Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ATXN2L_chr16_28817999_28842232	28823562	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0109 a0001c0001t0008g0109	1	382	0.0026	0	c.299 others(5): Show c.299+4A>G		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	1/21					chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28823563	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0109 a0001c0001t0008g0109	1	382	0.0026	0	c.299 others(5): Show c.299+5G>A		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	1/21					chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28823565	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0109 a0001c0001t0008g0109	1	382	0.0026	0	c.299 others(5): Show c.299+7A>G		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	1/21					chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28825688	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01891.hp2 HG02055.hp1 others(13): Show HG01106.hp2 HG01891.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0028 others(1): Show a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0028 a0001c0002t0001g0043	16	382	0.0419	0	c.393 others(5): Show c.393+8G>A		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	3/21					chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28830936	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG01175.hp2 HG02145.hp2 others(12): Show HG00438.hp1 HG01175.hp2 HG02145.hp2 HG03471.hp2 HG03927.hp2 HG04115.hp2 NA18949.hp1 NA18949.hp2 NA18957.hp2 NA18967.hp1 NA19009.hp1 NA19067.hp1 NA19078.hp1 NA19078.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0016t0003	a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0050 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0002g0060 a0001c0002t0001g0044 a0001c0016t0003g0069	15	382	0.0393	1	c.121 others(7): Show c.1211-9dupA		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	9/21				INFO_REALIGN_3_PRIME	chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28835275	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	382	0.0026	0	c.256 others(6): Show c.2564-3C>T		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	19/21					chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28835545	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00639.hp1 HG00642.hp2 others(93): Show HG00099.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19067.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0001c0013 a0001c0021 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001 a0001c0012t0001 a0001c0013t0001 a0001c0021t0001 a0003c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0003g0004 a0001c0001t0006g0004 a0001c0001t0013g0003 a0001c0001t0015g0003 a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0102 a0001c0012t0001g0055 a0001c0013t0001g0004 a0001c0021t0001g0004 a0003c0009t0001g0003	96	382	0.2513	0	c.268 others(6): Show c.2686-4G>A		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	20/21					chr16	TogoVar
ATXN2L_chr16_28817999_28842232	28835925	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00438.hp2 HG00558.hp1 others(174): Show HG00099.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0013 a0001c0016 a0001c0020 a0001c0021 a0001c0024 a0002c0028 a0003c0009 a0005c0025 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0002t0001 a0001c0003t0001 a0001c0012t0001 a0001c0013t0001 a0001c0016t0003 a0001c0020t0001 a0001c0021t0001 a0001c0024t0001 a0002c0028t0009 a0003c0009t0001 a0005c0025t0001 a0007c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(63): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0003g0004 a0001c0001t0006g0004 a0001c0001t0011g0006 a0001c0001t0013g0003 a0001c0001t0015g0003 a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0102 a0001c0003t0001g0092 a0001c0012t0001g0055 a0001c0013t0001g0004 a0001c0016t0003g0069 a0001c0020t0001g0006 a0001c0021t0001g0004 a0001c0024t0001g0063 a0002c0028t0009g0062 a0003c0009t0001g0003 a0005c0025t0001g0071 a0007c0018t0001g0064	177	382	0.4634	0	c.289 others(6): Show c.2896-8T>C		ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	21/21					chr16	TogoVar
