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
ARSK_chr5_95550101_95610102	95601071	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0030 a0005c0007t0002g0109 a0005c0007t0002g0030 a0005c0007t0002g0109	2	336	0.0060	0	c.132 others(4): Show c.1321G>C	p.Asp others(6): Show p.Asp441His	ARSK	ENSG00000164291.17	transcript	ENST00000380009.9	protein_coding	7/8	1499/3365	1321/1611	441/536		chr5	TogoVar
ARSL_chrX_2929521_2969341	2949733	AG AG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19060.hp1 NA19060.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0181 a0013c0025t0001g0181	1	328	0.0031	-1	c.431 others(6): Show c.431-7delC		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	5/10					chrX	TogoVar
ARSL_chrX_2929521_2969341	2953135	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 NA18949.hp2 NA18951.hp1 others(6): Show HG00597.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18973.hp2 NA18979.hp2 NA18999.hp2 NA19004.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0068 a0002c0002t0003g0094 others(5): Show a0002c0002t0003g0005 a0002c0002t0003g0068 a0002c0002t0003g0094 a0002c0002t0003g0112 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0254	9	328	0.0274	0	c.430 others(5): Show c.430+8C>T		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	5/10					chrX	TogoVar
ART1_chr11_3640128_3669416	3660371	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0058 a0002c0011t0001g0058	1	394	0.0025	0	c.844 others(5): Show c.844+8G>A		ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	3/4					chr11	TogoVar
ART3_chr4_76069709_76117786	76107801	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0247 a0007c0008t0001g0247	1	392	0.0026	0	c.103 others(6): Show c.1036+8G>A		ART3	ENSG00000156219.18	transcript	ENST00000355810.9	protein_coding	11/11					chr4	TogoVar
ART3_chr4_76069709_76117786	76112378	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0179	1	392	0.0026	0	c.103 others(6): Show c.1037-8G>T		ART3	ENSG00000156219.18	transcript	ENST00000355810.9	protein_coding	11/11					chr4	TogoVar
ART5_chr11_3633512_3646992	3641799	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp1 HG03041.hp1 HG03139.hp1 others(2): Show HG01433.hp1 HG03041.hp1 HG03139.hp1 HG06807.hp1 NA18906.hp1	a0004 a0006 a0015 a0004 a0006 a0015	a0004c0021 a0006c0008 a0015c0011 a0004c0021 a0006c0008 a0015c0011	a0004c0021t0009 a0006c0008t0008 a0006c0008t0009 others(2): Show a0004c0021t0009 a0006c0008t0008 a0006c0008t0009 a0006c0008t0015 a0015c0011t0008	a0004c0021t0009g0094 a0006c0008t0008g0056 a0006c0008t0009g0093 others(2): Show a0004c0021t0009g0094 a0006c0008t0008g0056 a0006c0008t0009g0093 a0006c0008t0015g0092 a0015c0011t0008g0055	5	454	0.0110	0	c.57+ others(4): Show c.57+7C>A		ART5	ENSG00000167311.14	transcript	ENST00000397068.8	protein_coding	1/3					chr11	TogoVar
ARTN_chr1_43928801_43942240	43936294	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00438.hp1 HG00558.hp1 others(38): Show HG00408.hp2 HG00438.hp1 HG00558.hp1 HG01074.hp1 HG01243.hp2 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02523.hp1 HG02559.hp2 HG02647.hp2 HG03130.hp2 HG03704.hp2 NA18942.hp1 NA18951.hp1 NA18956.hp2 NA18957.hp2 NA18972.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18993.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0003g0004 a0001c0001t0003g0009 others(2): Show a0001c0001t0001g0016 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0005g0009	41	394	0.1041	0	c.200 others(5): Show c.200-8C>T		ARTN	ENSG00000117407.17	transcript	ENST00000372359.10	protein_coding	4/4					chr1	TogoVar
ARVCF_chr22_19964896_20021823	19979087	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp2 HG03225.hp1 HG03486.hp1 HG02886.hp2 HG03225.hp1 HG03486.hp1	a0008 a0015 a0008 a0015	a0008c0013 a0015c0024 a0008c0013 a0015c0024	a0008c0013t0002 a0015c0024t0002 a0008c0013t0002 a0015c0024t0002	a0008c0013t0002g0096 a0008c0013t0002g0098 a0015c0024t0002g0097 a0008c0013t0002g0096 a0008c0013t0002g0098 a0015c0024t0002g0097	3	374	0.0080	0	c.139 others(6): Show c.1397-7C>T		ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding	6/19					chr22	TogoVar
ARVCF_chr22_19964896_20021823	19990812	G G	A A	splice_region_variant splice_region_variant	LOW	HG01891.hp1 HG02818.hp2 HG02965.hp1 others(1): Show HG01891.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0010 a0007c0010t0010	a0007c0010t0010g0035 a0007c0010t0010g0143 a0007c0010t0010g0144 a0007c0010t0010g0035 a0007c0010t0010g0143 a0007c0010t0010g0144	4	374	0.0107	0	c.-18 others(3): Show c.-18C>T		ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding	3/20					chr22	TogoVar
