 a0003c0003t0001g0149 a0003c0003t0001g0158 a0004c0004t0001g0063 a0004c0004t0001g0109 a0004c0004t0001g0118 a0004c0004t0001g0119 a0004c0004t0001g0157 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0001g0138 a0005c0005t0003g0004 a0005c0005t0003g0160 a0009c0010t0001g0115 a0011c0080t0001g0142 a0012c0013t0001g0106 a0012c0013t0001g0121 a0012c0013t0001g0122 a0012c0013t0001g0123 a0012c0013t0001g0124 a0013c0023t0001g0114 a0013c0023t0008g0110 a0013c0076t0001g0105 a0014c0014t0001g0134 a0014c0014t0001g0135 a0016c0092t0001g0113 a0017c0062t0001g0161 a0019c0015t0001g0108 a0024c0077t0001g0111 a0024c0091t0001g0133 a0034c0083t0001g0136 a0037c0088t0003g0148 a0038c0082t0001g0147 a0047c0090t0001g0112 a0056c0032t0001g0104 a0057c0031t0001g0107	64	350	0.1829	-500	c.78+ others(15): Show c.78+1327_78+1826del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15931529	GGAATGAG others(493): Show GGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0133 a0001c0002t0133	a0001c0002t0133g0297 a0001c0002t0133g0297	1	386	0.0026	-500	c.198 others(17): Show c.198+2182_199-1929del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931609	GGAATGAG others(493): Show GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0041 a0001c0008t0041	a0001c0008t0041g0371 a0001c0008t0041g0371	1	386	0.0026	-500	c.198 others(17): Show c.198+2102_199-2009del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931681	CGAGGAGA others(493): Show CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG T	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0205 a0001c0004t0026g0205	1	386	0.0026	-500	c.198 others(17): Show c.198+2030_199-2081del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931821	TGAGGAGA others(493): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG03209.hp1 HG01109.hp2 HG02109.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0108 a0001c0006t0040 a0001c0006t0108	a0001c0006t0040g0126 a0001c0006t0040g0127 a0001c0006t0108g0128 a0001c0006t0040g0126 a0001c0006t0040g0127 a0001c0006t0108g0128	3	386	0.0078	-500	c.198 others(17): Show c.198+1890_199-2221del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar

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Search Results (Total: 10000 hits)