ATXN2_chr12_111447214_111604315	111470741	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0160 a0001c0026t0001g0160	1	298	0.0034	0	c.252 others(4): Show c.2526A>G	p.Val others(6): Show p.Val842Val	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	19/25	2807/4347	2526/3468	842/1155		chr12	TogoVar
ATXN3_chr14_92053552_92111582	92064419	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	402	0.0025	0	c.992 others(5): Show c.992-5A>T		ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/10					chr14	TogoVar
ATXN7L3_chr17_44186805_44204884	44194677	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	380	0.0026	0	c.738 others(5): Show c.738-3C>T		ATXN7L3	ENSG00000087152.16	transcript	ENST00000587097.6	protein_coding	11/12					chr17	TogoVar
ATXN7L3_chr17_44186805_44204884	44197738	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	380	0.0026	0	c.52- others(4): Show c.52-8G>T		ATXN7L3	ENSG00000087152.16	transcript	ENST00000587097.6	protein_coding	2/12					chr17	TogoVar
AUH_chr9_91208823_91366918	91355976	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00642.hp2 HG00673.hp2 others(40): Show HG00544.hp1 HG00642.hp2 HG00673.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02738.hp1 HG03017.hp2 HG03831.hp2 HG04115.hp2 NA18941.hp2 NA18943.hp1 NA18948.hp1 NA18954.hp2 NA18963.hp1 NA18969.hp2 NA18974.hp2 NA18980.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA19006.hp1 NA19009.hp2 NA19060.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19084.hp1 NA19085.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0065 others(38): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0065 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330	43	358	0.1201	0	c.331 others(5): Show c.331-6G>A		AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	2/9					chr9	TogoVar
AUNIP_chr1_25829006_25864457	25835850	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG02559.hp1 HG02896.hp1 HG02897.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0001t0013 a0001c0007t0012 a0001c0001t0004 a0001c0001t0013 a0001c0007t0012	a0001c0001t0004g0211 a0001c0001t0013g0035 a0001c0007t0012g0222 a0001c0001t0004g0211 a0001c0001t0013g0035 a0001c0007t0012g0222	4	352	0.0114	0	c.221 others(5): Show c.221-4T>C		AUNIP	ENSG00000127423.11	transcript	ENST00000374298.4	protein_coding	2/2					chr1	TogoVar
AUP1_chr2_74521652_74534706	74526936	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	388	0.0026	0	c.119 others(6): Show c.1196+5G>A		AUP1	ENSG00000115307.17	transcript	ENST00000377526.4	protein_coding	11/11					chr2	TogoVar
AURKAIP1_chr1_1368736_1380207	1374788	G G	A A	splice_region_variant splice_region_variant	LOW	HG01243.hp1 HG01891.hp1 HG02717.hp2 others(4): Show HG01243.hp1 HG01891.hp1 HG02717.hp2 HG02818.hp1 HG03130.hp1 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0017 a0001c0001t0003g0009 a0001c0001t0003g0017	7	358	0.0196	0	c.-32 others(3): Show c.-32C>T		AURKAIP1	ENSG00000175756.14	transcript	ENST00000338338.10	protein_coding	2/4					chr1	TogoVar
AURKA_chr20_56364390_56397215	56384330	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18953.hp1 NA19057.hp1 NA19079.hp2 NA18953.hp1 NA19057.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0131	3	384	0.0078	0	c.320 others(5): Show c.320-6A>G		AURKA	ENSG00000087586.18	transcript	ENST00000395915.8	protein_coding	3/8					chr20	TogoVar
AURKB_chr17_8199734_8215575	8206647	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19011.hp2 NA19068.hp1 NA19079.hp1 NA19011.hp2 NA19068.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	428	0.0070	0	c.538 others(5): Show c.538-8C>T		AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding	6/8					chr17	TogoVar