ARVCF_chr22_19964896_20021823	20016590	T T	G G	splice_region_variant splice_region_variant	LOW	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0025 a0001c0033t0025	a0001c0033t0025g0246 a0001c0033t0025g0246	1	374	0.0027	0	c.-74 others(3): Show c.-74A>C		ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding	1/20					chr22	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(163): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0060 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0177 a0001c0001t0004g0027 a0001c0001t0006g0015 a0001c0001t0006g0102 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0010g0070 a0001c0001t0010g0121 a0001c0001t0010g0146 a0001c0001t0010g0256 a0001c0001t0010g0261 a0001c0001t0010g0267 a0001c0001t0010g0269 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0008 a0001c0001t0012g0123 a0001c0001t0012g0134 a0001c0001t0012g0151 a0001c0001t0014g0001 a0001c0001t0014g0061 a0001c0001t0014g0079 a0001c0001t0015g0059 a0001c0001t0015g0142 a0001c0001t0015g0152 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0020g0168 a0001c0001t0021g0171 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0001t0030g0005 a0001c0001t0031g0268 a0001c0001t0032g0131 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0004t0007g0162 a0001c0006t0006g0176 a0001c0007t0004g0020 a0001c0008t0003g0073 a0001c0011t0002g0132 a0002c0012t0006g0167	173	362	0.4779	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375	INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102878379	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0308 a0001c0005t0001g0308	1	362	0.0028	0	c.611 others(3): Show c.611G>A	p.Gly others(6): Show p.Gly204Asp	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	8/11	734/2450	611/1128	204/375		chr10	TogoVar
ASAH1_chr8_18050992_18089107	18061748	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0279 a0001c0007t0023g0279	1	420	0.0024	0	c.649 others(5): Show c.649-8T>C		ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	8/13					chr8	TogoVar
ASAH1_chr8_18050992_18089107	18067221	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0218 a0001c0008t0006g0218	1	420	0.0024	0	c.381 others(3): Show c.381A>G	p.Leu others(6): Show p.Leu127Leu	ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	5/14	430/2779	381/1188	127/395		chr8	TogoVar
ASAH1_chr8_18050992_18089107	18069785	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0001c0009 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0007t0023 a0001c0008t0006 a0001c0009t0001 a0005c0005t0001 a0005c0005t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(124): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0002g0042 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0235 a0001c0001t0002g0251 a0001c0001t0003g0159 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0006g0047 a0001c0001t0006g0154 a0001c0001t0006g0215 a0001c0001t0006g0217 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0227 a0001c0001t0007g0058 a0001c0001t0007g0064 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0260 a0001c0001t0012g0050 a0001c0001t0012g0262 a0001c0001t0013g0281 a0001c0001t0014g0027 a0001c0001t0015g0162 a0001c0001t0015g0181 a0001c0001t0016g0043 a0001c0001t0020g0076 a0001c0001t0021g0057 a0001c0001t0022g0082 a0001c0001t0031g0117 a0001c0001t0032g0176 a0001c0001t0034g0186 a0001c0007t0023g0279 a0001c0008t0006g0218 a0001c0009t0001g0094 a0005c0005t0001g0213 a0005c0005t0011g0046 a0005c0005t0011g0211 a0005c0005t0011g0212	178	420	0.4238	0	c.303 others(5): Show c.303+7G>A		ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	4/13					chr8	TogoVar
ASAH1_chr8_18050992_18089107	18071302	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18986.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0001c0009 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0007t0023 a0001c0008t0006 a0001c0009t0001 a0005c0005t0001 a0005c0005t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(124): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0002g0042 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0235 a0001c0001t0002g0251 a0001c0001t0003g0159 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0006g0047 a0001c0001t0006g0154 a0001c0001t0006g0215 a0001c0001t0006g0217 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0227 a0001c0001t0007g0058 a0001c0001t0007g0064 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0260 a0001c0001t0012g0050 a0001c0001t0012g0262 a0001c0001t0013g0281 a0001c0001t0014g0027 a0001c0001t0015g0162 a0001c0001t0015g0181 a0001c0001t0016g0043 a0001c0001t0020g0076 a0001c0001t0021g0057 a0001c0001t0022g0082 a0001c0001t0031g0117 a0001c0001t0032g0176 a0001c0001t0034g0186 a0001c0007t0023g0279 a0001c0008t0006g0218 a0001c0009t0001g0094 a0005c0005t0001g0213 a0005c0005t0011g0046 a0005c0005t0011g0211 a0005c0005t0011g0212	178	420	0.4238	0	c.214 others(3): Show c.214G>A	p.Val others(5): Show p.Val72Met	ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	3/14	263/2779	214/1188	72/395		chr8	TogoVar
