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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Select column to sort.

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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	status	chr	external
FAM90A22_chr8_7566995_7580006	7573735	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG00735.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0000 a0011c0009t0000	a0011c0009t0000g0049 a0011c0009t0000g0049	1	88	0.0114	0	c.324 others(5): Show c.324-5T>C		FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding	2/3					chr8	TogoVar
FAM90A22_chr8_7566995_7580006	7573738	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01346.hp2 HG02080.hp1 others(13): Show HG01168.hp1 HG01346.hp2 HG02080.hp1 HG02257.hp2 NA18747.hp2 NA18940.hp1 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18974.hp1 NA18992.hp2 NA19057.hp1 NA19064.hp2 NA19068.hp1 NA19078.hp1	a0002 a0008 a0015 others(4): Show a0002 a0008 a0015 a0022 a0024 a0025 a0026	a0002c0001 a0008c0008 a0015c0015 others(4): Show a0002c0001 a0008c0008 a0015c0015 a0022c0019 a0024c0026 a0025c0025 a0026c0027	a0002c0001t0000 a0008c0008t0000 a0015c0015t0000 others(4): Show a0002c0001t0000 a0008c0008t0000 a0015c0015t0000 a0022c0019t0000 a0024c0026t0000 a0025c0025t0000 a0026c0027t0000	a0002c0001t0000g0001 a0002c0001t0000g0017 a0008c0008t0000g0026 others(5): Show a0002c0001t0000g0001 a0002c0001t0000g0017 a0008c0008t0000g0026 a0015c0015t0000g0006 a0022c0019t0000g0018 a0024c0026t0000g0020 a0025c0025t0000g0019 a0026c0027t0000g0021	16	88	0.1818	0	c.324 others(5): Show c.324-8T>C		FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding	2/3					chr8	TogoVar
FAM90A22_chr8_7566995_7580006	7574392	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00558.hp2 HG00735.hp1 others(31): Show HG00438.hp2 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02165.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02738.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG04184.hp2 NA18747.hp1 NA18983.hp1 NA18983.hp2	a0001 a0005 a0011 others(11): Show a0001 a0005 a0011 a0012 a0013 a0017 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0038	a0001c0002 a0001c0013 a0001c0017 others(15): Show a0001c0002 a0001c0013 a0001c0017 a0001c0032 a0001c0040 a0005c0005 a0011c0009 a0012c0010 a0013c0016 a0017c0018 a0027c0034 a0028c0033 a0029c0029 a0030c0035 a0031c0031 a0032c0030 a0033c0036 a0038c0045	a0001c0002t0000 a0001c0013t0000 a0001c0017t0000 others(15): Show a0001c0002t0000 a0001c0013t0000 a0001c0017t0000 a0001c0032t0000 a0001c0040t0000 a0005c0005t0000 a0011c0009t0000 a0012c0010t0000 a0013c0016t0000 a0017c0018t0000 a0027c0034t0000 a0028c0033t0000 a0029c0029t0000 a0030c0035t0000 a0031c0031t0000 a0032c0030t0000 a0033c0036t0000 a0038c0045t0000	a0001c0002t0000g0009 a0001c0002t0000g0038 a0001c0002t0000g0042 others(27): Show a0001c0002t0000g0009 a0001c0002t0000g0038 a0001c0002t0000g0042 a0001c0002t0000g0045 a0001c0002t0000g0047 a0001c0002t0000g0051 a0001c0002t0000g0055 a0001c0002t0000g0056 a0001c0013t0000g0037 a0001c0013t0000g0046 a0001c0017t0000g0013 a0001c0032t0000g0041 a0001c0040t0000g0050 a0005c0005t0000g0010 a0005c0005t0000g0048 a0005c0005t0000g0053 a0011c0009t0000g0011 a0011c0009t0000g0049 a0012c0010t0000g0014 a0012c0010t0000g0015 a0013c0016t0000g0012 a0017c0018t0000g0016 a0027c0034t0000g0039 a0028c0033t0000g0044 a0029c0029t0000g0054 a0030c0035t0000g0043 a0031c0031t0000g0036 a0032c0030t0000g0040 a0033c0036t0000g0057 a0038c0045t0000g0062	34	88	0.3864	0	c.124 others(5): Show c.124-4A>G		FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding	1/3					chr8	TogoVar
FAM90A22_chr8_7566995_7580006	7574877	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00558.hp2 HG00735.hp1 others(32): Show HG00438.hp2 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02165.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG04184.hp2 NA18747.hp1 NA18983.hp1 NA18983.hp2	a0001 a0005 a0007 others(12): Show a0001 a0005 a0007 a0011 a0012 a0013 a0017 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0038	a0001c0002 a0001c0013 a0001c0017 others(16): Show a0001c0002 a0001c0013 a0001c0017 a0001c0032 a0001c0040 a0005c0005 a0007c0007 a0011c0009 a0012c0010 a0013c0016 a0017c0018 a0027c0034 a0028c0033 a0029c0029 a0030c0035 a0031c0031 a0032c0030 a0033c0036 a0038c0045	a0001c0002t0000 a0001c0013t0000 a0001c0017t0000 others(16): Show a0001c0002t0000 a0001c0013t0000 a0001c0017t0000 a0001c0032t0000 a0001c0040t0000 a0005c0005t0000 a0007c0007t0000 a0011c0009t0000 a0012c0010t0000 a0013c0016t0000 a0017c0018t0000 a0027c0034t0000 a0028c0033t0000 a0029c0029t0000 a0030c0035t0000 a0031c0031t0000 a0032c0030t0000 a0033c0036t0000 a0038c0045t0000	a0001c0002t0000g0009 a0001c0002t0000g0038 a0001c0002t0000g0042 others(28): Show a0001c0002t0000g0009 a0001c0002t0000g0038 a0001c0002t0000g0042 a0001c0002t0000g0045 a0001c0002t0000g0047 a0001c0002t0000g0051 a0001c0002t0000g0055 a0001c0002t0000g0056 a0001c0013t0000g0037 a0001c0013t0000g0046 a0001c0017t0000g0013 a0001c0032t0000g0041 a0001c0040t0000g0050 a0005c0005t0000g0010 a0005c0005t0000g0048 a0005c0005t0000g0053 a0007c0007t0000g0052 a0011c0009t0000g0011 a0011c0009t0000g0049 a0012c0010t0000g0014 a0012c0010t0000g0015 a0013c0016t0000g0012 a0017c0018t0000g0016 a0027c0034t0000g0039 a0028c0033t0000g0044 a0029c0029t0000g0054 a0030c0035t0000g0043 a0031c0031t0000g0036 a0032c0030t0000g0040 a0033c0036t0000g0057 a0038c0045t0000g0062	35	88	0.3977	0	c.123 others(5): Show c.123+7C>G		FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding	1/3					chr8	TogoVar