AURKC_chr19_57226023_57240548	57232035	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0001	1	410	0.0024	0	c.107 others(3): Show c.107G>A	p.Arg others(5): Show p.Arg36Gln	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding	3/7	333/1287	107/930	36/309		chr19	TogoVar
AURKC_chr19_57226023_57240548	57233456	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01258.hp1 NA20752.hp2 HG01256.hp2 HG01258.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	3	410	0.0073	0	c.436 others(5): Show c.436-4A>G		AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding	4/6					chr19	TogoVar
AVIL_chr12_57792380_57823734	57803399	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	372	0.0027	0	c.181 others(6): Show c.1818-8T>C		AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	15/19					chr12	TogoVar
AVIL_chr12_57792380_57823734	57809594	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01433.hp1 HG01952.hp1 others(26): Show HG01081.hp2 HG01433.hp1 HG01952.hp1 HG02074.hp1 HG02129.hp1 HG02155.hp1 HG02698.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 NA18944.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18994.hp1 NA18998.hp2 NA19009.hp2 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0016 a0001c0001 a0004c0016	a0001c0001t0001 a0004c0016t0001 a0001c0001t0001 a0004c0016t0001	a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0025 others(16): Show a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0122 a0001c0001t0001g0173 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0004c0016t0001g0123	29	372	0.0780	0	c.939 others(5): Show c.939+3A>T		AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	9/19					chr12	TogoVar
AVIL_chr12_57792380_57823734	57814149	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG03130.hp2 HG02109.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	2	372	0.0054	0	c.141 others(5): Show c.141+3G>T		AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	3/19					chr12	TogoVar
AVPR2_chrX_153899673_153912166	153905176	G G	GC GC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18968.hp1 NA18968.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0009 a0012c0018t0001g0009	1	322	0.0031	1	c.25+ others(5): Show c.25+7dupC		AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding	2/3				INFO_REALIGN_3_PRIME	chrX	TogoVar
AVPR2_chrX_153899673_153912166	153905526	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(318): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0013 a0001c0014 a0002c0003 a0003c0006 a0004c0005 a0005c0009 a0006c0010 a0007c0011 a0008c0019 a0009c0012 a0010c0015 a0011c0016 a0012c0018 a0013c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(22): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0007t0001 a0001c0008t0001 a0001c0013t0008 a0001c0014t0001 a0002c0003t0001 a0002c0003t0012 a0003c0006t0001 a0004c0005t0001 a0005c0009t0003 a0006c0010t0001 a0007c0011t0010 a0008c0019t0001 a0009c0012t0005 a0010c0015t0001 a0011c0016t0001 a0012c0018t0001 a0013c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0002t0001g0001 a0001c0002t0004g0001 a0001c0002t0009g0001 a0001c0002t0011g0001 a0001c0004t0001g0001 a0001c0004t0001g0002 a0001c0004t0002g0001 a0001c0004t0007g0007 a0001c0007t0001g0003 a0001c0008t0001g0001 a0001c0013t0008g0001 a0001c0014t0001g0001 a0002c0003t0001g0002 a0002c0003t0012g0002 a0003c0006t0001g0001 a0004c0005t0001g0001 a0005c0009t0003g0001 a0006c0010t0001g0001 a0007c0011t0010g0005 a0008c0019t0001g0001 a0009c0012t0005g0008 a0010c0015t0001g0001 a0011c0016t0001g0001 a0012c0018t0001g0009 a0013c0017t0001g0001	321	322	0.9969	0	c.26- others(4): Show c.26-6T>G		AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding	2/3					chrX	TogoVar
AWAT1_chrX_70229655_70245659	70235821	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02559.hp1 HG02647.hp1 HG02723.hp1 others(1): Show HG02559.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	4	315	0.0127	0	c.182 others(3): Show c.182G>A	p.Arg others(5): Show p.Arg61Gln	AWAT1	ENSG00000204195.4	transcript	ENST00000374521.4	protein_coding	2/7	223/1397	182/987	61/328		chrX	TogoVar