ASAH1_chr8_18050992_18089107	18075590	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00438.hp2 HG01167.hp1 others(41): Show HG00323.hp2 HG00438.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01952.hp1 HG02083.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18945.hp2 NA18949.hp2 NA18967.hp2 NA18972.hp1 NA18995.hp1 NA18999.hp1 NA19004.hp2 NA19043.hp1 NA19054.hp2 NA19086.hp1 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0005 a0001c0001 a0001c0007 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0007t0023 a0005c0005t0001 a0005c0005t0011	a0001c0001t0001g0072 a0001c0001t0004g0010 a0001c0001t0004g0011 others(33): Show a0001c0001t0001g0072 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0029 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0007g0058 a0001c0001t0007g0064 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0260 a0001c0001t0020g0076 a0001c0001t0021g0057 a0001c0001t0022g0082 a0001c0007t0023g0279 a0005c0005t0001g0213 a0005c0005t0011g0046 a0005c0005t0011g0211 a0005c0005t0011g0212	44	420	0.1048	0	c.79- others(4): Show c.79-3C>T		ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	1/13					chr8	TogoVar
ASAH2B_chr10_50734936_50764255	50743009	C C	T T	splice_region_variant splice_region_variant	LOW	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0001 a0001c0001t0073g0001	1	414	0.0024	0	c.-5C others(2): Show c.-5C>T		ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	2/6					chr10	TogoVar
ASAH2B_chr10_50734936_50764255	50754545	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	414	0.0024	0	c.294 others(5): Show c.294-6C>T		ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	5/5					chr10	TogoVar
ASAH2_chr10_50179861_50256516	50189586	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0010 a0012	a0002c0001 a0002c0006 a0002c0016 others(7): Show a0002c0001 a0002c0006 a0002c0016 a0002c0022 a0002c0024 a0003c0003 a0003c0008 a0005c0012 a0010c0025 a0012c0014	a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 others(67): Show a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0008 a0002c0001t0011 a0002c0001t0016 a0002c0001t0017 a0002c0001t0018 a0002c0001t0021 a0002c0001t0026 a0002c0001t0027 a0002c0001t0029 a0002c0001t0030 a0002c0001t0035 a0002c0001t0039 a0002c0001t0040 a0002c0001t0041 a0002c0001t0042 a0002c0001t0043 a0002c0001t0054 a0002c0001t0057 a0002c0001t0058 a0002c0001t0059 a0002c0001t0060 a0002c0001t0062 a0002c0001t0063 a0002c0001t0104 a0002c0001t0105 a0002c0001t0108 a0002c0001t0111 a0002c0001t0112 a0002c0001t0113 a0002c0001t0115 a0002c0006t0002 a0002c0006t0004 a0002c0006t0101 a0002c0006t0106 a0002c0006t0114 a0002c0016t0003 a0002c0022t0040 a0002c0024t0041 a0003c0003t0001 a0003c0003t0005 a0003c0003t0014 a0003c0003t0015 a0003c0003t0023 a0003c0003t0024 a0003c0003t0031 a0003c0003t0032 a0003c0003t0039 a0003c0003t0047 a0003c0003t0067 a0003c0003t0070 a0003c0003t0072 a0003c0003t0073 a0003c0003t0075 a0003c0003t0078 a0003c0003t0079 a0003c0003t0081 a0003c0003t0086 a0003c0003t0088 a0003c0003t0089 a0003c0003t0092 a0003c0003t0100 a0003c0008t0001 a0003c0008t0014 a0005c0012t0016 a0010c0025t0061 a0012c0014t0001	a0002c0001t0002g0005 a0002c0001t0002g0024 a0002c0001t0002g0182 others(205): Show a0002c0001t0002g0005 a0002c0001t0002g0024 a0002c0001t0002g0182 a0002c0001t0002g0183 a0002c0001t0002g0185 a0002c0001t0002g0221 a0002c0001t0002g0228 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0231 a0002c0001t0002g0232 a0002c0001t0002g0233 a0002c0001t0002g0237 a0002c0001t0002g0239 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0248 a0002c0001t0002g0253 a0002c0001t0002g0259 a0002c0001t0002g0264 a0002c0001t0003g0235 a0002c0001t0003g0236 a0002c0001t0003g0241 a0002c0001t0003g0242 a0002c0001t0004g0023 a0002c0001t0004g0030 a0002c0001t0004g0116 a0002c0001t0004g0179 a0002c0001t0004g0211 a0002c0001t0004g0226 a0002c0001t0004g0247 a0002c0001t0004g0249 a0002c0001t0004g0258 a0002c0001t0004g0260 a0002c0001t0007g0003 a0002c0001t0007g0038 a0002c0001t0007g0044 a0002c0001t0007g0045 a0002c0001t0007g0047 a0002c0001t0007g0048 a0002c0001t0007g0049 a0002c0001t0007g0051 a0002c0001t0007g0054 a0002c0001t0008g0123 a0002c0001t0008g0309 a0002c0001t0008g0313 a0002c0001t0008g0315 a0002c0001t0008g0316 a0002c0001t0008g0319 a0002c0001t0008g0323 a0002c0001t0008g0330 a0002c0001t0008g0343 a0002c0001t0011g0238 a0002c0001t0016g0133 a0002c0001t0016g0246 a0002c0001t0016g0250 a0002c0001t0016g0255 a0002c0001t0016g0263 a0002c0001t0017g0032 a0002c0001t0017g0321 a0002c0001t0017g0333 a0002c0001t0017g0334 a0002c0001t0017g0340 a0002c0001t0018g0194 a0002c0001t0018g0202 a0002c0001t0018g0265 a0002c0001t0018g0312 a0002c0001t0018g0324 a0002c0001t0018g0326 a0002c0001t0021g0053 a0002c0001t0021g0175 a0002c0001t0021g0195 a0002c0001t0021g0339 a0002c0001t0021g0345 a0002c0001t0026g0029 a0002c0001t0026g0184 a0002c0001t0026g0234 a0002c0001t0026g0262 a0002c0001t0027g0033 a0002c0001t0027g0224 a0002c0001t0027g0311 a0002c0001t0029g0322 a0002c0001t0029g0325 a0002c0001t0029g0337 a0002c0001t0030g0178 a0002c0001t0030g0193 a0002c0001t0030g0328 a0002c0001t0035g0251 a0002c0001t0035g0254 