FAM90A23_chr8_7574644_7587653	7581387	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG04199.hp1 NA18940.hp2 others(2): Show HG00558.hp1 HG04199.hp1 NA18940.hp2 NA18944.hp1 NA19011.hp2	a0003 a0010 a0017 others(1): Show a0003 a0010 a0017 a0018	a0003c0004 a0010c0011 a0017c0021 others(1): Show a0003c0004 a0010c0011 a0017c0021 a0018c0020	a0003c0004t0000 a0010c0011t0000 a0017c0021t0000 others(1): Show a0003c0004t0000 a0010c0011t0000 a0017c0021t0000 a0018c0020t0000	a0003c0004t0000g0027 a0010c0011t0000g0014 a0017c0021t0000g0024 others(1): Show a0003c0004t0000g0027 a0010c0011t0000g0014 a0017c0021t0000g0024 a0018c0020t0000g0023	5	142	0.0352	0	c.324 others(5): Show c.324-8T>C		FAM90A23	ENSG00000285765.1	transcript	ENST00000648435.1	protein_coding	2/3					chr8	TogoVar
FAM90A23_chr8_7574644_7587653	7582041	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(98): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18947.hp2 NA18953.hp2 NA18963.hp2 NA18978.hp2 NA18988.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA20129.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0008 a0009 a0011 a0012 a0015 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0015 a0001c0029 others(23): Show a0001c0001 a0001c0015 a0001c0029 a0002c0002 a0002c0003 a0002c0010 a0002c0032 a0004c0005 a0008c0012 a0008c0034 a0009c0009 a0011c0013 a0012c0014 a0015c0043 a0024c0041 a0025c0040 a0026c0031 a0027c0039 a0028c0037 a0029c0035 a0030c0036 a0031c0033 a0032c0038 a0033c0030 a0034c0042 a0035c0017	a0001c0001t0000 a0001c0015t0000 a0001c0029t0000 others(23): Show a0001c0001t0000 a0001c0015t0000 a0001c0029t0000 a0002c0002t0000 a0002c0003t0000 a0002c0010t0000 a0002c0032t0000 a0004c0005t0000 a0008c0012t0000 a0008c0034t0000 a0009c0009t0000 a0011c0013t0000 a0012c0014t0000 a0015c0043t0000 a0024c0041t0000 a0025c0040t0000 a0026c0031t0000 a0027c0039t0000 a0028c0037t0000 a0029c0035t0000 a0030c0036t0000 a0031c0033t0000 a0032c0038t0000 a0033c0030t0000 a0034c0042t0000 a0035c0017t0000	a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0021 others(50): Show a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0021 a0001c0001t0000g0022 a0001c0001t0000g0039 a0001c0001t0000g0056 a0001c0001t0000g0058 a0001c0001t0000g0069 a0001c0001t0000g0070 a0001c0001t0000g0073 a0001c0015t0000g0016 a0001c0029t0000g0051 a0002c0002t0000g0006 a0002c0002t0000g0013 a0002c0002t0000g0015 a0002c0002t0000g0017 a0002c0002t0000g0020 a0002c0002t0000g0048 a0002c0002t0000g0053 a0002c0002t0000g0062 a0002c0002t0000g0067 a0002c0002t0000g0071 a0002c0003t0000g0003 a0002c0003t0000g0040 a0002c0003t0000g0049 a0002c0003t0000g0059 a0002c0003t0000g0065 a0002c0003t0000g0072 a0002c0010t0000g0012 a0002c0032t0000g0064 a0004c0005t0000g0005 a0004c0005t0000g0035 a0004c0005t0000g0036 a0004c0005t0000g0043 a0008c0012t0000g0052 a0008c0012t0000g0075 a0008c0034t0000g0057 a0009c0009t0000g0011 a0011c0013t0000g0018 a0012c0014t0000g0019 a0015c0043t0000g0063 a0024c0041t0000g0047 a0025c0040t0000g0068 a0026c0031t0000g0060 a0027c0039t0000g0054 a0028c0037t0000g0061 a0029c0035t0000g0045 a0030c0036t0000g0046 a0031c0033t0000g0044 a0032c0038t0000g0074 a0033c0030t0000g0055 a0034c0042t0000g0066 a0035c0017t0000g0050	101	142	0.7113	0	c.124 others(5): Show c.124-4A>G		FAM90A23	ENSG00000285765.1	transcript	ENST00000648435.1	protein_coding	1/3					chr8	TogoVar
FAM90A23_chr8_7574644_7587653	7582524	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(80): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18947.hp2 NA18953.hp2 NA18963.hp2 NA18978.hp2 NA18988.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19067.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp2	a0001 a0002 a0008 others(16): Show a0001 a0002 a0008 a0009 a0011 a0012 a0015 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0029 a0002c0002 others(21): Show a0001c0001 a0001c0029 a0002c0002 a0002c0003 a0002c0010 a0002c0032 a0008c0012 a0008c0034 a0009c0009 a0011c0013 a0012c0014 a0015c0043 a0024c0041 a0025c0040 a0026c0031 a0027c0039 a0028c0037 a0029c0035 a0030c0036 a0031c0033 a0032c0038 a0033c0030 a0034c0042 a0035c0017	a0001c0001t0000 a0001c0029t0000 a0002c0002t0000 others(21): Show a0001c0001t0000 a0001c0029t0000 a0002c0002t0000 a0002c0003t0000 a0002c0010t0000 a0002c0032t0000 a0008c0012t0000 a0008c0034t0000 a0009c0009t0000 a0011c0013t0000 a0012c0014t0000 a0015c0043t0000 a0024c0041t0000 a0025c0040t0000 a0026c0031t0000 a0027c0039t0000 a0028c0037t0000 a0029c0035t0000 a0030c0036t0000 a0031c0033t0000 a0032c0038t0000 a0033c0030t0000 a0034c0042t0000 a0035c0017t0000	a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0021 others(40): Show a0001c0001t0000g0001 a0001c0001t0000g0002 a0001c0001t0000g0021 a0001c0001t0000g0022 a0001c0001t0000g0056 a0001c0001t0000g0058 a0001c0001t0000g0069 a0001c0001t0000g0070 a0001c0001t0000g0073 a0001c0029t0000g0051 a0002c0002t0000g0006 a0002c0002t0000g0020 a0002c0002t0000g0048 a0002c0002t0000g0053 a0002c0002t0000g0062 a0002c0002t0000g0067 a0002c0002t0000g0071 a0002c0003t0000g0003 a0002c0003t0000g0049 a0002c0003t0000g0059 a0002c0003t0000g0065 a0002c0003t0000g0072 a0002c0010t0000g0012 a0002c0032t0000g0064 a0008c0012t0000g0052 a0008c0012t0000g0075 a0008c0034t0000g0057 a0009c0009t0000g0011 a0011c0013t0000g0018 a0012c0014t0000g0019 a0015c0043t0000g0063 a0024c0041t0000g0047 a0025c0040t0000g0068 a0026c0031t0000g0060 a0027c0039t0000g0054 a0028c0037t0000g0061 a0029c0035t0000g0045 a0030c0036t0000g0046 a0031c0033t0000g0044 a0032c0038t0000g0074 a0033c0030t0000g0055 a0034c0042t0000g0066 a0035c0017t0000g0050	83	142	0.5845	0	c.123 others(5): Show c.123+7C>G		FAM90A23	ENSG00000285765.1	transcript	ENST00000648435.1	protein_coding	1/3					chr8	TogoVar
FAM90A7_chr8_7551700_7564712	7559098	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp2 NA20129.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0000 a0017c0016t0000	a0017c0016t0000g0017 a0017c0016t0000g0017	1	18	0.0556	0	c.124 others(5): Show c.124-4A>G		FAM90A7	ENSG00000285975.1	transcript	ENST00000650288.1	protein_coding	1/3					chr8	TogoVar