AWAT1_chrX_70229655_70245659	70237046	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0003 a0001c0005t0001g0003	1	315	0.0032	0	c.258 others(3): Show c.258C>T	p.Ile others(5): Show p.Ile86Ile	AWAT1	ENSG00000204195.4	transcript	ENST00000374521.4	protein_coding	4/7	299/1397	258/987	86/328		chrX	TogoVar
AWAT2_chrX_70035542_70054938	70041968	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(157): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 a0001c0001 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0002c0005t0008	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0070 a0001c0006t0002g0039 a0002c0005t0008g0036	160	338	0.4734	0	c.848 others(5): Show c.848-6T>C		AWAT2	ENSG00000147160.9	transcript	ENST00000276101.7	protein_coding	6/7					chrX	TogoVar
AXDND1_chr1_179360971_179559735	179366003	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00408.hp2 HG00597.hp2 others(43): Show HG00099.hp2 HG00408.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp1 HG03710.hp2 HG03927.hp1 NA18747.hp1 NA18949.hp1 NA18954.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA19002.hp1 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19060.hp1 NA19083.hp2 NA19088.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0016 a0017 a0018	a0001c0002 a0002c0001 a0002c0020 others(5): Show a0001c0002 a0002c0001 a0002c0020 a0003c0004 a0005c0008 a0016c0026 a0017c0027 a0018c0033	a0001c0002t0001 a0002c0001t0001 a0002c0020t0001 others(5): Show a0001c0002t0001 a0002c0001t0001 a0002c0020t0001 a0003c0004t0001 a0005c0008t0001 a0016c0026t0001 a0017c0027t0001 a0018c0033t0001	a0001c0002t0001g0316 a0001c0002t0001g0322 a0001c0002t0001g0323 others(43): Show a0001c0002t0001g0316 a0001c0002t0001g0322 a0001c0002t0001g0323 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0314 a0002c0001t0001g0315 a0002c0001t0001g0324 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0329 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0333 a0002c0001t0001g0336 a0002c0001t0001g0337 a0002c0001t0001g0338 a0002c0001t0001g0339 a0002c0001t0001g0340 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0001g0343 a0002c0001t0001g0344 a0002c0001t0001g0345 a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0001g0349 a0002c0020t0001g0320 a0002c0020t0001g0321 a0003c0004t0001g0311 a0003c0004t0001g0317 a0003c0004t0001g0318 a0005c0008t0001g0335 a0005c0008t0001g0350 a0005c0008t0001g0351 a0005c0008t0001g0352 a0005c0008t0001g0353 a0005c0008t0001g0354 a0005c0008t0001g0355 a0005c0008t0001g0356 a0016c0026t0001g0348 a0017c0027t0001g0334 a0018c0033t0001g0319	46	356	0.1292	0	c.-10 others(6): Show c.-107+3A>G		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	1/25					chr1	TogoVar
AXDND1_chr1_179360971_179559735	179366004	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01433.hp2 HG01496.hp1 others(10): Show HG01106.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG02071.hp1 HG02165.hp2 NA18943.hp2 NA18979.hp1 NA18989.hp2 NA19065.hp1 NA19079.hp1 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 others(10): Show a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0306 a0004c0005t0001g0307 a0004c0005t0001g0308 a0004c0005t0001g0309 a0004c0005t0001g0310	13	356	0.0365	0	c.-10 others(6): Show c.-107+4C>G		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	1/25					chr1	TogoVar
AXDND1_chr1_179360971_179559735	179379490	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02280.hp1 HG02572.hp2 others(9): Show HG01884.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp2 NA19030.hp1	a0001 a0010 a0023 a0001 a0010 a0023	a0001c0007 a0010c0017 a0023c0028 a0001c0007 a0010c0017 a0023c0028	a0001c0007t0001 a0010c0017t0001 a0023c0028t0001 a0001c0007t0001 a0010c0017t0001 a0023c0028t0001	a0001c0007t0001g0080 a0001c0007t0001g0183 a0001c0007t0001g0187 others(9): Show a0001c0007t0001g0080 a0001c0007t0001g0183 a0001c0007t0001g0187 a0001c0007t0001g0189 a0001c0007t0001g0190 a0001c0007t0001g0200 a0001c0007t0001g0201 a0001c0007t0001g0202 a0001c0007t0001g0203 a0010c0017t0001g0204 a0010c0017t0001g0205 a0023c0028t0001g0188	12	356	0.0337	0	c.581 others(5): Show c.581+8C>G		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	6/25					chr1	TogoVar