a0002c0001t0035g0256 a0002c0001t0039g0327 a0002c0001t0040g0310 a0002c0001t0041g0329 a0002c0001t0042g0331 a0002c0001t0042g0332 a0002c0001t0043g0308 a0002c0001t0043g0335 a0002c0001t0054g0243 a0002c0001t0054g0257 a0002c0001t0057g0338 a0002c0001t0058g0336 a0002c0001t0059g0341 a0002c0001t0060g0317 a0002c0001t0062g0320 a0002c0001t0063g0240 a0002c0001t0104g0227 a0002c0001t0105g0225 a0002c0001t0108g0252 a0002c0001t0111g0039 a0002c0001t0112g0043 a0002c0001t0113g0046 a0002c0001t0115g0042 a0002c0006t0002g0105 a0002c0006t0002g0277 a0002c0006t0004g0076 a0002c0006t0004g0085 a0002c0006t0101g0273 a0002c0006t0106g0058 a0002c0006t0114g0302 a0002c0016t0003g0097 a0002c0022t0040g0132 a0002c0024t0041g0314 a0003c0003t0001g0002 a0003c0003t0001g0020 a0003c0003t0001g0052 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0124 a0003c0003t0001g0126 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0146 a0003c0003t0001g0148 a0003c0003t0001g0152 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0158 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0186 a0003c0003t0001g0190 a0003c0003t0001g0201 a0003c0003t0001g0210 a0003c0003t0001g0222 a0003c0003t0005g0115 a0003c0003t0005g0147 a0003c0003t0005g0173 a0003c0003t0005g0191 a0003c0003t0005g0196 a0003c0003t0005g0209 a0003c0003t0014g0128 a0003c0003t0014g0151 a0003c0003t0014g0161 a0003c0003t0014g0163 a0003c0003t0014g0170 a0003c0003t0015g0022 a0003c0003t0015g0131 a0003c0003t0015g0134 a0003c0003t0015g0192 a0003c0003t0015g0197 a0003c0003t0015g0198 a0003c0003t0023g0140 a0003c0003t0023g0142 a0003c0003t0023g0159 a0003c0003t0023g0166 a0003c0003t0024g0122 a0003c0003t0024g0145 a0003c0003t0024g0154 a0003c0003t0024g0165 a0003c0003t0024g0181 a0003c0003t0031g0021 a0003c0003t0031g0199 a0003c0003t0032g0019 a0003c0003t0032g0125 a0003c0003t0039g0149 a0003c0003t0047g0150 a0003c0003t0067g0189 a0003c0003t0070g0127 a0003c0003t0072g0223 a0003c0003t0073g0141 a0003c0003t0075g0176 a0003c0003t0078g0187 a0003c0003t0079g0157 a0003c0003t0081g0139 a0003c0003t0086g0188 a0003c0003t0088g0177 a0003c0003t0089g0153 a0003c0003t0092g0117 a0003c0003t0100g0172 a0003c0008t0001g0013 a0003c0008t0001g0075 a0003c0008t0014g0286 a0005c0012t0016g0028 a0010c0025t0061g0318 a0012c0014t0001g0118	227	408	0.5564	0	c.206 others(4): Show c.2066C>A	p.Thr others(6): Show p.Thr689Asn	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	20/21	2224/4955	2066/2343	689/780		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50212964	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0096 a0001c0002t0045g0096	1	408	0.0025	0	c.122 others(6): Show c.1227+8A>C		ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	10/20					chr10	TogoVar
ASAP1_chr8_130047104_130448674	130116875	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG01123.hp2 NA18906.hp1 HG00738.hp1 HG01123.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0001 a0001c0001t0002 a0001c0001t0028	a0001c0001t0001g0056 a0001c0001t0002g0057 a0001c0001t0028g0088 a0001c0001t0001g0056 a0001c0001t0002g0057 a0001c0001t0028g0088	3	308	0.0097	0	c.199 others(6): Show c.1996+5G>A		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	21/29					chr8	TogoVar
ASAP1_chr8_130047104_130448674	130127920	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0296 a0001c0001t0012g0296	1	308	0.0033	0	c.138 others(6): Show c.1381+7G>A		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	16/29					chr8	TogoVar
ASAP1_chr8_130047104_130448674	130134351	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp2 HG01167.hp2 HG02055.hp2 others(7): Show HG01074.hp2 HG01167.hp2 HG02055.hp2 HG02630.hp2 HG02886.hp2 HG02970.hp1 HG03130.hp1 HG03540.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0006t0005 a0002c0002t0011	a0001c0001t0001g0016 a0001c0001t0011g0015 a0001c0005t0001g0166 others(7): Show a0001c0001t0001g0016 a0001c0001t0011g0015 a0001c0005t0001g0166 a0001c0005t0005g0285 a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0006t0005g0288 a0001c0006t0005g0292 a0001c0006t0005g0293 a0002c0002t0011g0235	10	308	0.0325	1	c.116 others(7): Show c.1169-8dupT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	14/29					chr8	TogoVar
ASAP1_chr8_130047104_130448674	130167627	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG01891.hp1 HG01975.hp1 others(26): Show HG00642.hp2 HG01891.hp1 HG01975.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG06807.hp1 NA18522.hp1 NA18947.hp2 NA18973.hp2 NA18982.hp2 NA18985.hp2 NA19001.hp1 NA19043.hp2 NA19063.hp1 NA19070.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0030 a0001c0001t0031 a0001c0007t0001 a0001c0007t0007	a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(26): Show a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0167 a0001c0001t0001g0221 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0008g0040 a0001c0001t0010g0043 a0001c0001t0011g0045 a0001c0001t0013g0302 a0001c0001t0014g0049 a0001c0001t0014g0153 a0001c0001t0030g0046 a0001c0001t0031g0289 a0001c0007t0001g0037 a0001c0007t0007g0001	29	308	0.0942	-1	c.823 others(6): Show c.823-6delT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	10/29					chr8	TogoVar