FAM90A7_chr8_7551700_7564712	7559583	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20129.hp2 NA20129.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0000 a0017c0016t0000	a0017c0016t0000g0017 a0017c0016t0000g0017	1	18	0.0556	0	c.123 others(5): Show c.123+7C>G		FAM90A7	ENSG00000285975.1	transcript	ENST00000650288.1	protein_coding	1/3					chr8	TogoVar
FAM90A8_chr8_7733387_7746396	7738516	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00558.hp2 HG00673.hp2 others(66): Show HG00423.hp1 HG00558.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0021 a0022 a0023 a0024 a0025 a0026 a0031 a0036 a0037 a0039 a0040 a0042 a0043 a0044 a0045	a0001c0001 a0002c0002 a0002c0023 others(27): Show a0001c0001 a0002c0002 a0002c0023 a0003c0003 a0003c0006 a0005c0005 a0006c0007 a0007c0009 a0010c0010 a0012c0012 a0013c0018 a0014c0017 a0015c0015 a0016c0016 a0017c0014 a0021c0039 a0022c0037 a0023c0040 a0024c0038 a0025c0041 a0026c0036 a0031c0046 a0036c0043 a0037c0050 a0039c0020 a0040c0019 a0042c0026 a0043c0022 a0044c0025 a0045c0024	a0001c0001t0000 a0002c0002t0000 a0002c0023t0000 others(27): Show a0001c0001t0000 a0002c0002t0000 a0002c0023t0000 a0003c0003t0000 a0003c0006t0000 a0005c0005t0000 a0006c0007t0000 a0007c0009t0000 a0010c0010t0000 a0012c0012t0000 a0013c0018t0000 a0014c0017t0000 a0015c0015t0000 a0016c0016t0000 a0017c0014t0000 a0021c0039t0000 a0022c0037t0000 a0023c0040t0000 a0024c0038t0000 a0025c0041t0000 a0026c0036t0000 a0031c0046t0000 a0036c0043t0000 a0037c0050t0000 a0039c0020t0000 a0040c0019t0000 a0042c0026t0000 a0043c0022t0000 a0044c0025t0000 a0045c0024t0000	a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0016 others(48): Show a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0016 a0001c0001t0000g0035 a0001c0001t0000g0036 a0001c0001t0000g0037 a0001c0001t0000g0038 a0001c0001t0000g0040 a0001c0001t0000g0046 a0001c0001t0000g0056 a0001c0001t0000g0061 a0002c0002t0000g0001 a0002c0002t0000g0015 a0002c0002t0000g0049 a0002c0002t0000g0052 a0002c0002t0000g0053 a0002c0002t0000g0055 a0002c0023t0000g0015 a0003c0003t0000g0043 a0003c0003t0000g0057 a0003c0006t0000g0042 a0005c0005t0000g0008 a0005c0005t0000g0060 a0006c0007t0000g0002 a0006c0007t0000g0012 a0007c0009t0000g0013 a0007c0009t0000g0050 a0007c0009t0000g0051 a0010c0010t0000g0002 a0012c0012t0000g0002 a0012c0012t0000g0048 a0013c0018t0000g0002 a0014c0017t0000g0059 a0015c0015t0000g0002 a0016c0016t0000g0002 a0017c0014t0000g0045 a0021c0039t0000g0003 a0022c0037t0000g0058 a0023c0040t0000g0003 a0024c0038t0000g0034 a0025c0041t0000g0039 a0026c0036t0000g0044 a0031c0046t0000g0013 a0036c0043t0000g0041 a0037c0050t0000g0047 a0039c0020t0000g0054 a0040c0019t0000g0014 a0042c0026t0000g0001 a0043c0022t0000g0014 a0044c0025t0000g0001 a0045c0024t0000g0001	69	108	0.6389	0	c.123 others(5): Show c.123+7C>G		FAM90A8	ENSG00000285937.1	transcript	ENST00000647775.1	protein_coding	1/3					chr8	TogoVar
FAM90A8_chr8_7733387_7746396	7738999	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0055 a0002c0002t0000g0055	1	108	0.0093	0	c.124 others(5): Show c.124-5C>G		FAM90A8	ENSG00000285937.1	transcript	ENST00000647775.1	protein_coding	1/3					chr8	TogoVar
FAM90A8_chr8_7733387_7746396	7739000	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0055 a0002c0002t0000g0055	1	108	0.0093	0	c.124 others(5): Show c.124-4A>C		FAM90A8	ENSG00000285937.1	transcript	ENST00000647775.1	protein_coding	1/3					chr8	TogoVar
FAM90A8_chr8_7733387_7746396	7739000	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00558.hp2 HG00673.hp2 others(56): Show HG00423.hp1 HG00558.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG03017.hp2 HG03491.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0005 others(22): Show a0001 a0002 a0005 a0006 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0021 a0022 a0023 a0024 a0025 a0026 a0036 a0037 a0039 a0040 a0042 a0043 a0044 a0045	a0001c0001 a0002c0002 a0002c0023 others(23): Show a0001c0001 a0002c0002 a0002c0023 a0005c0005 a0006c0007 a0010c0010 a0012c0012 a0013c0018 a0014c0017 a0015c0015 a0016c0016 a0017c0014 a0021c0039 a0022c0037 a0023c0040 a0024c0038 a0025c0041 a0026c0036 a0036c0043 a0037c0050 a0039c0020 a0040c0019 a0042c0026 a0043c0022 a0044c0025 a0045c0024	a0001c0001t0000 a0002c0002t0000 a0002c0023t0000 others(23): Show a0001c0001t0000 a0002c0002t0000 a0002c0023t0000 a0005c0005t0000 a0006c0007t0000 a0010c0010t0000 a0012c0012t0000 a0013c0018t0000 a0014c0017t0000 a0015c0015t0000 a0016c0016t0000 a0017c0014t0000 a0021c0039t0000 a0022c0037t0000 a0023c0040t0000 a0024c0038t0000 a0025c0041t0000 a0026c0036t0000 a0036c0043t0000 a0037c0050t0000 a0039c0020t0000 a0040c0019t0000 a0042c0026t0000 a0043c0022t0000 a0044c0025t0000 a0045c0024t0000	a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0016 others(38): Show a0001c0001t0000g0002 a0001c0001t0000g0003 a0001c0001t0000g0016 a0001c0001t0000g0035 a0001c0001t0000g0036 a0001c0001t0000g0037 a0001c0001t0000g0038 a0001c0001t0000g0040 a0001c0001t0000g0046 a0001c0001t0000g0056 a0002c0002t0000g0001 a0002c0002t0000g0015 a0002c0002t0000g0052 a0002c0002t0000g0053 a0002c0023t0000g0015 a0005c0005t0000g0008 a0005c0005t0000g0060 a0006c0007t0000g0002 a0006c0007t0000g0012 a0010c0010t0000g0002 a0012c0012t0000g0002 a0012c0012t0000g0048 a0013c0018t0000g0002 a0014c0017t0000g0059 a0015c0015t0000g0002 a0016c0016t0000g0002 a0017c0014t0000g0045 a0021c0039t0000g0003 a0022c0037t0000g0058 a0023c0040t0000g0003 a0024c0038t0000g0034 a0025c0041t0000g0039 a0026c0036t0000g0044 a0036c0043t0000g0041 a0037c0050t0000g0047 a0039c0020t0000g0054 a0040c0019t0000g0014 a0042c0026t0000g0001 a0043c0022t0000g0014 a0044c0025t0000g0001 a0045c0024t0000g0001	59	108	0.5463	0	c.124 others(5): Show c.124-4A>G		FAM90A8	ENSG00000285937.1	transcript	ENST00000647775.1	protein_coding	1/3					chr8	TogoVar