AXDND1_chr1_179360971_179559735	179382762	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp2 HG02970.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0191 a0007c0009t0001g0191	1	356	0.0028	0	c.638 others(5): Show c.638+6T>C		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	7/25					chr1	TogoVar
AXDND1_chr1_179360971_179559735	179444970	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00609.hp1 HG00733.hp2 others(67): Show HG00280.hp2 HG00609.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG03688.hp2 NA18906.hp2 NA18945.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0006 a0007 others(7): Show a0003 a0006 a0007 a0008 a0009 a0018 a0019 a0020 a0021 a0022	a0003c0004 a0006c0010 a0007c0009 others(7): Show a0003c0004 a0006c0010 a0007c0009 a0008c0012 a0009c0013 a0018c0033 a0019c0031 a0020c0030 a0021c0032 a0022c0034	a0003c0004t0001 a0006c0010t0001 a0007c0009t0001 others(7): Show a0003c0004t0001 a0006c0010t0001 a0007c0009t0001 a0008c0012t0001 a0009c0013t0001 a0018c0033t0001 a0019c0031t0001 a0020c0030t0001 a0021c0032t0001 a0022c0034t0001	a0003c0004t0001g0003 a0003c0004t0001g0005 a0003c0004t0001g0008 others(67): Show a0003c0004t0001g0003 a0003c0004t0001g0005 a0003c0004t0001g0008 a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0016 a0003c0004t0001g0017 a0003c0004t0001g0018 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0022 a0003c0004t0001g0023 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0035 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0038 a0003c0004t0001g0040 a0003c0004t0001g0041 a0003c0004t0001g0042 a0003c0004t0001g0043 a0003c0004t0001g0099 a0003c0004t0001g0173 a0003c0004t0001g0177 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0001g0181 a0003c0004t0001g0182 a0003c0004t0001g0184 a0003c0004t0001g0311 a0003c0004t0001g0317 a0003c0004t0001g0318 a0006c0010t0001g0006 a0006c0010t0001g0009 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0019 a0006c0010t0001g0039 a0007c0009t0001g0176 a0007c0009t0001g0191 a0007c0009t0001g0192 a0007c0009t0001g0193 a0007c0009t0001g0194 a0007c0009t0001g0195 a0007c0009t0001g0196 a0008c0012t0001g0168 a0008c0012t0001g0169 a0008c0012t0001g0170 a0008c0012t0001g0171 a0008c0012t0001g0172 a0009c0013t0001g0095 a0009c0013t0001g0096 a0009c0013t0001g0097 a0009c0013t0001g0098 a0018c0033t0001g0319 a0019c0031t0001g0015 a0020c0030t0001g0178 a0021c0032t0001g0007 a0022c0034t0001g0174	70	356	0.1966	0	c.156 others(4): Show c.1564A>C	p.Ile others(6): Show p.Ile522Leu	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/26	1700/3391	1564/3039	522/1012		chr1	TogoVar
AXDND1_chr1_179360971_179559735	179533790	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG02976.hp1 HG02965.hp1 HG02976.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0200 a0001c0007t0001g0201 a0001c0007t0001g0200 a0001c0007t0001g0201	2	356	0.0056	0	c.271 others(6): Show c.2716-5G>A		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	23/25					chr1	TogoVar
AXIN1_chr16_282440_357723	287441	C C	T T	splice_region_variant splice_region_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0042 a0001c0004t0042	a0001c0004t0042g0079 a0001c0004t0042g0079	1	378	0.0027	0	c.68 others(4): Show c.681G>A		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	11/11					chr16	TogoVar
AXIN1_chr16_282440_357723	291182	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	378	0.0027	0	c.229 others(6): Show c.2294+8C>T		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	9/10					chr16	TogoVar