ASAP2_chr2_9201812_9410678	9335071	T T	TTG TTG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(19): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG01934.hp2 HG02083.hp1 HG02451.hp2 HG02735.hp2 HG02818.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp2 NA18612.hp2 NA18953.hp2 NA18964.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0008	a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 others(5): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 a0001c0004t0005 a0002c0001t0001 a0002c0001t0003 a0002c0008t0001 a0002c0008t0006	a0001c0002t0003g0148 a0001c0003t0001g0029 a0001c0003t0001g0039 others(19): Show a0001c0002t0003g0148 a0001c0003t0001g0029 a0001c0003t0001g0039 a0001c0003t0001g0046 a0001c0003t0001g0153 a0001c0003t0001g0190 a0001c0003t0006g0006 a0001c0003t0006g0064 a0001c0003t0006g0065 a0001c0003t0006g0080 a0001c0003t0006g0102 a0001c0003t0006g0104 a0001c0003t0006g0105 a0001c0003t0006g0135 a0001c0003t0006g0158 a0001c0004t0005g0010 a0001c0004t0005g0035 a0002c0001t0001g0022 a0002c0001t0001g0067 a0002c0001t0003g0099 a0002c0008t0001g0108 a0002c0008t0006g0103	22	210	0.1048	2	c.763 others(14): Show c.763-10_763-9dupGT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	8/27				INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9393645	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00639.hp1 HG00738.hp1 HG01109.hp2 others(16): Show HG00639.hp1 HG00738.hp1 HG01109.hp2 HG01884.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp2 HG02886.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0005 a0001c0012t0003 a0001c0004t0005 a0001c0012t0003	a0001c0004t0005g0010 a0001c0004t0005g0021 a0001c0004t0005g0028 others(16): Show a0001c0004t0005g0010 a0001c0004t0005g0021 a0001c0004t0005g0028 a0001c0004t0005g0034 a0001c0004t0005g0035 a0001c0004t0005g0041 a0001c0004t0005g0138 a0001c0004t0005g0144 a0001c0004t0005g0176 a0001c0004t0005g0185 a0001c0004t0005g0191 a0001c0004t0005g0192 a0001c0004t0005g0193 a0001c0004t0005g0194 a0001c0004t0005g0195 a0001c0004t0005g0196 a0001c0004t0005g0201 a0001c0004t0005g0205 a0001c0012t0003g0033	19	210	0.0905	0	c.268 others(4): Show c.2682G>A	p.Pro others(6): Show p.Pro894Pro	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/28	2975/5665	2682/3021	894/1006		chr2	TogoVar
ASAP3_chr1_23423563_23489179	23433070	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	346	0.0029	0	c.232 others(6): Show c.2323+7T>A		ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	22/24					chr1	TogoVar
ASAP3_chr1_23423563_23489179	23434535	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02896.hp2 HG02897.hp1 HG03654.hp2 others(1): Show HG02896.hp2 HG02897.hp1 HG03654.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 others(1): Show a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0105	4	346	0.0116	0	c.183 others(4): Show c.1833C>T	p.Asn others(6): Show p.Asn611Asn	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	18/25	1879/4051	1833/2712	611/903		chr1	TogoVar
ASB10_chr7_151170698_151192250	151181462	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02922.hp2 HG02965.hp1 HG02258.hp2 HG02922.hp2 HG02965.hp1	a0001 a0016 a0001 a0016	a0001c0002 a0016c0022 a0001c0002 a0016c0022	a0001c0002t0002 a0001c0002t0003 a0016c0022t0003 a0001c0002t0002 a0001c0002t0003 a0016c0022t0003	a0001c0002t0002g0081 a0001c0002t0003g0064 a0016c0022t0003g0060 a0001c0002t0002g0081 a0001c0002t0003g0064 a0016c0022t0003g0060	3	442	0.0068	0	c.585 others(5): Show c.585-4A>G		ASB10	ENSG00000146926.11	transcript	ENST00000420175.3	protein_coding	2/5					chr7	TogoVar
ASB11_chrX_15276697_15320640	15281696	C C	CT CT	splice_region_variant splice_region_variant	LOW	HG01192.hp1 HG01891.hp2 HG02293.hp1 others(7): Show HG01192.hp1 HG01891.hp2 HG02293.hp1 HG02615.hp1 HG02809.hp2 HG02886.hp2 HG03195.hp1 HG03453.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0022 others(1): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024	a0001c0001t0006g0252 a0001c0001t0006g0255 a0001c0001t0006g0256 others(7): Show a0001c0001t0006g0252 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0261 a0001c0001t0017g0148 a0001c0001t0022g0260 a0001c0001t0024g0140	10	306	0.0327	1	c.18 others(6): Show c.1808dupA		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	7/7					chrX	TogoVar
ASB11_chrX_15276697_15320640	15281696	C C	CTTT CTTT	splice_region_variant splice_region_variant	LOW	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0030 a0007c0007t0030	a0007c0007t0030g0116 a0007c0007t0030g0116	1	306	0.0033	3	c.18 others(14): Show c.1806_*1808dupAAA		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	7/7					chrX	TogoVar