FAM90A9_chr8_7756330_7769340	7761459	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00621.hp1 others(52): Show HG00099.hp1 HG00099.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01516.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02080.hp1 HG02300.hp1 HG02615.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03098.hp2 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18973.hp1 NA18974.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0007 a0010 a0012 a0013 a0022 a0025 a0026 a0027 a0032 a0033 a0034	a0001c0001 a0001c0018 a0002c0002 others(12): Show a0001c0001 a0001c0018 a0002c0002 a0004c0004 a0007c0007 a0010c0010 a0012c0013 a0013c0012 a0022c0024 a0025c0030 a0026c0029 a0027c0028 a0032c0015 a0033c0014 a0034c0036	a0001c0001t0000 a0001c0018t0000 a0002c0002t0000 others(12): Show a0001c0001t0000 a0001c0018t0000 a0002c0002t0000 a0004c0004t0000 a0007c0007t0000 a0010c0010t0000 a0012c0013t0000 a0013c0012t0000 a0022c0024t0000 a0025c0030t0000 a0026c0029t0000 a0027c0028t0000 a0032c0015t0000 a0033c0014t0000 a0034c0036t0000	a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0013 others(27): Show a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0013 a0001c0001t0000g0030 a0001c0001t0000g0031 a0001c0001t0000g0032 a0001c0001t0000g0035 a0001c0001t0000g0042 a0001c0001t0000g0043 a0001c0001t0000g0044 a0001c0018t0000g0034 a0002c0002t0000g0005 a0002c0002t0000g0008 a0002c0002t0000g0009 a0002c0002t0000g0038 a0004c0004t0000g0003 a0007c0007t0000g0007 a0007c0007t0000g0033 a0010c0010t0000g0014 a0012c0013t0000g0015 a0012c0013t0000g0037 a0013c0012t0000g0007 a0013c0012t0000g0015 a0022c0024t0000g0036 a0025c0030t0000g0039 a0026c0029t0000g0041 a0027c0028t0000g0005 a0032c0015t0000g0001 a0033c0014t0000g0040 a0034c0036t0000g0003	55	92	0.5978	0	c.123 others(5): Show c.123+7C>G		FAM90A9	ENSG00000285607.1	transcript	ENST00000648344.1	protein_coding	1/3					chr8	TogoVar
FAM90A9_chr8_7756330_7769340	7761943	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00642.hp1 others(39): Show HG00099.hp1 HG00099.hp2 HG00642.hp1 HG00733.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01261.hp1 HG01516.hp1 HG01943.hp1 HG01981.hp1 HG02080.hp1 HG02300.hp1 HG02615.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03098.hp2 HG03710.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18973.hp1 NA18974.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0007 a0010 a0012 a0013 a0022 a0026 a0032 a0033 a0034	a0001c0001 a0001c0018 a0002c0002 others(10): Show a0001c0001 a0001c0018 a0002c0002 a0004c0004 a0007c0007 a0010c0010 a0012c0013 a0013c0012 a0022c0024 a0026c0029 a0032c0015 a0033c0014 a0034c0036	a0001c0001t0000 a0001c0018t0000 a0002c0002t0000 others(10): Show a0001c0001t0000 a0001c0018t0000 a0002c0002t0000 a0004c0004t0000 a0007c0007t0000 a0010c0010t0000 a0012c0013t0000 a0013c0012t0000 a0022c0024t0000 a0026c0029t0000 a0032c0015t0000 a0033c0014t0000 a0034c0036t0000	a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0013 others(22): Show a0001c0001t0000g0001 a0001c0001t0000g0003 a0001c0001t0000g0013 a0001c0001t0000g0030 a0001c0001t0000g0031 a0001c0001t0000g0032 a0001c0001t0000g0035 a0001c0001t0000g0042 a0001c0001t0000g0043 a0001c0001t0000g0044 a0001c0018t0000g0034 a0002c0002t0000g0038 a0004c0004t0000g0003 a0007c0007t0000g0007 a0007c0007t0000g0033 a0010c0010t0000g0014 a0012c0013t0000g0015 a0012c0013t0000g0037 a0013c0012t0000g0007 a0013c0012t0000g0015 a0022c0024t0000g0036 a0026c0029t0000g0041 a0032c0015t0000g0001 a0033c0014t0000g0040 a0034c0036t0000g0003	42	92	0.4565	0	c.124 others(5): Show c.124-4A>G		FAM90A9	ENSG00000285607.1	transcript	ENST00000648344.1	protein_coding	1/3					chr8	TogoVar
FAM90A9_chr8_7756330_7769340	7762152	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0044 a0001c0001t0000g0044	1	92	0.0109	0	c.323 others(5): Show c.323+6C>T		FAM90A9	ENSG00000285607.1	transcript	ENST00000648344.1	protein_coding	2/3					chr8	TogoVar
FAM90A9_chr8_7756330_7769340	7762597	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG02080.hp2 HG02300.hp2 others(3): Show HG00621.hp2 HG02080.hp2 HG02300.hp2 NA18939.hp2 NA18962.hp2 NA18974.hp2	a0006 a0011 a0015 a0006 a0011 a0015	a0006c0006 a0011c0011 a0015c0016 a0006c0006 a0011c0011 a0015c0016	a0006c0006t0000 a0011c0011t0000 a0015c0016t0000 a0006c0006t0000 a0011c0011t0000 a0015c0016t0000	a0006c0006t0000g0006 a0011c0011t0000g0010 a0015c0016t0000g0006 a0006c0006t0000g0006 a0011c0011t0000g0010 a0015c0016t0000g0006	6	92	0.0652	0	c.324 others(5): Show c.324-8T>C		FAM90A9	ENSG00000285607.1	transcript	ENST00000648344.1	protein_coding	2/3					chr8	TogoVar
FAM90A9_chr8_7756330_7769340	7762712	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0000 a0024c0021t0000	a0024c0021t0000g0026 a0024c0021t0000g0026	1	92	0.0109	0	c.431 others(3): Show c.431G>C	p.Arg others(6): Show p.Arg144Thr	FAM90A9	ENSG00000285607.1	transcript	ENST00000648344.1	protein_coding	3/4	431/1395	431/1395	144/464		chr8	TogoVar
FAM91A1_chr8_123763439_123820452	123787756	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01169.hp2 HG01192.hp2 others(2): Show HG01168.hp2 HG01169.hp2 HG01192.hp2 HG02258.hp1 HG02572.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0003 a0008c0013t0001 a0001c0001t0001 a0001c0001t0003 a0008c0013t0001	a0001c0001t0001g0166 a0001c0001t0003g0012 a0008c0013t0001g0162 a0001c0001t0001g0166 a0001c0001t0003g0012 a0008c0013t0001g0162	5	338	0.0148	0	c.127 others(6): Show c.1278+6T>C		FAM91A1	ENSG00000176853.16	transcript	ENST00000334705.12	protein_coding	14/23					chr8	TogoVar
FAM91A1_chr8_123763439_123820452	123799773	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0003 a0004c0019t0003	a0004c0019t0003g0014 a0004c0019t0003g0014	1	338	0.0030	0	c.169 others(4): Show c.1697G>A	p.Ser others(6): Show p.Ser566Asn	FAM91A1	ENSG00000176853.16	transcript	ENST00000334705.12	protein_coding	18/24	1961/5529	1697/2517	566/838		chr8	TogoVar