AXIN1_chr16_282440_357723	293481	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp1 HG01257.hp1 others(1): Show HG01167.hp2 HG01169.hp1 HG01257.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0313 a0001c0010t0001g0294 a0001c0010t0001g0295 others(1): Show a0001c0001t0001g0313 a0001c0010t0001g0294 a0001c0010t0001g0295 a0001c0010t0001g0309	4	378	0.0106	0	c.218 others(6): Show c.2186+7C>T		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	8/10					chr16	TogoVar
AXIN1_chr16_282440_357723	314688	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0214 a0001c0003t0003g0214	1	378	0.0027	0	c.879 others(5): Show c.879-5T>C		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10					chr16	TogoVar
AXIN2_chr17_65523563_65566648	65530110	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp2 NA19012.hp2 HG02129.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	2	402	0.0050	0	c.240 others(6): Show c.2406-8C>G		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	10/10					chr17	TogoVar
AXL_chr19_41214223_41266766	41252975	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01891.hp1 HG03098.hp1 others(3): Show HG00639.hp1 HG01891.hp1 HG03098.hp1 HG03195.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018	a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 others(3): Show a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0285 a0001c0001t0012g0253 a0001c0001t0018g0020	6	314	0.0191	0	c.192 others(6): Show c.1926+8G>C		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	16/19					chr19	TogoVar
AZGP1_chr7_99961730_99981031	99972004	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18994.hp2 NA19089.hp2 NA18994.hp2 NA19089.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0107 a0003c0008t0001g0108 a0003c0008t0001g0107 a0003c0008t0001g0108	2	432	0.0046	0	c.79C others(2): Show c.79C>T	p.Arg others(5): Show p.Arg27Cys	AZGP1	ENSG00000160862.13	transcript	ENST00000292401.9	protein_coding	2/4	90/1181	79/897	27/298		chr7	TogoVar
AZI2_chr3_28316047_28353824	28340396	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(47): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01928.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02155.hp2 HG02293.hp2 HG02738.hp1 HG03654.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18957.hp2 NA18960.hp1 NA18969.hp1 NA18977.hp1 NA18982.hp1 NA18987.hp1 NA19002.hp2 NA19003.hp1 NA19056.hp2 NA19072.hp1 NA19075.hp2 NA19087.hp2 NA19240.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0001t0003 a0001c0001t0007 a0001c0001t0016	a0001c0001t0003g0002 a0001c0001t0003g0013 a0001c0001t0003g0023 others(18): Show a0001c0001t0003g0002 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0007g0058 a0001c0001t0007g0125 a0001c0001t0007g0128 a0001c0001t0016g0127	50	360	0.1389	0	c.216 others(5): Show c.216+6T>A		AZI2	ENSG00000163512.14	transcript	ENST00000479665.6	protein_coding	2/7					chr3	TogoVar
AZIN2_chr1_33076153_33128492	33084130	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	322	0.0031	0	c.279 others(5): Show c.279+3G>A		AZIN2	ENSG00000142920.18	transcript	ENST00000294517.11	protein_coding	5/11					chr1	TogoVar
AZU1_chr19_822837_837018	829555	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00621.hp2 HG00642.hp1 others(9): Show HG00099.hp2 HG00621.hp2 HG00642.hp1 HG01070.hp2 HG01496.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG03927.hp1 HG04184.hp2 NA18969.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0037 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0082 a0001c0015t0001g0011	12	391	0.0307	0	c.216 others(5): Show c.216-7C>G		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	2/4					chr19	TogoVar
AZU1_chr19_822837_837018	830688	GACTCCAT others(5): Show GACTCCATTTCCT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	391	0.0026	-12	c.361 others(24): Show c.361-19_361-8delACTCCATTTCCT		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	3/4					chr19	TogoVar