ASB11_chrX_15276697_15320640	15281696	C C	CTTTT CTTTT	splice_region_variant splice_region_variant	LOW	HG00099.hp2 HG00323.hp2 HG00642.hp1 others(37): Show HG00099.hp2 HG00323.hp2 HG00642.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01993.hp2 HG02004.hp2 HG02148.hp1 HG02280.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03688.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18960.hp1 NA18988.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0008 a0004c0004 others(1): Show a0001c0001 a0001c0008 a0004c0004 a0006c0005	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0026 a0001c0008t0018 a0004c0004t0008 a0006c0005t0021	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 others(34): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0026 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0072 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0003g0130 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0162 a0001c0001t0003g0170 a0001c0001t0003g0238 a0001c0001t0008g0012 a0001c0001t0008g0183 a0001c0001t0009g0101 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0009g0129 a0001c0001t0026g0083 a0001c0008t0018g0112 a0004c0004t0008g0110 a0004c0004t0008g0111 a0006c0005t0021g0109	40	306	0.1307	4	c.18 others(15): Show c.1805_*1808dupAAAA		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	7/7					chrX	TogoVar
ASB11_chrX_15276697_15320640	15281696	C C	CTTTTT CTTTTT	splice_region_variant splice_region_variant	LOW	HG00280.hp1 HG00597.hp1 HG00609.hp1 others(73): Show HG00280.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01516.hp2 HG02015.hp1 HG02055.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02717.hp1 HG02738.hp1 HG03209.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18968.hp2 NA18971.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18991.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19009.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19074.hp1 NA19075.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0008c0009t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(63): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0223 a0001c0001t0002g0242 a0001c0001t0002g0254 a0001c0001t0013g0031 a0001c0001t0013g0160 a0001c0001t0014g0028 a0001c0001t0014g0159 a0001c0001t0025g0178 a0001c0001t0028g0048 a0001c0001t0029g0213 a0008c0009t0002g0263	76	306	0.2484	5	c.18 others(16): Show c.1804_*1808dupAAAAA		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	7/7					chrX	TogoVar
ASB11_chrX_15276697_15320640	15281696	C C	CTTTTTT CTTTTTT	splice_region_variant splice_region_variant	LOW	HG00438.hp2 HG01891.hp1 HG02109.hp2 others(10): Show HG00438.hp2 HG01891.hp1 HG02109.hp2 HG02486.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 NA18993.hp2 NA19000.hp1 NA19062.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0004 a0001c0001t0010 a0002c0002t0004 others(1): Show a0001c0001t0004 a0001c0001t0010 a0002c0002t0004 a0005c0006t0010	a0001c0001t0004g0154 a0001c0001t0004g0165 a0001c0001t0004g0172 others(9): Show a0001c0001t0004g0154 a0001c0001t0004g0165 a0001c0001t0004g0172 a0001c0001t0004g0188 a0001c0001t0010g0041 a0001c0001t0010g0064 a0001c0001t0010g0095 a0002c0002t0004g0014 a0002c0002t0004g0113 a0002c0002t0004g0185 a0002c0002t0004g0187 a0005c0006t0010g0058	13	306	0.0425	6	c.18 others(17): Show c.1803_*1808dupAAAAAA		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	7/7					chrX	TogoVar
ASB11_chrX_15276697_15320640	15281696	CT CT	C C	splice_region_variant splice_region_variant	LOW	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0158 a0001c0001t0019g0158	1	306	0.0033	-1	c.18 others(6): Show c.1808delA		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	7/7					chrX	TogoVar
ASB13_chr10_5633867_5671595	5640829	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0234 a0001c0013t0001g0234	1	446	0.0022	0	c.711 others(3): Show c.711G>A	p.Lys others(6): Show p.Lys237Lys	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	6/6	755/2717	711/837	237/278		chr10	TogoVar
ASB15_chr7_123596821_123644481	123601919	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0018 a0001c0001t0029g0018	1	380	0.0026	0	c.-24 others(6): Show c.-245+5G>A		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	1/11					chr7	TogoVar