FAM91A1_chr8_123763439_123820452	123810267	C C	CTT CTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01891.hp1 HG01891.hp2 others(7): Show HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02258.hp2 HG02630.hp2 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0003t0003	a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 others(4): Show a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0003g0007 a0001c0002t0003g0068 a0001c0003t0002g0204 a0001c0003t0003g0205	10	338	0.0296	2	c.226 others(15): Show c.2262-5_2262-4dupTT		FAM91A1	ENSG00000176853.16	transcript	ENST00000334705.12	protein_coding	22/23				INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM98C_chr19_38398093_38414084	38403216	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(56): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01081.hp1 HG01346.hp1 HG01361.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02602.hp2 HG02738.hp1 HG03239.hp1 HG03710.hp1 HG03831.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18972.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18986.hp2 NA18991.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19055.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19080.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0002 a0001c0011 a0003c0012 others(1): Show a0001c0002 a0001c0011 a0003c0012 a0012c0013	a0001c0002t0001 a0001c0011t0001 a0003c0012t0001 others(1): Show a0001c0002t0001 a0001c0011t0001 a0003c0012t0001 a0012c0013t0001	a0001c0002t0001g0002 a0001c0002t0001g0022 a0001c0002t0001g0027 others(9): Show a0001c0002t0001g0002 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0011t0001g0002 a0003c0012t0001g0002 a0012c0013t0001g0002	59	380	0.1553	0	c.63G others(2): Show c.63G>C	p.Leu others(5): Show p.Leu21Leu	FAM98C	ENSG00000130244.13	transcript	ENST00000252530.10	protein_coding	1/8	124/1313	63/1050	21/349		chr19	TogoVar
FAM98C_chr19_38398093_38414084	38405419	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0004 a0008c0009t0004	a0008c0009t0004g0023 a0008c0009t0004g0023	2	380	0.0053	0	c.631 others(3): Show c.631T>C	p.Trp others(6): Show p.Trp211Arg	FAM98C	ENSG00000130244.13	transcript	ENST00000252530.10	protein_coding	5/8	692/1313	631/1050	211/349		chr19	TogoVar
FAM9A_chrX_8785795_8806383	8791179	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19003.hp1 NA19068.hp1 NA19003.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0007 a0001c0001t0001 a0003c0004t0007	a0001c0001t0001g0047 a0003c0004t0007g0032 a0001c0001t0001g0047 a0003c0004t0007g0032	2	303	0.0066	-1	c.32 others(6): Show c.32-8delT		FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	9/9					chrX	TogoVar
FAM9A_chrX_8785795_8806383	8799524	CGGCGGCC others(1108): Show CGGCGGCCGGGCTGGAGGGACCCACTCGAACTGTCCCCCACAACACCCCT GCTTGTCGCCTCCCCACACACTCCGCCCCTCCTCCTCCCCTTCCCCCATC CCCTCACCCCACGAACCCCACACCCCTCCCCTCCCCTGCCCCCATCCCTG GCCCCACACCCGGCCCCTGCCTATCTGCCACTCCCCCGACCCTCCCCCCT CTGCCACCACCCCTCCCTTGCTCCCCTCTCCACCACCTCCATTCCCCCAA GCCCCCCTCCCCTGCCCCACCCCTCCCCACTGCACACATCCACAAGTCCC CGGGACAATCCCGGGCCCTGGGGATCACTCAGGTGTCTCCAGCTCCCTCC CTGCCCTGGCCCATCCCAGCCCACCCTCAGGGCCTCGCCCTGACCCAGGC CCCAGGCAACGATGCCAGGGCCATTTCCTGCTTTGAAAACCTGGGGCCTC TTAGCACGTGCATGGTGGACTCCAAAGCCACAAAGGGGCCAGGGGTCTCG GGCTGCCCATGTGCCCCCCGCGCAGAGAGCAAACAGACCATCTCCTTGGG CGTGCACCTTCTTTCGTGGCCCCCTGGGCGGCCGTAACTTGAGCTTCCAA CTGAGCTTTGGCAGCCTTCCTGCTGCGCTTCCTGCCCACGGGCTCCATGG TTGGCTGTCCTGGGAAGTTAGAGGCGATCCCTGAACCTGGTTGAGTGCAA AGTCAAACTAAGTAAGCTAAGGAAACAGGATATGTGAAAGGAGAGCCAAC GGGATCTCGGATTCAAGAAAGGGTGGGGCTGGCCCACCCCGTGTATCCTG TGGGAGCAGGAGGGGTCGGAGAAGATGCCAGTGTCCCCTCCTATCCTTCG TGGCCCGTCCAGCCCGTCCCTGGGGCTGGCTGCAGAACTCACAGCTGCCT CGCACACCTGAATGGCCCCTGCAGGATCCTTGCGGTGTCCCTGGGACAGA GTTCAGCCCTGCCCCTGTGTGCCCCAGAGACCTGCGTGGCCCGGAGGACC ACGGGTGTCACAGGACCTCCCCAGCCATCTCTGGGGGAATGTCAGGGGCT GCACTGCCACTTGCCTGCCTGGATGCCCAGGTGACCCCTCGTGACCCCAA GTGTCCTGTCCTGACG	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG03239.hp1 HG03239.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0005 a0005c0010t0005	a0005c0010t0005g0089 a0005c0010t0005g0089	1	303	0.0033	-1115	c.-38 others(14): Show c.-38-430_92-431del		FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	2/10					chrX	TogoVar
FAM9A_chrX_8785795_8806383	8799835	CGGGCCCT others(1108): Show CGGGCCCTGGGGATCACTCAGGTGTCTCCAGCTCCCTCCCTGCCCTGGCC CATCCCAGCCCACCCTCAGGGCCTCGCCCTGACCCAGGCCCCAGGCAACG ATGCCAGGGCCATTTCCTGCTTTGAAAACCTGGGGCCTCTTAGCACGTGC ATGGTGGACTCCAAAGCCACAAAGGGGCCAGGGGTCTCGGGCTGCCCATG TGCCCCCCGCGCAGAGAGCAAACAGACCATCTCCTTGGGCGTGCACCTTC TTTCGTGGCCCCCTGGGCGGCCGTAACTTGAGCTTCCAACTGAGCTTTGG CAGCCTTCCTGCTGCGCTTCCTGCCCACGGGCTCCATGGTTGGCTGTCCT GGGAAGTTAGAGGCGATCCCTGAACCTGGTTGAGTGCAAAGTCAAACTAA GTAAGCTAAGGAAACAGGATATGTGAAAGGAGAGCCAACGGGATCTCGGA TTCAAGAAAGGGTGGGGCTGGCCCACCCCGTGTATCCTGTGGGAGCAGGA GGGGTCGGAGAAGATGCCAGTGTCCCCTCCTATCCTTCGTGGCCCGTCCA GCCCGTCCCTGGGGCTGGCTGCAGAACTCACAGCTGCCTCGCACACCTGA ATGGCCCCTGCAGGATCCTTGCGGTGTCCCTGGGACAGAGTTCAGCCCTG CCCCTGTGTGCCCCAGAGACCTGCGTGGCCCGGAGGACCACGGGTGTCAC AGGACCTCCCCAGCCATCTCTGGGGGAATGTCAGGGGCTGCACTGCCACT TGCCTGCCTGGATGCCCAGGTGACCCCTCGTGACCCCAAGTGTCCTGTCC TGACGGGCGGCCGGGCTGGAGGGACCCACTCGAACTGTCCCCCACAACAC CCCTGCTTGTCGCCTCCCCACACACTCCGCCCCTCCTCCTCCCCTTCCCC CATCCCCTCACCCCACGAACCCCACACCCCTCCCCTCCCCTGCCCCCATC CCTGGCCCCACACCCGGCCCCTGCCTGTCTGCCACTTCCCCGACCCTCCA CCCTCTGCCACCACCCCTCCCTTGCTCCCCTCTCCACCCCCTCCATTCCC CCAAGCCCCCCTCCCCTGCCCCACCCCTACCCACTGCACACATGCACAAG TCCCGGGGACACTCCT	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	NA19084.hp2 NA19084.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0005 a0005c0010t0005	a0005c0010t0005g0095 a0005c0010t0005g0095	1	303	0.0033	-1115	c.-39 others(14): Show c.-39+361_91+245del		FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	2/10					chrX	TogoVar
FAM9B_chrX_9019232_9039127	9025384	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	258	0.0039	-1	c.32 others(6): Show c.32-8delT		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding	8/8					chrX	TogoVar