AZU1_chr19_822837_837018	830938	CAATGTGA others(12): Show CAATGTGAGTGCTCCCTGTG	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01192.hp2 HG01192.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0075 a0007c0014t0001g0075	1	391	0.0026	-19	c.592 others(29): Show c.592_594+16delAATGTGAGTGCTCCCTGTG	p.Asn others(6): Show p.Asn198del	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	4/5	602/907	592/756	198/251		chr19	TogoVar
AZU1_chr19_822837_837018	831990	TGTAATAA others(33): Show TGTAATAAAGAAGCCGATCTCTCCTCTGCTCCTGGTTTCTG	T T	splice_region_variant splice_region_variant	LOW	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	391	0.0026	-40	c.11 others(49): Show c.114_*153delGTAATAAAGAAGCCGATCTCTCCTCTGCTCCTGGTT TCTG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	5/5					chr19	TogoVar
B3GALNT1_chr3_161078883_161110349	161104410	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01169.hp1 HG01433.hp2 others(9): Show HG01167.hp1 HG01169.hp1 HG01433.hp2 HG02559.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03225.hp1 NA18906.hp2 NA19030.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0044 others(4): Show a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0044 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0137	12	400	0.0300	0	c.-30 others(6): Show c.-308-4A>C		B3GALNT1	ENSG00000169255.15	transcript	ENST00000320474.10	protein_coding	1/4					chr3	TogoVar
B3GALNT2_chr1_235442190_235509452	235484315	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00558.hp2 others(84): Show HG00099.hp1 HG00140.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp2 NA18954.hp2 NA18960.hp1 NA18975.hp2 NA18978.hp2 NA18982.hp2 NA18984.hp2 NA18995.hp1 NA19005.hp2 NA19010.hp2 NA19058.hp1 NA19062.hp1 NA19066.hp2 NA19074.hp2 NA19080.hp2 NA19083.hp2 NA19089.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 others(19): Show a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0014 a0001c0002t0015 a0001c0002t0018 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0039 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0004c0005t0018	a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 others(81): Show a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0278 a0001c0002t0003g0280 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0307 a0001c0002t0003g0332 a0001c0002t0003g0333 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0006g0281 a0001c0002t0006g0285 a0001c0002t0006g0304 a0001c0002t0006g0308 a0001c0002t0006g0313 a0001c0002t0006g0316 a0001c0002t0006g0321 a0001c0002t0006g0322 a0001c0002t0006g0326 a0001c0002t0006g0329 a0001c0002t0006g0331 a0001c0002t0008g0006 a0001c0002t0008g0309 a0001c0002t0008g0310 a0001c0002t0008g0311 a0001c0002t0008g0314 a0001c0002t0008g0317 a0001c0002t0008g0323 a0001c0002t0008g0324 a0001c0002t0008g0334 a0001c0002t0014g0005 a0001c0002t0014g0319 a0001c0002t0014g0327 a0001c0002t0015g0004 a0001c0002t0015g0276 a0001c0002t0015g0277 a0001c0002t0018g0296 a0001c0002t0018g0303 a0001c0002t0026g0318 a0001c0002t0026g0328 a0001c0002t0027g0279 a0001c0002t0027g0293 a0001c0002t0028g0305 a0001c0002t0028g0306 a0001c0002t0029g0265 a0001c0002t0029g0292 a0001c0002t0039g0096 a0001c0002t0060g0325 a0001c0002t0061g0312 a0001c0002t0062g0284 a0001c0002t0063g0330 a0001c0002t0064g0320 a0001c0002t0065g0282 a0001c0002t0066g0315 a0001c0002t0067g0335 a0001c0002t0068g0262 a0001c0002t0069g0338 a0004c0005t0018g0283	87	344	0.2529	0	c.555 others(5): Show c.555+7A>C		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	4/11					chr1	TogoVar
B3GALT9_chr9_120788467_120806787	120796424	C C	T T	splice_region_variant splice_region_variant	LOW	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0060 a0002c0002t0027g0060	1	404	0.0025	0	c.-18 others(4): Show c.-180C>T		B3GALT9	ENSG00000214654.9	transcript	ENST00000689072.1	protein_coding	2/3					chr9	TogoVar

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