ASB16_chr17_44165704_44184084	44177729	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(225): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18992.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0012 a0013 a0016 a0017	a0001c0001 a0001c0011 a0002c0002 others(11): Show a0001c0001 a0001c0011 a0002c0002 a0002c0006 a0003c0003 a0005c0005 a0006c0007 a0007c0009 a0009c0012 a0010c0014 a0012c0019 a0013c0020 a0016c0022 a0017c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0011t0002 a0002c0002t0003 a0002c0006t0003 a0003c0003t0001 a0005c0005t0001 a0006c0007t0004 a0007c0009t0002 a0009c0012t0003 a0010c0014t0001 a0012c0019t0001 a0013c0020t0001 a0016c0022t0002 a0017c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0129 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0128 a0001c0001t0006g0004 a0001c0001t0008g0068 a0001c0011t0002g0001 a0002c0002t0003g0019 a0002c0002t0003g0021 a0002c0002t0003g0040 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0048 a0002c0006t0003g0011 a0002c0006t0003g0020 a0002c0006t0003g0041 a0002c0006t0003g0042 a0002c0006t0003g0044 a0002c0006t0003g0047 a0002c0006t0003g0049 a0003c0003t0001g0010 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0061 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0071 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0132 a0005c0005t0001g0001 a0005c0005t0001g0012 a0005c0005t0001g0078 a0006c0007t0004g0025 a0006c0007t0004g0062 a0006c0007t0004g0063 a0006c0007t0004g0064 a0007c0009t0002g0001 a0007c0009t0002g0092 a0009c0012t0003g0011 a0010c0014t0001g0104 a0012c0019t0001g0094 a0013c0020t0001g0006 a0016c0022t0002g0015 a0017c0015t0001g0006	228	362	0.6298	0	c.117 others(6): Show c.1176+7T>C		ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding	4/4					chr17	TogoVar
ASB1_chr2_238421927_238457250	238433693	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0030 a0001c0007t0002g0030	1	416	0.0024	0	c.189 others(3): Show c.189G>A	p.Arg others(5): Show p.Arg63Arg	ASB1	ENSG00000065802.12	transcript	ENST00000264607.9	protein_coding	2/5	333/6891	189/1008	63/335		chr2	TogoVar
ASB2_chr14_93929166_93981570	93956878	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	373	0.0027	0	c.207 others(5): Show c.207-8C>T		ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	2/9					chr14	TogoVar
ASB2_chr14_93929166_93981570	93976435	T T	C C	splice_region_variant splice_region_variant	LOW	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0353 a0001c0001t0006g0353	1	373	0.0027	0	c.-75 others(3): Show c.-75A>G		ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	1/10					chr14	TogoVar
ASB3_chr2_53664980_53791953	53716559	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(54): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00673.hp1 HG00673.hp2 HG01255.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG03130.hp2 HG03195.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18941.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA19001.hp2 NA19011.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19087.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0004c0006t0002	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(54): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0256 a0001c0002t0001g0258 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0020 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0006g0019 a0001c0002t0006g0219 a0001c0002t0006g0222 a0001c0002t0006g0244 a0001c0002t0006g0271 a0001c0002t0007g0239 a0001c0002t0007g0242 a0001c0002t0007g0254 a0001c0002t0007g0262 a0004c0006t0002g0234 a0004c0006t0002g0246	57	350	0.1629	0	c.782 others(5): Show c.782+7G>A		ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	6/9					chr2	TogoVar
ASB3_chr2_53664980_53791953	53728713	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00438.hp1 HG00558.hp2 HG00621.hp2 others(47): Show HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03579.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18950.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18981.hp1 NA18982.hp2 NA18988.hp2 NA19002.hp2 NA19006.hp1 NA19043.hp2 NA19063.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0003 a0003c0005 a0007c0007 a0001c0003 a0003c0005 a0007c0007	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(8): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0011 a0001c0003t0014 a0003c0005t0005 a0007c0007t0005	a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 others(46): Show a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0002g0021 a0001c0003t0002g0278 a0001c0003t0002g0279 a0001c0003t0002g0280 a0001c0003t0002g0281 a0001c0003t0002g0282 a0001c0003t0002g0283 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0003t0002g0289 a0001c0003t0002g0290 a0001c0003t0002g0291 a0001c0003t0002g0292 a0001c0003t0002g0293 a0001c0003t0002g0296 a0001c0003t0002g0297 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0002g0302 a0001c0003t0002g0303 a0001c0003t0002g0310 a0001c0003t0002g0321 a0001c0003t0002g0322 a0001c0003t0003g0309 a0001c0003t0004g0308 a0001c0003t0005g0312 a0001c0003t0005g0329 a0001c0003t0005g0331 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0335 a0001c0003t0005g0342 a0001c0003t0006g0294 a0001c0003t0006g0295 a0001c0003t0006g0301 a0001c0003t0007g0022 a0001c0003t0007g0284 a0001c0003t0007g0285 a0001c0003t0011g0330 a0001c0003t0014g0304 a0003c0005t0005g0008 a0003c0005t0005g0337 a0003c0005t0005g0338 a0007c0007t0005g0341	50	350	0.1429	0	c.603 others(3): Show c.603G>A	p.Ser others(6): Show p.Ser201Ser	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	5/10	749/2226	603/1557	201/518		chr2	TogoVar