FAM9B_chrX_9019232_9039127	9027859	A A	AG AG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0056 a0003c0003t0004g0056	1	258	0.0039	1	c.492 others(6): Show c.492+8dupC		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding	7/8					chrX	TogoVar
FAM9B_chrX_9019232_9039127	9032131	T T	TGCAGTA TGCAGTA	disruptive_inframe_insertion others(1): Show disruptive_inframe_insertion splice_region_variant	MODERATE	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0056 a0003c0003t0004g0056	1	258	0.0039	6	c.174 others(13): Show c.174_179dupTACTGC	p.Ala others(17): Show p.Ala60_Glu61insThrAla	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding	4/9	544/2103	179/561	60/186		chrX	TogoVar
FAN1_chr15_30898915_30948108	30937112	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp2 NA20300.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0076 a0001c0001t0006g0087 a0001c0001t0006g0076 a0001c0001t0006g0087	2	303	0.0066	0	c.291 others(6): Show c.2917-7T>G		FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	13/14					chr15	TogoVar
FANCA_chr16_89732549_89821647	89748766	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0027 a0027	a0027c0037 a0027c0037	a0027c0037t0001 a0027c0037t0001	a0027c0037t0001g0301 a0027c0037t0001g0301	1	334	0.0030	0	c.324 others(4): Show c.3241A>G	p.Ile others(7): Show p.Ile1081Val	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	33/43	3273/5452	3241/4368	1081/1455		chr16	TogoVar
FANCA_chr16_89732549_89821647	89749906	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00438.hp1 HG00597.hp2 others(30): Show HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG01175.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02165.hp2 HG02523.hp2 HG03491.hp2 HG03492.hp2 NA18612.hp2 NA18940.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18968.hp1 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19062.hp2 NA19070.hp1 NA19074.hp1 NA19087.hp1	a0005 a0008 a0016 others(3): Show a0005 a0008 a0016 a0024 a0034 a0036	a0005c0005 a0008c0008 a0016c0019 others(3): Show a0005c0005 a0008c0008 a0016c0019 a0024c0040 a0034c0046 a0036c0045	a0005c0005t0001 a0005c0005t0014 a0008c0008t0001 others(4): Show a0005c0005t0001 a0005c0005t0014 a0008c0008t0001 a0016c0019t0001 a0024c0040t0001 a0034c0046t0001 a0036c0045t0001	a0005c0005t0001g0036 a0005c0005t0001g0064 a0005c0005t0001g0065 others(30): Show a0005c0005t0001g0036 a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066 a0005c0005t0001g0067 a0005c0005t0001g0068 a0005c0005t0001g0181 a0005c0005t0001g0182 a0005c0005t0001g0183 a0005c0005t0001g0186 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0191 a0005c0005t0001g0192 a0005c0005t0001g0194 a0005c0005t0001g0195 a0005c0005t0001g0197 a0005c0005t0001g0198 a0005c0005t0014g0196 a0008c0008t0001g0015 a0008c0008t0001g0016 a0008c0008t0001g0018 a0008c0008t0001g0019 a0008c0008t0001g0020 a0008c0008t0001g0021 a0008c0008t0001g0167 a0016c0019t0001g0108 a0016c0019t0001g0156 a0024c0040t0001g0017 a0034c0046t0001g0094 a0036c0045t0001g0185	33	334	0.0988	0	c.306 others(6): Show c.3067-4T>C		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	31/42					chr16	TogoVar
FANCA_chr16_89732549_89821647	89762029	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00438.hp1 HG00597.hp2 others(30): Show HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG01175.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02165.hp2 HG02523.hp2 HG03491.hp2 HG03492.hp2 NA18612.hp2 NA18940.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18968.hp1 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19062.hp2 NA19070.hp1 NA19074.hp1 NA19087.hp1	a0005 a0008 a0016 others(3): Show a0005 a0008 a0016 a0024 a0034 a0036	a0005c0005 a0008c0008 a0016c0019 others(3): Show a0005c0005 a0008c0008 a0016c0019 a0024c0040 a0034c0046 a0036c0045	a0005c0005t0001 a0005c0005t0014 a0008c0008t0001 others(4): Show a0005c0005t0001 a0005c0005t0014 a0008c0008t0001 a0016c0019t0001 a0024c0040t0001 a0034c0046t0001 a0036c0045t0001	a0005c0005t0001g0036 a0005c0005t0001g0064 a0005c0005t0001g0065 others(30): Show a0005c0005t0001g0036 a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066 a0005c0005t0001g0067 a0005c0005t0001g0068 a0005c0005t0001g0181 a0005c0005t0001g0182 a0005c0005t0001g0183 a0005c0005t0001g0186 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0191 a0005c0005t0001g0192 a0005c0005t0001g0194 a0005c0005t0001g0195 a0005c0005t0001g0197 a0005c0005t0001g0198 a0005c0005t0014g0196 a0008c0008t0001g0015 a0008c0008t0001g0016 a0008c0008t0001g0018 a0008c0008t0001g0019 a0008c0008t0001g0020 a0008c0008t0001g0021 a0008c0008t0001g0167 a0016c0019t0001g0108 a0016c0019t0001g0156 a0024c0040t0001g0017 a0034c0046t0001g0094 a0036c0045t0001g0185	33	334	0.0988	0	c.277 others(6): Show c.2779-7T>C		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	28/42					chr16	TogoVar
FANCA_chr16_89732549_89821647	89771670	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(192): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(12): Show a0001 a0002 a0007 a0011 a0015 a0018 a0021 a0023 a0025 a0027 a0029 a0030 a0031 a0033 a0037	a0001c0001 a0001c0026 a0001c0029 others(24): Show a0001c0001 a0001c0026 a0001c0029 a0001c0030 a0001c0033 a0001c0034 a0001c0052 a0002c0002 a0002c0006 a0002c0035 a0002c0038 a0002c0041 a0002c0051 a0007c0009 a0007c0057 a0011c0012 a0015c0020 a0018c0017 a0021c0053 a0023c0042 a0025c0039 a0027c0037 a0029c0028 a0030c0027 a0031c0031 a0033c0025 a0037c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0026t0001 a0001c0029t0005 a0001c0030t0001 a0001c0033t0006 a0001c0034t0001 a0001c0052t0001 a0002c0002t0001 a0002c0006t0005 a0002c0006t0008 a0002c0006t0011 a0002c0035t0001 a0002c0038t0001 a0002c0041t0001 a0002c0051t0001 a0007c0009t0001 a0007c0057t0001 a0011c0012t0001 a0015c0020t0001 