ASB3_chr2_53664980_53791953	53728845	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01106.hp2 HG01261.hp2 HG06807.hp1 others(1): Show HG01106.hp2 HG01261.hp2 HG06807.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0008 a0003c0005t0005g0337 a0003c0005t0005g0338 a0003c0005t0005g0008 a0003c0005t0005g0337 a0003c0005t0005g0338	4	350	0.0114	0	c.471 others(3): Show c.471A>T	p.Glu others(6): Show p.Glu157Asp	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	5/10	617/2226	471/1557	157/518		chr2	TogoVar
ASB4_chr7_95480943_95545233	95495738	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00621.hp1 HG00735.hp2 others(29): Show HG00438.hp2 HG00621.hp1 HG00735.hp2 HG01070.hp1 HG01109.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG02040.hp2 HG02293.hp1 HG02523.hp2 HG02970.hp1 HG03041.hp2 HG03225.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp1 NA18954.hp2 NA18959.hp2 NA18968.hp1 NA18978.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0004c0004t0004	a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0049 others(29): Show a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0093 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0014g0098 a0001c0001t0014g0104 a0001c0001t0018g0310 a0001c0001t0020g0096 a0004c0004t0004g0105	32	388	0.0825	1	c.188 others(6): Show c.188-4dupT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95495738	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG01884.hp2 HG02451.hp1 others(36): Show HG01255.hp2 HG01884.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG06807.hp1 NA18747.hp1 NA18997.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0003 a0001c0001 a0002c0002 a0005c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0012 a0005c0003t0016	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 others(36): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0176 a0001c0001t0001g0367 a0001c0001t0002g0008 a0001c0001t0003g0014 a0001c0001t0003g0056 a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0022 a0001c0001t0004g0084 a0001c0001t0004g0320 a0001c0001t0004g0375 a0001c0001t0007g0374 a0001c0001t0009g0019 a0001c0001t0009g0296 a0001c0001t0011g0009 a0001c0001t0011g0020 a0001c0001t0011g0021 a0001c0001t0012g0378 a0001c0001t0012g0379 a0001c0001t0015g0318 a0001c0001t0021g0018 a0002c0002t0001g0039 a0002c0002t0004g0028 a0002c0002t0004g0029 a0002c0002t0004g0037 a0002c0002t0006g0032 a0002c0002t0006g0033 a0002c0002t0006g0034 a0002c0002t0006g0035 a0002c0002t0006g0036 a0002c0002t0006g0038 a0002c0002t0012g0030 a0005c0003t0016g0053	39	388	0.1005	-1	c.188 others(6): Show c.188-4delT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95495738	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0006t0003 a0002c0002t0003 a0002c0002t0006 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(261): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0373 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0204 a0001c0001t0002g0251 a0001c0001t0002g0300 a0001c0001t0002g0360 a0001c0001t0002g0364 a0001c0001t0003g0045 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0175 a0001c0001t0003g0206 a0001c0001t0003g0262 a0001c0001t0003g0292 a0001c0001t0003g0301 a0001c0001t0003g0333 a0001c0001t0003g0346 a0001c0001t0004g0110 a0001c0001t0004g0129 a0001c0001t0004g0146 a0001c0001t0004g0161 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0319 a0001c0001t0004g0338 a0001c0001t0004g0341 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0289 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0299 a0001c0001t0005g0340 a0001c0001t0006g0133 a0001c0001t0006g0155 a0001c0001t0006g0283 a0001c0001t0007g0255 a0001c0001t0007g0258 a0001c0001t0007g0284 a0001c0001t0007g0287 a0001c0001t0007g0339 a0001c0001t0008g0123 a0001c0001t0008g0140 a0001c0001t0008g0165 a0001c0001t0008g0236 a0001c0001t0009g0250 a0001c0001t0009g0260 a0001c0001t0009g0302 a0001c0001t0010g0182 a0001c0001t0010g0185 a0001c0001t0010g0186 a0001c0001t0010g0187 a0001c0001t0010g0188 a0001c0001t0013g0195 a0001c0001t0013g0196 a0001c0001t0013g0197 a0001c0001t0015g0113 a0001c0001t0016g0370 a0001c0001t0017g0282 a0001c0001t0017g0291 a0001c0001t0018g0288 a0001c0001t0019g0171 a0001c0001t0023g0218 a0001c0001t0024g0211 a0001c0001t0025g0268 a0001c0006t0003g0238 a0002c0002t0003g0371 a0002c0002t0006g0031 a0002c0002t0006g0372 a0003c0005t0001g0354	271	388	0.6985	-2	c.188 others(13): Show c.188-5_188-4delTT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB7_chr15_100597589_100656701	100629438	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00733.hp2 HG02615.hp2 HG00733.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0014 a0001c0006t0002g0014	2	368	0.0054	0	c.213 others(3): Show c.213T>C	p.Ala others(5): Show p.Ala71Ala	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	5/6	943/4926	213/957	71/318		chr15	TogoVar

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