a0018c0017t0001 a0021c0053t0001 a0023c0042t0001 a0025c0039t0001 a0027c0037t0001 a0029c0028t0001 a0030c0027t0001 a0031c0031t0001 a0033c0025t0003 a0037c0048t0001	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0046 others(190): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0241 a0001c0001t0002g0099 a0001c0001t0003g0040 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0059 a0001c0001t0003g0101 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0209 a0001c0001t0006g0062 a0001c0001t0006g0168 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0210 a0001c0001t0010g0013 a0001c0001t0010g0035 a0001c0001t0010g0178 a0001c0001t0012g0125 a0001c0001t0016g0134 a0001c0026t0001g0023 a0001c0029t0005g0103 a0001c0030t0001g0130 a0001c0033t0006g0171 a0001c0034t0001g0104 a0001c0052t0001g0211 a0002c0002t0001g0001 a0002c0002t0001g0022 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0054 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0098 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0193 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0216 a0002c0006t0005g0025 a0002c0006t0005g0217 a0002c0006t0005g0218 a0002c0006t0005g0219 a0002c0006t0005g0223 a0002c0006t0005g0229 a0002c0006t0008g0215 a0002c0006t0008g0220 a0002c0006t0008g0224 a0002c0006t0008g0225 a0002c0006t0008g0226 a0002c0006t0011g0227 a0002c0006t0011g0228 a0002c0035t0001g0110 a0002c0038t0001g0077 a0002c0041t0001g0221 a0002c0051t0001g0032 a0007c0009t0001g0322 a0007c0009t0001g0323 a0007c0009t0001g0324 a0007c0009t0001g0325 a0007c0009t0001g0326 a0007c0009t0001g0329 a0007c0057t0001g0328 a0011c0012t0001g0003 a0011c0012t0001g0006 a0011c0012t0001g0007 a0015c0020t0001g0002 a0018c0017t0001g0244 a0018c0017t0001g0277 a0021c0053t0001g0321 a0023c0042t0001g0041 a0025c0039t0001g0184 a0027c0037t0001g0301 a0029c0028t0001g0096 a0030c0027t0001g0200 a0031c0031t0001g0055 a0033c0025t0003g0180 a0037c0048t0001g0093	195	334	0.5838	0	c.215 others(6): Show c.2151+8T>C		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	23/42					chr16	TogoVar
FANCA_chr16_89732549_89821647	89771678	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00735.hp1 HG01109.hp2 others(3): Show HG00099.hp1 HG00735.hp1 HG01109.hp2 HG01358.hp2 HG01516.hp2 HG03834.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0287 a0009c0010t0002g0288 a0009c0010t0002g0289 others(3): Show a0009c0010t0002g0287 a0009c0010t0002g0288 a0009c0010t0002g0289 a0009c0010t0002g0296 a0009c0010t0002g0298 a0009c0010t0002g0299	6	334	0.0180	0	c.215 others(4): Show c.2151G>T	p.Met others(6): Show p.Met717Ile	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	23/43	2183/5452	2151/4368	717/1455		chr16	TogoVar
FANCA_chr16_89732549_89821647	89783108	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	334	0.0030	0	c.147 others(6): Show c.1471-6C>G		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	15/42					chr16	TogoVar
FANCA_chr16_89732549_89821647	89784963	GCCTGTGT others(58): Show GCCTGTGTGGAGAGAAGAGCGTGAAGCCCAGGACAGCCAGGCGCGGCTGC ACCACCTAGGCAGTGT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18950.hp1 NA18950.hp1	a0033 a0033	a0033c0025 a0033c0025	a0033c0025t0003 a0033c0025t0003	a0033c0025t0003g0180 a0033c0025t0003g0180	1	334	0.0030	-65	c.136 others(77): Show c.1360-64_1360delACACTGCCTAGGTGGTGCAGCCGCGCCTGGCTG TCCTGGGCTTCACGCTCTTCTCTCCACACAGG	p.Ala others(5): Show p.Ala454fs	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	15/43	1392/5452	1360/4368	454/1455		chr16	TogoVar
FANCA_chr16_89732549_89821647	89784971	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01884.hp2 HG02109.hp2 others(6): Show HG01243.hp1 HG01884.hp2 HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp2 HG03098.hp1 HG03130.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0035 a0002c0002 a0002c0035	a0002c0002t0001 a0002c0035t0001 a0002c0002t0001 a0002c0035t0001	a0002c0002t0001g0031 a0002c0002t0001g0037 a0002c0002t0001g0038 others(6): Show a0002c0002t0001g0031 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0078 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0035t0001g0110	9	334	0.0270	0	c.136 others(6): Show c.1360-7C>T		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	14/42					chr16	TogoVar
FANCA_chr16_89732549_89821647	89791535	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0056 a0006c0056	a0006c0056t0004 a0006c0056t0004	a0006c0056t0004g0320 a0006c0056t0004g0320	1	334	0.0030	0	c.122 others(4): Show c.1227C>T	p.Asp others(6): Show p.Asp409Asp	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	14/43	1259/5452	1227/4368	409/1455		chr16	TogoVar
FANCA_chr16_89732549_89821647	89796026	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00558.hp1 HG00597.hp2 others(31): Show HG00323.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01175.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02523.hp2 HG03491.hp2 HG03492.hp2 NA18612.hp2 NA18940.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18967.hp2 NA18968.hp1 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA19002.hp1 NA19062.hp2 NA19070.hp1 NA19074.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0008 a0025 a0034 a0035 a0036	a0001c0052 a0002c0002 a0005c0005 others(5): Show a0001c0052 a0002c0002 a0005c0005 a0008c0008 a0025c0039 a0034c0046 a0035c0044 a0036c0045	a0001c0052t0001 a0002c0002t0001 a0005c0005t0001 others(6): Show a0001c0052t0001 a0002c0002t0001 a0005c0005t0001 a0005c0005t0014 a0008c0008t0001 a0025c0039t0001 a0034c0046t0001 a0035c0044t0001 a0036c0045t0001	a0001c0052t0001g0211 a0002c0002t0001g0022 a0002c0002t0001g0193 others(31): Show a0001c0052t0001g0211 a0002c0002t0001g0022 a0002c0002t0001g0193 a0005c0005t0001g0036 a0005c0005t0001g0065 a0005c0005t0001g0066 a0005c0005t0001g0067 a0005c0005t0001g0068 a0005c0005t0001g0181 a0005c0005t0001g0182 a0005c0005t0001g0183 a0005c0005t0001g0186 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0191 a0005c0005t0001g0192 a0005c0005t0001g0194 a0005c0005t0001g0195 a0005c0005t0001g0197 a0005c0005t0001g0198 a0005c0005t0014g0196 a0008c0008t0001g0015 a0008c0008t0001g0016 a0008c0008t0001g0018 a0008c0008t0001g0019 a0008c0008t0001g0020 a0008c0008t0001g0021 a0008c0008t0001g0167 a0025c0039t0001g0184 a0034c0046t0001g0094 a0035c0044t0001g0155 a0036c0045t0001g0185	34	334	0.1018	0	c.894 others(5): Show c.894-8A>G		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	10/42					chr16	TogoVar
FANCB_chrX_14838405_14878069	14850676	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01891.hp1 HG02109.hp1 others(9): Show HG01106.hp1 HG01891.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02965.hp1 HG02976.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0132 a0001c0001t0001g0133 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136	12	274	0.0438	-1	c.132 others(7): Show c.1327-3delT		FANCB	ENSG00000181544.16	transcript	ENST00000650831.1	protein_coding	6/9					chrX	TogoVar
FANCB_chrX_14838405_14878069	14857956	T T	TAATA TAATA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0130	3	274	0.0110	4	c.110 others(17): Show c.1105-6_1105-3dupTATT		FANCB	ENSG00000181544.16	transcript	ENST00000650831.1	protein_coding	4/9					chrX	TogoVar
FANCC_chr9_95094054_95322709	95107272	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01243.hp2 HG02970.hp2 HG01081.hp1 HG01243.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274	3	278	0.0108	0	c.133 others(6): Show c.1330-3C>T		FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	13/14					chr9	TogoVar
FANCC_chr9_95094054_95322709	95111636	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0252 a0006c0008t0001g0252	1	278	0.0036	0	c.115 others(4): Show c.1156T>C	p.Ser others(6): Show p.Ser386Pro	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	13/15	1418/4592	1156/1677	386/558		chr9	TogoVar
FANCC_chr9_95094054_95322709	95135342	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02976.hp2 HG03098.hp1 others(1): Show HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0007 a0003c0004 a0005c0007	a0003c0004t0008 a0003c0004t0018 a0005c0007t0027 a0003c0004t0008 a0003c0004t0018 a0005c0007t0027	a0003c0004t0008g0106 a0003c0004t0008g0115 a0003c0004t0018g0107 others(1): Show a0003c0004t0008g0106 a0003c0004t0008g0115 a0003c0004t0018g0107 a0005c0007t0027g0110	4	278	0.0144	0	c.843 others(5): Show c.843+4C>T		FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	8/14					chr9	TogoVar
FANCC_chr9_95094054_95322709	95317521	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	278	0.0036	0	c.-79 others(5): Show c.-79+5G>A		FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	1/14					chr9	TogoVar
FANCD2_chr3_10021437_10106932	10035158	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00639.hp2 HG00741.hp2 others(78): Show HG00408.hp1 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18948.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp1 NA18978.hp2 NA18985.hp1 NA19056.hp1 NA19080.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0009 a0011 a0015	a0001c0011 a0002c0002 a0002c0012 others(7): Show a0001c0011 a0002c0002 a0002c0012 a0002c0020 a0003c0004 a0006c0006 a0007c0007 a0009c0010 a0011c0021 a0015c0014	a0001c0011t0002 a0001c0011t0003 a0002c0002t0002 others(14): Show a0001c0011t0002 a0001c0011t0003 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0017 a0002c0012t0005 a0002c0020t0002 a0003c0004t0003 a0006c0006t0002 a0006c0006t0014 a0006c0006t0015 a0007c0007t0003 a0009c0010t0003 a0011c0021t0005 a0015c0014t0013	a0001c0011t0002g0199 a0001c0011t0003g0239 a0002c0002t0002g0179 others(78): Show a0001c0011t0002g0199 a0001c0011t0003g0239 a0002c0002t0002g0179 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0200 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0005g0177 a0002c0002t0005g0181 a0002c0002t0005g0213 a0002c0002t0005g0215 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0005g0230 a0002c0002t0005g0231 a0002c0002t0006g0176 a0002c0002t0006g0197 a0002c0002t0006g0201 a0002c0002t0006g0202 a0002c0002t0006g0204 a0002c0002t0009g0180 a0002c0002t0009g0216 a0002c0002t0017g0178 a0002c0012t0005g0193 a0002c0012t0005g0194 a0002c0020t0002g0227 a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0004t0003g0164 a0003c0004t0003g0165 a0003c0004t0003g0166 a0003c0004t0003g0167 a0003c0004t0003g0168 a0006c0006t0002g0221 a0006c0006t0002g0223 a0006c0006t0014g0222 a0006c0006t0015g0220 a0007c0007t0003g0155 a0007c0007t0003g0156 a0007c0007t0003g0157 a0009c0010t0003g0158 a0009c0010t0003g0159 a0011c0021t0005g0182 a0015c0014t0013g0154	81	242	0.3347	-2	c.378 others(13): Show c.378-6_378-5delTT		FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	5/43				INFO_REALIGN_3_PRIME	chr3	TogoVar
FANCD2_chr3_10021437_10106932	10052379	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	242	0.0041	0	c.154 others(6): Show c.1546-8T>C		FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	17/43					chr3	TogoVar
FANCD2_chr3_10021437_10106932	10063786	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0170 a0004c0005t0001g0170	1	242	0.0041	0	c.182 others(6): Show c.1828-6C>T		FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	20/43					chr3	TogoVar
FANCE_chr6_35447338_35472102	35462914	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18951.hp1 NA18971.hp1 NA18984.hp2 others(2): Show NA18951.hp1 NA18971.hp1 NA18984.hp2 NA19010.hp1 NA19075.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0015 a0001c0006t0001g0069 a0001c0006t0001g0015 a0001c0006t0001g0069	5	402	0.0124	0	c.150 others(4): Show c.1509C>T	p.Asn others(6): Show p.Asn503Asn	FANCE	ENSG00000112039.6	transcript	ENST00000229769.3	protein_coding	9/10	1717/2576	1509/1611	503/536		chr6	TogoVar

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